Incidental Mutation 'IGL03088:Parvb'
ID 418249
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Parvb
Ensembl Gene ENSMUSG00000022438
Gene Name parvin, beta
Synonyms D15Gsk1, affixin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03088
Quality Score
Status
Chromosome 15
Chromosomal Location 84116244-84199889 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 84193044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023072]
AlphaFold Q9ES46
Predicted Effect probably benign
Transcript: ENSMUST00000023072
SMART Domains Protein: ENSMUSP00000023072
Gene: ENSMUSG00000022438

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
CH 90 190 3.46e-1 SMART
low complexity region 204 211 N/A INTRINSIC
CH 257 360 9.18e-2 SMART
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, which play a role in cytoskeleton organization and cell adhesion. These proteins are associated with focal contacts and contain calponin homology domains that bind to actin filaments. This family member binds to alphaPIX and alpha-actinin, and it can inhibit the activity of integrin-linked kinase. This protein also functions in tumor suppression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Disruption of this marker has no apparent adverse consequences. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T G 11: 58,184,210 (GRCm39) L299R unknown Het
Abca9 T G 11: 110,035,087 (GRCm39) R693S probably benign Het
Adamts20 A T 15: 94,227,795 (GRCm39) probably null Het
Afg1l T A 10: 42,302,493 (GRCm39) D169V probably damaging Het
Agbl1 T A 7: 76,369,890 (GRCm39) M663K probably benign Het
Angpt2 T A 8: 18,791,039 (GRCm39) I86F probably benign Het
Ankrd2 G A 19: 42,030,424 (GRCm39) E160K probably null Het
As3mt G T 19: 46,696,233 (GRCm39) V14F probably damaging Het
Atp6v0a2 T C 5: 124,791,171 (GRCm39) probably benign Het
Atp6v0d1 T A 8: 106,257,591 (GRCm39) I113F probably damaging Het
Bank1 A G 3: 135,799,123 (GRCm39) I406T probably damaging Het
Bicdl1 A G 5: 115,801,881 (GRCm39) V59A possibly damaging Het
Brsk1 A G 7: 4,713,453 (GRCm39) probably benign Het
Cdh17 T A 4: 11,810,473 (GRCm39) N721K probably damaging Het
Cercam A G 2: 29,771,699 (GRCm39) probably benign Het
Clpb T A 7: 101,434,656 (GRCm39) L484* probably null Het
Creb3l1 T A 2: 91,825,739 (GRCm39) M127L probably benign Het
Cstdc1 A T 2: 148,625,327 (GRCm39) H87L possibly damaging Het
Ctla2b A C 13: 61,043,874 (GRCm39) D122E probably damaging Het
Cyb5rl C A 4: 106,938,225 (GRCm39) Y12* probably null Het
Dennd5a T C 7: 109,507,588 (GRCm39) Y800C probably damaging Het
Dmrt3 T G 19: 25,600,411 (GRCm39) S419A probably benign Het
Elapor1 A G 3: 108,443,674 (GRCm39) W31R probably damaging Het
Fbxo38 A G 18: 62,655,543 (GRCm39) V381A possibly damaging Het
Flg2 A T 3: 93,110,498 (GRCm39) H842L unknown Het
Fn1 A T 1: 71,653,197 (GRCm39) probably null Het
Fos A C 12: 85,522,630 (GRCm39) T181P possibly damaging Het
Fzd10 A G 5: 128,679,669 (GRCm39) Y463C possibly damaging Het
Gprc5b T C 7: 118,582,856 (GRCm39) M338V probably benign Het
Gsta4 T C 9: 78,113,345 (GRCm39) probably benign Het
Gstm2 T A 3: 107,893,362 (GRCm39) T34S probably benign Het
Haspin C T 11: 73,027,451 (GRCm39) R546Q probably damaging Het
Itgad G A 7: 127,802,204 (GRCm39) R958H probably benign Het
Kansl1l A T 1: 66,774,884 (GRCm39) H647Q probably damaging Het
Kif5c A C 2: 49,634,455 (GRCm39) R762S probably benign Het
Klf4 C A 4: 55,530,758 (GRCm39) A68S possibly damaging Het
Klf4 A G 4: 55,530,811 (GRCm39) L50P probably damaging Het
Kmt2c T C 5: 25,504,802 (GRCm39) E3502G probably damaging Het
Krt8 A G 15: 101,909,022 (GRCm39) I202T possibly damaging Het
Lmcd1 A T 6: 112,287,649 (GRCm39) T112S probably damaging Het
Lpxn T C 19: 12,810,575 (GRCm39) C340R probably damaging Het
Man2a2 C T 7: 80,009,082 (GRCm39) V844M possibly damaging Het
Map10 G A 8: 126,397,809 (GRCm39) E401K probably benign Het
Mark4 A T 7: 19,185,509 (GRCm39) L75Q probably damaging Het
Mlf2 T G 6: 124,910,945 (GRCm39) M81R probably damaging Het
Mup3 A G 4: 62,005,079 (GRCm39) I67T probably damaging Het
Mycbpap T C 11: 94,404,769 (GRCm39) probably null Het
Myt1l T C 12: 29,970,476 (GRCm39) V1185A probably benign Het
Ncoa7 C T 10: 30,574,121 (GRCm39) probably null Het
Nos1 C A 5: 118,005,323 (GRCm39) N14K probably damaging Het
Nova2 G T 7: 18,684,494 (GRCm39) V116F unknown Het
Obox3 G A 7: 15,360,927 (GRCm39) probably benign Het
Or10h1 A T 17: 33,418,534 (GRCm39) T171S probably benign Het
Or2t46 T A 11: 58,472,653 (GRCm39) probably benign Het
Or5v1 A G 17: 37,809,539 (GRCm39) probably benign Het
Or8b50 A T 9: 38,518,597 (GRCm39) S279C probably damaging Het
P2rx5 T A 11: 73,056,446 (GRCm39) probably benign Het
Popdc2 A T 16: 38,194,184 (GRCm39) T202S probably damaging Het
Ppm1j T A 3: 104,692,725 (GRCm39) Y411* probably null Het
Rapgefl1 C A 11: 98,740,058 (GRCm39) L484M probably damaging Het
Septin14 A G 5: 129,774,797 (GRCm39) probably benign Het
Slf1 A G 13: 77,232,554 (GRCm39) C517R probably damaging Het
Smyd3 A G 1: 178,921,898 (GRCm39) probably null Het
Snx9 A G 17: 5,974,885 (GRCm39) T458A probably benign Het
Srgap1 T C 10: 121,661,598 (GRCm39) D514G possibly damaging Het
Tbc1d14 A G 5: 36,682,308 (GRCm39) S311P probably damaging Het
Timd6 C A 11: 46,475,244 (GRCm39) F146L probably benign Het
Tmem150c T G 5: 100,234,076 (GRCm39) K91N probably damaging Het
Traf3 T A 12: 111,228,277 (GRCm39) M471K probably damaging Het
Tubd1 G T 11: 86,443,825 (GRCm39) G178C probably damaging Het
Vav2 T C 2: 27,157,262 (GRCm39) K847E possibly damaging Het
Vmn2r100 A T 17: 19,742,301 (GRCm39) H225L probably benign Het
Wrn A T 8: 33,758,851 (GRCm39) probably benign Het
Xpo7 T G 14: 70,918,702 (GRCm39) S710R probably benign Het
Zfp780b C T 7: 27,662,417 (GRCm39) V713I possibly damaging Het
Zkscan17 A T 11: 59,378,592 (GRCm39) I197N probably damaging Het
Other mutations in Parvb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Parvb APN 15 84,187,666 (GRCm39) missense probably damaging 1.00
IGL02415:Parvb APN 15 84,177,016 (GRCm39) missense probably damaging 1.00
IGL02458:Parvb APN 15 84,187,635 (GRCm39) missense probably damaging 1.00
IGL02937:Parvb APN 15 84,193,154 (GRCm39) missense probably damaging 1.00
R0422:Parvb UTSW 15 84,179,812 (GRCm39) missense probably benign 0.28
R1470:Parvb UTSW 15 84,155,453 (GRCm39) missense probably damaging 1.00
R1470:Parvb UTSW 15 84,155,509 (GRCm39) missense probably benign 0.00
R1470:Parvb UTSW 15 84,155,509 (GRCm39) missense probably benign 0.00
R1470:Parvb UTSW 15 84,155,453 (GRCm39) missense probably damaging 1.00
R1713:Parvb UTSW 15 84,182,192 (GRCm39) splice site probably benign
R2031:Parvb UTSW 15 84,167,036 (GRCm39) missense probably benign 0.09
R2146:Parvb UTSW 15 84,116,369 (GRCm39) missense possibly damaging 0.63
R2148:Parvb UTSW 15 84,116,369 (GRCm39) missense possibly damaging 0.63
R2149:Parvb UTSW 15 84,116,369 (GRCm39) missense possibly damaging 0.63
R2150:Parvb UTSW 15 84,116,369 (GRCm39) missense possibly damaging 0.63
R2508:Parvb UTSW 15 84,182,171 (GRCm39) missense probably benign
R4770:Parvb UTSW 15 84,188,106 (GRCm39) critical splice donor site probably null
R5948:Parvb UTSW 15 84,187,662 (GRCm39) missense probably damaging 1.00
R6492:Parvb UTSW 15 84,188,073 (GRCm39) missense probably damaging 1.00
R6718:Parvb UTSW 15 84,182,180 (GRCm39) missense probably damaging 0.96
R6719:Parvb UTSW 15 84,182,180 (GRCm39) missense probably damaging 0.96
R6720:Parvb UTSW 15 84,182,180 (GRCm39) missense probably damaging 0.96
R6722:Parvb UTSW 15 84,182,180 (GRCm39) missense probably damaging 0.96
R7189:Parvb UTSW 15 84,187,672 (GRCm39) critical splice donor site probably null
R7285:Parvb UTSW 15 84,166,985 (GRCm39) missense possibly damaging 0.94
R7492:Parvb UTSW 15 84,174,651 (GRCm39) missense probably damaging 0.98
R9046:Parvb UTSW 15 84,174,639 (GRCm39) missense probably benign 0.03
R9347:Parvb UTSW 15 84,155,523 (GRCm39) critical splice donor site probably null
R9373:Parvb UTSW 15 84,188,100 (GRCm39) missense probably damaging 0.98
R9714:Parvb UTSW 15 84,167,041 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02