Incidental Mutation 'IGL01480:Prkca'
ID 88570
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkca
Ensembl Gene ENSMUSG00000050965
Gene Name protein kinase C, alpha
Synonyms Pkca
Accession Numbers
Essential gene? Possibly essential (E-score: 0.744) question?
Stock # IGL01480
Quality Score
Status
Chromosome 11
Chromosomal Location 107824213-108234754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108083027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 73 (V73M)
Ref Sequence ENSEMBL: ENSMUSP00000062392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059595]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000059595
AA Change: V73M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062392
Gene: ENSMUSG00000050965
AA Change: V73M

DomainStartEndE-ValueType
C1 37 86 3.09e-16 SMART
C1 102 151 1.33e-15 SMART
C2 172 275 7.66e-26 SMART
S_TKc 339 597 8.85e-98 SMART
S_TK_X 598 660 1.58e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134725
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153899
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show no overt macroscopic abnormalities, however examination of one line revealed increased cardiac muscle contractility and protection against heart failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T A 12: 88,423,635 (GRCm39) C379* probably null Het
Ankrd10 A G 8: 11,685,592 (GRCm39) V9A probably benign Het
Ankrd13a A T 5: 114,938,879 (GRCm39) probably benign Het
Bbs1 T C 19: 4,944,421 (GRCm39) K403E probably damaging Het
Ccn3 A G 15: 54,615,687 (GRCm39) Y284C probably damaging Het
Cd200r2 A G 16: 44,729,629 (GRCm39) I95V probably null Het
Cyba T C 8: 123,151,684 (GRCm39) E171G probably benign Het
Dnah2 T A 11: 69,349,197 (GRCm39) M2480L possibly damaging Het
Fxyd7 A T 7: 30,746,799 (GRCm39) Y20* probably null Het
Il22ra1 T C 4: 135,472,112 (GRCm39) V216A probably benign Het
Mapk10 G A 5: 103,074,018 (GRCm39) probably benign Het
Mgat5b C A 11: 116,869,278 (GRCm39) T607K probably benign Het
Optn G A 2: 5,050,829 (GRCm39) S184L probably benign Het
Or10d5 G A 9: 39,861,284 (GRCm39) A261V probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or1p1c A T 11: 74,160,427 (GRCm39) I71L possibly damaging Het
Or7a42 T C 10: 78,791,978 (GRCm39) probably benign Het
Plxna1 A G 6: 89,321,078 (GRCm39) L462P possibly damaging Het
Ptch2 T C 4: 116,971,279 (GRCm39) V1062A probably damaging Het
Serpina11 T A 12: 103,949,110 (GRCm39) K354* probably null Het
Sf1 T C 19: 6,422,052 (GRCm39) probably benign Het
Stam2 A G 2: 52,606,451 (GRCm39) S112P probably benign Het
Tlr5 G A 1: 182,801,064 (GRCm39) E123K probably benign Het
Tpp1 T C 7: 105,398,260 (GRCm39) E301G probably damaging Het
Vmn2r58 T A 7: 41,514,116 (GRCm39) I176F probably benign Het
Other mutations in Prkca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Prkca APN 11 108,234,334 (GRCm39) missense probably benign 0.10
IGL00903:Prkca APN 11 107,874,800 (GRCm39) missense probably damaging 1.00
IGL01385:Prkca APN 11 107,869,178 (GRCm39) missense probably damaging 1.00
IGL01396:Prkca APN 11 107,905,148 (GRCm39) missense possibly damaging 0.59
IGL01480:Prkca APN 11 107,877,115 (GRCm39) missense possibly damaging 0.93
IGL01516:Prkca APN 11 107,852,428 (GRCm39) missense probably null 1.00
IGL01553:Prkca APN 11 107,948,660 (GRCm39) missense probably benign 0.15
IGL02975:Prkca APN 11 108,231,503 (GRCm39) nonsense probably null
IGL03402:Prkca APN 11 108,231,489 (GRCm39) missense probably benign 0.20
R0101:Prkca UTSW 11 107,948,626 (GRCm39) missense probably damaging 1.00
R0279:Prkca UTSW 11 107,944,937 (GRCm39) splice site probably benign
R0454:Prkca UTSW 11 107,869,106 (GRCm39) missense probably benign
R0513:Prkca UTSW 11 107,905,202 (GRCm39) missense possibly damaging 0.82
R0711:Prkca UTSW 11 107,872,480 (GRCm39) missense probably benign 0.16
R0894:Prkca UTSW 11 107,903,518 (GRCm39) missense possibly damaging 0.66
R0966:Prkca UTSW 11 107,905,110 (GRCm39) missense possibly damaging 0.56
R1432:Prkca UTSW 11 107,830,346 (GRCm39) missense probably benign 0.27
R1518:Prkca UTSW 11 107,869,142 (GRCm39) missense probably damaging 1.00
R1667:Prkca UTSW 11 107,874,772 (GRCm39) missense probably damaging 1.00
R1795:Prkca UTSW 11 107,903,518 (GRCm39) missense possibly damaging 0.66
R1909:Prkca UTSW 11 107,830,438 (GRCm39) missense possibly damaging 0.68
R1932:Prkca UTSW 11 108,082,975 (GRCm39) missense probably benign 0.13
R2509:Prkca UTSW 11 107,870,032 (GRCm39) missense probably damaging 1.00
R3889:Prkca UTSW 11 107,870,066 (GRCm39) missense probably damaging 1.00
R4018:Prkca UTSW 11 107,830,428 (GRCm39) missense probably damaging 1.00
R4684:Prkca UTSW 11 107,852,434 (GRCm39) missense probably damaging 0.99
R5132:Prkca UTSW 11 108,082,943 (GRCm39) splice site probably benign
R5298:Prkca UTSW 11 107,903,510 (GRCm39) missense probably damaging 0.98
R5546:Prkca UTSW 11 107,944,806 (GRCm39) missense probably benign 0.14
R5558:Prkca UTSW 11 107,872,473 (GRCm39) missense probably damaging 1.00
R5616:Prkca UTSW 11 107,869,169 (GRCm39) missense possibly damaging 0.85
R5626:Prkca UTSW 11 107,948,641 (GRCm39) missense possibly damaging 0.94
R5931:Prkca UTSW 11 107,905,136 (GRCm39) missense probably benign 0.01
R6061:Prkca UTSW 11 107,948,671 (GRCm39) missense probably benign 0.03
R7125:Prkca UTSW 11 107,874,848 (GRCm39) missense probably damaging 1.00
R7283:Prkca UTSW 11 108,231,471 (GRCm39) critical splice donor site probably null
R7329:Prkca UTSW 11 107,905,103 (GRCm39) missense possibly damaging 0.73
R7510:Prkca UTSW 11 107,874,820 (GRCm39) missense possibly damaging 0.89
R7670:Prkca UTSW 11 107,905,170 (GRCm39) missense probably damaging 0.98
R7890:Prkca UTSW 11 107,903,510 (GRCm39) missense probably damaging 0.98
R8769:Prkca UTSW 11 107,842,286 (GRCm39) splice site probably benign
R9040:Prkca UTSW 11 107,905,186 (GRCm39) missense possibly damaging 0.89
R9096:Prkca UTSW 11 107,905,061 (GRCm39) missense probably benign 0.00
R9097:Prkca UTSW 11 107,905,061 (GRCm39) missense probably benign 0.00
R9176:Prkca UTSW 11 107,870,244 (GRCm39) missense possibly damaging 0.83
R9763:Prkca UTSW 11 107,903,867 (GRCm39) missense possibly damaging 0.56
Posted On 2013-11-18