Incidental Mutation 'IGL02975:Prkca'
ID406323
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prkca
Ensembl Gene ENSMUSG00000050965
Gene Nameprotein kinase C, alpha
SynonymsPkca
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.282) question?
Stock #IGL02975
Quality Score
Status
Chromosome11
Chromosomal Location107933387-108343928 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 108340677 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 58 (W58*)
Ref Sequence ENSEMBL: ENSMUSP00000062392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059595] [ENSMUST00000133383]
Predicted Effect probably null
Transcript: ENSMUST00000059595
AA Change: W58*
SMART Domains Protein: ENSMUSP00000062392
Gene: ENSMUSG00000050965
AA Change: W58*

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 probably benign
Transcript: ENSMUST00000133383
SMART Domains Protein: ENSMUSP00000115516
Gene: ENSMUSG00000000049

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Sushi 23 51 6.7e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134725
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,233,925 D326G possibly damaging Het
Ago4 C T 4: 126,512,519 probably null Het
Ank A G 15: 27,467,001 probably benign Het
Ankmy2 C A 12: 36,193,774 S329R possibly damaging Het
Aox1 A G 1: 58,068,391 E608G probably damaging Het
Btbd11 A G 10: 85,631,343 I721V probably benign Het
Car1 G A 3: 14,777,822 L48F probably benign Het
Cct8 A G 16: 87,486,230 probably benign Het
Clasp1 A T 1: 118,462,547 T154S probably damaging Het
Clca4a A C 3: 144,963,769 I340M possibly damaging Het
Cnksr3 C T 10: 7,138,354 probably null Het
Cntrob T C 11: 69,319,373 T265A possibly damaging Het
Ddx5 T C 11: 106,781,885 I605V probably benign Het
Eif3i A G 4: 129,595,312 Y70H probably damaging Het
Epb41l5 T C 1: 119,579,081 probably benign Het
Fah A T 7: 84,601,079 S90T probably benign Het
Fat2 T A 11: 55,270,194 M3237L probably benign Het
Fbxw8 A G 5: 118,077,695 Y417H probably benign Het
Fmnl2 C A 2: 53,101,482 F336L probably benign Het
Gli3 A G 13: 15,724,568 R847G probably damaging Het
Gm17509 T C 13: 117,220,772 probably benign Het
Gm4846 T A 1: 166,483,880 Y470F possibly damaging Het
Gm7461 T C 8: 4,677,847 noncoding transcript Het
Gpatch4 A T 3: 88,054,436 N134I possibly damaging Het
Grina A G 15: 76,248,985 Y251C probably damaging Het
Gsn A G 2: 35,304,654 D654G probably benign Het
Hyal5 A G 6: 24,891,452 T422A probably benign Het
Iars T A 13: 49,704,849 I377N probably damaging Het
Ints3 A T 3: 90,401,837 probably benign Het
Kdm4b G A 17: 56,375,996 probably null Het
Kyat1 A G 2: 30,186,675 S276P probably damaging Het
Lrrc1 A G 9: 77,452,647 C288R probably damaging Het
Mst1r T A 9: 107,913,180 M664K probably benign Het
Neb A T 2: 52,298,867 I817N probably damaging Het
Nudt6 C A 3: 37,419,518 G18V probably damaging Het
Olfr1302 T A 2: 111,780,921 Y200* probably null Het
Olfr517 G A 7: 108,868,855 Q100* probably null Het
Olfr57 T C 10: 79,035,033 V79A possibly damaging Het
Pde1c A G 6: 56,158,936 I341T probably damaging Het
Pgm5 T C 19: 24,834,848 I107V probably benign Het
Pot1b G A 17: 55,662,454 probably benign Het
Slc12a9 T C 5: 137,322,443 K555R probably damaging Het
Smoc2 A T 17: 14,336,610 Q107L probably damaging Het
Sytl1 T A 4: 133,261,032 R4S probably benign Het
Tbc1d4 A G 14: 101,458,113 L963P probably damaging Het
Tfdp2 G A 9: 96,317,936 probably benign Het
Tmem63a A T 1: 180,961,075 M326L probably benign Het
Vmn2r66 A G 7: 85,006,974 L278P probably damaging Het
Wtap A G 17: 12,983,511 V11A possibly damaging Het
Zcchc9 A T 13: 91,806,053 S28T possibly damaging Het
Zfp12 C T 5: 143,244,059 probably benign Het
Other mutations in Prkca
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Prkca APN 11 108343508 missense probably benign 0.10
IGL00903:Prkca APN 11 107983974 missense probably damaging 1.00
IGL01385:Prkca APN 11 107978352 missense probably damaging 1.00
IGL01396:Prkca APN 11 108014322 missense possibly damaging 0.59
IGL01480:Prkca APN 11 108192201 missense probably damaging 1.00
IGL01480:Prkca APN 11 107986289 missense possibly damaging 0.93
IGL01516:Prkca APN 11 107961602 missense probably null 1.00
IGL01553:Prkca APN 11 108057834 missense probably benign 0.15
IGL03402:Prkca APN 11 108340663 missense probably benign 0.20
R0101:Prkca UTSW 11 108057800 missense probably damaging 1.00
R0279:Prkca UTSW 11 108054111 splice site probably benign
R0454:Prkca UTSW 11 107978280 missense probably benign
R0513:Prkca UTSW 11 108014376 missense possibly damaging 0.82
R0711:Prkca UTSW 11 107981654 missense probably benign 0.16
R0894:Prkca UTSW 11 108012692 missense possibly damaging 0.66
R0966:Prkca UTSW 11 108014284 missense possibly damaging 0.56
R1432:Prkca UTSW 11 107939520 missense probably benign 0.27
R1518:Prkca UTSW 11 107978316 missense probably damaging 1.00
R1667:Prkca UTSW 11 107983946 missense probably damaging 1.00
R1795:Prkca UTSW 11 108012692 missense possibly damaging 0.66
R1909:Prkca UTSW 11 107939612 missense possibly damaging 0.68
R1932:Prkca UTSW 11 108192149 missense probably benign 0.13
R2509:Prkca UTSW 11 107979206 missense probably damaging 1.00
R3889:Prkca UTSW 11 107979240 missense probably damaging 1.00
R4018:Prkca UTSW 11 107939602 missense probably damaging 1.00
R4684:Prkca UTSW 11 107961608 missense probably damaging 0.99
R5132:Prkca UTSW 11 108192117 splice site probably benign
R5298:Prkca UTSW 11 108012684 missense probably damaging 0.98
R5546:Prkca UTSW 11 108053980 missense probably benign 0.14
R5558:Prkca UTSW 11 107981647 missense probably damaging 1.00
R5616:Prkca UTSW 11 107978343 missense possibly damaging 0.85
R5626:Prkca UTSW 11 108057815 missense possibly damaging 0.94
R5931:Prkca UTSW 11 108014310 missense probably benign 0.01
R6061:Prkca UTSW 11 108057845 missense probably benign 0.03
R7125:Prkca UTSW 11 107984022 missense probably damaging 1.00
R7283:Prkca UTSW 11 108340645 critical splice donor site probably null
R7329:Prkca UTSW 11 108014277 missense possibly damaging 0.73
R7510:Prkca UTSW 11 107983994 missense possibly damaging 0.89
Posted On2016-08-02