Incidental Mutation 'IGL02061:Ppp1r26'
ID 185408
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
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02061
Quality Score
Status
Chromosome 2
Chromosomal Location 28446800-28455508 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 28450627 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 90 (C90S)
Ref Sequence ENSEMBL: ENSMUSP00000139546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040324] [ENSMUST00000189694]
AlphaFold Q6A025
Predicted Effect possibly damaging
Transcript: ENSMUST00000040324
AA Change: C90S

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000042173
Gene: ENSMUSG00000035829
AA Change: C90S

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 possibly damaging
Transcript: ENSMUST00000189694
AA Change: C90S

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139546
Gene: ENSMUSG00000035829
AA Change: C90S

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 T A 13: 113,794,657 D3E probably benign Het
Atp4a A G 7: 30,715,029 Y159C probably damaging Het
Card10 A G 15: 78,778,215 F861S probably damaging Het
Ccdc85c A G 12: 108,221,743 V279A probably damaging Het
Cndp1 G A 18: 84,634,626 R136W probably damaging Het
Eif2b3 A G 4: 117,028,411 E50G possibly damaging Het
Eva1c C T 16: 90,866,275 Q67* probably null Het
Exoc1 A G 5: 76,542,120 E169G probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fsd2 T A 7: 81,540,424 K537* probably null Het
Gbf1 T G 19: 46,279,258 S1236A possibly damaging Het
Gpt C A 15: 76,699,417 probably benign Het
Gsap A G 5: 21,281,611 probably benign Het
Hdac6 A C X: 7,943,639 probably null Het
Ivns1abp T A 1: 151,351,573 L44Q probably damaging Het
Kcnt1 T A 2: 25,900,482 probably null Het
Kdm2b A G 5: 122,883,341 I58T probably damaging Het
Mrpl23 C T 7: 142,540,582 P76S probably benign Het
Nbea A G 3: 55,717,887 I2261T possibly damaging Het
Oasl1 G A 5: 114,923,592 V61M probably damaging Het
Olfr1288 T A 2: 111,479,269 F162I possibly damaging Het
Pabpc2 A G 18: 39,774,993 Q437R probably benign Het
Ppp3ca A G 3: 136,797,863 T66A probably benign Het
Prss55 A G 14: 64,075,743 Y231H possibly damaging Het
Psmb10 T C 8: 105,937,711 T38A probably damaging Het
Rfx5 A G 3: 94,958,481 T364A probably benign Het
Scgb2b26 T C 7: 33,943,185 N107S probably benign Het
Seh1l A G 18: 67,787,258 probably benign Het
Sod1 T A 16: 90,225,238 H111Q probably benign Het
Thbs2 A T 17: 14,679,914 D592E probably benign Het
Tmem67 G A 4: 12,053,526 A740V probably damaging Het
Tra2a A G 6: 49,249,098 V136A possibly damaging Het
Ttc37 T A 13: 76,129,541 probably null Het
Utp18 T C 11: 93,882,141 D158G probably benign Het
Zfp524 A G 7: 5,017,872 E133G probably damaging Het
Other mutations in Ppp1r26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Ppp1r26 APN 2 28453718 missense probably damaging 1.00
IGL01092:Ppp1r26 APN 2 28453860 utr 3 prime probably benign
IGL02399:Ppp1r26 APN 2 28453280 missense probably benign
R0518:Ppp1r26 UTSW 2 28452302 missense probably damaging 1.00
R0763:Ppp1r26 UTSW 2 28450367 missense probably damaging 1.00
R1082:Ppp1r26 UTSW 2 28452134 missense probably damaging 1.00
R1477:Ppp1r26 UTSW 2 28452788 missense probably benign 0.00
R1512:Ppp1r26 UTSW 2 28451516 missense probably benign 0.01
R2157:Ppp1r26 UTSW 2 28452358 missense probably benign 0.00
R2228:Ppp1r26 UTSW 2 28453786 missense possibly damaging 0.91
R2275:Ppp1r26 UTSW 2 28452701 missense possibly damaging 0.86
R3015:Ppp1r26 UTSW 2 28452302 missense probably damaging 1.00
R4402:Ppp1r26 UTSW 2 28451606 missense probably benign 0.00
R4614:Ppp1r26 UTSW 2 28450848 missense probably benign 0.04
R5521:Ppp1r26 UTSW 2 28451426 missense probably benign 0.27
R5873:Ppp1r26 UTSW 2 28451605 missense probably benign 0.10
R5988:Ppp1r26 UTSW 2 28452554 missense probably benign 0.01
R6060:Ppp1r26 UTSW 2 28451030 missense probably benign 0.00
R7007:Ppp1r26 UTSW 2 28451159 missense probably damaging 0.99
R7501:Ppp1r26 UTSW 2 28450737 missense probably damaging 1.00
R8812:Ppp1r26 UTSW 2 28451180 missense probably benign 0.00
R8986:Ppp1r26 UTSW 2 28452790 nonsense probably null
R9213:Ppp1r26 UTSW 2 28453637 missense probably benign 0.04
Z1176:Ppp1r26 UTSW 2 28452847 missense probably damaging 1.00
Z1177:Ppp1r26 UTSW 2 28450892 missense probably benign 0.17
Z1177:Ppp1r26 UTSW 2 28452868 missense probably benign 0.45
Z1177:Ppp1r26 UTSW 2 28453480 missense probably damaging 0.98
Posted On 2014-05-07