Incidental Mutation 'R6453:Parvg'
ID 520129
Institutional Source Beutler Lab
Gene Symbol Parvg
Ensembl Gene ENSMUSG00000022439
Gene Name parvin, gamma
Synonyms
MMRRC Submission
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 84324026-84342978 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84328925 bp (GRCm38)
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
1700021F07Rik A G 2: 173,528,259 Y109C probably benign Het
2300002M23Rik C T 17: 35,568,212 S149L possibly damaging Het
A830018L16Rik A T 1: 11,798,558 D354V possibly damaging Het
Acta2 G A 19: 34,246,657 T150I probably damaging Het
Adgra1 T A 7: 139,875,427 S324T probably benign Het
Ankrd44 A T 1: 54,657,704 probably null Het
B430306N03Rik T A 17: 48,316,736 W22R probably damaging Het
C130060K24Rik G A 6: 65,453,030 G237S possibly damaging Het
Ccdc162 A T 10: 41,550,825 V2024E probably damaging Het
Cers6 C T 2: 69,047,169 H164Y probably benign Het
Chd3 T A 11: 69,350,112 K1458* probably null Het
Col3a1 G A 1: 45,339,378 probably benign Het
Cyb5d2 T G 11: 72,782,760 T3P probably benign Het
Dennd1b A G 1: 139,143,948 Y468C probably benign Het
Dnajc14 A G 10: 128,807,490 E427G probably damaging Het
Exoc7 T C 11: 116,293,969 probably null Het
Fat2 A G 11: 55,282,216 I2557T probably benign Het
Flt1 T C 5: 147,683,941 D131G possibly damaging Het
Frem1 G T 4: 82,914,825 S1858* probably null Het
Garem1 T A 18: 21,148,739 I187F probably damaging Het
Gldc A T 19: 30,116,517 I700N probably damaging Het
Gm15922 C G 7: 3,737,320 A301P probably damaging Het
Gpatch4 A G 3: 88,055,005 E175G probably damaging Het
Gria2 A G 3: 80,740,974 Y152H possibly damaging Het
H2-Q2 C T 17: 35,344,895 L251F probably benign Het
Hectd4 G A 5: 121,350,592 G3649R probably damaging Het
Hormad1 A G 3: 95,578,257 E252G probably benign Het
Kif14 A G 1: 136,482,304 probably null Het
Lmcd1 A G 6: 112,315,828 T214A probably benign Het
Macrod2 A G 2: 142,176,625 E226G probably damaging Het
Mcm4 A T 16: 15,630,409 L428Q probably damaging Het
Msh6 T A 17: 87,985,739 Y641N probably damaging Het
Myo7a C T 7: 98,073,167 V1184M probably benign Het
Nipa2 A T 7: 55,935,821 M142K probably damaging Het
Olfr905 T C 9: 38,473,575 I276T probably benign Het
Pclo T A 5: 14,676,789 probably benign Het
Pik3cd A G 4: 149,652,302 V933A probably damaging Het
Qpctl C T 7: 19,141,297 V337I probably damaging Het
Ralgapa1 A G 12: 55,738,319 W719R probably damaging Het
Rangrf A G 11: 68,973,552 L28P probably damaging Het
Rbbp9 G T 2: 144,549,134 Q38K probably benign Het
Rnf169 C T 7: 99,935,227 M246I probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,579,917 probably benign Het
Sdk1 A G 5: 142,096,921 D1098G probably damaging Het
Sgsm3 T A 15: 81,011,314 S689T probably damaging Het
Slc13a3 C T 2: 165,411,947 V429M possibly damaging Het
Slc30a5 A T 13: 100,814,689 D228E probably benign Het
Slc46a3 A G 5: 147,886,390 I214T possibly damaging Het
Slc7a15 T C 12: 8,534,490 M347V possibly damaging Het
Slc9a2 A T 1: 40,742,621 I337F possibly damaging Het
Sostdc1 C A 12: 36,314,408 P39T probably benign Het
Speg A G 1: 75,417,972 N1775S probably benign Het
Spg7 A G 8: 123,079,423 K291E possibly damaging Het
Sptbn2 A T 19: 4,744,180 R1471W possibly damaging Het
Thada T C 17: 84,416,323 E1101G probably damaging Het
Trpm6 G A 19: 18,829,990 A1033T probably damaging Het
Ttll6 G A 11: 96,158,727 R757H probably benign Het
Other mutations in Parvg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02455:Parvg APN 15 84330082 missense possibly damaging 0.89
I2288:Parvg UTSW 15 84328780 intron probably benign
R0044:Parvg UTSW 15 84337882 missense probably benign 0.40
R0044:Parvg UTSW 15 84337882 missense probably benign 0.40
R0739:Parvg UTSW 15 84331021 missense probably damaging 0.99
R1498:Parvg UTSW 15 84334631 missense possibly damaging 0.65
R1507:Parvg UTSW 15 84330158 missense probably damaging 0.99
R5755:Parvg UTSW 15 84331096 critical splice donor site probably null
R6465:Parvg UTSW 15 84328940 missense probably damaging 1.00
R6539:Parvg UTSW 15 84341340 missense probably damaging 1.00
R6788:Parvg UTSW 15 84326263 missense possibly damaging 0.95
R7237:Parvg UTSW 15 84341356 missense probably benign 0.00
R7261:Parvg UTSW 15 84331096 critical splice donor site probably null
R7665:Parvg UTSW 15 84337801 missense probably damaging 0.99
R8792:Parvg UTSW 15 84328959 missense probably damaging 0.99
R8859:Parvg UTSW 15 84337800 missense probably benign 0.19
R9562:Parvg UTSW 15 84328864 missense probably benign 0.03
R9746:Parvg UTSW 15 84326223 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