Incidental Mutation 'IGL02584:Ppp1r11'
ID299468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r11
Ensembl Gene ENSMUSG00000036398
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 11
SynonymsTctex-5, HCGV, Tctex5, 1500041B02Rik, Tcte5, HCG-V
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.868) question?
Stock #IGL02584
Quality Score
Status
Chromosome17
Chromosomal Location36948356-36951741 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 36949889 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 61 (R61C)
Ref Sequence ENSEMBL: ENSMUSP00000134685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040402] [ENSMUST00000040498] [ENSMUST00000113669] [ENSMUST00000172518] [ENSMUST00000172823] [ENSMUST00000173072] [ENSMUST00000173540] [ENSMUST00000174669] [ENSMUST00000174711]
Predicted Effect probably damaging
Transcript: ENSMUST00000040402
AA Change: R61C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047202
Gene: ENSMUSG00000036398
AA Change: R61C

DomainStartEndE-ValueType
Pfam:PPI_Ypi1 22 87 8.7e-26 PFAM
low complexity region 105 128 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000040498
SMART Domains Protein: ENSMUSP00000037860
Gene: ENSMUSG00000036492

DomainStartEndE-ValueType
RING 20 66 3.47e-4 SMART
low complexity region 99 109 N/A INTRINSIC
PRY 159 212 6.23e-15 SMART
Blast:SPRY 213 349 1e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113669
SMART Domains Protein: ENSMUSP00000109299
Gene: ENSMUSG00000036315

DomainStartEndE-ValueType
ZnF_C2C2 82 121 1.68e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172518
SMART Domains Protein: ENSMUSP00000133651
Gene: ENSMUSG00000036315

DomainStartEndE-ValueType
ZnF_C2C2 82 121 1.68e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172823
SMART Domains Protein: ENSMUSP00000133644
Gene: ENSMUSG00000036315

DomainStartEndE-ValueType
ZnF_C2C2 59 98 1.68e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173072
SMART Domains Protein: ENSMUSP00000133710
Gene: ENSMUSG00000036492

DomainStartEndE-ValueType
RING 20 66 3.47e-4 SMART
low complexity region 99 109 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173540
AA Change: R50C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134322
Gene: ENSMUSG00000036398
AA Change: R50C

DomainStartEndE-ValueType
Pfam:PPI_Ypi1 5 77 2e-24 PFAM
low complexity region 94 117 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174466
Predicted Effect probably benign
Transcript: ENSMUST00000174669
SMART Domains Protein: ENSMUSP00000134113
Gene: ENSMUSG00000036492

DomainStartEndE-ValueType
PRY 37 90 6.23e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174711
AA Change: R61C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134685
Gene: ENSMUSG00000036398
AA Change: R61C

DomainStartEndE-ValueType
Pfam:PPI_Ypi1 22 87 8.7e-26 PFAM
low complexity region 105 128 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a specific inhibitor of protein phosphatase-1 (PP1) with a differential sensitivity toward the metal-independent and metal-dependent forms of PP1. The gene is located within the major histocompatibility complex class I region on chromosome 6. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 89,174,856 Y22F unknown Het
Adgrb3 A G 1: 25,504,984 L312P probably damaging Het
Anpep T C 7: 79,825,393 probably benign Het
Arhgef6 T G X: 57,246,378 probably benign Het
Catsperg1 T C 7: 29,184,721 D989G probably damaging Het
Ccnj T A 19: 40,844,741 V121E probably benign Het
Cdyl T C 13: 35,683,786 L15P probably benign Het
Cnrip1 T A 11: 17,078,536 M156K probably damaging Het
Cryga T A 1: 65,103,016 S73C probably benign Het
Dennd4a A G 9: 64,851,298 T240A probably damaging Het
Eml6 A G 11: 29,749,387 S1789P probably damaging Het
Esr2 A T 12: 76,145,262 W331R probably damaging Het
Fbxo18 A T 2: 11,759,958 L455H probably benign Het
Gm21698 T A 5: 25,987,393 E65V probably damaging Het
Grm8 G T 6: 27,762,439 F262L probably benign Het
Haus3 A T 5: 34,166,258 L336* probably null Het
Hfm1 A C 5: 106,878,662 probably null Het
Hgfac T C 5: 35,043,961 probably benign Het
Ighv1-22 T C 12: 114,746,322 E101G probably benign Het
Impg2 A G 16: 56,265,011 E1027G probably damaging Het
Lypd5 A T 7: 24,353,568 T217S possibly damaging Het
Myrf A G 19: 10,212,223 probably benign Het
Mzf1 A G 7: 13,052,817 W109R probably damaging Het
Ndufb4 A T 16: 37,649,170 probably benign Het
Ntn1 A G 11: 68,277,530 V367A probably damaging Het
Olfr1029 C T 2: 85,975,875 L211F probably damaging Het
Oprk1 A G 1: 5,598,604 K91R probably damaging Het
Pdlim1 A G 19: 40,243,400 probably null Het
Racgap1 T C 15: 99,623,634 D547G probably benign Het
Sema4b A G 7: 80,224,988 T709A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Supt5 T C 7: 28,326,167 H218R probably benign Het
Tmem132c T A 5: 127,504,999 I426N probably damaging Het
Tpcn1 T C 5: 120,539,032 N696S probably damaging Het
Ttn T C 2: 76,736,162 N26383S possibly damaging Het
Vax2 A G 6: 83,711,513 T73A probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Ppp1r11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5613:Ppp1r11 UTSW 17 36951488 missense probably damaging 1.00
R7327:Ppp1r11 UTSW 17 36951008 missense possibly damaging 0.82
R8039:Ppp1r11 UTSW 17 36951446 missense probably damaging 0.97
R8353:Ppp1r11 UTSW 17 36949974 missense possibly damaging 0.94
Posted On2015-04-16