Incidental Mutation 'IGL03177:Parva'
ID412064
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 #IGL03177
Quality Score
Status
Chromosome7
Chromosomal Location112427505-112591692 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 112572933 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033030] [ENSMUST00000106640] [ENSMUST00000106643]
Predicted Effect probably benign
Transcript: ENSMUST00000033030
SMART Domains Protein: ENSMUSP00000033030
Gene: ENSMUSG00000030770

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 benign
Transcript: ENSMUST00000106640
SMART Domains Protein: ENSMUSP00000102251
Gene: ENSMUSG00000030770

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

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 noncoding transcript
Transcript: ENSMUST00000126047
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg2 T C X: 160,438,263 I23T possibly damaging Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Anxa7 T C 14: 20,456,586 I451V probably benign Het
Capn10 T C 1: 92,934,982 F37L probably benign Het
Cyp4f13 A G 17: 32,946,914 I30T possibly damaging Het
Ddx27 A G 2: 167,027,920 N392D possibly damaging Het
Dhx30 T C 9: 110,088,010 H479R possibly damaging Het
Dnah5 A G 15: 28,295,399 Y1426C probably damaging Het
Dnajc2 A G 5: 21,775,081 probably benign Het
Fbxw8 C A 5: 118,128,980 probably benign Het
Grik5 G A 7: 25,015,454 T705I probably damaging Het
H2-M3 G T 17: 37,270,316 V19F possibly damaging Het
Hapln2 C A 3: 88,022,771 C266F probably damaging Het
Hist1h2ab T A 13: 23,751,526 probably benign Het
Hspbp1 A T 7: 4,664,701 probably null Het
Jak3 T A 8: 71,682,370 V549D probably damaging Het
Mark1 A G 1: 184,944,907 S49P probably damaging Het
Mdfic T C 6: 15,770,451 V152A probably damaging Het
Mgat4a C A 1: 37,444,887 V501L probably damaging Het
Mlxip C A 5: 123,445,981 P536T possibly damaging Het
Mrpl2 A T 17: 46,649,037 T213S probably damaging Het
Nos1ap C A 1: 170,390,730 probably null Het
Olfr1247 C T 2: 89,609,482 V207I probably benign Het
Olfr786 T C 10: 129,436,815 M1T probably null Het
Olfr914 T A 9: 38,606,571 Y35* probably null Het
P2rx2 T C 5: 110,341,613 I251V probably damaging Het
Phf10 G A 17: 14,946,231 T459I probably damaging Het
Prg4 T A 1: 150,455,603 probably benign Het
Pum3 A T 19: 27,390,212 I639N probably benign Het
Rlf T A 4: 121,148,079 K1235* probably null Het
Ryr3 T A 2: 113,028,671 I46F probably benign Het
Sall3 A G 18: 80,972,968 S582P probably benign Het
Scn3b A C 9: 40,270,042 Y17S probably benign Het
Senp8 A G 9: 59,737,328 C169R probably damaging Het
Sgsm1 C T 5: 113,250,993 A1025T probably damaging Het
Six1 T C 12: 73,043,740 E217G possibly damaging Het
Slc38a8 T C 8: 119,485,512 D364G probably damaging Het
Stk10 A T 11: 32,614,592 E801V probably damaging Het
Ston2 A T 12: 91,647,657 I659N probably damaging Het
Stxbp4 T C 11: 90,571,753 Q331R probably benign Het
Synpo2 A T 3: 123,121,215 V54E probably damaging Het
Tax1bp1 A G 6: 52,736,947 D237G possibly damaging Het
Tmigd1 T C 11: 76,906,948 Y39H probably benign Het
Vmn1r15 A G 6: 57,258,473 T109A probably benign Het
Vmn1r209 T C 13: 22,805,854 Y222C possibly damaging Het
Zfp809 A G 9: 22,235,051 D12G probably damaging Het
Other mutations in Parva
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Parva APN 7 112577010 splice site probably benign
IGL01934:Parva APN 7 112588553 nonsense probably null
IGL02280:Parva APN 7 112560019 missense probably benign 0.01
IGL02623:Parva APN 7 112576439 missense probably damaging 1.00
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 On2016-08-02