Incidental Mutation 'R6612:Ppp1r36'
ID 523702
Institutional Source Beutler Lab
Gene Symbol Ppp1r36
Ensembl Gene ENSMUSG00000052221
Gene Name protein phosphatase 1, regulatory subunit 36
Synonyms
MMRRC Submission 044735-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6612 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 76464312-76486266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76484378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 216 (I216T)
Ref Sequence ENSEMBL: ENSMUSP00000069849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063977]
AlphaFold D3Z0R2
Predicted Effect possibly damaging
Transcript: ENSMUST00000063977
AA Change: I216T

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000069849
Gene: ENSMUSG00000052221
AA Change: I216T

DomainStartEndE-ValueType
Pfam:PPPI_inhib 52 402 5.7e-109 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218732
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219251
Meta Mutation Damage Score 0.1612 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.4%
Validation Efficiency 95% (59/62)
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik A C 1: 159,902,804 (GRCm39) N25H probably damaging Het
Akr1c14 A T 13: 4,115,331 (GRCm39) S87C probably benign Het
Arhgef37 T C 18: 61,627,952 (GRCm39) T664A probably benign Het
Arsi A G 18: 61,045,528 (GRCm39) T73A probably benign Het
Cacnb2 A T 2: 14,979,960 (GRCm39) T274S probably benign Het
Cd244a A G 1: 171,401,672 (GRCm39) T133A probably benign Het
Cep20 TTGTG TTG 16: 14,118,009 (GRCm39) probably null Het
Ciz1 T A 2: 32,267,323 (GRCm39) S720T possibly damaging Het
Cxcr6 T A 9: 123,639,785 (GRCm39) I262N probably damaging Het
Cyp2a4 T A 7: 26,008,072 (GRCm39) F160I probably benign Het
Esrra T C 19: 6,889,220 (GRCm39) T390A probably benign Het
Gm17079 T A 14: 51,931,833 (GRCm39) Q91L possibly damaging Het
Gm17079 C A 14: 51,931,832 (GRCm39) Q91H probably damaging Het
Got1 A G 19: 43,493,242 (GRCm39) S256P probably damaging Het
Gria4 C T 9: 4,472,206 (GRCm39) V428I possibly damaging Het
Grin2b A G 6: 135,717,996 (GRCm39) Y699H probably damaging Het
Hipk2 T C 6: 38,795,808 (GRCm39) I154V probably benign Het
Hkdc1 T C 10: 62,231,220 (GRCm39) E628G possibly damaging Het
Hmcn1 C G 1: 150,470,869 (GRCm39) probably null Het
Hspbap1 T G 16: 35,621,961 (GRCm39) L102W probably damaging Het
Iqcb1 G A 16: 36,692,023 (GRCm39) probably benign Het
Itga7 A G 10: 128,784,862 (GRCm39) Y763C possibly damaging Het
Itgb4 A T 11: 115,874,897 (GRCm39) D418V probably benign Het
Jakmip2 T C 18: 43,690,432 (GRCm39) D631G probably damaging Het
Kcnc2 G C 10: 112,107,761 (GRCm39) G51R probably benign Het
Kcnu1 A G 8: 26,408,344 (GRCm39) I52V probably benign Het
Kdm5a T C 6: 120,407,189 (GRCm39) I1468T probably damaging Het
Kmt2d A G 15: 98,743,739 (GRCm39) probably benign Het
Mab21l3 A G 3: 101,725,961 (GRCm39) V345A possibly damaging Het
Marchf10 A T 11: 105,287,904 (GRCm39) S133T probably damaging Het
Mccc1 T C 3: 36,048,079 (GRCm39) S115G probably benign Het
Mchr1 G A 15: 81,122,071 (GRCm39) V274M probably damaging Het
Mrgpra3 T A 7: 47,239,783 (GRCm39) I48F probably benign Het
Myo9a T A 9: 59,734,479 (GRCm39) F687Y probably damaging Het
Nfrkb T A 9: 31,308,302 (GRCm39) L216* probably null Het
Nrxn3 A T 12: 89,780,102 (GRCm39) probably benign Het
Olig2 T A 16: 91,023,769 (GRCm39) M161K probably damaging Het
Or11h7 A T 14: 50,891,090 (GRCm39) Y132F probably damaging Het
Pcdh15 T A 10: 74,021,210 (GRCm39) N141K probably damaging Het
Pcdha4 T C 18: 37,088,031 (GRCm39) V738A probably benign Het
Pdgfra T C 5: 75,328,503 (GRCm39) S212P probably benign Het
Plk3 G A 4: 116,989,934 (GRCm39) Q194* probably null Het
Ptprz1 T A 6: 23,052,081 (GRCm39) N2303K probably damaging Het
Rab25 G A 3: 88,450,710 (GRCm39) T117M probably damaging Het
Relch T A 1: 105,619,732 (GRCm39) D320E possibly damaging Het
Slc25a47 T C 12: 108,821,904 (GRCm39) V231A probably benign Het
Slx4 G A 16: 3,803,140 (GRCm39) H1225Y probably damaging Het
Snx13 C T 12: 35,156,758 (GRCm39) A470V probably benign Het
Spa17 A G 9: 37,517,090 (GRCm39) F101S probably benign Het
Ssh1 C T 5: 114,096,791 (GRCm39) A217T probably benign Het
Stimate T A 14: 30,593,521 (GRCm39) probably null Het
Synm G C 7: 67,383,264 (GRCm39) T1466S probably damaging Het
Tbc1d19 A G 5: 53,967,187 (GRCm39) E29G possibly damaging Het
Teddm2 T A 1: 153,726,191 (GRCm39) T175S probably benign Het
Tet2 T A 3: 133,193,096 (GRCm39) H446L possibly damaging Het
Tpm3-rs7 G T 14: 113,552,268 (GRCm39) R54L probably benign Het
Ttc5 T A 14: 51,022,926 (GRCm39) probably null Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Ush2a T C 1: 188,643,594 (GRCm39) S4319P possibly damaging Het
Zbtb10 C A 3: 9,317,125 (GRCm39) H312Q possibly damaging Het
Zfp462 A T 4: 55,012,324 (GRCm39) probably null 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
IGL03295:Ppp1r36 APN 12 76,485,192 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- GACCCACTTCCTCTAACTGAGC -3'
(R):5'- ACACGTGTCTTCACATTTGTG -3'

Sequencing Primer
(F):5'- TCTAACTGAGCCTCGCCAC -3'
(R):5'- CTTCACATTTGTGGGGAGAAAGTCAG -3'
Posted On 2018-06-22