Incidental Mutation 'IGL03181:Ppp1r10'
ID 412229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp1r10
Ensembl Gene ENSMUSG00000039220
Gene Name protein phosphatase 1, regulatory subunit 10
Synonyms PNUTS, 2610025H06Rik, D17Ertd808e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03181
Quality Score
Status
Chromosome 17
Chromosomal Location 36227404-36243175 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 36241516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 764 (G764*)
Ref Sequence ENSEMBL: ENSMUSP00000084461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087210] [ENSMUST00000087211]
AlphaFold Q80W00
Predicted Effect probably null
Transcript: ENSMUST00000087210
AA Change: G764*
SMART Domains Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220
AA Change: G764*

DomainStartEndE-ValueType
TFS2N 74 146 2.23e-22 SMART
low complexity region 154 165 N/A INTRINSIC
low complexity region 179 196 N/A INTRINSIC
low complexity region 248 259 N/A INTRINSIC
low complexity region 303 310 N/A INTRINSIC
low complexity region 335 346 N/A INTRINSIC
low complexity region 355 363 N/A INTRINSIC
PDB:4MP0|D 393 433 8e-22 PDB
low complexity region 502 517 N/A INTRINSIC
low complexity region 540 552 N/A INTRINSIC
low complexity region 566 578 N/A INTRINSIC
low complexity region 621 639 N/A INTRINSIC
low complexity region 644 759 N/A INTRINSIC
low complexity region 781 812 N/A INTRINSIC
low complexity region 815 853 N/A INTRINSIC
ZnF_C3H1 855 881 5.76e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000087211
AA Change: G764*
SMART Domains Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220
AA Change: G764*

DomainStartEndE-ValueType
TFS2N 74 146 2.23e-22 SMART
low complexity region 154 165 N/A INTRINSIC
low complexity region 179 196 N/A INTRINSIC
low complexity region 248 259 N/A INTRINSIC
low complexity region 303 310 N/A INTRINSIC
low complexity region 335 346 N/A INTRINSIC
low complexity region 355 363 N/A INTRINSIC
PDB:4MP0|D 393 433 8e-22 PDB
low complexity region 502 517 N/A INTRINSIC
low complexity region 540 552 N/A INTRINSIC
low complexity region 566 578 N/A INTRINSIC
low complexity region 621 639 N/A INTRINSIC
low complexity region 644 759 N/A INTRINSIC
low complexity region 781 812 N/A INTRINSIC
low complexity region 815 853 N/A INTRINSIC
ZnF_C3H1 855 881 5.76e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173786
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 protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging Het
Other mutations in Ppp1r10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Ppp1r10 APN 17 36,235,751 (GRCm39) missense probably damaging 0.99
IGL01113:Ppp1r10 APN 17 36,240,451 (GRCm39) missense probably damaging 0.98
IGL01144:Ppp1r10 APN 17 36,237,456 (GRCm39) missense probably benign 0.28
IGL01650:Ppp1r10 APN 17 36,242,053 (GRCm39) missense unknown
IGL02445:Ppp1r10 APN 17 36,237,094 (GRCm39) missense probably damaging 1.00
IGL02715:Ppp1r10 APN 17 36,241,604 (GRCm39) missense unknown
IGL02797:Ppp1r10 APN 17 36,238,904 (GRCm39) critical splice donor site probably null
R1183:Ppp1r10 UTSW 17 36,240,335 (GRCm39) missense possibly damaging 0.56
R1710:Ppp1r10 UTSW 17 36,237,428 (GRCm39) missense probably damaging 0.96
R2166:Ppp1r10 UTSW 17 36,241,481 (GRCm39) missense unknown
R2865:Ppp1r10 UTSW 17 36,239,384 (GRCm39) missense possibly damaging 0.86
R2898:Ppp1r10 UTSW 17 36,239,784 (GRCm39) missense probably damaging 1.00
R3692:Ppp1r10 UTSW 17 36,241,760 (GRCm39) missense unknown
R4612:Ppp1r10 UTSW 17 36,238,823 (GRCm39) missense probably damaging 1.00
R4716:Ppp1r10 UTSW 17 36,240,352 (GRCm39) missense probably benign 0.16
R4796:Ppp1r10 UTSW 17 36,234,979 (GRCm39) missense probably damaging 1.00
R4997:Ppp1r10 UTSW 17 36,234,976 (GRCm39) missense probably damaging 1.00
R5152:Ppp1r10 UTSW 17 36,240,144 (GRCm39) missense probably damaging 1.00
R5186:Ppp1r10 UTSW 17 36,239,403 (GRCm39) missense probably damaging 1.00
R5364:Ppp1r10 UTSW 17 36,241,324 (GRCm39) missense unknown
R5705:Ppp1r10 UTSW 17 36,240,381 (GRCm39) missense probably damaging 1.00
R5847:Ppp1r10 UTSW 17 36,237,739 (GRCm39) missense possibly damaging 0.85
R6912:Ppp1r10 UTSW 17 36,240,453 (GRCm39) missense possibly damaging 0.70
R6974:Ppp1r10 UTSW 17 36,240,443 (GRCm39) missense probably benign 0.03
R7169:Ppp1r10 UTSW 17 36,240,365 (GRCm39) missense probably damaging 1.00
R7302:Ppp1r10 UTSW 17 36,241,773 (GRCm39) missense unknown
R7403:Ppp1r10 UTSW 17 36,240,326 (GRCm39) missense probably benign 0.05
R7427:Ppp1r10 UTSW 17 36,241,025 (GRCm39) missense possibly damaging 0.53
R8006:Ppp1r10 UTSW 17 36,239,158 (GRCm39) missense probably benign 0.00
R8850:Ppp1r10 UTSW 17 36,239,690 (GRCm39) missense probably damaging 0.97
R8944:Ppp1r10 UTSW 17 36,241,018 (GRCm39) missense probably benign 0.02
R9497:Ppp1r10 UTSW 17 36,235,786 (GRCm39) missense probably damaging 1.00
R9741:Ppp1r10 UTSW 17 36,237,331 (GRCm39) missense possibly damaging 0.55
Z1088:Ppp1r10 UTSW 17 36,241,659 (GRCm39) small deletion probably benign
Posted On 2016-08-02