Incidental Mutation 'IGL03295:Ppp1r36'
ID 416062
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r36
Ensembl Gene ENSMUSG00000052221
Gene Name protein phosphatase 1, regulatory subunit 36
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL03295
Quality Score
Status
Chromosome 12
Chromosomal Location 76464312-76486266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76485192 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 305 (P305L)
Ref Sequence ENSEMBL: ENSMUSP00000069849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063977]
AlphaFold D3Z0R2
Predicted Effect probably damaging
Transcript: ENSMUST00000063977
AA Change: P305L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000069849
Gene: ENSMUSG00000052221
AA Change: P305L

DomainStartEndE-ValueType
Pfam:PPPI_inhib 52 402 5.7e-109 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218732
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219251
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,390,915 (GRCm39) probably benign Het
Adamts5 T C 16: 85,674,833 (GRCm39) T444A probably damaging Het
Aldh18a1 T C 19: 40,551,386 (GRCm39) E522G probably damaging Het
Bbx T C 16: 50,044,927 (GRCm39) T437A probably damaging Het
Bsx A G 9: 40,785,743 (GRCm39) probably benign Het
Cdc42bpa A G 1: 179,977,769 (GRCm39) N729S probably benign Het
Cdk1 G T 10: 69,178,373 (GRCm39) H162Q possibly damaging Het
Chrac1 A G 15: 72,965,445 (GRCm39) probably benign Het
Cip2a T C 16: 48,814,704 (GRCm39) S22P probably damaging Het
Ddx60 A T 8: 62,409,155 (GRCm39) D397V possibly damaging Het
Edn2 T A 4: 120,019,178 (GRCm39) C56S probably damaging Het
Gm4952 T C 19: 12,595,691 (GRCm39) V27A probably benign Het
Herc1 T A 9: 66,303,985 (GRCm39) S763T possibly damaging Het
Hspd1 G A 1: 55,119,334 (GRCm39) T381I probably benign Het
Krt1c T A 15: 101,724,864 (GRCm39) I249F probably damaging Het
Lman2l T C 1: 36,477,892 (GRCm39) D148G probably damaging Het
Lrp1b C T 2: 40,568,999 (GRCm39) probably null Het
Mier3 C A 13: 111,840,215 (GRCm39) T51K probably benign Het
Pramel27 G A 4: 143,579,759 (GRCm39) C448Y probably damaging Het
Prdm1 T C 10: 44,315,866 (GRCm39) I790V probably damaging Het
Sephs2 T C 7: 126,871,941 (GRCm39) E384G possibly damaging Het
Sipa1l1 T A 12: 82,479,714 (GRCm39) W1466R probably damaging Het
Snai2 T C 16: 14,524,638 (GRCm39) L48P possibly damaging Het
Stt3a A G 9: 36,674,627 (GRCm39) probably null Het
Synj1 T A 16: 90,735,318 (GRCm39) N1545I probably benign Het
Vav2 A T 2: 27,165,041 (GRCm39) S607T possibly damaging Het
Wdr27 T C 17: 15,154,837 (GRCm39) K27E possibly damaging Het
Xcl1 A T 1: 164,763,004 (GRCm39) V19E unknown Het
Xlr3c A T X: 72,301,240 (GRCm39) probably null Het
Zbtb44 T A 9: 30,964,753 (GRCm39) D54E probably benign Het
Zscan21 A G 5: 138,123,540 (GRCm39) D73G possibly damaging Het
Other mutations in Ppp1r36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01585:Ppp1r36 APN 12 76,485,891 (GRCm39) critical splice acceptor site probably null
IGL01744:Ppp1r36 APN 12 76,486,006 (GRCm39) missense possibly damaging 0.83
R0099:Ppp1r36 UTSW 12 76,483,056 (GRCm39) splice site probably null
R0332:Ppp1r36 UTSW 12 76,474,677 (GRCm39) missense probably benign 0.32
R0463:Ppp1r36 UTSW 12 76,465,741 (GRCm39) missense probably damaging 0.98
R0491:Ppp1r36 UTSW 12 76,486,065 (GRCm39) missense probably benign 0.01
R1664:Ppp1r36 UTSW 12 76,483,028 (GRCm39) missense possibly damaging 0.84
R2011:Ppp1r36 UTSW 12 76,465,700 (GRCm39) critical splice acceptor site probably null
R3918:Ppp1r36 UTSW 12 76,464,431 (GRCm39) missense probably benign 0.00
R5352:Ppp1r36 UTSW 12 76,474,857 (GRCm39) missense probably damaging 1.00
R5464:Ppp1r36 UTSW 12 76,474,852 (GRCm39) critical splice acceptor site probably null
R5490:Ppp1r36 UTSW 12 76,484,761 (GRCm39) missense possibly damaging 0.85
R5490:Ppp1r36 UTSW 12 76,484,760 (GRCm39) missense probably damaging 0.98
R5523:Ppp1r36 UTSW 12 76,484,892 (GRCm39) missense possibly damaging 0.71
R5844:Ppp1r36 UTSW 12 76,473,566 (GRCm39) missense possibly damaging 0.71
R5849:Ppp1r36 UTSW 12 76,485,931 (GRCm39) missense probably damaging 0.99
R5866:Ppp1r36 UTSW 12 76,473,579 (GRCm39) missense possibly damaging 0.71
R5996:Ppp1r36 UTSW 12 76,485,936 (GRCm39) missense possibly damaging 0.71
R6443:Ppp1r36 UTSW 12 76,464,413 (GRCm39) missense probably benign
R6612:Ppp1r36 UTSW 12 76,484,378 (GRCm39) missense possibly damaging 0.52
R6756:Ppp1r36 UTSW 12 76,474,696 (GRCm39) missense probably benign 0.28
R7896:Ppp1r36 UTSW 12 76,474,923 (GRCm39) splice site probably null
R7938:Ppp1r36 UTSW 12 76,485,180 (GRCm39) missense probably damaging 0.99
R8377:Ppp1r36 UTSW 12 76,485,215 (GRCm39) missense possibly damaging 0.86
R8468:Ppp1r36 UTSW 12 76,482,979 (GRCm39) missense probably damaging 0.98
R8784:Ppp1r36 UTSW 12 76,485,967 (GRCm39) missense probably benign 0.00
R9567:Ppp1r36 UTSW 12 76,485,900 (GRCm39) missense probably benign 0.06
R9720:Ppp1r36 UTSW 12 76,485,298 (GRCm39) missense possibly damaging 0.87
X0025:Ppp1r36 UTSW 12 76,473,584 (GRCm39) nonsense probably null
Posted On 2016-08-02