Incidental Mutation 'R8039:Ppp1r11'
ID 618446
Institutional Source Beutler Lab
Gene Symbol Ppp1r11
Ensembl Gene ENSMUSG00000036398
Gene Name protein phosphatase 1, regulatory (inhibitor) subunit 11
Synonyms Tctex-5, HCGV, Tctex5, 1500041B02Rik, Tcte5, HCG-V
MMRRC Submission 067476-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R8039 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 36948356-36951741 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36951446 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 21 (T21A)
Ref Sequence ENSEMBL: ENSMUSP00000047202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040402] [ENSMUST00000040498] [ENSMUST00000113669] [ENSMUST00000172518] [ENSMUST00000172823] [ENSMUST00000173540] [ENSMUST00000174669] [ENSMUST00000174711]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000040402
AA Change: T21A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047202
Gene: ENSMUSG00000036398
AA Change: T21A

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

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

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

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

ZnF_C2C2 59 98 1.68e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173540
SMART Domains Protein: ENSMUSP00000134322
Gene: ENSMUSG00000036398

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

PRY 37 90 6.23e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174711
AA Change: T21A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134685
Gene: ENSMUSG00000036398
AA Change: T21A

Pfam:PPI_Ypi1 22 87 8.7e-26 PFAM
low complexity region 105 128 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,943,214 (GRCm38) V1140E probably benign Het
Abca17 T C 17: 24,328,725 (GRCm38) H225R probably damaging Het
Adgrb2 T A 4: 130,022,268 (GRCm38) L1451Q probably damaging Het
Afdn T C 17: 13,899,141 (GRCm38) L1713P probably damaging Het
Agr2 A T 12: 35,995,559 (GRCm38) I15F probably benign Het
Agrn T C 4: 156,169,011 (GRCm38) T1808A probably benign Het
Akap6 A G 12: 53,141,676 (GRCm38) I1958V probably benign Het
Ankrd60 C A 2: 173,572,491 (GRCm38) probably null Het
Anpep A G 7: 79,839,400 (GRCm38) probably null Het
Apoa4 A T 9: 46,242,293 (GRCm38) D64V possibly damaging Het
Arhgef26 C A 3: 62,339,930 (GRCm38) T145N probably benign Het
Art1 A T 7: 102,106,845 (GRCm38) Q81L probably benign Het
Astl A T 2: 127,343,983 (GRCm38) S71C probably damaging Het
Atp2a1 A G 7: 126,448,805 (GRCm38) I611T probably damaging Het
Cacna2d2 T A 9: 107,527,433 (GRCm38) V1139D possibly damaging Het
Chst10 T A 1: 38,866,031 (GRCm38) K198* probably null Het
Ckmt2 G A 13: 91,863,312 (GRCm38) H60Y possibly damaging Het
Coq7 G C 7: 118,533,246 (GRCm38) S2R possibly damaging Het
Cspp1 T A 1: 10,113,013 (GRCm38) D814E probably benign Het
Cyp2c54 CCTCTTTCATAGCTCT CCTCT 19: 40,073,732 (GRCm38) probably null Het
Daam2 C A 17: 49,464,538 (GRCm38) G860V probably damaging Het
Ecm2 A T 13: 49,514,850 (GRCm38) I10F probably benign Het
Epb41l1 A T 2: 156,506,412 (GRCm38) D312V probably damaging Het
Epsti1 G A 14: 77,931,301 (GRCm38) R126H probably damaging Het
Erc1 A T 6: 119,773,665 (GRCm38) Y367* probably null Het
Erh T A 12: 80,637,578 (GRCm38) R42W probably damaging Het
Fam124a C T 14: 62,605,876 (GRCm38) Q278* probably null Het
Fam155a T C 8: 9,207,892 (GRCm38) T419A probably benign Het
Fbxo3 T A 2: 104,054,941 (GRCm38) L385Q probably damaging Het
Fbxo31 T A 8: 121,559,055 (GRCm38) T219S probably damaging Het
Fstl5 T G 3: 76,648,418 (GRCm38) V534G possibly damaging Het
Gatsl3 G T 11: 4,221,639 (GRCm38) A288S probably damaging Het
Gbp2b A T 3: 142,618,164 (GRCm38) I577F probably benign Het
Gbp8 A T 5: 105,050,917 (GRCm38) L44* probably null Het
Gck C T 11: 5,910,301 (GRCm38) A114T probably benign Het
Gm16486 T C 8: 70,710,906 (GRCm38) V916A probably benign Het
Gtf2i A G 5: 134,255,834 (GRCm38) V537A possibly damaging Het
Iqcm C A 8: 75,763,105 (GRCm38) H400Q probably damaging Het
Itpr1 T C 6: 108,386,628 (GRCm38) L737P probably damaging Het
Jakmip1 A G 5: 37,100,772 (GRCm38) E254G probably damaging Het
Kif15 A T 9: 123,007,425 (GRCm38) R1095W possibly damaging Het
Klhdc8a G A 1: 132,303,108 (GRCm38) R237Q probably benign Het
Klhl38 T C 15: 58,322,862 (GRCm38) E157G probably benign Het
Klrk1 T A 6: 129,612,823 (GRCm38) N221I probably benign Het
Lhx8 A T 3: 154,306,939 (GRCm38) H345Q probably damaging Het
Lims1 T A 10: 58,409,672 (GRCm38) N174K probably benign Het
Madd T A 2: 91,167,061 (GRCm38) Q754L probably benign Het
Mau2 T C 8: 70,019,790 (GRCm38) D581G probably damaging Het
Miga1 A T 3: 152,276,756 (GRCm38) I561N probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mob3c T C 4: 115,831,687 (GRCm38) V139A probably benign Het
Nadk G T 4: 155,577,067 (GRCm38) D17Y probably benign Het
Ncapd2 C T 6: 125,181,026 (GRCm38) V380I probably damaging Het
Nes G A 3: 87,977,008 (GRCm38) R858K probably benign Het
Nphp3 T C 9: 104,031,963 (GRCm38) S791P probably benign Het
Nup210 T C 6: 91,070,233 (GRCm38) T496A probably benign Het
Olfr1186 C T 2: 88,525,871 (GRCm38) T96I probably benign Het
Olfr220 T A 1: 174,449,596 (GRCm38) S324R unknown Het
Olfr914 T A 9: 38,607,389 (GRCm38) M308K probably benign Het
Ovgp1 T A 3: 105,976,023 (GRCm38) S105T probably benign Het
Pbld2 T A 10: 63,047,992 (GRCm38) C79S probably damaging Het
Pik3cd T A 4: 149,659,866 (GRCm38) M143L possibly damaging Het
Plat G T 8: 22,772,232 (GRCm38) G91W probably damaging Het
Poln A G 5: 34,122,672 (GRCm38) V282A probably benign Het
Prpf8 T A 11: 75,502,542 (GRCm38) I1664N possibly damaging Het
Prr29 C T 11: 106,376,912 (GRCm38) A161V probably benign Het
Rasa3 T C 8: 13,588,931 (GRCm38) D292G probably damaging Het
Rnf25 T C 1: 74,593,964 (GRCm38) T411A probably damaging Het
Rraga C T 4: 86,575,980 (GRCm38) T21I probably damaging Het
Setdb2 T A 14: 59,402,375 (GRCm38) Y673F probably damaging Het
Sf3a1 C T 11: 4,167,787 (GRCm38) T183I probably damaging Het
Shank3 A T 15: 89,505,439 (GRCm38) H413L probably damaging Het
Slc30a5 A G 13: 100,813,681 (GRCm38) probably null Het
Slc6a18 T C 13: 73,665,626 (GRCm38) S523G probably benign Het
Spaca1 C T 4: 34,044,207 (GRCm38) V96I probably damaging Het
Sycp2 C T 2: 178,374,585 (GRCm38) A695T probably benign Het
Tnrc18 C A 5: 142,732,052 (GRCm38) G2216C unknown Het
Trak2 T C 1: 58,946,288 (GRCm38) N17S probably benign Het
Ttn T A 2: 76,878,432 (GRCm38) N8792I unknown Het
Ttyh1 T C 7: 4,122,541 (GRCm38) V64A probably benign Het
Usb1 T A 8: 95,333,413 (GRCm38) S50R probably damaging Het
Ush2a T A 1: 188,957,373 (GRCm38) I5044N probably damaging Het
Vmn1r84 A T 7: 12,362,008 (GRCm38) F253I possibly damaging Het
Vmn2r99 T C 17: 19,380,040 (GRCm38) I442T probably benign Het
Vsig1 C T X: 140,933,126 (GRCm38) H232Y probably benign Het
Other mutations in Ppp1r11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02584:Ppp1r11 APN 17 36,949,889 (GRCm38) missense probably damaging 1.00
R5613:Ppp1r11 UTSW 17 36,951,488 (GRCm38) missense probably damaging 1.00
R7327:Ppp1r11 UTSW 17 36,951,008 (GRCm38) missense possibly damaging 0.82
R8353:Ppp1r11 UTSW 17 36,949,974 (GRCm38) missense possibly damaging 0.94
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-01-23