Incidental Mutation 'R1903:Vwa5b2'
ID 209996
Institutional Source Beutler Lab
Gene Symbol Vwa5b2
Ensembl Gene ENSMUSG00000046613
Gene Name von Willebrand factor A domain containing 5B2
Synonyms EG328644
MMRRC Submission 039923-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R1903 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 20408221-20424127 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 20423582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 1165 (S1165I)
Ref Sequence ENSEMBL: ENSMUSP00000123727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045918] [ENSMUST00000096197] [ENSMUST00000123774] [ENSMUST00000159780] [ENSMUST00000147867] [ENSMUST00000231531] [ENSMUST00000231386] [ENSMUST00000231387] [ENSMUST00000231362] [ENSMUST00000231749] [ENSMUST00000232451] [ENSMUST00000231904] [ENSMUST00000232319] [ENSMUST00000231471] [ENSMUST00000232458]
AlphaFold Q3UR50
Predicted Effect probably benign
Transcript: ENSMUST00000045918
SMART Domains Protein: ENSMUSP00000045272
Gene: ENSMUSG00000033809

DomainStartEndE-ValueType
Pfam:ALG3 47 406 2.5e-145 PFAM
low complexity region 407 420 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000046188
Predicted Effect possibly damaging
Transcript: ENSMUST00000096197
AA Change: S1165I

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: S1165I

DomainStartEndE-ValueType
Pfam:VIT_2 2 79 7.3e-31 PFAM
VWA 352 521 3.16e-1 SMART
low complexity region 684 706 N/A INTRINSIC
low complexity region 725 733 N/A INTRINSIC
low complexity region 744 764 N/A INTRINSIC
low complexity region 780 797 N/A INTRINSIC
low complexity region 823 833 N/A INTRINSIC
low complexity region 1032 1046 N/A INTRINSIC
low complexity region 1127 1145 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117019
Predicted Effect probably benign
Transcript: ENSMUST00000123774
SMART Domains Protein: ENSMUSP00000123378
Gene: ENSMUSG00000033809

DomainStartEndE-ValueType
transmembrane domain 42 61 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127454
SMART Domains Protein: ENSMUSP00000120559
Gene: ENSMUSG00000033809

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Pfam:ALG3 51 118 2.1e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159780
AA Change: S1165I

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: S1165I

DomainStartEndE-ValueType
Pfam:VIT_2 2 79 5.5e-31 PFAM
VWA 352 521 3.16e-1 SMART
low complexity region 684 706 N/A INTRINSIC
low complexity region 725 733 N/A INTRINSIC
low complexity region 744 764 N/A INTRINSIC
low complexity region 780 797 N/A INTRINSIC
low complexity region 823 833 N/A INTRINSIC
low complexity region 1032 1046 N/A INTRINSIC
low complexity region 1127 1145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147867
Predicted Effect probably benign
Transcript: ENSMUST00000231531
Predicted Effect probably benign
Transcript: ENSMUST00000231386
Predicted Effect probably benign
Transcript: ENSMUST00000231387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231608
Predicted Effect probably benign
Transcript: ENSMUST00000231362
Predicted Effect probably benign
Transcript: ENSMUST00000231749
Predicted Effect probably benign
Transcript: ENSMUST00000232451
Predicted Effect probably benign
Transcript: ENSMUST00000231904
Predicted Effect probably benign
Transcript: ENSMUST00000232319
Predicted Effect probably benign
Transcript: ENSMUST00000231471
Predicted Effect probably benign
Transcript: ENSMUST00000232458
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.0%
  • 20x: 91.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A C 9: 57,165,635 (GRCm39) S246R possibly damaging Het
Abca13 C T 11: 9,416,411 (GRCm39) R4058C probably benign Het
Acacb A T 5: 114,303,795 (GRCm39) R73* probably null Het
Adam22 C T 5: 8,184,525 (GRCm39) C489Y probably damaging Het
Agap3 A T 5: 24,698,011 (GRCm39) K460I probably damaging Het
Ak4 T C 4: 101,320,833 (GRCm39) I214T possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arrb2 T A 11: 70,328,808 (GRCm39) H221Q probably damaging Het
Atl1 T G 12: 70,006,049 (GRCm39) F452V probably damaging Het
Atp8b5 A G 4: 43,357,063 (GRCm39) T604A probably damaging Het
Bglap3 T C 3: 88,276,068 (GRCm39) I95V probably benign Het
Ccdc88a G T 11: 29,411,788 (GRCm39) M532I probably benign Het
Ccnl1 A G 3: 65,854,332 (GRCm39) S430P possibly damaging Het
Cdhr18 C T 14: 13,829,657 (GRCm38) S695N possibly damaging Het
Cdk5rap2 A T 4: 70,321,791 (GRCm39) probably null Het
Cep126 A T 9: 8,120,748 (GRCm39) Y92N possibly damaging Het
Cfap44 A C 16: 44,242,737 (GRCm39) T714P probably benign Het
Cnga1 T G 5: 72,774,068 (GRCm39) D90A possibly damaging Het
Cnot1 T C 8: 96,469,749 (GRCm39) I1369V possibly damaging Het
Coq3 T C 4: 21,910,466 (GRCm39) S314P probably damaging Het
Crhr1 A G 11: 104,060,675 (GRCm39) R151G probably damaging Het
Crybg2 A G 4: 133,806,167 (GRCm39) I930V probably damaging Het
Ctcf T A 8: 106,402,620 (GRCm39) probably null Het
Dct T C 14: 118,271,690 (GRCm39) N380S probably benign Het
Decr2 A T 17: 26,306,387 (GRCm39) L83Q probably damaging Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dgkb T C 12: 38,216,776 (GRCm39) probably null Het
Dnah1 T C 14: 31,041,716 (GRCm39) D85G probably damaging Het
Dnah7a T C 1: 53,574,637 (GRCm39) D1709G probably damaging Het
Dnajc13 A C 9: 104,106,136 (GRCm39) L346R probably damaging Het
Dsc1 A T 18: 20,229,045 (GRCm39) V415D probably damaging Het
Duox2 T A 2: 122,125,832 (GRCm39) I296F probably damaging Het
Ece2 T A 16: 20,463,922 (GRCm39) L890H probably damaging Het
Ecsit A G 9: 21,987,815 (GRCm39) S75P possibly damaging Het
Enpp3 A G 10: 24,654,687 (GRCm39) C664R probably damaging Het
Evpl G T 11: 116,117,854 (GRCm39) D778E probably damaging Het
Eya3 T A 4: 132,448,663 (GRCm39) probably null Het
Fam217b A T 2: 178,062,374 (GRCm39) I113F probably benign Het
Galnt6 G A 15: 100,613,999 (GRCm39) P101S possibly damaging Het
Gm379 G A X: 107,707,870 (GRCm39) Q210* probably null Het
Grk4 A T 5: 34,833,531 (GRCm39) probably null Het
Gtf3c4 A G 2: 28,729,968 (GRCm39) V91A probably benign Het
Hcfc2 G T 10: 82,538,392 (GRCm39) G143V probably damaging Het
Heatr4 A C 12: 84,005,221 (GRCm39) H710Q probably damaging Het
Htr3a A T 9: 48,817,681 (GRCm39) D97E probably damaging Het
Htr4 T G 18: 62,561,193 (GRCm39) F151L probably benign Het
Il22ra1 A T 4: 135,478,219 (GRCm39) Q430L probably damaging Het
Invs T A 4: 48,402,824 (GRCm39) probably null Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Irs1 T C 1: 82,267,182 (GRCm39) S345G probably damaging Het
Kdm4a A G 4: 118,017,596 (GRCm39) V490A probably benign Het
Kif26a C T 12: 112,141,974 (GRCm39) R743C probably damaging Het
Kif28 A G 1: 179,530,088 (GRCm39) V691A possibly damaging Het
Klhl5 T A 5: 65,324,330 (GRCm39) L696Q probably benign Het
Krtap5-1 T C 7: 141,850,084 (GRCm39) probably benign Het
Lama2 A C 10: 27,064,395 (GRCm39) D1195E probably damaging Het
Lamb1 T G 12: 31,379,209 (GRCm39) L1722R probably damaging Het
Lrp11 T A 10: 7,499,544 (GRCm39) L245Q probably damaging Het
Ltbp2 T C 12: 84,876,879 (GRCm39) E422G probably benign Het
Man2b1 T A 8: 85,813,451 (GRCm39) D214E probably damaging Het
Mlxipl A T 5: 135,162,422 (GRCm39) D628V possibly damaging Het
Msantd5f6 T A 4: 73,321,675 (GRCm39) Y120F probably damaging Het
Myo18b G A 5: 112,840,624 (GRCm39) R2390C probably damaging Het
Mypn T A 10: 62,959,176 (GRCm39) R1048S probably benign Het
Napepld A G 5: 21,870,270 (GRCm39) S383P probably damaging Het
Napsa A G 7: 44,231,160 (GRCm39) T130A probably damaging Het
Nbr1 T C 11: 101,465,978 (GRCm39) I716T probably damaging Het
Nexn A T 3: 151,953,818 (GRCm39) M212K probably damaging Het
Nlrp9b T A 7: 19,757,182 (GRCm39) S140T probably benign Het
Nxpe2 T C 9: 48,230,906 (GRCm39) T488A probably benign Het
Or10g3 T G 14: 52,610,174 (GRCm39) Q112P possibly damaging Het
Or10v1 A T 19: 11,873,913 (GRCm39) Y176F probably benign Het
Or5ac25 A T 16: 59,182,526 (GRCm39) D18E probably benign Het
Or7g12 A T 9: 18,900,192 (GRCm39) K303* probably null Het
Or8k20 C T 2: 86,106,190 (GRCm39) V214I probably benign Het
Osbpl5 T C 7: 143,256,918 (GRCm39) D404G possibly damaging Het
Pan2 T G 10: 128,144,237 (GRCm39) L162R probably damaging Het
Parp1 G T 1: 180,416,235 (GRCm39) V545F probably damaging Het
Pcdh18 A G 3: 49,709,896 (GRCm39) V473A probably benign Het
Plb1 A T 5: 32,448,582 (GRCm39) N350I probably damaging Het
Polr1a A G 6: 71,944,898 (GRCm39) K1318R probably benign Het
Ppp1r18 C T 17: 36,184,738 (GRCm39) P130S probably damaging Het
Prss48 C T 3: 85,905,614 (GRCm39) W86* probably null Het
Rab3c A T 13: 110,220,744 (GRCm39) I137N probably damaging Het
Rab3gap2 G C 1: 184,954,099 (GRCm39) R57P probably benign Het
Rad54l2 A C 9: 106,570,916 (GRCm39) probably null Het
Ralgapb C A 2: 158,337,483 (GRCm39) N1147K probably benign Het
Rfx7 C T 9: 72,524,093 (GRCm39) R428C probably damaging Het
Robo1 A G 16: 72,757,092 (GRCm39) Q351R probably null Het
Samd4 T C 14: 47,311,585 (GRCm39) F81S probably damaging Het
Shprh T A 10: 11,059,541 (GRCm39) Y1097* probably null Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc24a4 T A 12: 102,097,876 (GRCm39) D79E probably benign Het
Slc7a13 A T 4: 19,839,254 (GRCm39) I286F probably benign Het
Smarca1 G A X: 46,938,840 (GRCm39) Q723* probably null Het
Spata31d1b T C 13: 59,865,882 (GRCm39) L1010P probably damaging Het
Sult2a1 T C 7: 13,569,900 (GRCm39) S111G possibly damaging Het
Tecpr2 C T 12: 110,914,346 (GRCm39) T1219M probably damaging Het
Tesk1 T C 4: 43,446,998 (GRCm39) M462T probably benign Het
Thoc2l T A 5: 104,666,196 (GRCm39) S239R probably benign Het
Tmem171 C A 13: 98,822,924 (GRCm39) G292* probably null Het
Tmtc2 G T 10: 105,025,969 (GRCm39) T833N probably benign Het
Tnc G T 4: 63,918,299 (GRCm39) T1204K probably benign Het
Tnfaip3 T C 10: 18,883,937 (GRCm39) K148E probably benign Het
Tnrc18 G A 5: 142,800,895 (GRCm39) S21F probably damaging Het
Tns4 T C 11: 98,966,401 (GRCm39) T425A probably damaging Het
Tox T A 4: 6,688,948 (GRCm39) Y472F probably damaging Het
Trak2 A T 1: 58,958,014 (GRCm39) probably null Het
Trim33 T A 3: 103,244,760 (GRCm39) Y716N probably damaging Het
Trrap T G 5: 144,752,863 (GRCm39) I1813R probably damaging Het
Ttc29 A G 8: 78,978,361 (GRCm39) E137G probably benign Het
Ube2j2 A G 4: 156,033,483 (GRCm39) K19R probably benign Het
Ubxn2b T C 4: 6,208,889 (GRCm39) I206T possibly damaging Het
Usp40 A G 1: 87,909,778 (GRCm39) F559L probably benign Het
Utp4 T A 8: 107,638,982 (GRCm39) probably null Het
Vac14 A G 8: 111,409,166 (GRCm39) N524S probably benign Het
Vps13c T C 9: 67,801,334 (GRCm39) S605P probably damaging Het
Zdhhc19 C T 16: 32,317,231 (GRCm39) R28* probably null Het
Zfp106 T C 2: 120,357,329 (GRCm39) I1189V probably benign Het
Zfp189 C T 4: 49,529,511 (GRCm39) Q205* probably null Het
Other mutations in Vwa5b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Vwa5b2 APN 16 20,423,020 (GRCm39) missense probably benign
IGL01543:Vwa5b2 APN 16 20,414,466 (GRCm39) missense probably benign 0.02
IGL01719:Vwa5b2 APN 16 20,416,183 (GRCm39) critical splice donor site probably null
IGL02006:Vwa5b2 APN 16 20,415,843 (GRCm39) missense probably damaging 0.97
IGL02150:Vwa5b2 APN 16 20,423,576 (GRCm39) missense probably benign
IGL02301:Vwa5b2 APN 16 20,423,540 (GRCm39) missense probably damaging 1.00
IGL02373:Vwa5b2 APN 16 20,423,594 (GRCm39) missense probably damaging 0.99
IGL02413:Vwa5b2 APN 16 20,416,851 (GRCm39) missense probably damaging 1.00
IGL02664:Vwa5b2 APN 16 20,414,063 (GRCm39) unclassified probably benign
R1171:Vwa5b2 UTSW 16 20,423,734 (GRCm39) missense probably benign
R1405:Vwa5b2 UTSW 16 20,423,066 (GRCm39) missense probably benign 0.00
R1405:Vwa5b2 UTSW 16 20,423,066 (GRCm39) missense probably benign 0.00
R1464:Vwa5b2 UTSW 16 20,415,019 (GRCm39) missense probably benign 0.08
R1464:Vwa5b2 UTSW 16 20,415,019 (GRCm39) missense probably benign 0.08
R1730:Vwa5b2 UTSW 16 20,419,675 (GRCm39) missense probably damaging 1.00
R1901:Vwa5b2 UTSW 16 20,423,582 (GRCm39) missense possibly damaging 0.77
R1902:Vwa5b2 UTSW 16 20,423,582 (GRCm39) missense possibly damaging 0.77
R1959:Vwa5b2 UTSW 16 20,420,941 (GRCm39) critical splice donor site probably null
R1961:Vwa5b2 UTSW 16 20,420,941 (GRCm39) critical splice donor site probably null
R3522:Vwa5b2 UTSW 16 20,420,358 (GRCm39) missense probably damaging 0.99
R3687:Vwa5b2 UTSW 16 20,410,308 (GRCm39) unclassified probably benign
R3746:Vwa5b2 UTSW 16 20,417,076 (GRCm39) intron probably benign
R3747:Vwa5b2 UTSW 16 20,417,076 (GRCm39) intron probably benign
R3749:Vwa5b2 UTSW 16 20,417,076 (GRCm39) intron probably benign
R3952:Vwa5b2 UTSW 16 20,417,111 (GRCm39) makesense probably null
R4641:Vwa5b2 UTSW 16 20,423,393 (GRCm39) missense probably damaging 1.00
R4646:Vwa5b2 UTSW 16 20,415,079 (GRCm39) missense probably damaging 1.00
R4772:Vwa5b2 UTSW 16 20,419,553 (GRCm39) splice site probably null
R5032:Vwa5b2 UTSW 16 20,419,459 (GRCm39) missense probably damaging 1.00
R5286:Vwa5b2 UTSW 16 20,415,058 (GRCm39) missense probably damaging 1.00
R5569:Vwa5b2 UTSW 16 20,414,089 (GRCm39) missense probably damaging 1.00
R5585:Vwa5b2 UTSW 16 20,413,428 (GRCm39) nonsense probably null
R5640:Vwa5b2 UTSW 16 20,416,292 (GRCm39) missense probably damaging 1.00
R6330:Vwa5b2 UTSW 16 20,420,727 (GRCm39) missense probably damaging 1.00
R6459:Vwa5b2 UTSW 16 20,413,429 (GRCm39) missense probably damaging 0.98
R6992:Vwa5b2 UTSW 16 20,416,952 (GRCm39) missense probably damaging 1.00
R7102:Vwa5b2 UTSW 16 20,422,984 (GRCm39) missense probably benign 0.00
R7231:Vwa5b2 UTSW 16 20,422,878 (GRCm39) missense probably benign 0.00
R7591:Vwa5b2 UTSW 16 20,420,317 (GRCm39) missense probably damaging 0.96
R7765:Vwa5b2 UTSW 16 20,413,361 (GRCm39) missense probably benign
R8269:Vwa5b2 UTSW 16 20,423,188 (GRCm39) missense probably damaging 1.00
R8311:Vwa5b2 UTSW 16 20,409,972 (GRCm39) missense probably damaging 1.00
R8707:Vwa5b2 UTSW 16 20,412,965 (GRCm39) missense probably benign 0.01
R8716:Vwa5b2 UTSW 16 20,415,026 (GRCm39) missense probably benign 0.00
R8815:Vwa5b2 UTSW 16 20,419,516 (GRCm39) missense probably damaging 1.00
R8965:Vwa5b2 UTSW 16 20,415,076 (GRCm39) missense possibly damaging 0.72
R9245:Vwa5b2 UTSW 16 20,416,890 (GRCm39) missense probably damaging 1.00
R9431:Vwa5b2 UTSW 16 20,423,046 (GRCm39) missense probably benign 0.00
R9536:Vwa5b2 UTSW 16 20,414,449 (GRCm39) missense probably damaging 1.00
R9695:Vwa5b2 UTSW 16 20,422,975 (GRCm39) missense probably benign
R9727:Vwa5b2 UTSW 16 20,423,477 (GRCm39) missense probably damaging 1.00
Z1176:Vwa5b2 UTSW 16 20,410,003 (GRCm39) missense probably damaging 0.99
Z1177:Vwa5b2 UTSW 16 20,419,401 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGCATCATCTCCTTGGGC -3'
(R):5'- ACATTCGAAGGGCTGTAACAC -3'

Sequencing Primer
(F):5'- GGCATTTCTGAGCCCTGG -3'
(R):5'- CAGCAAGTGTAGCTGCAGATTCTG -3'
Posted On 2014-06-30