Incidental Mutation 'R6453:Parvg'
ID 520129
Institutional Source Beutler Lab
Gene Symbol Parvg
Ensembl Gene ENSMUSG00000022439
Gene Name parvin, gamma
Synonyms
MMRRC Submission 044589-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6453 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 84208388-84227179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84213126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 122 (E122V)
Ref Sequence ENSEMBL: ENSMUSP00000115109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023074] [ENSMUST00000125928] [ENSMUST00000139235] [ENSMUST00000145809] [ENSMUST00000151072] [ENSMUST00000163667]
AlphaFold Q9ERD8
Predicted Effect probably damaging
Transcript: ENSMUST00000023074
AA Change: E69V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023074
Gene: ENSMUSG00000022439
AA Change: E69V

DomainStartEndE-ValueType
Pfam:CH 47 151 5.5e-12 PFAM
CH 212 315 2.14e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000125928
AA Change: E122V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115109
Gene: ENSMUSG00000022439
AA Change: E122V

DomainStartEndE-ValueType
Blast:CH 99 122 4e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139235
Predicted Effect probably damaging
Transcript: ENSMUST00000145809
AA Change: E19V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151072
Predicted Effect probably damaging
Transcript: ENSMUST00000163667
AA Change: E122V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131443
Gene: ENSMUSG00000022439
AA Change: E122V

DomainStartEndE-ValueType
Pfam:CH 97 201 7.7e-11 PFAM
CH 265 368 2.14e-2 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.6%
  • 20x: 92.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the parvin family, including PARVG, are actin-binding proteins associated with focal contacts.[supplied by OMIM, Aug 2004]
PHENOTYPE: Homozygous null mice are viable and fertile with a normal life span and normal immune cell development and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik C T 17: 35,879,109 (GRCm39) S149L possibly damaging Het
A830018L16Rik A T 1: 11,868,782 (GRCm39) D354V possibly damaging Het
Acta2 G A 19: 34,224,057 (GRCm39) T150I probably damaging Het
Adgra1 T A 7: 139,455,343 (GRCm39) S324T probably benign Het
Ankrd44 A T 1: 54,696,863 (GRCm39) probably null Het
B430306N03Rik T A 17: 48,623,764 (GRCm39) W22R probably damaging Het
Ccdc162 A T 10: 41,426,821 (GRCm39) V2024E probably damaging Het
Cers6 C T 2: 68,877,513 (GRCm39) H164Y probably benign Het
Chd3 T A 11: 69,240,938 (GRCm39) K1458* probably null Het
Cimip1 A G 2: 173,370,052 (GRCm39) Y109C probably benign Het
Col3a1 G A 1: 45,378,538 (GRCm39) probably benign Het
Cyb5d2 T G 11: 72,673,586 (GRCm39) T3P probably benign Het
Dennd1b A G 1: 139,071,686 (GRCm39) Y468C probably benign Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Exoc7 T C 11: 116,184,795 (GRCm39) probably null Het
Fat2 A G 11: 55,173,042 (GRCm39) I2557T probably benign Het
Flt1 T C 5: 147,620,751 (GRCm39) D131G possibly damaging Het
Frem1 G T 4: 82,833,062 (GRCm39) S1858* probably null Het
Garem1 T A 18: 21,281,796 (GRCm39) I187F probably damaging Het
Gldc A T 19: 30,093,917 (GRCm39) I700N probably damaging Het
Gpatch4 A G 3: 87,962,312 (GRCm39) E175G probably damaging Het
Gria2 A G 3: 80,648,281 (GRCm39) Y152H possibly damaging Het
H2-Q2 C T 17: 35,563,871 (GRCm39) L251F probably benign Het
Hectd4 G A 5: 121,488,655 (GRCm39) G3649R probably damaging Het
Hormad1 A G 3: 95,485,568 (GRCm39) E252G probably benign Het
Kif14 A G 1: 136,410,042 (GRCm39) probably null Het
Lmcd1 A G 6: 112,292,789 (GRCm39) T214A probably benign Het
Macrod2 A G 2: 142,018,545 (GRCm39) E226G probably damaging Het
Mcm4 A T 16: 15,448,273 (GRCm39) L428Q probably damaging Het
Msh6 T A 17: 88,293,167 (GRCm39) Y641N probably damaging Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nipa2 A T 7: 55,585,569 (GRCm39) M142K probably damaging Het
Or8b1c T C 9: 38,384,871 (GRCm39) I276T probably benign Het
Pclo T A 5: 14,726,803 (GRCm39) probably benign Het
Pik3cd A G 4: 149,736,759 (GRCm39) V933A probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Qpctl C T 7: 18,875,222 (GRCm39) V337I probably damaging Het
Qrfprl G A 6: 65,430,014 (GRCm39) G237S possibly damaging Het
Ralgapa1 A G 12: 55,785,104 (GRCm39) W719R probably damaging Het
Rangrf A G 11: 68,864,378 (GRCm39) L28P probably damaging Het
Rbbp9 G T 2: 144,391,054 (GRCm39) Q38K probably benign Het
Rnf169 C T 7: 99,584,434 (GRCm39) M246I probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Sdk1 A G 5: 142,082,676 (GRCm39) D1098G probably damaging Het
Sgsm3 T A 15: 80,895,515 (GRCm39) S689T probably damaging Het
Slc13a3 C T 2: 165,253,867 (GRCm39) V429M possibly damaging Het
Slc30a5 A T 13: 100,951,197 (GRCm39) D228E probably benign Het
Slc46a3 A G 5: 147,823,200 (GRCm39) I214T possibly damaging Het
Slc7a15 T C 12: 8,584,490 (GRCm39) M347V possibly damaging Het
Slc9a2 A T 1: 40,781,781 (GRCm39) I337F possibly damaging Het
Sostdc1 C A 12: 36,364,407 (GRCm39) P39T probably benign Het
Speg A G 1: 75,394,616 (GRCm39) N1775S probably benign Het
Spg7 A G 8: 123,806,162 (GRCm39) K291E possibly damaging Het
Sptbn2 A T 19: 4,794,208 (GRCm39) R1471W possibly damaging Het
Thada T C 17: 84,723,751 (GRCm39) E1101G probably damaging Het
Trpm6 G A 19: 18,807,354 (GRCm39) A1033T probably damaging Het
Ttll6 G A 11: 96,049,553 (GRCm39) R757H probably benign Het
Other mutations in Parvg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02455:Parvg APN 15 84,214,283 (GRCm39) missense possibly damaging 0.89
I2288:Parvg UTSW 15 84,212,981 (GRCm39) intron probably benign
R0044:Parvg UTSW 15 84,222,083 (GRCm39) missense probably benign 0.40
R0044:Parvg UTSW 15 84,222,083 (GRCm39) missense probably benign 0.40
R0739:Parvg UTSW 15 84,215,222 (GRCm39) missense probably damaging 0.99
R1498:Parvg UTSW 15 84,218,832 (GRCm39) missense possibly damaging 0.65
R1507:Parvg UTSW 15 84,214,359 (GRCm39) missense probably damaging 0.99
R5755:Parvg UTSW 15 84,215,297 (GRCm39) critical splice donor site probably null
R6465:Parvg UTSW 15 84,213,141 (GRCm39) missense probably damaging 1.00
R6539:Parvg UTSW 15 84,225,541 (GRCm39) missense probably damaging 1.00
R6788:Parvg UTSW 15 84,210,464 (GRCm39) missense possibly damaging 0.95
R7237:Parvg UTSW 15 84,225,557 (GRCm39) missense probably benign 0.00
R7261:Parvg UTSW 15 84,215,297 (GRCm39) critical splice donor site probably null
R7665:Parvg UTSW 15 84,222,002 (GRCm39) missense probably damaging 0.99
R8792:Parvg UTSW 15 84,213,160 (GRCm39) missense probably damaging 0.99
R8859:Parvg UTSW 15 84,222,001 (GRCm39) missense probably benign 0.19
R9562:Parvg UTSW 15 84,213,065 (GRCm39) missense probably benign 0.03
R9746:Parvg UTSW 15 84,210,424 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CATACCAGGATGATAGCTCCTG -3'
(R):5'- ACAATCTTTGAAAGCCATAAGGGG -3'

Sequencing Primer
(F):5'- AGATCTTTGCGAGCTCAGAGC -3'
(R):5'- GGTTCCCCCACACACAC -3'
Posted On 2018-06-06