Incidental Mutation 'IGL02937:Parvb'
ID364351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parvb
Ensembl Gene ENSMUSG00000022438
Gene Nameparvin, beta
Synonymsaffixin, D15Gsk1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02937
Quality Score
Status
Chromosome15
Chromosomal Location84232043-84315688 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 84308953 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Methionine at position 316 (K316M)
Ref Sequence ENSEMBL: ENSMUSP00000023072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023072]
Predicted Effect probably damaging
Transcript: ENSMUST00000023072
AA Change: K316M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023072
Gene: ENSMUSG00000022438
AA Change: K316M

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
CH 90 190 3.46e-1 SMART
low complexity region 204 211 N/A INTRINSIC
CH 257 360 9.18e-2 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the parvin family of actin-binding proteins, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Disruption of this marker has no apparent adverse consequences. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik C T 9: 15,294,753 C21Y probably damaging Het
4933427D06Rik T C 6: 89,108,145 noncoding transcript Het
5730480H06Rik A G 5: 48,379,441 I160V probably benign Het
Arhgap29 G A 3: 121,974,049 E47K probably damaging Het
Arhgef12 T A 9: 43,015,920 S303C probably damaging Het
Bap1 A G 14: 31,258,327 N644S probably benign Het
Cc2d1b A G 4: 108,631,894 E796G probably damaging Het
Cfh C A 1: 140,105,442 R788L probably benign Het
Cldn1 A G 16: 26,360,873 F148S probably damaging Het
Cryzl1 A G 16: 91,690,731 M292T possibly damaging Het
Cyp11b1 T C 15: 74,836,559 R385G possibly damaging Het
Cyp4f37 T C 17: 32,625,189 L89P probably benign Het
Dach1 A G 14: 97,915,795 probably null Het
Ddx58 C T 4: 40,229,661 C86Y probably benign Het
Dhtkd1 A G 2: 5,917,905 I481T possibly damaging Het
Dlx5 A T 6: 6,881,755 D44E probably damaging Het
Dsg1a T A 18: 20,331,534 I362N possibly damaging Het
Ecm2 T A 13: 49,518,476 I151N probably damaging Het
Far1 T A 7: 113,540,648 I101N probably damaging Het
Gm21985 T C 2: 112,341,862 S384P probably benign Het
Gnb5 T C 9: 75,340,189 Y247H probably damaging Het
Golgb1 A G 16: 36,916,210 K1940E probably damaging Het
Gprc5b A G 7: 118,983,794 V284A probably benign Het
Idh2 T C 7: 80,098,913 Y179C probably damaging Het
Kalrn G A 16: 34,220,130 Q737* probably null Het
Kcnj13 T C 1: 87,386,453 D349G probably damaging Het
Lgsn A T 1: 31,204,237 T467S possibly damaging Het
Map9 T A 3: 82,363,512 S128T possibly damaging Het
Mroh5 A G 15: 73,789,978 C455R probably damaging Het
Nes A G 3: 87,979,879 H1771R probably benign Het
Nkain2 T C 10: 32,329,844 Y65C probably damaging Het
Olfr303 T C 7: 86,394,590 K303E possibly damaging Het
Olfr623 A T 7: 103,660,905 V115D probably damaging Het
Olfr644 T A 7: 104,068,849 M61L probably damaging Het
Pabpc4l A C 3: 46,446,290 D306E probably benign Het
Parp12 A T 6: 39,102,581 Y332N probably damaging Het
Pde8a T A 7: 81,295,771 probably benign Het
Polq A G 16: 37,013,109 T55A probably benign Het
Ppp2r5b T A 19: 6,230,986 K271M probably damaging Het
Ralgapb A G 2: 158,493,016 probably null Het
Skap2 T C 6: 51,909,371 N175D probably benign Het
Slc44a3 A G 3: 121,510,321 probably benign Het
Smurf2 G A 11: 106,846,047 H318Y probably damaging Het
Tbc1d23 T C 16: 57,184,415 T460A possibly damaging Het
Tcerg1 T C 18: 42,524,349 S299P unknown Het
Tll1 A C 8: 64,205,285 Y33* probably null Het
Tmem59 A T 4: 107,197,585 T196S probably damaging Het
Ttll4 C A 1: 74,679,503 A171D possibly damaging Het
Ttn T C 2: 76,811,169 T13528A possibly damaging Het
Ttn A G 2: 76,887,277 probably benign Het
Xpc C A 6: 91,500,137 G327W probably damaging Het
Zbtb7a A G 10: 81,144,298 S109G probably benign Het
Zfyve26 T C 12: 79,239,020 M2328V probably benign Het
Other mutations in Parvb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Parvb APN 15 84303465 missense probably damaging 1.00
IGL02415:Parvb APN 15 84292815 missense probably damaging 1.00
IGL02458:Parvb APN 15 84303434 missense probably damaging 1.00
IGL03088:Parvb APN 15 84308843 splice site probably benign
R0422:Parvb UTSW 15 84295611 missense probably benign 0.28
R1470:Parvb UTSW 15 84271308 missense probably benign 0.00
R1470:Parvb UTSW 15 84271252 missense probably damaging 1.00
R1470:Parvb UTSW 15 84271308 missense probably benign 0.00
R1470:Parvb UTSW 15 84271252 missense probably damaging 1.00
R1713:Parvb UTSW 15 84297991 splice site probably benign
R2031:Parvb UTSW 15 84282835 missense probably benign 0.09
R2146:Parvb UTSW 15 84232168 missense possibly damaging 0.63
R2148:Parvb UTSW 15 84232168 missense possibly damaging 0.63
R2149:Parvb UTSW 15 84232168 missense possibly damaging 0.63
R2150:Parvb UTSW 15 84232168 missense possibly damaging 0.63
R2508:Parvb UTSW 15 84297970 missense probably benign
R4770:Parvb UTSW 15 84303905 critical splice donor site probably null
R5948:Parvb UTSW 15 84303461 missense probably damaging 1.00
R6492:Parvb UTSW 15 84303872 missense probably damaging 1.00
R6718:Parvb UTSW 15 84297979 missense probably damaging 0.96
R6719:Parvb UTSW 15 84297979 missense probably damaging 0.96
R6720:Parvb UTSW 15 84297979 missense probably damaging 0.96
R6722:Parvb UTSW 15 84297979 missense probably damaging 0.96
R7189:Parvb UTSW 15 84303471 critical splice donor site probably null
R7285:Parvb UTSW 15 84282784 missense possibly damaging 0.94
R7492:Parvb UTSW 15 84290450 missense probably damaging 0.98
Posted On2015-12-18