Incidental Mutation 'IGL02623:Parva'
ID 300970
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 # IGL02623
Quality Score
Status
Chromosome 7
Chromosomal Location 112027102-112190899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112175646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 259 (D259G)
Ref Sequence ENSEMBL: ENSMUSP00000102254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033030] [ENSMUST00000106640] [ENSMUST00000106643]
AlphaFold Q9EPC1
Predicted Effect probably damaging
Transcript: ENSMUST00000033030
AA Change: D259G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033030
Gene: ENSMUSG00000030770
AA Change: D259G

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 damaging
Transcript: ENSMUST00000106640
AA Change: D223G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000102251
Gene: ENSMUSG00000030770
AA Change: D223G

DomainStartEndE-ValueType
CH 61 161 3.61e-1 SMART
CH 228 331 6.69e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106643
AA Change: D259G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102254
Gene: ENSMUSG00000030770
AA Change: D259G

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,853,032 (GRCm39) I35F probably benign Het
Acad10 A G 5: 121,767,993 (GRCm39) V819A possibly damaging Het
Adgrd1 A T 5: 129,209,809 (GRCm39) N279Y probably damaging Het
Aplp2 C A 9: 31,089,379 (GRCm39) probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,360 (GRCm39) D193G probably damaging Het
Cacng1 A G 11: 107,595,145 (GRCm39) F144S probably damaging Het
Cfap91 T A 16: 38,154,140 (GRCm39) D135V possibly damaging Het
Dnm3 T A 1: 162,183,001 (GRCm39) T105S probably damaging Het
Efcab6 T A 15: 83,763,649 (GRCm39) I1228F probably damaging Het
Erc2 A G 14: 27,498,937 (GRCm39) D271G probably damaging Het
Fat3 T C 9: 15,908,433 (GRCm39) Y2523C probably damaging Het
Fhl4 A G 10: 84,934,035 (GRCm39) F249L probably damaging Het
Gm17782 T C 17: 36,472,958 (GRCm39) probably benign Het
Gm4787 A G 12: 81,425,502 (GRCm39) Y219H probably damaging Het
Hk1 A G 10: 62,128,138 (GRCm39) L328P probably benign Het
Hspa12a T A 19: 58,797,983 (GRCm39) Y245F probably benign Het
Kbtbd12 T C 6: 88,595,371 (GRCm39) Y153C probably damaging Het
Kcnd2 A T 6: 21,726,194 (GRCm39) R562S probably benign Het
Lct T C 1: 128,235,988 (GRCm39) S340G probably benign Het
Mettl25 C A 10: 105,662,185 (GRCm39) G262W probably damaging Het
Mindy3 G A 2: 12,369,294 (GRCm39) Q142* probably null Het
Optn T C 2: 5,039,833 (GRCm39) E318G probably damaging Het
Or8j3 A T 2: 86,028,363 (GRCm39) H244Q probably damaging Het
Pan2 T C 10: 128,148,768 (GRCm39) S443P probably benign Het
Pkhd1l1 T A 15: 44,448,269 (GRCm39) L3816Q probably damaging Het
Polq T C 16: 36,880,737 (GRCm39) F967S probably benign Het
Prdm16 T C 4: 154,425,334 (GRCm39) N817S probably damaging Het
Ptprt C A 2: 161,449,372 (GRCm39) probably benign Het
Rbbp8nl T A 2: 179,923,236 (GRCm39) S154C probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slit1 T C 19: 41,640,122 (GRCm39) I169V probably damaging Het
Smyd4 G T 11: 75,280,890 (GRCm39) probably benign Het
Tial1 A G 7: 128,045,607 (GRCm39) Y326H probably benign Het
Tmem198b A G 10: 128,638,320 (GRCm39) L81P probably damaging Het
Tmem94 T A 11: 115,687,227 (GRCm39) C1115* probably null Het
Tns3 A G 11: 8,387,141 (GRCm39) S1349P probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zfp106 A T 2: 120,376,395 (GRCm39) probably null Het
Zfp119b T C 17: 56,246,793 (GRCm39) E99G probably damaging Het
Zfp462 T A 4: 55,012,986 (GRCm39) C503S probably damaging Het
Zfyve19 G A 2: 119,042,496 (GRCm39) probably null Het
Zxdc G T 6: 90,359,352 (GRCm39) K661N 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
IGL03177:Parva APN 7 112,172,140 (GRCm39) splice site probably benign
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 2015-04-16