Incidental Mutation 'R6539:Parvg'
ID520636
Institutional Source Beutler Lab
Gene Symbol Parvg
Ensembl Gene ENSMUSG00000022439
Gene Nameparvin, gamma
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6539 (G1)
Quality Score225.009
Status Validated
Chromosome15
Chromosomal Location84324026-84342978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 84341340 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 349 (D349E)
Ref Sequence ENSEMBL: ENSMUSP00000131443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023074] [ENSMUST00000163667]
Predicted Effect probably damaging
Transcript: ENSMUST00000023074
AA Change: D296E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023074
Gene: ENSMUSG00000022439
AA Change: D296E

DomainStartEndE-ValueType
Pfam:CH 47 151 5.5e-12 PFAM
CH 212 315 2.14e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163667
AA Change: D349E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131443
Gene: ENSMUSG00000022439
AA Change: D349E

DomainStartEndE-ValueType
Pfam:CH 97 201 7.7e-11 PFAM
CH 265 368 2.14e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230576
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A G 10: 77,984,488 T231A probably benign Het
Adam5 G A 8: 24,782,600 A513V possibly damaging Het
Ano8 T C 8: 71,484,483 D147G probably damaging Het
Apba1 A G 19: 23,936,560 D649G probably damaging Het
Atp6v0d1 T C 8: 105,524,974 I329V probably benign Het
Card6 T A 15: 5,105,391 N110I probably damaging Het
Chn2 T A 6: 54,173,461 probably null Het
Cyp46a1 G A 12: 108,353,157 probably null Het
Daam2 T A 17: 49,469,711 H782L probably damaging Het
Defa26 A G 8: 21,618,246 I22V possibly damaging Het
Dlk1 A G 12: 109,460,319 M278V probably benign Het
Dync2h1 T C 9: 7,159,478 probably null Het
Ehmt1 T A 2: 24,804,767 H1056L probably damaging Het
Ephb3 G A 16: 21,221,468 D527N probably benign Het
Fam46a T C 9: 85,326,561 I70V possibly damaging Het
Flt1 T C 5: 147,578,376 K1079E probably benign Het
Fndc3b C T 3: 27,538,057 G231R probably benign Het
Gm4924 T A 10: 82,378,524 probably benign Het
Ifrd1 G A 12: 40,203,435 A426V probably damaging Het
Ift140 T C 17: 25,094,669 L1358P possibly damaging Het
Igkv5-37 A T 6: 69,963,816 S16T probably benign Het
Map3k9 A G 12: 81,732,192 L449P probably damaging Het
Mdm1 T C 10: 118,150,958 probably null Het
Mmrn1 A T 6: 60,987,184 T1056S probably benign Het
Mroh2b C T 15: 4,905,574 H164Y probably damaging Het
Muc16 T C 9: 18,637,325 T5891A probably benign Het
Nagpa T C 16: 5,203,701 E62G possibly damaging Het
Nek10 T A 14: 14,860,789 V475D possibly damaging Het
Olfr1188 T C 2: 88,559,520 F6S probably damaging Het
Olfr194 A C 16: 59,119,751 S106R probably damaging Het
Pan3 T C 5: 147,450,653 I144T possibly damaging Het
Pitpna A G 11: 75,598,301 Y58C probably damaging Het
Ppp4r3b T A 11: 29,218,503 D73E probably benign Het
Preb A G 5: 30,956,076 V338A probably benign Het
Sec23a T C 12: 58,985,212 T411A probably benign Het
Smc6 A G 12: 11,297,010 probably null Het
Stxbp5l A G 16: 37,129,815 M1056T probably damaging Het
Tbcd T A 11: 121,556,987 probably null Het
Tpx2 G T 2: 152,876,598 E174* probably null Het
Trpc4ap G T 2: 155,636,258 P663T probably benign Het
Unc5cl G A 17: 48,465,017 G441D probably damaging Het
Xrcc2 G T 5: 25,692,532 R140S probably benign Het
Zfc3h1 G A 10: 115,412,002 E1037K probably benign Het
Zfhx4 A T 3: 5,244,108 Q798L probably damaging Het
Zfp94 G A 7: 24,303,291 T236M probably damaging 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
R6453:Parvg UTSW 15 84328925 missense probably null 1.00
R6465:Parvg UTSW 15 84328940 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
Predicted Primers PCR Primer
(F):5'- TGTTCAGAGCACCCAGTCAC -3'
(R):5'- ATGGGAAGAGCTCTGACTGC -3'

Sequencing Primer
(F):5'- TCAGAGCACCCAGTCACTGTTG -3'
(R):5'- AAGAGCTCTGACTGCTGGGTC -3'
Posted On2018-06-06