Incidental Mutation 'IGL02343:Vwc2'
ID 289192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vwc2
Ensembl Gene ENSMUSG00000050830
Gene Name von Willebrand factor C domain containing 2
Synonyms cradin, A930041G11Rik, Brorin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL02343
Quality Score
Status
Chromosome 11
Chromosomal Location 11064223-11218931 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11066532 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 207 (C207S)
Ref Sequence ENSEMBL: ENSMUSP00000128761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056344] [ENSMUST00000109681] [ENSMUST00000129670]
AlphaFold Q8C8N3
Predicted Effect probably damaging
Transcript: ENSMUST00000056344
AA Change: C207S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049692
Gene: ENSMUSG00000050830
AA Change: C207S

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 89 107 N/A INTRINSIC
low complexity region 118 129 N/A INTRINSIC
low complexity region 132 143 N/A INTRINSIC
VWC 154 210 7.52e-2 SMART
VWC 217 272 3.84e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109681
AA Change: C207S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105303
Gene: ENSMUSG00000050830
AA Change: C207S

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 89 107 N/A INTRINSIC
low complexity region 118 129 N/A INTRINSIC
low complexity region 132 143 N/A INTRINSIC
VWC 154 210 7.52e-2 SMART
VWC 217 272 3.84e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129670
AA Change: C207S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128761
Gene: ENSMUSG00000050830
AA Change: C207S

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 89 107 N/A INTRINSIC
low complexity region 118 129 N/A INTRINSIC
low complexity region 132 143 N/A INTRINSIC
VWC 154 210 7.52e-2 SMART
VWC 217 272 3.84e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154155
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 T A 2: 22,977,507 (GRCm39) N168K possibly damaging Het
Aig1 T C 10: 13,744,418 (GRCm39) M29V probably damaging Het
Albfm1 C A 5: 90,727,473 (GRCm39) H364N probably damaging Het
Apba2 A G 7: 64,344,894 (GRCm39) E28G probably damaging Het
Bglap3 T C 3: 88,276,423 (GRCm39) N45S possibly damaging Het
Cables2 A G 2: 179,902,072 (GRCm39) probably null Het
Cd109 A G 9: 78,596,237 (GRCm39) probably benign Het
Cdk1 T C 10: 69,176,331 (GRCm39) N259D probably benign Het
Ces1h A G 8: 94,078,654 (GRCm39) *563R probably null Het
Cfap46 C T 7: 139,262,425 (GRCm39) A115T probably damaging Het
Cry2 A T 2: 92,257,266 (GRCm39) V101E possibly damaging Het
Cyp4a31 A G 4: 115,421,026 (GRCm39) Y38C probably damaging Het
Dip2a T C 10: 76,155,312 (GRCm39) Y130C probably benign Het
Eps8l1 A G 7: 4,475,123 (GRCm39) T366A probably benign Het
Esr2 C T 12: 76,192,119 (GRCm39) R303H probably benign Het
Fbxo41 T G 6: 85,455,153 (GRCm39) L617F possibly damaging Het
Fbxw15 A T 9: 109,381,723 (GRCm39) probably benign Het
Lrriq1 T A 10: 103,070,024 (GRCm39) probably benign Het
Me1 A T 9: 86,536,694 (GRCm39) probably null Het
Moxd1 G A 10: 24,155,762 (GRCm39) V289I probably damaging Het
Muc19 T G 15: 91,778,428 (GRCm39) noncoding transcript Het
Myo15b A G 11: 115,764,226 (GRCm39) probably benign Het
Nav1 A T 1: 135,382,490 (GRCm39) L1264* probably null Het
Nhlrc4 T C 17: 26,162,335 (GRCm39) *137W probably null Het
Nrxn3 A G 12: 88,762,123 (GRCm39) T57A probably damaging Het
Or10g3 T A 14: 52,609,934 (GRCm39) D192V probably damaging Het
Orc2 A T 1: 58,508,825 (GRCm39) probably null Het
Rpap2 G A 5: 107,766,047 (GRCm39) probably null Het
S100a9 T C 3: 90,602,531 (GRCm39) H21R probably damaging Het
Spz1 T A 13: 92,712,054 (GRCm39) M141L probably benign Het
Stk40 A G 4: 126,030,695 (GRCm39) Y305C probably damaging Het
Stra6l A G 4: 45,869,588 (GRCm39) Q218R probably damaging Het
T C A 17: 8,658,732 (GRCm39) probably benign Het
Tep1 T C 14: 51,066,704 (GRCm39) D2298G probably damaging Het
Trim40 A T 17: 37,200,030 (GRCm39) L16Q probably benign Het
Tubb4a T C 17: 57,388,538 (GRCm39) I163V probably benign Het
Zfp407 A G 18: 84,227,849 (GRCm39) I1920T possibly damaging Het
Zfp429 T C 13: 67,538,844 (GRCm39) E200G probably damaging Het
Zfp451 C T 1: 33,815,574 (GRCm39) C792Y probably damaging Het
Other mutations in Vwc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1386:Vwc2 UTSW 11 11,104,262 (GRCm39) missense probably damaging 1.00
R1874:Vwc2 UTSW 11 11,211,495 (GRCm39) missense probably damaging 0.97
R4072:Vwc2 UTSW 11 11,066,446 (GRCm39) missense probably damaging 1.00
R4426:Vwc2 UTSW 11 11,104,235 (GRCm39) missense probably damaging 0.96
R4427:Vwc2 UTSW 11 11,104,235 (GRCm39) missense probably damaging 0.96
R5914:Vwc2 UTSW 11 11,104,244 (GRCm39) missense probably damaging 1.00
R6765:Vwc2 UTSW 11 11,104,215 (GRCm39) missense probably benign 0.21
R6927:Vwc2 UTSW 11 11,104,250 (GRCm39) missense probably damaging 1.00
R7623:Vwc2 UTSW 11 11,066,415 (GRCm39) missense probably damaging 0.99
R7734:Vwc2 UTSW 11 11,065,929 (GRCm39) missense possibly damaging 0.91
R9582:Vwc2 UTSW 11 11,066,129 (GRCm39) missense probably benign 0.45
Posted On 2015-04-16