Incidental Mutation 'R5613:Ppp1r11'
ID438109
Institutional Source Beutler Lab
Gene Symbol Ppp1r11
Ensembl Gene ENSMUSG00000036398
Gene Nameprotein phosphatase 1, regulatory (inhibitor) subunit 11
SynonymsTctex-5, HCGV, Tctex5, 1500041B02Rik, Tcte5, HCG-V
MMRRC Submission 043274-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.804) question?
Stock #R5613 (G1)
Quality Score225
Status Validated
Chromosome17
Chromosomal Location36948356-36951741 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 36951488 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 7 (G7W)
Ref Sequence ENSEMBL: ENSMUSP00000134685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040402] [ENSMUST00000040498] [ENSMUST00000113669] [ENSMUST00000172518] [ENSMUST00000172823] [ENSMUST00000173540] [ENSMUST00000174669] [ENSMUST00000174711]
Predicted Effect probably damaging
Transcript: ENSMUST00000040402
AA Change: G7W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047202
Gene: ENSMUSG00000036398
AA Change: G7W

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: ENSMUST00000173540
SMART Domains Protein: ENSMUSP00000134322
Gene: ENSMUSG00000036398

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: G7W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134685
Gene: ENSMUSG00000036398
AA Change: G7W

DomainStartEndE-ValueType
Pfam:PPI_Ypi1 22 87 8.7e-26 PFAM
low complexity region 105 128 N/A INTRINSIC
Meta Mutation Damage Score 0.1283 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.9%
  • 20x: 97.0%
Validation Efficiency 98% (59/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430097D07Rik T C 2: 32,575,334 probably benign Het
9530053A07Rik A T 7: 28,142,878 probably benign Het
Adamts16 A C 13: 70,730,134 S1171A probably benign Het
Agtr1b T C 3: 20,316,260 T61A probably damaging Het
Ankrd35 A G 3: 96,683,018 D257G possibly damaging Het
Arhgef5 A G 6: 43,274,063 T583A probably benign Het
Camk2g T C 14: 20,737,491 N423S probably damaging Het
Cand1 A T 10: 119,215,323 H293Q possibly damaging Het
Chd4 A C 6: 125,120,546 E1359D probably damaging Het
Creb3 T C 4: 43,566,196 C264R probably benign Het
Cul9 T C 17: 46,503,844 D2171G probably damaging Het
Cyp7a1 A T 4: 6,272,799 L138Q probably damaging Het
Dclk1 A G 3: 55,516,939 T380A probably benign Het
Dnm2 T A 9: 21,472,667 I248N probably damaging Het
Dtx4 A T 19: 12,485,403 S337R probably damaging Het
Dus3l T C 17: 56,767,882 S335P possibly damaging Het
Dync1h1 T C 12: 110,632,820 Y1870H possibly damaging Het
Eral1 G A 11: 78,074,404 probably benign Het
Eya1 G T 1: 14,302,929 probably benign Het
Fbxw28 T A 9: 109,338,533 Y52F probably benign Het
Gm5600 A G 7: 113,708,056 noncoding transcript Het
Gm5901 A G 7: 105,377,325 Y100C probably damaging Het
Haus3 A G 5: 34,167,829 L162P probably damaging Het
Hivep2 T C 10: 14,139,495 I1802T probably damaging Het
Klf7 G A 1: 64,042,396 R258C probably damaging Het
Mapt A G 11: 104,302,390 N66D possibly damaging Het
Mypop G A 7: 18,991,976 probably benign Het
Nefm T A 14: 68,121,134 K484* probably null Het
Nup153 A C 13: 46,687,271 S954A possibly damaging Het
Olfr1251 T C 2: 89,667,044 N281D probably damaging Het
Olfr155 G A 4: 43,854,528 C73Y probably damaging Het
Pkn1 C T 8: 83,677,761 A543T probably benign Het
Prss52 A T 14: 64,109,502 N42Y possibly damaging Het
Ptger2 T G 14: 44,989,503 V180G possibly damaging Het
Rep15 G T 6: 147,032,854 V64F possibly damaging Het
Rfpl4b T A 10: 38,821,377 Q76L probably benign Het
Slc11a1 G A 1: 74,380,906 G191D probably damaging Het
Slc16a12 T C 19: 34,674,958 M263V probably benign Het
Spdye4c A T 2: 128,592,969 Q95L possibly damaging Het
Srfbp1 G A 18: 52,483,645 D81N probably damaging Het
Sspo G A 6: 48,455,044 V731M possibly damaging Het
Susd6 G T 12: 80,868,534 G98C probably damaging Het
Tlr4 T A 4: 66,840,885 S638R possibly damaging Het
Tnfsf13 G T 11: 69,683,995 probably null Het
Tnfsf18 A G 1: 161,503,728 N149S possibly damaging Het
Tor1aip1 T C 1: 156,033,753 K176E probably damaging Het
Trav10 A T 14: 53,506,026 H28L probably benign Het
Trim30a T A 7: 104,430,182 K155N probably damaging Het
Trpm1 A G 7: 64,208,411 D333G probably damaging Het
Tssk1 T C 16: 17,894,500 S50P probably benign Het
Ttll9 CAAA CAA 2: 152,973,601 probably null Het
Ttn A T 2: 76,909,652 probably benign Het
Vmn2r115 A T 17: 23,345,333 I160L probably benign Het
Wdr95 A T 5: 149,584,470 D396V probably damaging Het
Zfp651 T A 9: 121,767,519 I647N probably damaging Het
Zfp799 T C 17: 32,819,990 Y433C probably damaging Het
Other mutations in Ppp1r11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02584:Ppp1r11 APN 17 36949889 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
Predicted Primers PCR Primer
(F):5'- AAGCATCTCTATTTAGTTCCTTGCG -3'
(R):5'- TTGGACAGGTTTTCCCCAGG -3'

Sequencing Primer
(F):5'- CCTTGCGATTTTCCCAATAAGAG -3'
(R):5'- CAGGTTTTCCCCAGGGGTGG -3'
Posted On2016-10-26