Incidental Mutation 'R5081:Vwa2'
ID 387163
Institutional Source Beutler Lab
Gene Symbol Vwa2
Ensembl Gene ENSMUSG00000025082
Gene Name von Willebrand factor A domain containing 2
Synonyms Amaco
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5081 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 56862848-56900510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56897752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 686 (H686Y)
Ref Sequence ENSEMBL: ENSMUSP00000026068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026068] [ENSMUST00000111584] [ENSMUST00000118800] [ENSMUST00000122359]
AlphaFold Q70UZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000026068
AA Change: H686Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082
AA Change: H686Y

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
VWA 49 222 6.9e-35 SMART
EGF 297 332 2.99e-4 SMART
VWA 340 517 1.26e-28 SMART
VWA 528 705 1.55e-37 SMART
EGF 714 747 5e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111584
SMART Domains Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083

DomainStartEndE-ValueType
Blast:PH 30 153 3e-60 BLAST
low complexity region 160 170 N/A INTRINSIC
PH 194 291 9.27e-9 SMART
PH 372 467 3.11e-10 SMART
low complexity region 531 543 N/A INTRINSIC
low complexity region 611 626 N/A INTRINSIC
coiled coil region 675 772 N/A INTRINSIC
low complexity region 791 804 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118800
SMART Domains Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083

DomainStartEndE-ValueType
Blast:PH 12 135 3e-60 BLAST
low complexity region 142 152 N/A INTRINSIC
PH 176 273 9.27e-9 SMART
PH 354 449 3.11e-10 SMART
low complexity region 513 525 N/A INTRINSIC
low complexity region 593 608 N/A INTRINSIC
coiled coil region 657 754 N/A INTRINSIC
low complexity region 773 786 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122359
SMART Domains Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083

DomainStartEndE-ValueType
Blast:PH 1 79 3e-32 BLAST
low complexity region 86 96 N/A INTRINSIC
PH 120 217 9.27e-9 SMART
PH 298 393 3.11e-10 SMART
low complexity region 457 469 N/A INTRINSIC
low complexity region 537 552 N/A INTRINSIC
coiled coil region 601 698 N/A INTRINSIC
low complexity region 717 730 N/A INTRINSIC
Meta Mutation Damage Score 0.5378 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Other mutations in Vwa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Vwa2 APN 19 56,890,066 (GRCm39) missense probably damaging 0.98
IGL02081:Vwa2 APN 19 56,890,668 (GRCm39) missense probably benign 0.00
IGL02738:Vwa2 APN 19 56,886,361 (GRCm39) missense possibly damaging 0.62
H8786:Vwa2 UTSW 19 56,898,164 (GRCm39) missense possibly damaging 0.90
R0510:Vwa2 UTSW 19 56,886,500 (GRCm39) splice site probably benign
R1061:Vwa2 UTSW 19 56,897,426 (GRCm39) missense probably benign 0.35
R1350:Vwa2 UTSW 19 56,897,558 (GRCm39) missense probably damaging 1.00
R1403:Vwa2 UTSW 19 56,869,570 (GRCm39) missense unknown
R1403:Vwa2 UTSW 19 56,869,570 (GRCm39) missense unknown
R1918:Vwa2 UTSW 19 56,897,366 (GRCm39) missense probably benign 0.07
R2046:Vwa2 UTSW 19 56,894,010 (GRCm39) missense probably benign 0.08
R3943:Vwa2 UTSW 19 56,897,747 (GRCm39) missense probably damaging 1.00
R4278:Vwa2 UTSW 19 56,891,915 (GRCm39) missense probably benign 0.00
R4745:Vwa2 UTSW 19 56,895,318 (GRCm39) missense probably benign
R5750:Vwa2 UTSW 19 56,897,663 (GRCm39) missense probably benign 0.00
R5959:Vwa2 UTSW 19 56,869,604 (GRCm39) missense possibly damaging 0.96
R6151:Vwa2 UTSW 19 56,891,897 (GRCm39) critical splice acceptor site probably null
R6361:Vwa2 UTSW 19 56,889,958 (GRCm39) critical splice acceptor site probably null
R6861:Vwa2 UTSW 19 56,890,025 (GRCm39) missense probably benign 0.03
R7286:Vwa2 UTSW 19 56,897,791 (GRCm39) missense probably benign
R7653:Vwa2 UTSW 19 56,897,767 (GRCm39) missense probably benign 0.00
R7752:Vwa2 UTSW 19 56,897,672 (GRCm39) missense probably damaging 1.00
R8038:Vwa2 UTSW 19 56,886,320 (GRCm39) missense probably benign 0.43
R8501:Vwa2 UTSW 19 56,897,414 (GRCm39) missense probably benign 0.24
R8674:Vwa2 UTSW 19 56,875,427 (GRCm39) missense possibly damaging 0.71
R9167:Vwa2 UTSW 19 56,899,063 (GRCm39) missense probably benign 0.07
R9460:Vwa2 UTSW 19 56,886,388 (GRCm39) missense probably benign 0.00
R9526:Vwa2 UTSW 19 56,895,208 (GRCm39) missense probably benign 0.18
X0020:Vwa2 UTSW 19 56,897,633 (GRCm39) missense probably damaging 1.00
X0066:Vwa2 UTSW 19 56,875,417 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACAAGGTGATGACGGTCCAG -3'
(R):5'- CACATGGTCGGTAACACTGGAG -3'

Sequencing Primer
(F):5'- TGACGGTCCAGAGGGGTG -3'
(R):5'- TCGGTAACACTGGAGAAGTTTG -3'
Posted On 2016-06-06