Incidental Mutation 'R5217:Nbeal2'
ID 403549
Institutional Source Beutler Lab
Gene Symbol Nbeal2
Ensembl Gene ENSMUSG00000056724
Gene Name neurobeachin-like 2
Synonyms 1110014F23Rik
MMRRC Submission 042790-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.265) question?
Stock # R5217 (G1)
Quality Score 94
Status Validated
Chromosome 9
Chromosomal Location 110453857-110483229 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 110461158 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 1635 (A1635E)
Ref Sequence ENSEMBL: ENSMUSP00000128586 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133191] [ENSMUST00000167320] [ENSMUST00000196488]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000123996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126088
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129095
Predicted Effect unknown
Transcript: ENSMUST00000130024
AA Change: A916E
SMART Domains Protein: ENSMUSP00000118061
Gene: ENSMUSG00000056724
AA Change: A916E

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: ENSMUST00000131017
SMART Domains Protein: ENSMUSP00000114660
Gene: ENSMUSG00000056724

DomainStartEndE-ValueType
Pfam:DUF4800 1 209 7.5e-97 PFAM
low complexity region 235 264 N/A INTRINSIC
Pfam:PH_BEACH 275 362 1e-21 PFAM
Beach 414 694 5.2e-205 SMART
WD40 762 807 1.03e1 SMART
WD40 810 849 6.19e-5 SMART
WD40 861 900 1.02e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133191
AA Change: A1628E

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121373
Gene: ENSMUSG00000056724
AA Change: A1628E

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 noncoding transcript
Transcript: ENSMUST00000138072
Predicted Effect possibly damaging
Transcript: ENSMUST00000167320
AA Change: A1635E

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128586
Gene: ENSMUSG00000056724
AA Change: A1635E

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: ENSMUST00000196488
AA Change: A1601E

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143265
Gene: ENSMUSG00000056724
AA Change: A1601E

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 noncoding transcript
Transcript: ENSMUST00000184024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153960
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 100% (80/80)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933428M09Rik G T X: 138,080,282 (GRCm39) G16* probably null Het
Abhd11 T A 5: 135,040,398 (GRCm39) W144R probably damaging Het
Abhd2 A G 7: 78,973,378 (GRCm39) E119G probably benign Het
Acbd3 A G 1: 180,553,938 (GRCm39) Y91C probably benign Het
Aox4 C A 1: 58,285,400 (GRCm39) S628* probably null Het
Bahcc1 T A 11: 120,165,285 (GRCm39) Y905* probably null Het
Baiap2l2 T G 15: 79,154,687 (GRCm39) S211R probably benign Het
Cab39l T A 14: 59,764,258 (GRCm39) Y206* probably null Het
Cacna1i A T 15: 80,275,041 (GRCm39) T1830S possibly damaging Het
Catsperg1 A T 7: 28,889,723 (GRCm39) L793* probably null Het
Cdh10 G T 15: 18,966,108 (GRCm39) V198F probably damaging Het
Cenpk A T 13: 104,385,917 (GRCm39) I271F probably damaging Het
Chchd4 A T 6: 91,442,260 (GRCm39) C53S probably damaging Het
Cluh T G 11: 74,550,531 (GRCm39) C252W probably damaging Het
Cmklr1 G T 5: 113,752,710 (GRCm39) A97E probably damaging Het
Coil C A 11: 88,871,987 (GRCm39) A116D possibly damaging Het
Eif1ad9 A G 12: 88,296,196 (GRCm39) H58R probably benign Het
F830045P16Rik C A 2: 129,305,493 (GRCm39) V294F probably damaging Het
Fgd6 T A 10: 93,969,939 (GRCm39) M1196K possibly damaging Het
Gabra5 G A 7: 57,140,604 (GRCm39) S31L probably benign Het
Gm7135 A T 1: 97,362,790 (GRCm39) noncoding transcript Het
Gon4l C A 3: 88,794,882 (GRCm39) T695K probably damaging Het
Hectd4 A G 5: 121,491,614 (GRCm39) H3684R possibly damaging Het
Ica1l T A 1: 60,054,917 (GRCm39) M105L probably benign Het
Ift70a1 A G 2: 75,811,147 (GRCm39) L312P probably damaging Het
Igkv8-24 A T 6: 70,194,386 (GRCm39) V7D probably damaging Het
Klf10 G A 15: 38,296,331 (GRCm39) R420W probably damaging Het
Klrc2 C A 6: 129,633,843 (GRCm39) W177C probably damaging Het
Krit1 T A 5: 3,856,451 (GRCm39) C15* probably null Het
Lamc1 C A 1: 153,103,442 (GRCm39) V1375L probably damaging Het
Lrrc37a C T 11: 103,347,780 (GRCm39) V2972I unknown Het
Mapkapk5 T C 5: 121,672,492 (GRCm39) D13G probably damaging Het
Mcph1 T A 8: 18,838,489 (GRCm39) L804I probably damaging Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mrto4 A G 4: 139,075,770 (GRCm39) Y119H probably benign Het
Ndc1 T C 4: 107,246,773 (GRCm39) S399P probably benign Het
Ndufv2 A G 17: 66,394,424 (GRCm39) I147T probably damaging Het
Neb C A 2: 52,052,142 (GRCm39) E382* probably null Het
Nhsl3 C T 4: 129,116,478 (GRCm39) E729K probably damaging Het
Nme8 T A 13: 19,880,861 (GRCm39) I32F probably damaging Het
Obox5 T A 7: 15,491,793 (GRCm39) probably null Het
Or8g23 A G 9: 38,971,065 (GRCm39) V299A probably benign Het
Pcdhb19 A T 18: 37,630,939 (GRCm39) M245L probably benign Het
Pex5l A T 3: 33,061,477 (GRCm39) probably null Het
Phrf1 T G 7: 140,840,616 (GRCm39) D1270E probably damaging Het
Pik3r5 A G 11: 68,382,790 (GRCm39) K277E possibly damaging Het
Ppan T C 9: 20,802,221 (GRCm39) V204A possibly damaging Het
Ppp1r9a A T 6: 5,115,367 (GRCm39) N830I probably damaging Het
Pxn C G 5: 115,682,974 (GRCm39) A92G probably benign Het
Qsox1 A G 1: 155,666,742 (GRCm39) V249A probably benign Het
Rgl3 T A 9: 21,898,944 (GRCm39) *88C probably null Het
Rps6kc1 A T 1: 190,515,802 (GRCm39) W975R probably damaging Het
Sash1 G T 10: 8,656,368 (GRCm39) A208D possibly damaging Het
Simc1 A T 13: 54,687,709 (GRCm39) probably benign Het
Sox7 T C 14: 64,185,449 (GRCm39) Y162H probably damaging Het
Srp72 T A 5: 77,128,375 (GRCm39) L171H probably damaging Het
Stab1 T A 14: 30,881,476 (GRCm39) Y577F probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tagln T C 9: 45,842,177 (GRCm39) T139A probably benign Het
Thbs3 T C 3: 89,130,471 (GRCm39) probably null Het
Tmem216 G A 19: 10,529,155 (GRCm39) T131M possibly damaging Het
Tmprss11c A G 5: 86,404,249 (GRCm39) V142A probably benign Het
Trarg1 C G 11: 76,585,102 (GRCm39) A164G possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubtf T C 11: 102,199,128 (GRCm39) M511V probably null Het
Ugt2b36 A T 5: 87,214,114 (GRCm39) V510E probably damaging Het
Vars2 G C 17: 35,969,041 (GRCm39) P887A probably damaging Het
Vmn2r80 A G 10: 79,004,980 (GRCm39) M206V possibly damaging Het
Zbtb5 A G 4: 44,993,990 (GRCm39) F465L probably benign Het
Zfp119a G A 17: 56,172,425 (GRCm39) Q473* probably null Het
Zfp607a T G 7: 27,577,269 (GRCm39) I113R probably damaging Het
Zfp998 A T 13: 66,581,787 (GRCm39) L28H probably damaging Het
Zmym6 C A 4: 126,999,167 (GRCm39) N450K 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
R0032:Nbeal2 UTSW 9 110,466,936 (GRCm39) splice site probably benign
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
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'- TCAAAGAAGGTGGGGCTTCC -3'
(R):5'- ACATCCTATTGGAAGACCCACAGG -3'

Sequencing Primer
(F):5'- CTTCCATTGGTGGGTGGTAAGGAG -3'
(R):5'- TGGAAGACCCACAGGCAAGC -3'
Posted On 2016-07-22