Incidental Mutation 'IGL01934:Parva'
ID180562
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parva
Ensembl Gene ENSMUSG00000030770
Gene Nameparvin, alpha
Synonyms5430400F08Rik, actopaxin, 2010012A22Rik, CH-ILKBP
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01934
Quality Score
Status
Chromosome7
Chromosomal Location112427505-112591692 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 112588553 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 352 (C352*)
Ref Sequence ENSEMBL: ENSMUSP00000102254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033030] [ENSMUST00000106640] [ENSMUST00000106643]
Predicted Effect probably null
Transcript: ENSMUST00000033030
AA Change: C352*
SMART Domains Protein: ENSMUSP00000033030
Gene: ENSMUSG00000030770
AA Change: C352*

DomainStartEndE-ValueType
low complexity region 7 28 N/A INTRINSIC
CH 97 197 3.61e-1 SMART
CH 264 367 6.69e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106640
AA Change: C316*
SMART Domains Protein: ENSMUSP00000102251
Gene: ENSMUSG00000030770
AA Change: C316*

DomainStartEndE-ValueType
CH 61 161 3.61e-1 SMART
CH 228 331 6.69e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106643
AA Change: C352*
SMART Domains Protein: ENSMUSP00000102254
Gene: ENSMUSG00000030770
AA Change: C352*

DomainStartEndE-ValueType
low complexity region 7 28 N/A INTRINSIC
CH 97 197 3.61e-1 SMART
CH 264 367 6.69e-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. Parvins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. The encoded protein is part of the integrin-linked kinase signaling complex and plays a role in cell adhesion, motility and survival. [provided by RefSeq, Dec 2010]
PHENOTYPE: Embryos homozygous for a null allele are growth retarded and die prior to E14.5 exhibiting abnormal cardiac morphogenesis, severe vascular defects, edema, microaneurysms, hemorrhage, and severe kidney dysgenesis or agenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Aars T A 8: 111,048,018 I593N probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Capn15 T C 17: 25,963,024 T604A probably damaging Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fbxw2 T C 2: 34,822,606 S148G probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Galnt9 A T 5: 110,602,636 I340F possibly damaging Het
Gfap G A 11: 102,894,460 A230V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Klf10 C T 15: 38,297,284 V171M probably benign Het
Man1b1 T C 2: 25,345,511 S350P probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Mrpl58 C A 11: 115,410,729 probably benign Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Ptf1a T A 2: 19,446,620 C254S possibly damaging Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Rnf44 A G 13: 54,681,950 V407A probably damaging Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfrsf21 A T 17: 43,065,187 N488I probably benign Het
Tnfsf8 A G 4: 63,834,510 probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging Het
Other mutations in Parva
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Parva APN 7 112577010 splice site probably benign
IGL02280:Parva APN 7 112560019 missense probably benign 0.01
IGL02623:Parva APN 7 112576439 missense probably damaging 1.00
IGL03177:Parva APN 7 112572933 splice site probably benign
R0331:Parva UTSW 7 112544798 missense probably benign
R0620:Parva UTSW 7 112576411 missense probably damaging 0.99
R0815:Parva UTSW 7 112567864 missense probably damaging 0.99
R2143:Parva UTSW 7 112560067 missense possibly damaging 0.83
R5355:Parva UTSW 7 112544268 critical splice donor site probably null
R5379:Parva UTSW 7 112579720 missense probably benign 0.44
R5588:Parva UTSW 7 112560062 missense possibly damaging 0.72
R5602:Parva UTSW 7 112567765 missense probably benign 0.00
R5896:Parva UTSW 7 112544753 missense probably benign 0.03
R6878:Parva UTSW 7 112576449 missense possibly damaging 0.63
Posted On2014-05-07