Incidental Mutation 'R7532:Vcl'
ID 583385
Institutional Source Beutler Lab
Gene Symbol Vcl
Ensembl Gene ENSMUSG00000021823
Gene Name vinculin
Synonyms metavinculin
MMRRC Submission 045604-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7532 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 20979466-21083744 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21079392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 965 (A965D)
Ref Sequence ENSEMBL: ENSMUSP00000022369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022369] [ENSMUST00000154460]
AlphaFold Q64727
Predicted Effect probably damaging
Transcript: ENSMUST00000022369
AA Change: A965D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022369
Gene: ENSMUSG00000021823
AA Change: A965D

DomainStartEndE-ValueType
Pfam:Vinculin 3 485 9e-203 PFAM
Pfam:Vinculin 475 1066 1.7e-301 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154460
SMART Domains Protein: ENSMUSP00000117346
Gene: ENSMUSG00000021824

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 1 136 1.8e-8 PFAM
Pfam:Adap_comp_sub 165 418 1e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224380
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants die by embryonic day 10 with failed midline fusion of the rostral neural tube, bilobular cranial development and compromised cranial and spinal nerve development. Abnormal myocardial and endocardial structures are seen in the heart. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,220,589 (GRCm39) I174K probably damaging Het
Ano2 A T 6: 125,940,667 (GRCm39) I597F probably damaging Het
Ap1g1 T C 8: 110,586,796 (GRCm39) V813A probably damaging Het
Bpnt1 A T 1: 185,084,523 (GRCm39) I207F possibly damaging Het
Brinp3 T A 1: 146,777,139 (GRCm39) W529R probably damaging Het
C2cd2l C T 9: 44,226,681 (GRCm39) R355Q probably benign Het
Ccser1 T A 6: 62,356,915 (GRCm39) C784* probably null Het
Cdh20 A T 1: 110,065,889 (GRCm39) D721V probably damaging Het
Chd9 A G 8: 91,721,193 (GRCm39) I994V unknown Het
Cst13 T G 2: 148,665,127 (GRCm39) Y41D probably benign Het
Cyth2 C T 7: 45,457,448 (GRCm39) A342T probably benign Het
Dapk1 T C 13: 60,878,700 (GRCm39) L563P probably damaging Het
Dclk3 T G 9: 111,296,596 (GRCm39) S47A probably benign Het
Dync1h1 C A 12: 110,618,011 (GRCm39) N3183K probably benign Het
Enpp1 C T 10: 24,551,885 (GRCm39) V165M probably benign Het
Ephx3 T C 17: 32,407,763 (GRCm39) N173S possibly damaging Het
Erc1 T A 6: 119,756,592 (GRCm39) D388V probably benign Het
Esp34 T G 17: 38,870,511 (GRCm39) V135G possibly damaging Het
Gfy G A 7: 44,827,461 (GRCm39) P212S probably damaging Het
Gm5239 C T 18: 35,669,795 (GRCm39) R54C probably benign Het
Gtpbp3 T C 8: 71,942,107 (GRCm39) F113L probably benign Het
Hectd1 T A 12: 51,837,233 (GRCm39) D775V probably damaging Het
Ifrd2 T G 9: 107,469,721 (GRCm39) S431R probably damaging Het
Impg2 G A 16: 56,087,543 (GRCm39) A1121T probably damaging Het
Irx1 A G 13: 72,108,314 (GRCm39) F123L possibly damaging Het
Itgb6 C T 2: 60,499,557 (GRCm39) V79I probably benign Het
Kcnd3 G A 3: 105,575,526 (GRCm39) R550H probably damaging Het
Klhl9 A T 4: 88,639,090 (GRCm39) S384T possibly damaging Het
Kng2 T C 16: 22,845,794 (GRCm39) probably null Het
Lipo3 T C 19: 33,560,464 (GRCm39) N67S possibly damaging Het
Mgst1 T C 6: 138,130,504 (GRCm39) S78P probably benign Het
Ms4a14 A G 19: 11,281,323 (GRCm39) Y412H possibly damaging Het
Mucl2 A C 15: 103,926,318 (GRCm39) I124S unknown Het
Myh3 A G 11: 66,981,921 (GRCm39) M806V probably benign Het
Nelfcd T C 2: 174,268,189 (GRCm39) L501P probably damaging Het
Nlrp6 C A 7: 140,505,097 (GRCm39) P748Q probably benign Het
Or1j13 C T 2: 36,370,138 (GRCm39) M1I probably null Het
Or6n2 T C 1: 173,897,664 (GRCm39) S267P probably benign Het
Plxna2 G A 1: 194,327,127 (GRCm39) A354T probably benign Het
Prpf39 G T 12: 65,100,145 (GRCm39) V273L probably benign Het
Rad9a T C 19: 4,251,522 (GRCm39) probably benign Het
Rnf135 A G 11: 80,089,732 (GRCm39) D356G probably benign Het
Rragd G T 4: 33,004,166 (GRCm39) A153S possibly damaging Het
Selenot G T 3: 58,492,653 (GRCm39) V47L probably benign Het
Smc2 T C 4: 52,451,013 (GRCm39) L277P probably damaging Het
Sp7 A G 15: 102,267,584 (GRCm39) F92S possibly damaging Het
Spata1 A T 3: 146,173,946 (GRCm39) I380N possibly damaging Het
Spdye4b G T 5: 143,180,652 (GRCm39) R39S possibly damaging Het
Spmip9 T C 6: 70,890,621 (GRCm39) K57R probably benign Het
Stom C A 2: 35,211,589 (GRCm39) R144L possibly damaging Het
Tsc22d1 T C 14: 76,653,486 (GRCm39) probably benign Het
Unc13b A G 4: 43,249,565 (GRCm39) T998A probably benign Het
Vmn1r69 A T 7: 10,314,281 (GRCm39) V150D probably damaging Het
Vmn1r90 T G 7: 14,295,189 (GRCm39) N303T possibly damaging Het
Vmn2r69 A T 7: 85,059,622 (GRCm39) M429K probably benign Het
Vmn2r8 T A 5: 108,950,106 (GRCm39) Y247F probably benign Het
Washc5 A T 15: 59,239,260 (GRCm39) S168T possibly damaging Het
Other mutations in Vcl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Vcl APN 14 21,037,071 (GRCm39) missense probably benign 0.00
IGL01755:Vcl APN 14 21,046,038 (GRCm39) missense probably damaging 0.99
IGL01994:Vcl APN 14 21,053,311 (GRCm39) missense probably damaging 1.00
IGL02128:Vcl APN 14 21,070,645 (GRCm39) missense probably benign
IGL02168:Vcl APN 14 21,057,355 (GRCm39) missense probably benign 0.21
IGL02502:Vcl APN 14 21,069,453 (GRCm39) missense probably damaging 1.00
IGL02574:Vcl APN 14 20,979,643 (GRCm39) nonsense probably null
IGL03103:Vcl APN 14 21,074,348 (GRCm39) missense probably damaging 1.00
IGL03046:Vcl UTSW 14 21,072,085 (GRCm39) missense possibly damaging 0.52
R0137:Vcl UTSW 14 21,037,083 (GRCm39) nonsense probably null
R0320:Vcl UTSW 14 21,035,692 (GRCm39) splice site probably benign
R1442:Vcl UTSW 14 21,033,446 (GRCm39) missense probably damaging 1.00
R1546:Vcl UTSW 14 21,059,018 (GRCm39) missense probably damaging 1.00
R1692:Vcl UTSW 14 21,074,250 (GRCm39) missense probably damaging 0.99
R1709:Vcl UTSW 14 21,069,441 (GRCm39) missense probably benign 0.03
R1737:Vcl UTSW 14 21,070,604 (GRCm39) missense probably damaging 1.00
R1848:Vcl UTSW 14 21,059,063 (GRCm39) missense probably benign 0.03
R1902:Vcl UTSW 14 21,032,767 (GRCm39) missense probably damaging 1.00
R4623:Vcl UTSW 14 21,065,007 (GRCm39) missense probably benign 0.33
R4654:Vcl UTSW 14 21,035,820 (GRCm39) splice site probably null
R5084:Vcl UTSW 14 21,059,027 (GRCm39) missense possibly damaging 0.54
R5168:Vcl UTSW 14 21,060,170 (GRCm39) missense probably damaging 1.00
R5275:Vcl UTSW 14 21,060,146 (GRCm39) missense probably damaging 1.00
R6637:Vcl UTSW 14 21,053,200 (GRCm39) missense probably damaging 1.00
R6859:Vcl UTSW 14 21,037,143 (GRCm39) missense probably damaging 1.00
R7348:Vcl UTSW 14 21,059,020 (GRCm39) nonsense probably null
R7348:Vcl UTSW 14 21,053,218 (GRCm39) missense probably benign
R7630:Vcl UTSW 14 21,033,470 (GRCm39) nonsense probably null
R7650:Vcl UTSW 14 21,045,114 (GRCm39) missense probably damaging 1.00
R7812:Vcl UTSW 14 21,045,158 (GRCm39) missense probably benign 0.02
R8143:Vcl UTSW 14 21,037,112 (GRCm39) missense possibly damaging 0.91
R8543:Vcl UTSW 14 21,045,127 (GRCm39) missense probably benign 0.03
R8734:Vcl UTSW 14 21,060,236 (GRCm39) critical splice donor site probably null
R8856:Vcl UTSW 14 21,045,160 (GRCm39) missense probably benign 0.10
R9136:Vcl UTSW 14 21,057,344 (GRCm39) missense probably benign 0.11
R9216:Vcl UTSW 14 21,033,515 (GRCm39) missense probably damaging 1.00
R9239:Vcl UTSW 14 21,072,092 (GRCm39) missense probably damaging 0.99
R9481:Vcl UTSW 14 21,070,726 (GRCm39) missense probably benign 0.03
X0028:Vcl UTSW 14 21,035,730 (GRCm39) nonsense probably null
X0060:Vcl UTSW 14 21,070,844 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TTTCCTGTCCTTCCAGAGGG -3'
(R):5'- AGTCATCATCCGAGCTTCCC -3'

Sequencing Primer
(F):5'- GTGTAGGCAGAGCTCATGC -3'
(R):5'- ATCCGAGCTTCCCACGTAG -3'
Posted On 2019-10-17