Incidental Mutation 'R0098:Vwc2l'
ID 17350
Institutional Source Beutler Lab
Gene Symbol Vwc2l
Ensembl Gene ENSMUSG00000045648
Gene Name von Willebrand factor C domain-containing protein 2-like
Synonyms Brl, A830006F12Rik, brorin-like
MMRRC Submission 038384-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0098 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 70764874-70924556 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70768290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 71 (Y71C)
Ref Sequence ENSEMBL: ENSMUSP00000123819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053922] [ENSMUST00000065425] [ENSMUST00000161937] [ENSMUST00000162182]
AlphaFold Q505H4
Predicted Effect probably damaging
Transcript: ENSMUST00000053922
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058142
Gene: ENSMUSG00000045648
AA Change: Y118C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWC 53 109 4.18e0 SMART
VWC 116 171 2.49e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065425
SMART Domains Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153

DomainStartEndE-ValueType
low complexity region 45 55 N/A INTRINSIC
coiled coil region 146 190 N/A INTRINSIC
WD40 349 388 7.8e-2 SMART
WD40 391 430 6.23e-10 SMART
WD40 433 472 1.34e-9 SMART
WD40 475 514 1.92e-10 SMART
WD40 517 556 2.38e-6 SMART
WD40 559 598 1.42e2 SMART
WD40 600 639 4.83e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161310
Predicted Effect probably damaging
Transcript: ENSMUST00000161937
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125014
Gene: ENSMUSG00000045648
AA Change: Y118C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:VWC_def 53 109 2e-35 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000162182
AA Change: Y71C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123819
Gene: ENSMUSG00000045648
AA Change: Y71C

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:VWC_def 33 62 4e-12 BLAST
VWC 69 124 2.49e-5 SMART
Meta Mutation Damage Score 0.3018 question?
Coding Region Coverage
  • 1x: 90.4%
  • 3x: 88.1%
  • 10x: 82.9%
  • 20x: 75.6%
Validation Efficiency 93% (78/84)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik A T 17: 36,207,309 (GRCm39) probably benign Het
Acad9 T C 3: 36,127,689 (GRCm39) I97T probably damaging Het
Adam32 T A 8: 25,404,405 (GRCm39) Y200F possibly damaging Het
Adcy4 T C 14: 56,007,284 (GRCm39) N976S possibly damaging Het
Adgrb2 C G 4: 129,901,624 (GRCm39) P416R probably damaging Het
Alpk2 A G 18: 65,482,982 (GRCm39) L342S probably damaging Het
Ambra1 T A 2: 91,598,056 (GRCm39) H72Q possibly damaging Het
Ankrd10 T C 8: 11,662,560 (GRCm39) H391R probably benign Het
Arfgef3 A G 10: 18,465,390 (GRCm39) V2151A probably damaging Het
Atm T C 9: 53,429,869 (GRCm39) D389G probably benign Het
Atp10b A T 11: 43,080,431 (GRCm39) S236C probably benign Het
B3gat1 C T 9: 26,668,237 (GRCm39) R276C probably damaging Het
Bcl9l C T 9: 44,416,914 (GRCm39) P251S probably benign Het
Cdhr5 C A 7: 140,849,781 (GRCm39) G331W probably damaging Het
Cmklr1 T C 5: 113,752,531 (GRCm39) T157A probably benign Het
Cndp1 T A 18: 84,646,949 (GRCm39) E246D probably damaging Het
Cntn4 A G 6: 106,595,385 (GRCm39) probably benign Het
Crebbp A G 16: 3,909,792 (GRCm39) L1078P probably damaging Het
Cyp20a1 G T 1: 60,426,413 (GRCm39) E452* probably null Het
Emb T C 13: 117,404,034 (GRCm39) V262A probably damaging Het
Ephb1 C T 9: 101,918,339 (GRCm39) R390H probably damaging Het
Faf1 T C 4: 109,792,696 (GRCm39) L556S probably damaging Het
Fat2 T C 11: 55,189,431 (GRCm39) T1196A probably damaging Het
Fbf1 A T 11: 116,038,945 (GRCm39) probably null Het
Gid8 T A 2: 180,356,528 (GRCm39) I55N possibly damaging Het
Hexa T C 9: 59,465,383 (GRCm39) Y213H probably damaging Het
Igf2bp1 T C 11: 95,863,989 (GRCm39) K234E probably damaging Het
Ighv1-58 C T 12: 115,275,919 (GRCm39) G73E probably benign Het
Kalrn A T 16: 33,795,989 (GRCm39) I1262K possibly damaging Het
Lrp1 C T 10: 127,388,607 (GRCm39) V3281I probably benign Het
Lrp2 T C 2: 69,305,756 (GRCm39) D2935G probably damaging Het
Lypd6 T A 2: 50,080,792 (GRCm39) V160E probably benign Het
Muc19 C T 15: 91,777,101 (GRCm39) noncoding transcript Het
Nrxn3 A G 12: 89,226,971 (GRCm39) D202G probably damaging Het
Nxn A T 11: 76,169,420 (GRCm39) probably benign Het
Or5b107 T A 19: 13,143,026 (GRCm39) I216K probably benign Het
Palld C A 8: 61,978,120 (GRCm39) G890V probably damaging Het
Pcx C A 19: 4,651,775 (GRCm39) probably benign Het
Pik3c2g T C 6: 139,639,441 (GRCm39) S416P unknown Het
Ppa2 C T 3: 133,076,234 (GRCm39) probably benign Het
Ppp1r18 A G 17: 36,178,888 (GRCm39) I254M probably benign Het
Prune2 A G 19: 17,101,267 (GRCm39) E2257G possibly damaging Het
Rd3 A G 1: 191,717,261 (GRCm39) M244V probably benign Het
Rfx5 T A 3: 94,865,679 (GRCm39) V326E probably damaging Het
Rgs3 G C 4: 62,544,143 (GRCm39) R305P probably damaging Het
Rpp40 A G 13: 36,082,970 (GRCm39) Y173H probably benign Het
Ryr3 T C 2: 112,731,376 (GRCm39) N645D probably damaging Het
Sema3e T C 5: 14,302,446 (GRCm39) V657A possibly damaging Het
Serpina3n T A 12: 104,379,777 (GRCm39) V390E probably damaging Het
Shank1 A G 7: 43,962,709 (GRCm39) Y141C unknown Het
Smg1 A T 7: 117,744,690 (GRCm39) M3154K probably benign Het
Tdrd12 A G 7: 35,175,418 (GRCm39) L996P probably damaging Het
Tfrc G T 16: 32,442,244 (GRCm39) V490F probably damaging Het
Tie1 T C 4: 118,343,784 (GRCm39) S53G probably benign Het
Topaz1 T C 9: 122,619,188 (GRCm39) Y1262H possibly damaging Het
Ttc3 A T 16: 94,191,124 (GRCm39) H222L probably benign Het
Ubxn8 T C 8: 34,125,393 (GRCm39) probably benign Het
Unk A G 11: 115,940,995 (GRCm39) Y252C probably damaging Het
Zfp386 T A 12: 116,022,834 (GRCm39) L184* probably null Het
Other mutations in Vwc2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Vwc2l APN 1 70,768,070 (GRCm39) missense probably damaging 0.96
IGL01328:Vwc2l APN 1 70,768,163 (GRCm39) splice site probably null
IGL01875:Vwc2l APN 1 70,768,172 (GRCm39) missense probably benign 0.02
R3617:Vwc2l UTSW 1 70,768,041 (GRCm39) splice site probably null
R4533:Vwc2l UTSW 1 70,921,298 (GRCm39) missense probably damaging 0.97
R5002:Vwc2l UTSW 1 70,768,205 (GRCm39) missense probably damaging 0.97
R5345:Vwc2l UTSW 1 70,768,077 (GRCm39) missense probably damaging 1.00
R5790:Vwc2l UTSW 1 70,790,142 (GRCm39) missense probably damaging 0.98
R6196:Vwc2l UTSW 1 70,768,180 (GRCm39) missense probably damaging 0.99
R7104:Vwc2l UTSW 1 70,768,252 (GRCm39) nonsense probably null
R8863:Vwc2l UTSW 1 70,768,063 (GRCm39) missense possibly damaging 0.63
R9373:Vwc2l UTSW 1 70,768,218 (GRCm39) missense probably damaging 0.97
R9411:Vwc2l UTSW 1 70,767,980 (GRCm39) missense probably benign 0.43
Z1177:Vwc2l UTSW 1 70,768,126 (GRCm39) missense probably damaging 1.00
Posted On 2013-01-20