Incidental Mutation 'R5490:Ppp1r36'
ID 432052
Institutional Source Beutler Lab
Gene Symbol Ppp1r36
Ensembl Gene ENSMUSG00000052221
Gene Name protein phosphatase 1, regulatory subunit 36
Synonyms
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5490 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 76464312-76486266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 76484761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 238 (W238L)
Ref Sequence ENSEMBL: ENSMUSP00000069849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063977]
AlphaFold D3Z0R2
Predicted Effect possibly damaging
Transcript: ENSMUST00000063977
AA Change: W238L

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069849
Gene: ENSMUSG00000052221
AA Change: W238L

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
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably 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
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 76,484,760 (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
Predicted Primers PCR Primer
(F):5'- CGTGTAACTCTGTGCAGCTTCC -3'
(R):5'- TTCTTGAGTGGAGGAAAGGCC -3'

Sequencing Primer
(F):5'- TGCAGCTTCCGGGGACATG -3'
(R):5'- CGTCATGCAGACTGTAATGC -3'
Posted On 2016-10-05