Incidental Mutation 'IGL02747:Ppp1cc'
ID306084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1cc
Ensembl Gene ENSMUSG00000004455
Gene Nameprotein phosphatase 1, catalytic subunit, gamma isoform
SynonymsPP1C gamma, PP1C gamma 2, PP1C gamma 1, PP1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02747
Quality Score
Status
Chromosome5
Chromosomal Location122158278-122175273 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 122174073 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 301 (K301E)
Ref Sequence ENSEMBL: ENSMUSP00000099587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086294] [ENSMUST00000102528] [ENSMUST00000128309] [ENSMUST00000132555]
Predicted Effect probably benign
Transcript: ENSMUST00000086294
AA Change: K301E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000083474
Gene: ENSMUSG00000004455
AA Change: K301E

DomainStartEndE-ValueType
PP2Ac 30 300 6.44e-164 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102528
AA Change: K301E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099587
Gene: ENSMUSG00000004455
AA Change: K301E

DomainStartEndE-ValueType
PP2Ac 30 300 6.44e-164 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128309
SMART Domains Protein: ENSMUSP00000142415
Gene: ENSMUSG00000004455

DomainStartEndE-ValueType
PP2Ac 30 272 1.5e-116 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132555
SMART Domains Protein: ENSMUSP00000143509
Gene: ENSMUSG00000004455

DomainStartEndE-ValueType
PP2Ac 30 272 1.5e-116 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133568
Predicted Effect probably benign
Transcript: ENSMUST00000134719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142562
Predicted Effect probably benign
Transcript: ENSMUST00000151184
Predicted Effect probably benign
Transcript: ENSMUST00000197730
AA Change: K255E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit male infertility due to severely impaired spermiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,373,282 L3373* probably null Het
Ap1s3 T C 1: 79,623,692 Y94C probably damaging Het
BC048403 A C 10: 121,745,550 Q152P possibly damaging Het
Dbx2 T C 15: 95,632,439 T216A probably benign Het
Dsg4 A G 18: 20,446,938 R67G probably damaging Het
Eng G A 2: 32,672,958 probably null Het
Gm28042 T A 2: 120,031,394 I206N probably damaging Het
Gsdmc4 C T 15: 63,893,871 M276I probably benign Het
Itih2 A G 2: 10,097,945 S793P probably benign Het
Kcnj13 T C 1: 87,389,365 N9D probably benign Het
Krt78 T A 15: 101,950,384 probably benign Het
Megf10 A G 18: 57,290,493 K985E probably benign Het
Naa25 A G 5: 121,414,605 probably benign Het
Olfr918 T C 9: 38,673,084 Y133C probably benign Het
Plekhm2 T C 4: 141,634,272 T307A possibly damaging Het
Ralgds T C 2: 28,548,110 probably benign Het
Rccd1 A T 7: 80,320,490 D126E probably benign Het
Reps1 T C 10: 18,123,600 S712P probably damaging Het
Rnf103 T A 6: 71,509,177 I264N probably damaging Het
Rpap1 A G 2: 119,774,128 I433T probably damaging Het
Ryr2 T G 13: 11,655,677 N3478H probably damaging Het
Sox30 A G 11: 45,980,945 D209G probably benign Het
Sox6 A G 7: 115,489,746 F628S probably damaging Het
Tas1r3 C T 4: 155,860,460 G768D possibly damaging Het
Tesk2 T C 4: 116,802,879 V398A probably benign Het
Tmem135 A T 7: 89,144,670 I388N probably damaging Het
Tpgs2 A G 18: 25,139,145 probably benign Het
Vmn2r120 G A 17: 57,524,719 H357Y probably benign Het
Other mutations in Ppp1cc
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0524:Ppp1cc UTSW 5 122172770 nonsense probably null
R1223:Ppp1cc UTSW 5 122168214 missense probably damaging 1.00
R2926:Ppp1cc UTSW 5 122174088 missense probably benign
R2999:Ppp1cc UTSW 5 122174088 missense probably benign
R4133:Ppp1cc UTSW 5 122168226 missense probably benign 0.08
R8031:Ppp1cc UTSW 5 122174088 missense probably benign
Z1088:Ppp1cc UTSW 5 122172753 missense possibly damaging 0.91
Posted On2015-04-16