Incidental Mutation 'R9598:Parva'
ID 723389
Institutional Source Beutler Lab
Gene Symbol Parva
Ensembl Gene ENSMUSG00000030770
Gene Name parvin, alpha
Synonyms 2010012A22Rik, actopaxin, CH-ILKBP, 5430400F08Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9598 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 112027102-112190899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112187753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 350 (V350D)
Ref Sequence ENSEMBL: ENSMUSP00000033030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033030] [ENSMUST00000106640] [ENSMUST00000106643]
AlphaFold Q9EPC1
Predicted Effect probably damaging
Transcript: ENSMUST00000033030
AA Change: V350D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033030
Gene: ENSMUSG00000030770
AA Change: V350D

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: V314D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102251
Gene: ENSMUSG00000030770
AA Change: V314D

DomainStartEndE-ValueType
CH 61 161 3.61e-1 SMART
CH 228 331 6.69e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106643
AA Change: V350D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102254
Gene: ENSMUSG00000030770
AA Change: V350D

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: 99.6%
  • 20x: 98.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,088,604 (GRCm39) I302V probably benign Het
Ackr2 A C 9: 121,737,657 (GRCm39) T11P possibly damaging Het
Ahnak A G 19: 8,981,149 (GRCm39) N811S probably benign Het
Atm T C 9: 53,431,381 (GRCm39) I326V probably benign Het
Ccn4 T A 15: 66,784,764 (GRCm39) C146S possibly damaging Het
Cdh23 A T 10: 60,214,574 (GRCm39) F1480L probably benign Het
Celsr2 T C 3: 108,322,578 (GRCm39) E78G possibly damaging Het
Ces1f A T 8: 93,983,494 (GRCm39) N504K probably benign Het
Chrna4 G A 2: 180,679,264 (GRCm39) S61L probably damaging Het
Clcn3 G T 8: 61,366,061 (GRCm39) T864K unknown Het
Cym A C 3: 107,126,941 (GRCm39) D71E possibly damaging Het
Ddx19b T C 8: 111,747,673 (GRCm39) D87G probably benign Het
Dnah7b T C 1: 46,292,621 (GRCm39) V3002A possibly damaging Het
Dnmt3a G A 12: 3,946,997 (GRCm39) G408S probably benign Het
Dock10 A T 1: 80,625,939 (GRCm39) D66E probably benign Het
Dsg3 A G 18: 20,672,789 (GRCm39) D820G probably damaging Het
Dst G A 1: 34,153,014 (GRCm39) V92I possibly damaging Het
Dusp16 T A 6: 134,695,185 (GRCm39) T549S probably benign Het
Ephx1 T A 1: 180,827,381 (GRCm39) K91* probably null Het
Flii A G 11: 60,617,991 (GRCm39) F9L probably benign Het
Fmn2 T C 1: 174,436,308 (GRCm39) S760P unknown Het
Fmnl3 A T 15: 99,223,210 (GRCm39) V378E probably damaging Het
Gbp4 A G 5: 105,284,740 (GRCm39) S50P probably damaging Het
Glra3 G T 8: 56,393,718 (GRCm39) probably benign Het
Gm10188 T C 1: 132,157,033 (GRCm39) D111G unknown Het
Gnptab A T 10: 88,247,876 (GRCm39) E101V probably damaging Het
Hacl1 C A 14: 31,332,197 (GRCm39) M525I probably benign Het
Hid1 T A 11: 115,239,738 (GRCm39) T731S probably damaging Het
Ifi203 T C 1: 173,751,522 (GRCm39) Y847C probably damaging Het
Igfbpl1 C A 4: 45,815,472 (GRCm39) L221F probably null Het
Ighv1-12 A G 12: 114,579,757 (GRCm39) Y22H probably benign Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
L3mbtl4 T A 17: 68,866,767 (GRCm39) H335Q probably benign Het
Mapre2 A G 18: 24,016,707 (GRCm39) D287G probably benign Het
Mfsd14b G A 13: 65,214,522 (GRCm39) R477W probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Msh4 A T 3: 153,607,148 (GRCm39) S131T possibly damaging Het
Nat8f2 A T 6: 85,844,848 (GRCm39) D171E probably benign Het
Ndufb5 G T 3: 32,795,881 (GRCm39) L24F probably benign Het
Nkain2 T C 10: 32,278,291 (GRCm39) I45V probably damaging Het
Nlrp9b T G 7: 19,753,302 (GRCm39) M69R probably benign Het
Or4k37 A T 2: 111,159,633 (GRCm39) R290* probably null Het
Or5d39 A C 2: 87,979,935 (GRCm39) C143G probably damaging Het
Or5d46 A T 2: 88,170,821 (GRCm39) K304I possibly damaging Het
Oxct2b T A 4: 123,010,413 (GRCm39) V111E possibly damaging Het
Pcdhb7 A G 18: 37,475,434 (GRCm39) D190G probably damaging Het
Pik3c2b T C 1: 133,012,725 (GRCm39) probably null Het
Plcz1 T A 6: 139,985,484 (GRCm39) Q19L possibly damaging Het
Prag1 A G 8: 36,571,069 (GRCm39) N551D probably benign Het
Rb1cc1 G A 1: 6,310,189 (GRCm39) V196I probably damaging Het
Rnf113a2 T C 12: 84,464,270 (GRCm39) V54A probably benign Het
Sec14l1 G A 11: 117,044,102 (GRCm39) E537K probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Shtn1 T A 19: 59,026,735 (GRCm39) I119F probably damaging Het
Szt2 A G 4: 118,266,358 (GRCm39) probably null Het
Tasp1 T C 2: 139,819,567 (GRCm39) D212G probably benign Het
Tmpo A G 10: 90,994,608 (GRCm39) probably null Het
Usp17lb T C 7: 104,489,718 (GRCm39) K403R probably benign Het
Vcpip1 A G 1: 9,816,019 (GRCm39) V788A probably benign Het
Wdr25 C A 12: 108,864,613 (GRCm39) H253N probably benign Het
Wwc2 G A 8: 48,328,360 (GRCm39) S367L probably damaging Het
Zfr A G 15: 12,162,292 (GRCm39) E814G 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
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
Predicted Primers PCR Primer
(F):5'- TGAGTTCTCACTGCACACCTG -3'
(R):5'- TAATGTCCACTATCTCTGGGTGG -3'

Sequencing Primer
(F):5'- ACTGCACACCTGCCTGTTC -3'
(R):5'- CCACTATCTCTGGGTGGTTGCTG -3'
Posted On 2022-08-09