Incidental Mutation 'IGL00975:Ppp1r26'
ID 27014
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r26
Ensembl Gene ENSMUSG00000035829
Gene Name protein phosphatase 1, regulatory subunit 26
Synonyms LOC241289
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00975
Quality Score
Status
Chromosome 2
Chromosomal Location 28336812-28345520 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28343730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1120 (L1120Q)
Ref Sequence ENSEMBL: ENSMUSP00000139546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040324] [ENSMUST00000189694]
AlphaFold Q6A025
Predicted Effect probably damaging
Transcript: ENSMUST00000040324
AA Change: L1120Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042173
Gene: ENSMUSG00000035829
AA Change: L1120Q

DomainStartEndE-ValueType
Pfam:PPP1R26_N 1 812 N/A PFAM
low complexity region 901 913 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128199
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154081
Predicted Effect probably damaging
Transcript: ENSMUST00000189694
AA Change: L1120Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139546
Gene: ENSMUSG00000035829
AA Change: L1120Q

DomainStartEndE-ValueType
low complexity region 122 132 N/A INTRINSIC
low complexity region 487 504 N/A INTRINSIC
low complexity region 515 536 N/A INTRINSIC
low complexity region 551 559 N/A INTRINSIC
low complexity region 636 654 N/A INTRINSIC
low complexity region 766 780 N/A INTRINSIC
low complexity region 901 913 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn10 A T 15: 85,220,666 (GRCm39) M1L probably benign Het
Atxn7l3 A G 11: 102,185,807 (GRCm39) S3P probably benign Het
Cep112 A G 11: 108,325,012 (GRCm39) D70G probably damaging Het
Col20a1 G A 2: 180,634,271 (GRCm39) A79T probably damaging Het
Cycs T A 6: 50,542,347 (GRCm39) D63V probably benign Het
Dis3 A G 14: 99,316,670 (GRCm39) V855A probably damaging Het
Dnah6 T A 6: 73,150,373 (GRCm39) I797F possibly damaging Het
Dpagt1 T C 9: 44,243,949 (GRCm39) probably null Het
Dst T C 1: 34,227,393 (GRCm39) I1840T possibly damaging Het
Epb41l3 C T 17: 69,514,856 (GRCm39) probably benign Het
Fam20c C T 5: 138,794,912 (GRCm39) H514Y probably benign Het
Fgd6 A T 10: 93,969,938 (GRCm39) M1196L probably damaging Het
Fmo3 T C 1: 162,791,599 (GRCm39) D226G probably benign Het
Fsd1l T C 4: 53,682,187 (GRCm39) L263P probably damaging Het
Gaa C A 11: 119,165,509 (GRCm39) T333K possibly damaging Het
Gm10530 T C 1: 159,512,444 (GRCm39) probably benign Het
Gm5458 A G 14: 19,649,735 (GRCm39) L163P Het
Inpp5j T C 11: 3,452,176 (GRCm39) N358S probably damaging Het
Ms4a8a A G 19: 11,048,151 (GRCm39) L193P probably damaging Het
Neb T C 2: 52,102,740 (GRCm39) K4511R probably benign Het
Odad1 A T 7: 45,592,080 (GRCm39) K320I probably damaging Het
Or5an10 A G 19: 12,276,149 (GRCm39) S116P probably damaging Het
Pcca A G 14: 123,114,312 (GRCm39) D82G probably damaging Het
Pou2f3 T C 9: 43,048,679 (GRCm39) T266A probably benign Het
Pudp T G 18: 50,701,349 (GRCm39) K128T probably damaging Het
Rcn1 T C 2: 105,225,174 (GRCm39) T94A possibly damaging Het
Six5 T C 7: 18,831,603 (GRCm39) L698P probably damaging Het
Slc13a4 T A 6: 35,251,910 (GRCm39) M461L probably benign Het
Slc30a9 T C 5: 67,507,169 (GRCm39) V487A probably damaging Het
Tbx21 T C 11: 96,990,908 (GRCm39) I257V possibly damaging Het
Tg A G 15: 66,553,731 (GRCm39) D382G probably benign Het
Trim34b C A 7: 103,978,859 (GRCm39) C35* probably null Het
Usp47 A G 7: 111,692,577 (GRCm39) D1013G probably damaging Het
Other mutations in Ppp1r26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01092:Ppp1r26 APN 2 28,343,872 (GRCm39) utr 3 prime probably benign
IGL02061:Ppp1r26 APN 2 28,340,639 (GRCm39) missense possibly damaging 0.68
IGL02399:Ppp1r26 APN 2 28,343,292 (GRCm39) missense probably benign
R0518:Ppp1r26 UTSW 2 28,342,314 (GRCm39) missense probably damaging 1.00
R0763:Ppp1r26 UTSW 2 28,340,379 (GRCm39) missense probably damaging 1.00
R1082:Ppp1r26 UTSW 2 28,342,146 (GRCm39) missense probably damaging 1.00
R1477:Ppp1r26 UTSW 2 28,342,800 (GRCm39) missense probably benign 0.00
R1512:Ppp1r26 UTSW 2 28,341,528 (GRCm39) missense probably benign 0.01
R2157:Ppp1r26 UTSW 2 28,342,370 (GRCm39) missense probably benign 0.00
R2228:Ppp1r26 UTSW 2 28,343,798 (GRCm39) missense possibly damaging 0.91
R2275:Ppp1r26 UTSW 2 28,342,713 (GRCm39) missense possibly damaging 0.86
R3015:Ppp1r26 UTSW 2 28,342,314 (GRCm39) missense probably damaging 1.00
R4402:Ppp1r26 UTSW 2 28,341,618 (GRCm39) missense probably benign 0.00
R4614:Ppp1r26 UTSW 2 28,340,860 (GRCm39) missense probably benign 0.04
R5521:Ppp1r26 UTSW 2 28,341,438 (GRCm39) missense probably benign 0.27
R5873:Ppp1r26 UTSW 2 28,341,617 (GRCm39) missense probably benign 0.10
R5988:Ppp1r26 UTSW 2 28,342,566 (GRCm39) missense probably benign 0.01
R6060:Ppp1r26 UTSW 2 28,341,042 (GRCm39) missense probably benign 0.00
R7007:Ppp1r26 UTSW 2 28,341,171 (GRCm39) missense probably damaging 0.99
R7501:Ppp1r26 UTSW 2 28,340,749 (GRCm39) missense probably damaging 1.00
R8812:Ppp1r26 UTSW 2 28,341,192 (GRCm39) missense probably benign 0.00
R8986:Ppp1r26 UTSW 2 28,342,802 (GRCm39) nonsense probably null
R9213:Ppp1r26 UTSW 2 28,343,649 (GRCm39) missense probably benign 0.04
Z1176:Ppp1r26 UTSW 2 28,342,859 (GRCm39) missense probably damaging 1.00
Z1177:Ppp1r26 UTSW 2 28,343,492 (GRCm39) missense probably damaging 0.98
Z1177:Ppp1r26 UTSW 2 28,342,880 (GRCm39) missense probably benign 0.45
Z1177:Ppp1r26 UTSW 2 28,340,904 (GRCm39) missense probably benign 0.17
Posted On 2013-04-17