Incidental Mutation 'R1405:Vwa5b2'
ID 500233
Institutional Source Beutler Lab
Gene Symbol Vwa5b2
Ensembl Gene ENSMUSG00000046613
Gene Name von Willebrand factor A domain containing 5B2
Synonyms EG328644
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # R1405 (G1)
Quality Score 220
Status Not validated
Chromosome 16
Chromosomal Location 20408221-20424127 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20423066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1021 (D1021E)
Ref Sequence ENSEMBL: ENSMUSP00000123727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045918] [ENSMUST00000096197] [ENSMUST00000123774] [ENSMUST00000159780] [ENSMUST00000147867] [ENSMUST00000232451] [ENSMUST00000231386] [ENSMUST00000231387] [ENSMUST00000231471] [ENSMUST00000231362] [ENSMUST00000231749] [ENSMUST00000232319] [ENSMUST00000231531] [ENSMUST00000231904] [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 probably benign
Transcript: ENSMUST00000096197
AA Change: D1021E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: D1021E

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 probably benign
Transcript: ENSMUST00000159780
AA Change: D1021E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: D1021E

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: ENSMUST00000232451
Predicted Effect probably benign
Transcript: ENSMUST00000231386
Predicted Effect probably benign
Transcript: ENSMUST00000231387
Predicted Effect probably benign
Transcript: ENSMUST00000231471
Predicted Effect probably benign
Transcript: ENSMUST00000231362
Predicted Effect probably benign
Transcript: ENSMUST00000231749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231608
Predicted Effect probably benign
Transcript: ENSMUST00000232319
Predicted Effect probably benign
Transcript: ENSMUST00000231531
Predicted Effect probably benign
Transcript: ENSMUST00000231904
Predicted Effect probably benign
Transcript: ENSMUST00000232458
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 96.7%
  • 10x: 83.5%
  • 20x: 53.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 G A 7: 101,047,643 (GRCm39) probably null Het
Asb8 G A 15: 98,039,248 (GRCm39) H51Y possibly damaging Het
Capn10 T G 1: 92,872,744 (GRCm39) V490G probably benign Het
Ccdc146 G A 5: 21,604,730 (GRCm39) S36L probably benign Het
Celsr1 C T 15: 85,789,635 (GRCm39) probably null Het
Clvs2 C A 10: 33,389,256 (GRCm39) *328L probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dstn A G 2: 143,780,356 (GRCm39) K19E probably damaging Het
Ehmt2 T A 17: 35,125,553 (GRCm39) H134Q probably benign Het
Faah G A 4: 115,858,345 (GRCm39) P411S probably damaging Het
Fn1 A G 1: 71,681,237 (GRCm39) F364L probably damaging Het
Gmnc A T 16: 26,779,196 (GRCm39) N270K possibly damaging Het
Grip2 A T 6: 91,765,133 (GRCm39) probably null Het
Hmg20a A T 9: 56,384,587 (GRCm39) Q119L possibly damaging Het
Ipo7 T C 7: 109,629,048 (GRCm39) I106T probably benign Het
Ipo7 C T 7: 109,638,456 (GRCm39) P241L probably damaging Het
Katnb1 T C 8: 95,824,801 (GRCm39) Y574H probably damaging Het
Larp6 A C 9: 60,644,849 (GRCm39) M330L probably benign Het
Lrrc8e T C 8: 4,281,754 (GRCm39) Y30H probably damaging Het
Nop56 T C 2: 130,119,868 (GRCm39) V420A probably benign Het
Nrg1 T C 8: 32,407,855 (GRCm39) D126G probably benign Het
Prdm1 T A 10: 44,315,961 (GRCm39) N725I probably damaging Het
Prl3a1 A G 13: 27,459,051 (GRCm39) probably null Het
Psmd2 T C 16: 20,471,034 (GRCm39) L59P possibly damaging Het
Ptgdr2 T C 19: 10,918,395 (GRCm39) V304A probably benign Het
Rasa3 A G 8: 13,638,027 (GRCm39) V339A possibly damaging Het
Sec24c G A 14: 20,742,593 (GRCm39) probably null Het
Serpinb9e A G 13: 33,444,009 (GRCm39) D343G probably benign Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Stab1 A C 14: 30,870,958 (GRCm39) V1297G probably benign Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tmprss2 G A 16: 97,398,005 (GRCm39) T57I probably benign Het
Tnrc6a A G 7: 122,770,301 (GRCm39) D697G probably damaging Het
Wdr46 C A 17: 34,168,057 (GRCm39) P543Q probably damaging Het
Zfp1005 T A 2: 150,109,620 (GRCm39) Y103* probably null Het
Zfp287 T A 11: 62,619,137 (GRCm39) D119V probably damaging Het
Zxdc A G 6: 90,361,225 (GRCm39) S737G possibly damaging 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
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
R1903: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'- ATTGGGCACAGATGGGCTTTGGAC -3'
(R):5'- TGAGGAATGCACACAGCAGCAC -3'

Sequencing Primer
(F):5'- GCTTTGGACCACTTGCTG -3'
(R):5'- CTTGCAGTCGTACCTGAGGAG -3'
Posted On 2017-12-01