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 5430400F08Rik, actopaxin, 2010012A22Rik, CH-ILKBP
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02623
Quality Score
Status
Chromosome 7
Chromosomal Location 112427505-112591692 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112576439 bp (GRCm38)
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: 91,056,144 I35F probably benign Het
Acad10 A G 5: 121,629,930 V819A possibly damaging Het
Adgrd1 A T 5: 129,132,745 N279Y probably damaging Het
Aplp2 C A 9: 31,178,083 probably benign Het
Armc8 T C 9: 99,527,069 probably benign Het
B3gnt5 A G 16: 19,769,610 D193G probably damaging Het
Cacng1 A G 11: 107,704,319 F144S probably damaging Het
Dnm3 T A 1: 162,355,432 T105S probably damaging Het
Efcab6 T A 15: 83,879,448 I1228F probably damaging Het
Erc2 A G 14: 27,776,980 D271G probably damaging Het
Fat3 T C 9: 15,997,137 Y2523C probably damaging Het
Fhl4 A G 10: 85,098,171 F249L probably damaging Het
Gm17782 T C 17: 36,162,066 probably benign Het
Gm4787 A G 12: 81,378,728 Y219H probably damaging Het
Hk1 A G 10: 62,292,359 L328P probably benign Het
Hspa12a T A 19: 58,809,551 Y245F probably benign Het
Kbtbd12 T C 6: 88,618,389 Y153C probably damaging Het
Kcnd2 A T 6: 21,726,195 R562S probably benign Het
Lct T C 1: 128,308,251 S340G probably benign Het
Maats1 T A 16: 38,333,778 D135V possibly damaging Het
Mettl25 C A 10: 105,826,324 G262W probably damaging Het
Mindy3 G A 2: 12,364,483 Q142* probably null Het
Olfr1045 A T 2: 86,198,019 H244Q probably damaging Het
Optn T C 2: 5,035,022 E318G probably damaging Het
Pan2 T C 10: 128,312,899 S443P probably benign Het
Pkhd1l1 T A 15: 44,584,873 L3816Q probably damaging Het
Polq T C 16: 37,060,375 F967S probably benign Het
Prdm16 T C 4: 154,340,877 N817S probably damaging Het
Ptprt C A 2: 161,607,452 probably benign Het
Rbbp8nl T A 2: 180,281,443 S154C probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slit1 T C 19: 41,651,683 I169V probably damaging Het
Smyd4 G T 11: 75,390,064 probably benign Het
Tial1 A G 7: 128,443,883 Y326H probably benign Het
Tmem198b A G 10: 128,802,451 L81P probably damaging Het
Tmem94 T A 11: 115,796,401 C1115* probably null Het
Tns3 A G 11: 8,437,141 S1349P probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zfp106 A T 2: 120,545,914 probably null Het
Zfp119b T C 17: 55,939,793 E99G probably damaging Het
Zfp462 T A 4: 55,012,986 C503S probably damaging Het
Zfyve19 G A 2: 119,212,015 probably null Het
Zxdc G T 6: 90,382,370 K661N 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
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
R8882:Parva UTSW 7 112428004 missense probably benign 0.10
R9598:Parva UTSW 7 112588546 missense probably damaging 1.00
Posted On 2015-04-16