Incidental Mutation 'R2346:Vwa1'
ID 245944
Institutional Source Beutler Lab
Gene Symbol Vwa1
Ensembl Gene ENSMUSG00000042116
Gene Name von Willebrand factor A domain containing 1
Synonyms 4932416A11Rik, WARP
MMRRC Submission 040329-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2346 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155852952-155859042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155857526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 91 (Y91H)
Ref Sequence ENSEMBL: ENSMUSP00000040405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042196]
AlphaFold Q8R2Z5
Predicted Effect probably benign
Transcript: ENSMUST00000042196
AA Change: Y91H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000040405
Gene: ENSMUSG00000042116
AA Change: Y91H

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
VWA 32 210 3.05e-36 SMART
FN3 212 292 1.95e0 SMART
FN3 305 385 1.4e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180784
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 100% (21/21)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal motor coordination/balance, increased thermal nociceptive threshold, and altered peripheral nerve structure and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC051665 T C 13: 60,931,774 (GRCm39) probably benign Het
Ces1a C T 8: 93,751,947 (GRCm39) V396M probably benign Het
Dnm2 T C 9: 21,378,852 (GRCm39) L137P probably damaging Het
Elf2 A G 3: 51,164,865 (GRCm39) S380P probably benign Het
Fbxw15 T C 9: 109,394,500 (GRCm39) Y105C probably damaging Het
Gm12588 T C 11: 121,796,994 (GRCm39) Y285C probably benign Het
Gm21276 T A 7: 38,467,575 (GRCm39) noncoding transcript Het
Kat2b A G 17: 53,917,932 (GRCm39) N97S probably benign Het
Mus81 A G 19: 5,534,991 (GRCm39) probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or8a1b T C 9: 37,622,661 (GRCm39) R305G possibly damaging Het
Pkhd1l1 C A 15: 44,423,902 (GRCm39) A3148E possibly damaging Het
Prkar2b T C 12: 32,022,149 (GRCm39) N212S probably benign Het
Rp1 T A 1: 4,418,236 (GRCm39) T959S probably damaging Het
Samd4 G A 14: 47,122,299 (GRCm39) G8R probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skiv2l-ps1 A G 17: 34,989,076 (GRCm39) noncoding transcript Het
Vmn1r20 A G 6: 57,408,931 (GRCm39) M86V possibly damaging Het
Zan A G 5: 137,420,129 (GRCm39) S2843P unknown Het
Zbtb39 A T 10: 127,577,450 (GRCm39) Q8L possibly damaging Het
Other mutations in Vwa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Vwa1 APN 4 155,855,200 (GRCm39) critical splice donor site probably null
IGL01611:Vwa1 APN 4 155,855,255 (GRCm39) missense possibly damaging 0.64
R1174:Vwa1 UTSW 4 155,857,723 (GRCm39) missense probably damaging 0.96
R1433:Vwa1 UTSW 4 155,857,358 (GRCm39) missense probably damaging 0.99
R1953:Vwa1 UTSW 4 155,857,571 (GRCm39) missense probably damaging 1.00
R2006:Vwa1 UTSW 4 155,855,307 (GRCm39) missense probably benign
R2105:Vwa1 UTSW 4 155,857,250 (GRCm39) missense probably damaging 1.00
R3891:Vwa1 UTSW 4 155,857,651 (GRCm39) missense probably damaging 1.00
R4919:Vwa1 UTSW 4 155,855,057 (GRCm39) missense probably benign 0.10
R5285:Vwa1 UTSW 4 155,855,352 (GRCm39) missense probably benign 0.38
R5320:Vwa1 UTSW 4 155,855,369 (GRCm39) missense probably benign 0.00
R5554:Vwa1 UTSW 4 155,857,695 (GRCm39) missense probably damaging 1.00
R5666:Vwa1 UTSW 4 155,858,922 (GRCm39) missense probably damaging 1.00
R5670:Vwa1 UTSW 4 155,858,922 (GRCm39) missense probably damaging 1.00
R6433:Vwa1 UTSW 4 155,857,226 (GRCm39) missense probably benign 0.07
R8135:Vwa1 UTSW 4 155,857,351 (GRCm39) missense probably damaging 1.00
R8400:Vwa1 UTSW 4 155,857,225 (GRCm39) missense probably benign 0.03
R8784:Vwa1 UTSW 4 155,857,345 (GRCm39) missense probably damaging 1.00
R8965:Vwa1 UTSW 4 155,857,440 (GRCm39) nonsense probably null
R9062:Vwa1 UTSW 4 155,854,820 (GRCm39) missense probably benign
R9306:Vwa1 UTSW 4 155,855,328 (GRCm39) missense probably benign 0.15
R9518:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9519:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9597:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9634:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9697:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9699:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9702:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9703:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9755:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9800:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
R9801:Vwa1 UTSW 4 155,857,336 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCCTTGAGCTCCTGCATAGG -3'
(R):5'- TAGGTTCCACAGCATCAGACCC -3'

Sequencing Primer
(F):5'- CCACGGGGTCGCTGGAG -3'
(R):5'- AGCATCAGACCCCCAGG -3'
Posted On 2014-10-30