Incidental Mutation 'IGL02727:Nbeal2'
ID 305275
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nbeal2
Ensembl Gene ENSMUSG00000056724
Gene Name neurobeachin-like 2
Synonyms 1110014F23Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.256) question?
Stock # IGL02727
Quality Score
Status
Chromosome 9
Chromosomal Location 110453857-110483229 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 110468353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133191] [ENSMUST00000149089] [ENSMUST00000167320] [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: 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 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
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,226,724 (GRCm39) T13A probably benign Het
Aldh1l2 T A 10: 83,342,469 (GRCm39) K447I probably damaging Het
Ankrd17 A G 5: 90,392,151 (GRCm39) S1840P possibly damaging Het
Ash1l A G 3: 88,930,344 (GRCm39) I1940M probably benign Het
Bfar T G 16: 13,506,791 (GRCm39) probably null Het
Bicra G T 7: 15,713,390 (GRCm39) H937Q possibly damaging Het
Brip1 A T 11: 86,043,562 (GRCm39) M334K probably benign Het
Camsap2 T G 1: 136,232,050 (GRCm39) M182L probably benign Het
Chd6 A T 2: 160,811,383 (GRCm39) C1407S probably damaging Het
Cmya5 A G 13: 93,234,753 (GRCm39) S112P possibly damaging Het
Csmd1 A T 8: 16,281,341 (GRCm39) V728E probably damaging Het
Cyp2j6 T A 4: 96,434,001 (GRCm39) Q103L probably benign Het
Ddias A T 7: 92,515,830 (GRCm39) I21K probably damaging Het
Derl2 A C 11: 70,904,036 (GRCm39) probably benign Het
Dgka A T 10: 128,558,317 (GRCm39) probably benign Het
Dusp11 T C 6: 85,938,474 (GRCm39) D15G probably damaging Het
Enpp2 T C 15: 54,773,577 (GRCm39) D110G probably damaging Het
Fkbp11 A T 15: 98,622,471 (GRCm39) V134E probably damaging Het
Gm3248 T C 14: 5,945,036 (GRCm38) T49A probably damaging Het
Gm57858 T A 3: 36,087,065 (GRCm39) R176S possibly damaging Het
Irag2 T C 6: 145,120,344 (GRCm39) S520P possibly damaging Het
Luzp2 T C 7: 54,821,939 (GRCm39) probably benign Het
Manea T A 4: 26,328,126 (GRCm39) E305V probably damaging Het
Manea C A 4: 26,328,127 (GRCm39) E305* probably null Het
Megf6 A G 4: 154,337,606 (GRCm39) probably null Het
Mrpl3 G T 9: 104,931,726 (GRCm39) D59Y probably damaging Het
Myh9 T C 15: 77,675,942 (GRCm39) Y248C probably benign Het
Or10a5 G T 7: 106,635,902 (GRCm39) C180F probably damaging Het
Or1f19 T A 16: 3,411,190 (GRCm39) I310K probably benign Het
Or2y1c G T 11: 49,361,893 (GRCm39) G305V probably benign Het
Or8b40 A G 9: 38,027,808 (GRCm39) T239A probably damaging Het
Pax8 C A 2: 24,331,642 (GRCm39) C147F probably damaging Het
Phf12 T C 11: 77,914,493 (GRCm39) V96A possibly damaging Het
Psg18 A T 7: 18,079,875 (GRCm39) I442K probably damaging Het
Pygl T A 12: 70,254,442 (GRCm39) probably null Het
Rassf2 C A 2: 131,846,307 (GRCm39) R150L probably benign Het
Rdh7 A T 10: 127,723,487 (GRCm39) W123R probably damaging Het
Saal1 T C 7: 46,339,223 (GRCm39) probably null Het
Sall1 T C 8: 89,757,383 (GRCm39) D907G probably damaging Het
Spag1 T A 15: 36,234,964 (GRCm39) F876I probably damaging Het
Syncrip G A 9: 88,361,932 (GRCm39) A61V probably damaging Het
Trbv3 A T 6: 41,025,576 (GRCm39) K55N probably benign Het
Vmn1r178 A G 7: 23,593,871 (GRCm39) probably null Het
Vmn2r84 T C 10: 130,229,995 (GRCm39) D39G 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
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
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
Posted On 2015-04-16