Incidental Mutation 'R5355:Parva'
ID 424041
Institutional Source Beutler Lab
Gene Symbol Parva
Ensembl Gene ENSMUSG00000030770
Gene Name parvin, alpha
Synonyms 2010012A22Rik, actopaxin, CH-ILKBP, 5430400F08Rik
MMRRC Submission 042934-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5355 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 112027102-112190899 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 112143475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000102254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033030] [ENSMUST00000106640] [ENSMUST00000106640] [ENSMUST00000106643] [ENSMUST00000139720]
AlphaFold Q9EPC1
Predicted Effect probably null
Transcript: ENSMUST00000033030
SMART Domains Protein: ENSMUSP00000033030
Gene: ENSMUSG00000030770

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 null
Transcript: ENSMUST00000106640
SMART Domains Protein: ENSMUSP00000102251
Gene: ENSMUSG00000030770

DomainStartEndE-ValueType
CH 61 161 3.61e-1 SMART
CH 228 331 6.69e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106640
SMART Domains Protein: ENSMUSP00000102251
Gene: ENSMUSG00000030770

DomainStartEndE-ValueType
CH 61 161 3.61e-1 SMART
CH 228 331 6.69e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106643
SMART Domains Protein: ENSMUSP00000102254
Gene: ENSMUSG00000030770

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: ENSMUST00000139720
SMART Domains Protein: ENSMUSP00000118587
Gene: ENSMUSG00000030770

DomainStartEndE-ValueType
low complexity region 7 28 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 94% (50/53)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,776,873 (GRCm39) L857P probably damaging Het
Adam12 T C 7: 133,489,671 (GRCm39) *582W probably null Het
Adra1d A G 2: 131,403,007 (GRCm39) V361A probably damaging Het
Ank2 A G 3: 126,737,698 (GRCm39) probably benign Het
Atxn10 T A 15: 85,346,515 (GRCm39) N424K probably damaging Het
C8b A G 4: 104,637,860 (GRCm39) T111A probably benign Het
Ccdc168 A C 1: 44,097,139 (GRCm39) C1320G possibly damaging Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdr2l T C 11: 115,284,396 (GRCm39) V244A possibly damaging Het
Col11a2 A G 17: 34,270,775 (GRCm39) M468V probably benign Het
Col4a2 G A 8: 11,495,984 (GRCm39) R1535H probably damaging Het
Cryab A T 9: 50,664,751 (GRCm39) S59C probably damaging Het
Cuzd1 G A 7: 130,917,853 (GRCm39) T249I probably damaging Het
Disp2 G A 2: 118,617,392 (GRCm39) V129M probably benign Het
Dlg2 G T 7: 91,099,011 (GRCm39) R31L probably benign Het
Dthd1 A C 5: 62,996,730 (GRCm39) L488F probably damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
Fat2 T G 11: 55,172,992 (GRCm39) I2574L probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fryl T C 5: 73,231,247 (GRCm39) D1610G probably damaging Het
Gm10330 T A 12: 23,830,131 (GRCm39) N17Y probably damaging Het
Gm4787 T A 12: 81,424,239 (GRCm39) R640* probably null Het
H2bc13 A T 13: 21,900,030 (GRCm39) I95N probably damaging Het
Ift88 T A 14: 57,675,699 (GRCm39) S71T probably benign Het
Isoc2b A G 7: 4,852,357 (GRCm39) probably benign Het
Itgb2 G T 10: 77,393,886 (GRCm39) R442L probably benign Het
Lama5 A T 2: 179,823,444 (GRCm39) N2658K possibly damaging Het
Lemd3 A T 10: 120,769,538 (GRCm39) I598K probably damaging Het
Lrp2 A T 2: 69,285,182 (GRCm39) C3825* probably null Het
Mep1a T C 17: 43,788,037 (GRCm39) D673G probably damaging Het
Met A G 6: 17,491,361 (GRCm39) Y41C probably damaging Het
Mfn2 A G 4: 147,979,035 (GRCm39) V99A probably damaging Het
Mmadhc A G 2: 50,181,436 (GRCm39) I78T probably benign Het
Mmp9 C A 2: 164,792,912 (GRCm39) P389T possibly damaging Het
Mvk T G 5: 114,590,499 (GRCm39) S7A probably damaging Het
Nlrp1a T A 11: 71,015,077 (GRCm39) T58S probably benign Het
Nlrp1c-ps C A 11: 71,148,839 (GRCm39) noncoding transcript Het
Nr1h3 A G 2: 91,022,253 (GRCm39) I125T possibly damaging Het
Or2a55-ps1 C T 6: 43,071,598 (GRCm39) noncoding transcript Het
Or8k39 A T 2: 86,563,680 (GRCm39) I92K probably damaging Het
Parn A G 16: 13,485,886 (GRCm39) I3T possibly damaging Het
Parp8 A G 13: 116,998,740 (GRCm39) probably null Het
Pwp2 A C 10: 78,011,378 (GRCm39) I672M possibly damaging Het
Sfswap C T 5: 129,616,810 (GRCm39) T418I probably benign Het
Slc6a3 A G 13: 73,709,078 (GRCm39) Y334C probably damaging Het
Slc7a13 C A 4: 19,839,267 (GRCm39) T290K probably benign Het
Spry2 A G 14: 106,130,712 (GRCm39) L158P probably damaging Het
Usp25 A G 16: 76,847,342 (GRCm39) E150G probably damaging Het
Zfp747 A G 7: 126,973,769 (GRCm39) F134L possibly damaging Het
Zp3r A G 1: 130,524,518 (GRCm39) F175S probably benign Het
Zscan22 C A 7: 12,640,435 (GRCm39) N67K 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
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
Predicted Primers PCR Primer
(F):5'- CAGCATCAGTGTTGGTCATGAC -3'
(R):5'- GAAATAACTGTGAGCGCTCAG -3'

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