Incidental Mutation 'R5750:Vwa2'
ID 445994
Institutional Source Beutler Lab
Gene Symbol Vwa2
Ensembl Gene ENSMUSG00000025082
Gene Name von Willebrand factor A domain containing 2
Synonyms Amaco
MMRRC Submission 043356-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5750 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 56862848-56900510 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 56897663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 656 (G656V)
Ref Sequence ENSEMBL: ENSMUSP00000026068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026068] [ENSMUST00000111584] [ENSMUST00000118800] [ENSMUST00000122359]
AlphaFold Q70UZ7
Predicted Effect probably benign
Transcript: ENSMUST00000026068
AA Change: G656V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082
AA Change: G656V

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (55/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmat G A 4: 141,476,998 (GRCm39) V135I probably benign Het
Agr3 T C 12: 35,996,941 (GRCm39) Y72H probably benign Het
Ankhd1 T A 18: 36,757,955 (GRCm39) M883K probably benign Het
Cpeb1 A T 7: 81,086,099 (GRCm39) D9E probably benign Het
Creb3l1 C T 2: 91,816,608 (GRCm39) V386M possibly damaging Het
Dnlz C T 2: 26,241,423 (GRCm39) V102M probably damaging Het
Esp4 C T 17: 40,913,286 (GRCm39) T51M probably benign Het
Fap C A 2: 62,359,058 (GRCm39) C443F probably damaging Het
Fbxo17 G A 7: 28,436,897 (GRCm39) R284H probably damaging Het
Fpr1 T A 17: 18,097,525 (GRCm39) I155F probably benign Het
Fshr T A 17: 89,293,669 (GRCm39) L336F probably benign Het
Gna15 G A 10: 81,345,230 (GRCm39) Q212* probably null Het
Hk1 A G 10: 62,110,245 (GRCm39) F785L possibly damaging Het
Ints8 T A 4: 11,241,654 (GRCm39) Q263L possibly damaging Het
Itgax T C 7: 127,743,878 (GRCm39) F880L probably benign Het
Kcnq4 A C 4: 120,572,246 (GRCm39) V327G probably damaging Het
Kdm4a A G 4: 117,999,396 (GRCm39) probably benign Het
Leng8 C T 7: 4,145,119 (GRCm39) S173L probably benign Het
Lrrc37a C T 11: 103,348,923 (GRCm39) D2591N unknown Het
Macrod2 T A 2: 141,357,240 (GRCm39) S179T probably benign Het
Map4k2 T A 19: 6,401,367 (GRCm39) S612R probably benign Het
Mast2 A G 4: 116,166,086 (GRCm39) probably benign Het
Micall2 C T 5: 139,701,456 (GRCm39) probably null Het
Miga2 T A 2: 30,261,577 (GRCm39) W191R probably damaging Het
Mterf1b T C 5: 4,246,683 (GRCm39) I108T probably damaging Het
Myh2 A G 11: 67,082,254 (GRCm39) I1319V probably benign Het
Nalcn T C 14: 123,809,450 (GRCm39) E234G probably benign Het
Ncoa4 T A 14: 31,899,264 (GRCm39) C602* probably null Het
Ntrk2 C A 13: 58,956,736 (GRCm39) P65Q probably benign Het
Or52z15 G A 7: 103,332,362 (GRCm39) V136I possibly damaging Het
Or6c215 C T 10: 129,637,489 (GRCm39) V302M probably benign Het
P3h1 A T 4: 119,095,863 (GRCm39) I324F probably damaging Het
Peli2 G T 14: 48,493,632 (GRCm39) V285L possibly damaging Het
Qser1 A G 2: 104,619,268 (GRCm39) S515P probably damaging Het
Rnf31 C T 14: 55,836,143 (GRCm39) R721C probably damaging Het
Rps5 A G 7: 12,659,334 (GRCm39) K42E probably damaging Het
Rufy4 A T 1: 74,172,068 (GRCm39) T264S probably benign Het
Shq1 A T 6: 100,588,775 (GRCm39) V259D possibly damaging Het
Slc22a3 T C 17: 12,652,395 (GRCm39) I410V probably benign Het
Stx5a T C 19: 8,732,501 (GRCm39) probably benign Het
Syne1 G T 10: 5,289,209 (GRCm39) H1430Q probably benign Het
Tasor2 G A 13: 3,623,642 (GRCm39) Q1421* probably null Het
Tmem126b A C 7: 90,118,865 (GRCm39) V141G probably damaging Het
Trim52 C A 14: 106,344,932 (GRCm39) Q197K probably benign Het
Tshz1 A G 18: 84,032,086 (GRCm39) L774P possibly damaging Het
Ttn T C 2: 76,602,031 (GRCm39) S10217G possibly damaging Het
Unc45a A G 7: 79,984,571 (GRCm39) V228A probably benign Het
Unc93a2 C T 17: 7,637,130 (GRCm39) V133I probably benign Het
Xpo5 T C 17: 46,529,556 (GRCm39) probably null Het
Zeb2 T A 2: 44,887,530 (GRCm39) Q494L 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
R5081:Vwa2 UTSW 19 56,897,752 (GRCm39) missense probably damaging 1.00
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'- TGATGTGACACAGGTTGGC -3'
(R):5'- AGGGCCCTAACAGATGTGTTC -3'

Sequencing Primer
(F):5'- TTCGGGCTAGACACCCATC -3'
(R):5'- AGGGCCCTAACAGATGTGTTCTTATC -3'
Posted On 2016-11-21