Incidental Mutation 'R6465:Parvg'
ID517795
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 #R6465 (G1)
Quality Score225.009
Status Validated
Chromosome15
Chromosomal Location84324026-84342978 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84328940 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 127 (D127G)
Ref Sequence ENSEMBL: ENSMUSP00000131443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023074] [ENSMUST00000125928] [ENSMUST00000139235] [ENSMUST00000145809] [ENSMUST00000151072] [ENSMUST00000163667]
Predicted Effect probably damaging
Transcript: ENSMUST00000023074
AA Change: D74G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023074
Gene: ENSMUSG00000022439
AA Change: D74G

DomainStartEndE-ValueType
Pfam:CH 47 151 5.5e-12 PFAM
CH 212 315 2.14e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125928
SMART Domains Protein: ENSMUSP00000115109
Gene: ENSMUSG00000022439

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: D24G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151072
Predicted Effect probably damaging
Transcript: ENSMUST00000163667
AA Change: D127G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131443
Gene: ENSMUSG00000022439
AA Change: D127G

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: 97.8%
  • 20x: 93.1%
Validation Efficiency 95% (40/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230113P08Rik A T 9: 35,908,625 N25Y possibly damaging Het
A2ml1 G A 6: 128,541,078 T1415I probably damaging Het
Acvr2b T A 9: 119,433,303 W461R probably damaging Het
Adam23 G T 1: 63,566,668 C637F probably damaging Het
Apol8 T G 15: 77,749,948 T143P probably benign Het
Asna1 A T 8: 85,018,565 M291K probably benign Het
Bfsp1 A C 2: 143,858,055 probably null Het
Cytl1 T C 5: 37,737,670 V99A probably benign Het
Dock2 A T 11: 34,503,413 V793E probably damaging Het
Fxyd5 G T 7: 31,037,880 T81K probably damaging Het
Gcm1 A G 9: 78,064,869 Y364C probably damaging Het
Gm37596 A G 3: 93,692,996 I22T probably damaging Het
Gm9992 G T 17: 7,374,443 T202K probably damaging Het
Haghl T C 17: 25,783,819 N190S possibly damaging Het
Inpp5j C A 11: 3,502,293 R319L possibly damaging Het
Ints10 A G 8: 68,807,536 N304S probably benign Het
Isoc1 T A 18: 58,671,256 C119S probably damaging Het
Klhl18 A G 9: 110,428,920 M414T probably benign Het
Krtap2-4 A G 11: 99,614,759 probably benign Het
Krtap3-1 G A 11: 99,566,451 P45S possibly damaging Het
Mroh2a GCCC GC 1: 88,232,257 probably null Het
Myo7a A G 7: 98,062,680 V1754A possibly damaging Het
Nedd4l T A 18: 65,155,264 D119E probably benign Het
Nsun7 T C 5: 66,295,586 V548A probably benign Het
Olfr1024 A T 2: 85,904,539 S172T probably benign Het
Olfr711 A T 7: 106,972,212 V44E possibly damaging Het
Piezo2 T A 18: 63,041,663 M2007L possibly damaging Het
Pou2f3 A C 9: 43,139,867 F175V probably damaging Het
Ptprn2 T C 12: 117,269,589 I958T probably damaging Het
Pwwp2b T C 7: 139,256,035 V464A probably benign Het
Pzp A G 6: 128,491,619 Y982H probably damaging Het
Rad17 T A 13: 100,637,080 N202I probably benign Het
Rtel1 T A 2: 181,335,940 D271E possibly damaging Het
Sos2 T C 12: 69,596,775 S943G probably benign Het
Tm9sf2 A G 14: 122,141,207 H241R probably benign Het
Ttc8 A G 12: 98,964,570 E291G probably damaging Het
Wfikkn1 A G 17: 25,878,718 C211R probably damaging Het
Ylpm1 T A 12: 85,049,802 D1219E probably damaging Het
Zc3hav1 T C 6: 38,331,849 Y586C possibly damaging Het
Zcchc4 T A 5: 52,819,276 F471I probably benign Het
Zfp719 C A 7: 43,590,684 Y565* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TCACATACCAGGATGATAGCTCC -3'
(R):5'- CAATCTTTGAAAGCCATAAGGGG -3'

Sequencing Primer
(F):5'- CTAGGGAGAACTTTCTGGAACTC -3'
(R):5'- GGTTCCCCCACACACAC -3'
Posted On2018-05-21