Incidental Mutation 'IGL03177:Parva'
ID 412064
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parva
Ensembl Gene ENSMUSG00000030770
Gene Name parvin, alpha
Synonyms 2010012A22Rik, actopaxin, CH-ILKBP, 5430400F08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03177
Quality Score
Status
Chromosome 7
Chromosomal Location 112027102-112190899 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 112172140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033030] [ENSMUST00000106640] [ENSMUST00000106643]
AlphaFold Q9EPC1
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: 159,221,259 (GRCm39) I23T possibly damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Anxa7 T C 14: 20,506,654 (GRCm39) I451V probably benign Het
Capn10 T C 1: 92,862,704 (GRCm39) F37L probably benign Het
Cyp4f13 A G 17: 33,165,888 (GRCm39) I30T possibly damaging Het
Ddx27 A G 2: 166,869,840 (GRCm39) N392D possibly damaging Het
Dhx30 T C 9: 109,917,078 (GRCm39) H479R possibly damaging Het
Dnah5 A G 15: 28,295,545 (GRCm39) Y1426C probably damaging Het
Dnajc2 A G 5: 21,980,079 (GRCm39) probably benign Het
Fbxw8 C A 5: 118,267,045 (GRCm39) probably benign Het
Grik5 G A 7: 24,714,879 (GRCm39) T705I probably damaging Het
H2ac4 T A 13: 23,935,509 (GRCm39) probably benign Het
H2-M3 G T 17: 37,581,207 (GRCm39) V19F possibly damaging Het
Hapln2 C A 3: 87,930,078 (GRCm39) C266F probably damaging Het
Hspbp1 A T 7: 4,667,700 (GRCm39) probably null Het
Jak3 T A 8: 72,135,014 (GRCm39) V549D probably damaging Het
Mark1 A G 1: 184,677,104 (GRCm39) S49P probably damaging Het
Mdfic T C 6: 15,770,450 (GRCm39) V152A probably damaging Het
Mgat4a C A 1: 37,483,968 (GRCm39) V501L probably damaging Het
Mlxip C A 5: 123,584,044 (GRCm39) P536T possibly damaging Het
Mrpl2 A T 17: 46,959,963 (GRCm39) T213S probably damaging Het
Nos1ap C A 1: 170,218,299 (GRCm39) probably null Het
Or4a74 C T 2: 89,439,826 (GRCm39) V207I probably benign Het
Or6c1b T C 10: 129,272,684 (GRCm39) M1T probably null Het
Or8b50 T A 9: 38,517,867 (GRCm39) Y35* probably null Het
P2rx2 T C 5: 110,489,479 (GRCm39) I251V probably damaging Het
Phf10 G A 17: 15,166,493 (GRCm39) T459I probably damaging Het
Prg4 T A 1: 150,331,354 (GRCm39) probably benign Het
Pum3 A T 19: 27,367,612 (GRCm39) I639N probably benign Het
Rlf T A 4: 121,005,276 (GRCm39) K1235* probably null Het
Ryr3 T A 2: 112,859,016 (GRCm39) I46F probably benign Het
Sall3 A G 18: 81,016,183 (GRCm39) S582P probably benign Het
Scn3b A C 9: 40,181,338 (GRCm39) Y17S probably benign Het
Senp8 A G 9: 59,644,611 (GRCm39) C169R probably damaging Het
Sgsm1 C T 5: 113,398,859 (GRCm39) A1025T probably damaging Het
Six1 T C 12: 73,090,514 (GRCm39) E217G possibly damaging Het
Slc38a8 T C 8: 120,212,251 (GRCm39) D364G probably damaging Het
Stk10 A T 11: 32,564,592 (GRCm39) E801V probably damaging Het
Ston2 A T 12: 91,614,431 (GRCm39) I659N probably damaging Het
Stxbp4 T C 11: 90,462,579 (GRCm39) Q331R probably benign Het
Synpo2 A T 3: 122,914,864 (GRCm39) V54E probably damaging Het
Tax1bp1 A G 6: 52,713,932 (GRCm39) D237G possibly damaging Het
Tmigd1 T C 11: 76,797,774 (GRCm39) Y39H probably benign Het
Vmn1r15 A G 6: 57,235,458 (GRCm39) T109A probably benign Het
Vmn1r209 T C 13: 22,990,024 (GRCm39) Y222C possibly damaging Het
Zfp809 A G 9: 22,146,347 (GRCm39) D12G probably damaging Het
Other mutations in Parva
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Parva APN 7 112,176,217 (GRCm39) splice site probably benign
IGL01934:Parva APN 7 112,187,760 (GRCm39) nonsense probably null
IGL02280:Parva APN 7 112,159,226 (GRCm39) missense probably benign 0.01
IGL02623:Parva APN 7 112,175,646 (GRCm39) missense probably damaging 1.00
R0331:Parva UTSW 7 112,144,005 (GRCm39) missense probably benign
R0620:Parva UTSW 7 112,175,618 (GRCm39) missense probably damaging 0.99
R0815:Parva UTSW 7 112,167,071 (GRCm39) missense probably damaging 0.99
R2143:Parva UTSW 7 112,159,274 (GRCm39) missense possibly damaging 0.83
R5355:Parva UTSW 7 112,143,475 (GRCm39) critical splice donor site probably null
R5379:Parva UTSW 7 112,178,927 (GRCm39) missense probably benign 0.44
R5588:Parva UTSW 7 112,159,269 (GRCm39) missense possibly damaging 0.72
R5602:Parva UTSW 7 112,166,972 (GRCm39) missense probably benign 0.00
R5896:Parva UTSW 7 112,143,960 (GRCm39) missense probably benign 0.03
R6878:Parva UTSW 7 112,175,656 (GRCm39) missense possibly damaging 0.63
R8882:Parva UTSW 7 112,027,211 (GRCm39) missense probably benign 0.10
R9598:Parva UTSW 7 112,187,753 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02