Incidental Mutation 'R0032:Nbeal2'
ID 59421
Institutional Source Beutler Lab
Gene Symbol Nbeal2
Ensembl Gene ENSMUSG00000056724
Gene Name neurobeachin-like 2
Synonyms 1110014F23Rik
MMRRC Submission 038326-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.256) question?
Stock # R0032 (G1) of strain 731
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 110453857-110483229 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 110466936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133191] [ENSMUST00000133191] [ENSMUST00000133191] [ENSMUST00000133191] [ENSMUST00000149089] [ENSMUST00000167320] [ENSMUST00000167320] [ENSMUST00000167320] [ENSMUST00000167320] [ENSMUST00000196488] [ENSMUST00000196488] [ENSMUST00000196488] [ENSMUST00000196488]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000123996
Predicted Effect probably benign
Transcript: ENSMUST00000130024
SMART Domains Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
low complexity region 236 248 N/A INTRINSIC
Pfam:DUF4704 345 607 2.5e-29 PFAM
low complexity region 649 664 N/A INTRINSIC
low complexity region 804 819 N/A INTRINSIC
Pfam:DUF4800 872 1138 9.9e-113 PFAM
low complexity region 1164 1193 N/A INTRINSIC
Pfam:PH_BEACH 1204 1291 2.2e-21 PFAM
Beach 1343 1623 5.2e-205 SMART
WD40 1721 1766 1.03e1 SMART
WD40 1769 1808 6.19e-5 SMART
WD40 1820 1859 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130024
SMART Domains Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
low complexity region 236 248 N/A INTRINSIC
Pfam:DUF4704 345 607 2.5e-29 PFAM
low complexity region 649 664 N/A INTRINSIC
low complexity region 804 819 N/A INTRINSIC
Pfam:DUF4800 872 1138 9.9e-113 PFAM
low complexity region 1164 1193 N/A INTRINSIC
Pfam:PH_BEACH 1204 1291 2.2e-21 PFAM
Beach 1343 1623 5.2e-205 SMART
WD40 1721 1766 1.03e1 SMART
WD40 1769 1808 6.19e-5 SMART
WD40 1820 1859 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130024
SMART Domains Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
low complexity region 236 248 N/A INTRINSIC
Pfam:DUF4704 345 607 2.5e-29 PFAM
low complexity region 649 664 N/A INTRINSIC
low complexity region 804 819 N/A INTRINSIC
Pfam:DUF4800 872 1138 9.9e-113 PFAM
low complexity region 1164 1193 N/A INTRINSIC
Pfam:PH_BEACH 1204 1291 2.2e-21 PFAM
Beach 1343 1623 5.2e-205 SMART
WD40 1721 1766 1.03e1 SMART
WD40 1769 1808 6.19e-5 SMART
WD40 1820 1859 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130024
SMART Domains Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
low complexity region 236 248 N/A INTRINSIC
Pfam:DUF4704 345 607 2.5e-29 PFAM
low complexity region 649 664 N/A INTRINSIC
low complexity region 804 819 N/A INTRINSIC
Pfam:DUF4800 872 1138 9.9e-113 PFAM
low complexity region 1164 1193 N/A INTRINSIC
Pfam:PH_BEACH 1204 1291 2.2e-21 PFAM
Beach 1343 1623 5.2e-205 SMART
WD40 1721 1766 1.03e1 SMART
WD40 1769 1808 6.19e-5 SMART
WD40 1820 1859 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133191
SMART Domains Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 56 84 N/A INTRINSIC
low complexity region 192 201 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 514 522 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
Pfam:Laminin_G_3 578 818 5.9e-8 PFAM
low complexity region 1014 1028 N/A INTRINSIC
low complexity region 1128 1136 N/A INTRINSIC
low complexity region 1149 1163 N/A INTRINSIC
low complexity region 1359 1375 N/A INTRINSIC
low complexity region 1515 1530 N/A INTRINSIC
low complexity region 1621 1647 N/A INTRINSIC
low complexity region 1875 1904 N/A INTRINSIC
Pfam:PH_BEACH 1908 2002 6.2e-28 PFAM
Beach 2054 2334 5.2e-205 SMART
WD40 2432 2477 1.03e1 SMART
WD40 2480 2519 6.19e-5 SMART
WD40 2531 2570 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133191
SMART Domains Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 56 84 N/A INTRINSIC
low complexity region 192 201 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 514 522 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
Pfam:Laminin_G_3 578 818 5.9e-8 PFAM
low complexity region 1014 1028 N/A INTRINSIC
low complexity region 1128 1136 N/A INTRINSIC
low complexity region 1149 1163 N/A INTRINSIC
low complexity region 1359 1375 N/A INTRINSIC
low complexity region 1515 1530 N/A INTRINSIC
low complexity region 1621 1647 N/A INTRINSIC
low complexity region 1875 1904 N/A INTRINSIC
Pfam:PH_BEACH 1908 2002 6.2e-28 PFAM
Beach 2054 2334 5.2e-205 SMART
WD40 2432 2477 1.03e1 SMART
WD40 2480 2519 6.19e-5 SMART
WD40 2531 2570 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133191
SMART Domains Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 56 84 N/A INTRINSIC
low complexity region 192 201 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 514 522 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
Pfam:Laminin_G_3 578 818 5.9e-8 PFAM
low complexity region 1014 1028 N/A INTRINSIC
low complexity region 1128 1136 N/A INTRINSIC
low complexity region 1149 1163 N/A INTRINSIC
low complexity region 1359 1375 N/A INTRINSIC
low complexity region 1515 1530 N/A INTRINSIC
low complexity region 1621 1647 N/A INTRINSIC
low complexity region 1875 1904 N/A INTRINSIC
Pfam:PH_BEACH 1908 2002 6.2e-28 PFAM
Beach 2054 2334 5.2e-205 SMART
WD40 2432 2477 1.03e1 SMART
WD40 2480 2519 6.19e-5 SMART
WD40 2531 2570 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133191
SMART Domains Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 56 84 N/A INTRINSIC
low complexity region 192 201 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 514 522 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
Pfam:Laminin_G_3 578 818 5.9e-8 PFAM
low complexity region 1014 1028 N/A INTRINSIC
low complexity region 1128 1136 N/A INTRINSIC
low complexity region 1149 1163 N/A INTRINSIC
low complexity region 1359 1375 N/A INTRINSIC
low complexity region 1515 1530 N/A INTRINSIC
low complexity region 1621 1647 N/A INTRINSIC
low complexity region 1875 1904 N/A INTRINSIC
Pfam:PH_BEACH 1908 2002 6.2e-28 PFAM
Beach 2054 2334 5.2e-205 SMART
WD40 2432 2477 1.03e1 SMART
WD40 2480 2519 6.19e-5 SMART
WD40 2531 2570 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149089
SMART Domains Protein: ENSMUSP00000119254
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 49 77 N/A INTRINSIC
low complexity region 185 194 N/A INTRINSIC
low complexity region 220 231 N/A INTRINSIC
low complexity region 480 488 N/A INTRINSIC
low complexity region 493 508 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153960
Predicted Effect probably benign
Transcript: ENSMUST00000167320
SMART Domains Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 56 84 N/A INTRINSIC
low complexity region 192 201 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 514 522 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
low complexity region 763 775 N/A INTRINSIC
Pfam:DUF4704 872 1148 9.2e-32 PFAM
low complexity region 1149 1163 N/A INTRINSIC
low complexity region 1366 1382 N/A INTRINSIC
low complexity region 1522 1537 N/A INTRINSIC
Pfam:DUF4800 1590 1856 1.5e-112 PFAM
low complexity region 1882 1911 N/A INTRINSIC
Pfam:PH_BEACH 1922 2009 3.1e-21 PFAM
Beach 2061 2341 5.2e-205 SMART
WD40 2439 2484 1.03e1 SMART
WD40 2487 2526 6.19e-5 SMART
WD40 2538 2577 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167320
SMART Domains Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 56 84 N/A INTRINSIC
low complexity region 192 201 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 514 522 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
low complexity region 763 775 N/A INTRINSIC
Pfam:DUF4704 872 1148 9.2e-32 PFAM
low complexity region 1149 1163 N/A INTRINSIC
low complexity region 1366 1382 N/A INTRINSIC
low complexity region 1522 1537 N/A INTRINSIC
Pfam:DUF4800 1590 1856 1.5e-112 PFAM
low complexity region 1882 1911 N/A INTRINSIC
Pfam:PH_BEACH 1922 2009 3.1e-21 PFAM
Beach 2061 2341 5.2e-205 SMART
WD40 2439 2484 1.03e1 SMART
WD40 2487 2526 6.19e-5 SMART
WD40 2538 2577 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167320
SMART Domains Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 56 84 N/A INTRINSIC
low complexity region 192 201 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 514 522 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
low complexity region 763 775 N/A INTRINSIC
Pfam:DUF4704 872 1148 9.2e-32 PFAM
low complexity region 1149 1163 N/A INTRINSIC
low complexity region 1366 1382 N/A INTRINSIC
low complexity region 1522 1537 N/A INTRINSIC
Pfam:DUF4800 1590 1856 1.5e-112 PFAM
low complexity region 1882 1911 N/A INTRINSIC
Pfam:PH_BEACH 1922 2009 3.1e-21 PFAM
Beach 2061 2341 5.2e-205 SMART
WD40 2439 2484 1.03e1 SMART
WD40 2487 2526 6.19e-5 SMART
WD40 2538 2577 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167320
SMART Domains Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 56 84 N/A INTRINSIC
low complexity region 192 201 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 514 522 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
low complexity region 763 775 N/A INTRINSIC
Pfam:DUF4704 872 1148 9.2e-32 PFAM
low complexity region 1149 1163 N/A INTRINSIC
low complexity region 1366 1382 N/A INTRINSIC
low complexity region 1522 1537 N/A INTRINSIC
Pfam:DUF4800 1590 1856 1.5e-112 PFAM
low complexity region 1882 1911 N/A INTRINSIC
Pfam:PH_BEACH 1922 2009 3.1e-21 PFAM
Beach 2061 2341 5.2e-205 SMART
WD40 2439 2484 1.03e1 SMART
WD40 2487 2526 6.19e-5 SMART
WD40 2538 2577 1.02e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184024
Predicted Effect probably benign
Transcript: ENSMUST00000196488
SMART Domains Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 56 84 N/A INTRINSIC
low complexity region 192 201 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 487 495 N/A INTRINSIC
low complexity region 500 515 N/A INTRINSIC
Pfam:Laminin_G_3 551 791 5.3e-6 PFAM
low complexity region 987 1001 N/A INTRINSIC
low complexity region 1101 1109 N/A INTRINSIC
low complexity region 1122 1136 N/A INTRINSIC
low complexity region 1332 1348 N/A INTRINSIC
low complexity region 1488 1503 N/A INTRINSIC
low complexity region 1594 1620 N/A INTRINSIC
low complexity region 1848 1877 N/A INTRINSIC
Pfam:PH_BEACH 1881 1975 3.1e-25 PFAM
Beach 2027 2307 3.8e-209 SMART
WD40 2405 2450 6.3e-2 SMART
WD40 2453 2492 3.8e-7 SMART
WD40 2504 2543 6.5e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196488
SMART Domains Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 56 84 N/A INTRINSIC
low complexity region 192 201 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 487 495 N/A INTRINSIC
low complexity region 500 515 N/A INTRINSIC
Pfam:Laminin_G_3 551 791 5.3e-6 PFAM
low complexity region 987 1001 N/A INTRINSIC
low complexity region 1101 1109 N/A INTRINSIC
low complexity region 1122 1136 N/A INTRINSIC
low complexity region 1332 1348 N/A INTRINSIC
low complexity region 1488 1503 N/A INTRINSIC
low complexity region 1594 1620 N/A INTRINSIC
low complexity region 1848 1877 N/A INTRINSIC
Pfam:PH_BEACH 1881 1975 3.1e-25 PFAM
Beach 2027 2307 3.8e-209 SMART
WD40 2405 2450 6.3e-2 SMART
WD40 2453 2492 3.8e-7 SMART
WD40 2504 2543 6.5e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196488
SMART Domains Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 56 84 N/A INTRINSIC
low complexity region 192 201 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 487 495 N/A INTRINSIC
low complexity region 500 515 N/A INTRINSIC
Pfam:Laminin_G_3 551 791 5.3e-6 PFAM
low complexity region 987 1001 N/A INTRINSIC
low complexity region 1101 1109 N/A INTRINSIC
low complexity region 1122 1136 N/A INTRINSIC
low complexity region 1332 1348 N/A INTRINSIC
low complexity region 1488 1503 N/A INTRINSIC
low complexity region 1594 1620 N/A INTRINSIC
low complexity region 1848 1877 N/A INTRINSIC
Pfam:PH_BEACH 1881 1975 3.1e-25 PFAM
Beach 2027 2307 3.8e-209 SMART
WD40 2405 2450 6.3e-2 SMART
WD40 2453 2492 3.8e-7 SMART
WD40 2504 2543 6.5e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000196488
SMART Domains Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
low complexity region 56 84 N/A INTRINSIC
low complexity region 192 201 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
low complexity region 487 495 N/A INTRINSIC
low complexity region 500 515 N/A INTRINSIC
Pfam:Laminin_G_3 551 791 5.3e-6 PFAM
low complexity region 987 1001 N/A INTRINSIC
low complexity region 1101 1109 N/A INTRINSIC
low complexity region 1122 1136 N/A INTRINSIC
low complexity region 1332 1348 N/A INTRINSIC
low complexity region 1488 1503 N/A INTRINSIC
low complexity region 1594 1620 N/A INTRINSIC
low complexity region 1848 1877 N/A INTRINSIC
Pfam:PH_BEACH 1881 1975 3.1e-25 PFAM
Beach 2027 2307 3.8e-209 SMART
WD40 2405 2450 6.3e-2 SMART
WD40 2453 2492 3.8e-7 SMART
WD40 2504 2543 6.5e-8 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (89/89)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null mice exhibit megakaryocyte and platelet abnormalities resulting in impaired arterial thrombus formation and protection from infarction following cerebral ischemia. Wound repair is impaired. These abnormalities result in a bleeding disorder similiar to Gray Platelet Syndrome. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss3 T A 10: 106,959,156 (GRCm39) T97S probably benign Het
Adcy1 T C 11: 7,094,729 (GRCm39) S552P possibly damaging Het
Arrb1 T C 7: 99,231,472 (GRCm39) F9L probably damaging Het
Auts2 G C 5: 131,468,931 (GRCm39) D571E probably damaging Het
C2cd3 T A 7: 100,093,652 (GRCm39) probably benign Het
Ccbe1 T G 18: 66,424,723 (GRCm39) T35P possibly damaging Het
Cct6b G T 11: 82,644,469 (GRCm39) T202K possibly damaging Het
Cd86 A T 16: 36,441,235 (GRCm39) S77R probably damaging Het
Cdk5rap3 A T 11: 96,799,579 (GRCm39) L412Q possibly damaging Het
Cdsn G A 17: 35,866,452 (GRCm39) G327D probably damaging Het
Cfap54 C T 10: 92,768,559 (GRCm39) R188H probably benign Het
Clca3a2 T A 3: 144,522,494 (GRCm39) I176F probably benign Het
Cop1 T C 1: 159,152,606 (GRCm39) probably null Het
Cpne8 T A 15: 90,453,771 (GRCm39) probably benign Het
Ctsg T A 14: 56,339,196 (GRCm39) I21F probably damaging Het
Cyp2j9 T G 4: 96,457,043 (GRCm39) N476T possibly damaging Het
Dcaf4 G A 12: 83,582,762 (GRCm39) probably benign Het
Dennd4c T C 4: 86,746,387 (GRCm39) probably null Het
Des A G 1: 75,338,810 (GRCm39) E195G possibly damaging Het
Dicer1 A T 12: 104,671,057 (GRCm39) L995* probably null Het
Dnah10 A G 5: 124,877,955 (GRCm39) K2623R possibly damaging Het
Dnajc21 G T 15: 10,461,963 (GRCm39) T146K probably benign Het
Dnmbp A C 19: 43,891,158 (GRCm39) L203R probably damaging Het
Eif4g1 C T 16: 20,504,648 (GRCm39) S829F probably damaging Het
Enkur T C 2: 21,194,115 (GRCm39) I153V probably benign Het
Epb41l3 G T 17: 69,517,379 (GRCm39) probably null Het
Erf T C 7: 24,944,500 (GRCm39) Y277C possibly damaging Het
Fcsk G A 8: 111,618,735 (GRCm39) T341M possibly damaging Het
Fstl5 T A 3: 76,555,742 (GRCm39) probably benign Het
Galnt16 T C 12: 80,639,243 (GRCm39) V419A probably damaging Het
Gm10226 A G 17: 21,910,963 (GRCm39) D66G possibly damaging Het
Gm15821 T A 17: 34,431,199 (GRCm39) probably benign Het
Grm3 A G 5: 9,561,452 (GRCm39) probably null Het
Il11ra1 A G 4: 41,768,187 (GRCm39) E366G probably damaging Het
Impdh2 A G 9: 108,438,860 (GRCm39) D71G probably damaging Het
Ipo11 A C 13: 106,970,971 (GRCm39) probably benign Het
Ipo8 A G 6: 148,712,209 (GRCm39) C261R probably damaging Het
Iqsec3 T C 6: 121,450,089 (GRCm39) D145G possibly damaging Het
Itga11 T C 9: 62,681,377 (GRCm39) F998L probably benign Het
Junb T C 8: 85,704,415 (GRCm39) H215R probably benign Het
Kcnh4 C T 11: 100,637,758 (GRCm39) G633E probably benign Het
Kcnn3 CGCAGCAGCAGCAGCAGCAGCAG CGCAGCAGCAGCAGCAGCAG 3: 89,427,972 (GRCm39) probably benign Het
Krt73 T C 15: 101,702,487 (GRCm39) S459G probably benign Het
Krt74 T A 15: 101,669,887 (GRCm39) noncoding transcript Het
Meis3 C A 7: 15,916,210 (GRCm39) probably benign Het
Mlh3 A G 12: 85,292,523 (GRCm39) probably benign Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Naip6 C T 13: 100,439,745 (GRCm39) E341K probably benign Het
Nfx1 T A 4: 41,015,321 (GRCm39) V842E probably benign Het
Oma1 T A 4: 103,223,209 (GRCm39) S465T possibly damaging Het
Opa1 A T 16: 29,433,887 (GRCm39) H574L probably damaging Het
Or10al2 T A 17: 37,983,378 (GRCm39) W155R probably damaging Het
Or6c210 T A 10: 129,496,269 (GRCm39) V198D probably benign Het
Or8c13 A G 9: 38,091,904 (GRCm39) C72R probably damaging Het
Otog T A 7: 45,937,637 (GRCm39) L1782* probably null Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Pcsk5 T C 19: 17,542,179 (GRCm39) N804S possibly damaging Het
Pde4a C A 9: 21,112,728 (GRCm39) probably benign Het
Pilra T A 5: 137,829,527 (GRCm39) D179V probably damaging Het
Piwil1 G A 5: 128,820,344 (GRCm39) S247N probably benign Het
Ppp2r1a G A 17: 21,165,846 (GRCm39) probably benign Het
Prss58 T G 6: 40,872,633 (GRCm39) T158P probably benign Het
Setmar T A 6: 108,053,377 (GRCm39) C290* probably null Het
Slc35e3 T C 10: 117,580,837 (GRCm39) M156V probably benign Het
Slc4a5 T A 6: 83,250,139 (GRCm39) I509N probably damaging Het
Slit2 G A 5: 48,414,198 (GRCm39) R938Q probably damaging Het
Snrpn A G 7: 59,634,830 (GRCm39) Y168H probably damaging Het
Sycn C T 7: 28,240,717 (GRCm39) A128V possibly damaging Het
Synm C A 7: 67,383,675 (GRCm39) R1329M possibly damaging Het
Syt8 T C 7: 141,992,926 (GRCm39) V152A probably benign Het
Tcp10a T C 17: 7,604,306 (GRCm39) M247T probably benign Het
Tjp2 A G 19: 24,086,059 (GRCm39) L821S probably damaging Het
Tppp2 G T 14: 52,156,866 (GRCm39) R81L possibly damaging Het
Trim34b A G 7: 103,985,784 (GRCm39) D473G possibly damaging Het
Trpc3 A G 3: 36,698,405 (GRCm39) I618T probably damaging Het
Trpm5 A T 7: 142,638,978 (GRCm39) D264E probably damaging Het
Tuba8 A T 6: 121,202,863 (GRCm39) D392V probably benign Het
Vmn1r50 C A 6: 90,084,782 (GRCm39) P176T probably damaging Het
Vmn1r76 T C 7: 11,665,194 (GRCm39) I7V probably benign Het
Vmn2r26 T A 6: 124,016,858 (GRCm39) W441R possibly damaging Het
Vmn2r57 T C 7: 41,049,157 (GRCm39) probably null Het
Zc3h4 T A 7: 16,168,565 (GRCm39) D891E unknown Het
Zfp120 A T 2: 149,959,512 (GRCm39) V270E possibly damaging Het
Znhit1 G C 5: 137,013,901 (GRCm39) R8G possibly damaging Het
Other mutations in Nbeal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Nbeal2 APN 9 110,464,937 (GRCm39) missense probably damaging 1.00
IGL00784:Nbeal2 APN 9 110,458,831 (GRCm39) splice site probably benign
IGL00826:Nbeal2 APN 9 110,455,971 (GRCm39) missense probably benign
IGL00885:Nbeal2 APN 9 110,467,729 (GRCm39) missense probably damaging 1.00
IGL01348:Nbeal2 APN 9 110,458,214 (GRCm39) missense probably damaging 0.99
IGL01511:Nbeal2 APN 9 110,458,302 (GRCm39) missense probably damaging 1.00
IGL01571:Nbeal2 APN 9 110,461,826 (GRCm39) missense possibly damaging 0.63
IGL01612:Nbeal2 APN 9 110,473,746 (GRCm39) missense probably damaging 1.00
IGL01924:Nbeal2 APN 9 110,460,482 (GRCm39) missense probably benign 0.23
IGL02056:Nbeal2 APN 9 110,456,392 (GRCm39) missense probably benign 0.17
IGL02481:Nbeal2 APN 9 110,455,063 (GRCm39) nonsense probably null
IGL02483:Nbeal2 APN 9 110,455,063 (GRCm39) nonsense probably null
IGL02502:Nbeal2 APN 9 110,462,836 (GRCm39) missense probably damaging 1.00
IGL02631:Nbeal2 APN 9 110,459,276 (GRCm39) missense probably damaging 0.99
IGL02637:Nbeal2 APN 9 110,455,045 (GRCm39) missense possibly damaging 0.62
IGL02727:Nbeal2 APN 9 110,468,353 (GRCm39) splice site probably benign
IGL02887:Nbeal2 APN 9 110,457,344 (GRCm39) missense probably damaging 1.00
IGL02896:Nbeal2 APN 9 110,468,360 (GRCm39) critical splice donor site probably null
IGL03110:Nbeal2 APN 9 110,460,501 (GRCm39) missense probably damaging 1.00
Antonym UTSW 9 110,459,320 (GRCm39) missense probably damaging 1.00
Beowulf UTSW 9 110,467,005 (GRCm39) missense possibly damaging 0.65
Blackmail UTSW 9 110,458,707 (GRCm39) missense probably damaging 1.00
dog UTSW 9 110,464,409 (GRCm39) missense possibly damaging 0.89
extortion UTSW 9 110,459,311 (GRCm39) missense probably damaging 1.00
legion UTSW 9 110,458,247 (GRCm39) missense probably damaging 1.00
litigious UTSW 9 110,457,263 (GRCm39) missense probably damaging 1.00
mall UTSW 9 110,461,954 (GRCm39) missense probably damaging 1.00
Mollusca UTSW 9 110,474,506 (GRCm39) splice site probably null
Schleuter UTSW 9 110,457,812 (GRCm39) missense possibly damaging 0.69
shellfish UTSW 9 110,457,788 (GRCm39) missense probably damaging 1.00
Sophomoric UTSW 9 110,462,115 (GRCm39) missense probably damaging 1.00
F5770:Nbeal2 UTSW 9 110,467,005 (GRCm39) missense possibly damaging 0.65
R0084:Nbeal2 UTSW 9 110,472,778 (GRCm39) critical splice donor site probably null
R0147:Nbeal2 UTSW 9 110,471,211 (GRCm39) nonsense probably null
R0294:Nbeal2 UTSW 9 110,461,927 (GRCm39) missense probably damaging 1.00
R0310:Nbeal2 UTSW 9 110,467,231 (GRCm39) missense probably damaging 1.00
R0494:Nbeal2 UTSW 9 110,456,255 (GRCm39) missense probably damaging 1.00
R0550:Nbeal2 UTSW 9 110,471,226 (GRCm39) missense probably benign 0.01
R0630:Nbeal2 UTSW 9 110,465,102 (GRCm39) splice site probably benign
R0762:Nbeal2 UTSW 9 110,472,876 (GRCm39) splice site probably benign
R0862:Nbeal2 UTSW 9 110,457,263 (GRCm39) missense probably damaging 1.00
R0864:Nbeal2 UTSW 9 110,457,263 (GRCm39) missense probably damaging 1.00
R1225:Nbeal2 UTSW 9 110,461,954 (GRCm39) missense probably damaging 1.00
R1240:Nbeal2 UTSW 9 110,456,176 (GRCm39) missense probably damaging 0.98
R1450:Nbeal2 UTSW 9 110,462,740 (GRCm39) splice site probably benign
R1519:Nbeal2 UTSW 9 110,465,373 (GRCm39) missense probably damaging 1.00
R1655:Nbeal2 UTSW 9 110,461,940 (GRCm39) missense probably damaging 1.00
R1668:Nbeal2 UTSW 9 110,467,961 (GRCm39) missense probably damaging 1.00
R1705:Nbeal2 UTSW 9 110,454,264 (GRCm39) missense probably damaging 1.00
R1784:Nbeal2 UTSW 9 110,459,925 (GRCm39) nonsense probably null
R1834:Nbeal2 UTSW 9 110,456,197 (GRCm39) missense probably damaging 1.00
R1997:Nbeal2 UTSW 9 110,461,266 (GRCm39) missense probably damaging 1.00
R2013:Nbeal2 UTSW 9 110,463,139 (GRCm39) missense probably benign 0.09
R2014:Nbeal2 UTSW 9 110,463,139 (GRCm39) missense probably benign 0.09
R2055:Nbeal2 UTSW 9 110,464,375 (GRCm39) missense possibly damaging 0.92
R2086:Nbeal2 UTSW 9 110,463,139 (GRCm39) missense probably benign 0.09
R2113:Nbeal2 UTSW 9 110,454,474 (GRCm39) missense probably damaging 1.00
R2167:Nbeal2 UTSW 9 110,467,376 (GRCm39) missense probably damaging 1.00
R2201:Nbeal2 UTSW 9 110,459,318 (GRCm39) missense probably benign 0.16
R2309:Nbeal2 UTSW 9 110,455,638 (GRCm39) missense probably damaging 1.00
R2378:Nbeal2 UTSW 9 110,459,876 (GRCm39) missense probably damaging 0.99
R2945:Nbeal2 UTSW 9 110,457,136 (GRCm39) missense possibly damaging 0.82
R3052:Nbeal2 UTSW 9 110,462,153 (GRCm39) missense possibly damaging 0.93
R3076:Nbeal2 UTSW 9 110,460,768 (GRCm39) missense probably damaging 1.00
R3176:Nbeal2 UTSW 9 110,465,955 (GRCm39) splice site probably benign
R3974:Nbeal2 UTSW 9 110,462,914 (GRCm39) missense probably damaging 1.00
R4183:Nbeal2 UTSW 9 110,465,743 (GRCm39) missense probably benign
R4342:Nbeal2 UTSW 9 110,460,861 (GRCm39) intron probably benign
R4654:Nbeal2 UTSW 9 110,461,072 (GRCm39) missense probably damaging 1.00
R4707:Nbeal2 UTSW 9 110,461,123 (GRCm39) missense probably benign 0.10
R4822:Nbeal2 UTSW 9 110,465,383 (GRCm39) missense possibly damaging 0.82
R4854:Nbeal2 UTSW 9 110,460,464 (GRCm39) missense probably damaging 1.00
R4860:Nbeal2 UTSW 9 110,464,262 (GRCm39) missense probably benign 0.00
R4860:Nbeal2 UTSW 9 110,464,262 (GRCm39) missense probably benign 0.00
R4990:Nbeal2 UTSW 9 110,463,871 (GRCm39) missense probably benign 0.10
R4991:Nbeal2 UTSW 9 110,467,835 (GRCm39) missense probably damaging 1.00
R5021:Nbeal2 UTSW 9 110,466,531 (GRCm39) missense probably damaging 0.99
R5057:Nbeal2 UTSW 9 110,460,073 (GRCm39) missense probably damaging 1.00
R5092:Nbeal2 UTSW 9 110,455,796 (GRCm39) splice site probably null
R5161:Nbeal2 UTSW 9 110,458,936 (GRCm39) missense probably benign
R5202:Nbeal2 UTSW 9 110,473,734 (GRCm39) missense probably damaging 0.99
R5217:Nbeal2 UTSW 9 110,461,158 (GRCm39) missense possibly damaging 0.56
R5408:Nbeal2 UTSW 9 110,466,588 (GRCm39) missense possibly damaging 0.91
R5540:Nbeal2 UTSW 9 110,460,801 (GRCm39) missense probably damaging 1.00
R5866:Nbeal2 UTSW 9 110,460,560 (GRCm39) missense probably damaging 1.00
R5925:Nbeal2 UTSW 9 110,458,948 (GRCm39) missense probably benign 0.00
R6057:Nbeal2 UTSW 9 110,470,945 (GRCm39) missense possibly damaging 0.81
R6180:Nbeal2 UTSW 9 110,454,215 (GRCm39) missense probably damaging 1.00
R6191:Nbeal2 UTSW 9 110,457,058 (GRCm39) critical splice donor site probably null
R6232:Nbeal2 UTSW 9 110,467,802 (GRCm39) missense probably damaging 1.00
R6372:Nbeal2 UTSW 9 110,457,812 (GRCm39) missense possibly damaging 0.69
R6423:Nbeal2 UTSW 9 110,455,062 (GRCm39) missense probably damaging 1.00
R6543:Nbeal2 UTSW 9 110,473,526 (GRCm39) missense probably benign
R6648:Nbeal2 UTSW 9 110,466,710 (GRCm39) missense probably damaging 1.00
R6722:Nbeal2 UTSW 9 110,462,060 (GRCm39) missense probably damaging 1.00
R6738:Nbeal2 UTSW 9 110,465,973 (GRCm39) missense possibly damaging 0.93
R6916:Nbeal2 UTSW 9 110,455,176 (GRCm39) missense probably damaging 1.00
R6935:Nbeal2 UTSW 9 110,468,459 (GRCm39) missense probably damaging 1.00
R7022:Nbeal2 UTSW 9 110,467,686 (GRCm39) missense probably damaging 1.00
R7023:Nbeal2 UTSW 9 110,467,686 (GRCm39) missense probably damaging 1.00
R7050:Nbeal2 UTSW 9 110,457,788 (GRCm39) missense probably damaging 1.00
R7072:Nbeal2 UTSW 9 110,455,119 (GRCm39) missense probably benign 0.01
R7073:Nbeal2 UTSW 9 110,455,177 (GRCm39) missense probably damaging 0.99
R7099:Nbeal2 UTSW 9 110,474,506 (GRCm39) splice site probably null
R7354:Nbeal2 UTSW 9 110,458,247 (GRCm39) missense probably damaging 1.00
R7394:Nbeal2 UTSW 9 110,459,257 (GRCm39) critical splice donor site probably null
R7397:Nbeal2 UTSW 9 110,457,100 (GRCm39) missense possibly damaging 0.78
R7552:Nbeal2 UTSW 9 110,482,985 (GRCm39) missense probably benign 0.16
R7619:Nbeal2 UTSW 9 110,454,886 (GRCm39) missense probably benign 0.19
R7821:Nbeal2 UTSW 9 110,459,320 (GRCm39) missense probably damaging 1.00
R7902:Nbeal2 UTSW 9 110,466,615 (GRCm39) missense probably benign
R7923:Nbeal2 UTSW 9 110,460,514 (GRCm39) nonsense probably null
R8018:Nbeal2 UTSW 9 110,458,225 (GRCm39) unclassified probably benign
R8190:Nbeal2 UTSW 9 110,455,158 (GRCm39) missense probably benign 0.04
R8297:Nbeal2 UTSW 9 110,464,409 (GRCm39) missense possibly damaging 0.89
R8404:Nbeal2 UTSW 9 110,463,457 (GRCm39) missense possibly damaging 0.48
R8502:Nbeal2 UTSW 9 110,463,457 (GRCm39) missense possibly damaging 0.48
R8737:Nbeal2 UTSW 9 110,456,949 (GRCm39) missense probably damaging 1.00
R8782:Nbeal2 UTSW 9 110,459,873 (GRCm39) missense probably benign 0.04
R8807:Nbeal2 UTSW 9 110,458,707 (GRCm39) missense probably damaging 1.00
R8877:Nbeal2 UTSW 9 110,459,311 (GRCm39) missense probably damaging 1.00
R9057:Nbeal2 UTSW 9 110,456,218 (GRCm39) missense probably benign
R9267:Nbeal2 UTSW 9 110,462,115 (GRCm39) missense probably damaging 1.00
R9313:Nbeal2 UTSW 9 110,463,436 (GRCm39) missense probably damaging 1.00
R9352:Nbeal2 UTSW 9 110,456,916 (GRCm39) missense probably benign 0.03
R9482:Nbeal2 UTSW 9 110,463,066 (GRCm39) missense probably benign 0.25
R9533:Nbeal2 UTSW 9 110,473,729 (GRCm39) missense probably benign 0.01
R9566:Nbeal2 UTSW 9 110,457,989 (GRCm39) missense probably benign 0.00
R9769:Nbeal2 UTSW 9 110,455,347 (GRCm39) missense probably benign 0.01
V7583:Nbeal2 UTSW 9 110,467,005 (GRCm39) missense possibly damaging 0.65
X0017:Nbeal2 UTSW 9 110,473,346 (GRCm39) missense probably benign 0.02
X0065:Nbeal2 UTSW 9 110,473,481 (GRCm39) splice site probably benign
Z1088:Nbeal2 UTSW 9 110,461,440 (GRCm39) missense possibly damaging 0.51
Z1176:Nbeal2 UTSW 9 110,467,903 (GRCm39) missense probably benign
Z1176:Nbeal2 UTSW 9 110,454,884 (GRCm39) missense probably benign 0.01
Z1177:Nbeal2 UTSW 9 110,458,922 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGGATGACCGACAACAGATGCTAC -3'
(R):5'- AGCATGGAGAGTCAAACATGGCTTG -3'

Sequencing Primer
(F):5'- CATGGAAGATGGCTACAGCCC -3'
(R):5'- TTGAGCCACTGTAGCTTCC -3'
Posted On 2013-07-11