Incidental Mutation 'R2999:Ppp1cc'
ID 257229
Institutional Source Beutler Lab
Gene Symbol Ppp1cc
Ensembl Gene ENSMUSG00000004455
Gene Name protein phosphatase 1 catalytic subunit gamma
Synonyms PP1, PP1C gamma, PP1C gamma 2, PP1C gamma 1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2999 (G1)
Quality Score 214
Status Not validated
Chromosome 5
Chromosomal Location 122296341-122313336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122312151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 306 (A306T)
Ref Sequence ENSEMBL: ENSMUSP00000099587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086294] [ENSMUST00000102528] [ENSMUST00000128309] [ENSMUST00000132555]
AlphaFold P63087
Predicted Effect probably benign
Transcript: ENSMUST00000086294
AA Change: A306T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083474
Gene: ENSMUSG00000004455
AA Change: A306T

DomainStartEndE-ValueType
PP2Ac 30 300 6.44e-164 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102528
AA Change: A306T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099587
Gene: ENSMUSG00000004455
AA Change: A306T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142562
Predicted Effect probably benign
Transcript: ENSMUST00000151184
Meta Mutation Damage Score 0.0878 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1a T C 8: 85,294,371 (GRCm39) L1178P probably damaging Het
Ccdc162 T C 10: 41,456,286 (GRCm39) M1619V probably benign Het
Diaph3 C T 14: 87,009,530 (GRCm39) C1083Y probably damaging Het
Dyrk3 A T 1: 131,057,183 (GRCm39) I330N probably damaging Het
Fmn1 A G 2: 113,195,439 (GRCm39) T380A unknown Het
Inhbe T C 10: 127,187,243 (GRCm39) T58A possibly damaging Het
Lama2 C T 10: 26,865,417 (GRCm39) A2914T probably benign Het
Marf1 T A 16: 13,960,505 (GRCm39) Y513F possibly damaging Het
Nolc1 GAGCAGCAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,071,594 (GRCm39) probably benign Het
Sf1 C T 19: 6,424,906 (GRCm39) probably benign Het
Tmem121b T C 6: 120,469,943 (GRCm39) N258S possibly damaging Het
Tmem260 T A 14: 48,722,446 (GRCm39) L327Q possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Zcchc2 A G 1: 105,957,754 (GRCm39) M742V probably benign Het
Other mutations in Ppp1cc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02747:Ppp1cc APN 5 122,312,136 (GRCm39) missense probably benign 0.02
R0524:Ppp1cc UTSW 5 122,310,833 (GRCm39) nonsense probably null
R1223:Ppp1cc UTSW 5 122,306,277 (GRCm39) missense probably damaging 1.00
R2926:Ppp1cc UTSW 5 122,312,151 (GRCm39) missense probably benign
R4133:Ppp1cc UTSW 5 122,306,289 (GRCm39) missense probably benign 0.08
R8031:Ppp1cc UTSW 5 122,312,151 (GRCm39) missense probably benign
R9063:Ppp1cc UTSW 5 122,306,279 (GRCm39) missense probably benign
Z1088:Ppp1cc UTSW 5 122,310,816 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- CTCCACCAAAATGCTCAGGG -3'
(R):5'- TATAACCAGCAAGTGCCAGC -3'

Sequencing Primer
(F):5'- AATGCTCAGGGACCAGTCG -3'
(R):5'- AGCAAGTGCCAGCAGTAATC -3'
Posted On 2015-01-11