Incidental Mutation 'R5379:Parva'
ID 425749
Institutional Source Beutler Lab
Gene Symbol Parva
Ensembl Gene ENSMUSG00000030770
Gene Name parvin, alpha
Synonyms 2010012A22Rik, actopaxin, CH-ILKBP, 5430400F08Rik
MMRRC Submission 042954-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5379 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 112027102-112190899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112178927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 311 (H311L)
Ref Sequence ENSEMBL: ENSMUSP00000102254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033030] [ENSMUST00000106640] [ENSMUST00000106643]
AlphaFold Q9EPC1
Predicted Effect probably benign
Transcript: ENSMUST00000033030
AA Change: H311L

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033030
Gene: ENSMUSG00000030770
AA Change: H311L

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
AA Change: H275L

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102251
Gene: ENSMUSG00000030770
AA Change: H275L

DomainStartEndE-ValueType
CH 61 161 3.61e-1 SMART
CH 228 331 6.69e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106643
AA Change: H311L

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102254
Gene: ENSMUSG00000030770
AA Change: H311L

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
Meta Mutation Damage Score 0.1238 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,096,532 (GRCm39) L640Q probably damaging Het
Afap1l1 T C 18: 61,891,721 (GRCm39) E32G probably damaging Het
Atp1a1 T A 3: 101,489,411 (GRCm39) M734L probably benign Het
B4galt6 T C 18: 20,822,296 (GRCm39) D294G probably damaging Het
Baz1a T G 12: 54,941,133 (GRCm39) D1539A probably damaging Het
Bmper T A 9: 23,208,520 (GRCm39) S141T probably benign Het
Camkv T C 9: 107,822,545 (GRCm39) V20A probably damaging Het
Chst8 A G 7: 34,375,279 (GRCm39) Y187H probably damaging Het
Coro1c A G 5: 113,983,443 (GRCm39) Y362H probably damaging Het
Csmd3 C A 15: 47,499,846 (GRCm39) G3008* probably null Het
Dnah17 T C 11: 118,008,029 (GRCm39) probably benign Het
Dnajb1 C T 8: 84,335,135 (GRCm39) R59C possibly damaging Het
Dpf1 A G 7: 29,003,533 (GRCm39) K10E probably benign Het
Eif5 T C 12: 111,509,989 (GRCm39) L311P probably damaging Het
Eqtn A G 4: 94,795,825 (GRCm39) F251S probably damaging Het
Fancg A G 4: 43,002,998 (GRCm39) S620P probably benign Het
Farp1 T C 14: 121,494,169 (GRCm39) V550A possibly damaging Het
Fat2 T C 11: 55,194,767 (GRCm39) T1091A probably damaging Het
Fbxo33 A G 12: 59,266,246 (GRCm39) probably benign Het
Fndc5 A T 4: 129,035,887 (GRCm39) I175F probably damaging Het
Gtf2ird2 G C 5: 134,246,310 (GRCm39) R856P probably benign Het
Hc A T 2: 34,881,077 (GRCm39) F1481I probably damaging Het
Helz2 T A 2: 180,876,862 (GRCm39) T1211S probably benign Het
Hmcn2 G A 2: 31,299,023 (GRCm39) V2790M probably damaging Het
Ighv1-82 T C 12: 115,916,297 (GRCm39) Y71C probably damaging Het
Itgam A G 7: 127,711,560 (GRCm39) D725G probably damaging Het
Kif9 T C 9: 110,350,371 (GRCm39) V754A probably benign Het
Larp4b C A 13: 9,186,945 (GRCm39) T91K probably benign Het
Mki67 T C 7: 135,299,190 (GRCm39) E1948G possibly damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mrgprb13 A T 7: 47,961,496 (GRCm39) noncoding transcript Het
Nlrc4 A T 17: 74,755,078 (GRCm39) L46* probably null Het
Or13c7c A G 4: 43,836,010 (GRCm39) I160T probably benign Het
Or7g21 A T 9: 19,032,373 (GRCm39) T38S probably damaging Het
Or8d1b T C 9: 38,887,151 (GRCm39) Y60H possibly damaging Het
Orm1 A G 4: 63,264,230 (GRCm39) probably null Het
Pramel25 A G 4: 143,521,493 (GRCm39) I370V probably benign Het
Proca1 C A 11: 78,096,092 (GRCm39) S154R probably damaging Het
R3hdm2 T C 10: 127,307,771 (GRCm39) V344A probably damaging Het
Rabep1 A T 11: 70,799,247 (GRCm39) K293N probably damaging Het
Ranbp6 A G 19: 29,789,083 (GRCm39) V423A probably damaging Het
Rnf20 T A 4: 49,652,639 (GRCm39) Y711N possibly damaging Het
Sf3b1 A T 1: 55,042,309 (GRCm39) M498K possibly damaging Het
Sin3a T C 9: 57,018,272 (GRCm39) M897T probably benign Het
Sp140 T A 1: 85,538,549 (GRCm39) D95E possibly damaging Het
Srbd1 A C 17: 86,308,964 (GRCm39) I738S possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Svep1 A G 4: 58,072,991 (GRCm39) V2106A possibly damaging Het
Tasor2 T C 13: 3,638,496 (GRCm39) R412G probably benign Het
Tex47 G A 5: 7,354,843 (GRCm39) R8Q probably null Het
Trpc7 A G 13: 56,952,363 (GRCm39) Y548H probably damaging Het
Vmn1r170 A T 7: 23,306,054 (GRCm39) H152L possibly damaging Het
Zfp184 A G 13: 22,144,051 (GRCm39) I586V probably damaging Het
Zfp454 T C 11: 50,774,629 (GRCm39) T15A 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
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
Predicted Primers PCR Primer
(F):5'- AGTGGTGTCCCTTCCAGTAG -3'
(R):5'- TGCCAAGCCCAACTCTTACTAG -3'

Sequencing Primer
(F):5'- TAACACATGGGGCAGCTTC -3'
(R):5'- TACTAGAGAGGCTCCATCTCC -3'
Posted On 2016-08-04