Incidental Mutation 'R6878:Parva'
ID 536514
Institutional Source Beutler Lab
Gene Symbol Parva
Ensembl Gene ENSMUSG00000030770
Gene Name parvin, alpha
Synonyms 2010012A22Rik, actopaxin, CH-ILKBP, 5430400F08Rik
MMRRC Submission 044974-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6878 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 112027102-112190899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112175656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 226 (N226K)
Ref Sequence ENSEMBL: ENSMUSP00000102251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033030] [ENSMUST00000106640] [ENSMUST00000106643]
AlphaFold Q9EPC1
Predicted Effect probably benign
Transcript: ENSMUST00000033030
AA Change: N262K

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033030
Gene: ENSMUSG00000030770
AA Change: N262K

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 possibly damaging
Transcript: ENSMUST00000106640
AA Change: N226K

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102251
Gene: ENSMUSG00000030770
AA Change: N226K

DomainStartEndE-ValueType
CH 61 161 3.61e-1 SMART
CH 228 331 6.69e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106643
AA Change: N262K

PolyPhen 2 Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102254
Gene: ENSMUSG00000030770
AA Change: N262K

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.7%
Validation Efficiency 98% (44/45)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,581,613 (GRCm39) N4810K probably benign Het
Arhgap26 A T 18: 39,360,465 (GRCm39) I397F probably damaging Het
Arhgap35 A G 7: 16,299,038 (GRCm39) V9A probably benign Het
Asl A G 5: 130,053,133 (GRCm39) probably null Het
Atg2a T A 19: 6,300,208 (GRCm39) L672Q probably damaging Het
B4galt1 T C 4: 40,809,694 (GRCm39) D316G probably damaging Het
Bpifb2 A G 2: 153,717,832 (GRCm39) probably benign Het
Ccl1 T C 11: 82,070,519 (GRCm39) I18V probably benign Het
Cd47 A G 16: 49,731,232 (GRCm39) E278G possibly damaging Het
Cilp G A 9: 65,187,129 (GRCm39) G1075S probably damaging Het
Eml2 T C 7: 18,934,537 (GRCm39) V604A probably benign Het
Fancm A T 12: 65,163,197 (GRCm39) R1454* probably null Het
Gm4302 TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 10: 100,177,361 (GRCm39) probably benign Het
Gm4302 GCA GCACCA 10: 100,177,377 (GRCm39) probably benign Het
Gm4302 CAG CAGAAG 10: 100,177,369 (GRCm39) probably benign Het
Hif1a T C 12: 73,975,055 (GRCm39) M147T possibly damaging Het
Hps5 C G 7: 46,433,058 (GRCm39) A221P probably damaging Het
Lrrc49 A G 9: 60,587,431 (GRCm39) S67P probably damaging Het
Madd T A 2: 91,000,202 (GRCm39) N568I probably damaging Het
Meikin T C 11: 54,302,712 (GRCm39) S375P possibly damaging Het
Mfsd6 G T 1: 52,747,912 (GRCm39) Q318K probably damaging Het
Mis18a A T 16: 90,518,644 (GRCm39) I106N probably damaging Het
Myl2 T C 5: 122,243,140 (GRCm39) I148T probably benign Het
Myrf T C 19: 10,193,842 (GRCm39) Q730R possibly damaging Het
Nf1 T C 11: 79,325,708 (GRCm39) L560P probably damaging Het
Npat A G 9: 53,467,899 (GRCm39) T285A probably benign Het
Ntrk3 T A 7: 77,954,120 (GRCm39) D547V probably benign Het
Obox2 G T 7: 15,131,245 (GRCm39) S117I probably benign Het
Or8k32 A G 2: 86,369,109 (GRCm39) L48P probably damaging Het
Pcdha3 T A 18: 37,080,416 (GRCm39) L386* probably null Het
Ppip5k1 A G 2: 121,142,417 (GRCm39) F1323S probably benign Het
Prkdc T C 16: 15,594,936 (GRCm39) V2771A probably benign Het
Prl7c1 T C 13: 27,962,827 (GRCm39) T59A possibly damaging Het
Rab15 T C 12: 76,851,257 (GRCm39) T20A probably benign Het
Rp1l1 A G 14: 64,269,301 (GRCm39) E1629G probably benign Het
Rpap1 A T 2: 119,608,657 (GRCm39) L235Q probably damaging Het
Sema3a A T 5: 13,505,511 (GRCm39) I91F possibly damaging Het
Snx6 T C 12: 54,810,386 (GRCm39) probably null Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Speer4f2 T G 5: 17,580,765 (GRCm39) M114R probably damaging Het
Syne1 T C 10: 5,370,388 (GRCm39) D264G possibly damaging Het
Tbl1xr1 T G 3: 22,257,368 (GRCm39) N410K possibly damaging Het
Tmed7 A T 18: 46,726,532 (GRCm39) D74E probably damaging Het
Upk3b T C 5: 136,068,001 (GRCm39) V64A probably benign Het
Vmn2r29 A G 7: 7,244,863 (GRCm39) V337A probably benign Het
Yy1 C G 12: 108,780,682 (GRCm39) P352A probably damaging Het
Zfp1005 C T 2: 150,108,406 (GRCm39) L56F possibly damaging Het
Zfp873 T C 10: 81,896,529 (GRCm39) I457T probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- ATTCTGCTTAGAAACATGTCGCC -3'
(R):5'- TGATCCCTGCTTTGGTACCG -3'

Sequencing Primer
(F):5'- GTCGCCTGACAGACACACAG -3'
(R):5'- TGGTACCGCCTCCTGTG -3'
Posted On 2018-10-18