Incidental Mutation 'R5705:Ppp1r10'
ID 451948
Institutional Source Beutler Lab
Gene Symbol Ppp1r10
Ensembl Gene ENSMUSG00000039220
Gene Name protein phosphatase 1, regulatory subunit 10
Synonyms PNUTS, 2610025H06Rik, D17Ertd808e
MMRRC Submission 043330-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5705 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 36227404-36243175 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36240381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 557 (V557A)
Ref Sequence ENSEMBL: ENSMUSP00000084461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087210] [ENSMUST00000087211]
AlphaFold Q80W00
Predicted Effect probably damaging
Transcript: ENSMUST00000087210
AA Change: V557A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220
AA Change: V557A

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 damaging
Transcript: ENSMUST00000087211
AA Change: V557A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220
AA Change: V557A

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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
Abca7 T C 10: 79,851,276 (GRCm39) V2163A probably benign Het
Abcg3 G A 5: 105,116,036 (GRCm39) A266V probably damaging Het
Ago1 T C 4: 126,342,587 (GRCm39) I519V probably benign Het
Arhgap4 G A X: 72,950,423 (GRCm39) R43W probably damaging Het
Aurkb T A 11: 68,939,641 (GRCm39) L213I possibly damaging Het
Bod1l T A 5: 41,974,345 (GRCm39) Q2323L probably benign Het
Calhm5 A T 10: 33,971,989 (GRCm39) C149S probably damaging Het
Ccdc17 C T 4: 116,454,066 (GRCm39) T28I probably benign Het
Ccdc39 T C 3: 33,871,086 (GRCm39) E630G probably damaging Het
Cnih4 A G 1: 180,981,300 (GRCm39) I24V probably benign Het
Ctse C A 1: 131,592,112 (GRCm39) T146K possibly damaging Het
Ctsr A G 13: 61,309,078 (GRCm39) F226L probably damaging Het
Cyp2a22 T C 7: 26,638,640 (GRCm39) N49D probably benign Het
Defb23 C T 2: 152,301,204 (GRCm39) A123T probably benign Het
Dtx2 C A 5: 136,039,149 (GRCm39) D69E probably damaging Het
Eps8l1 T C 7: 4,473,034 (GRCm39) V91A probably benign Het
Eps8l3 C A 3: 107,798,580 (GRCm39) Q489K probably benign Het
Esyt3 A G 9: 99,200,260 (GRCm39) S645P probably benign Het
Fam161a T A 11: 22,978,869 (GRCm39) M472K unknown Het
Glp2r A G 11: 67,600,565 (GRCm39) V428A probably benign Het
Gnl1 G A 17: 36,292,492 (GRCm39) V191I probably benign Het
Hfm1 T C 5: 107,059,319 (GRCm39) I234M probably benign Het
Hlx T C 1: 184,463,062 (GRCm39) T197A probably benign Het
Hs3st2 T C 7: 120,992,305 (GRCm39) L85P probably damaging Het
Igsf9 T C 1: 172,322,338 (GRCm39) V511A possibly damaging Het
Insyn2b A G 11: 34,354,349 (GRCm39) Y473C probably damaging Het
Kcnma1 A T 14: 24,053,839 (GRCm39) C54S possibly damaging Het
Klhdc4 A G 8: 122,531,732 (GRCm39) V181A probably benign Het
Ldb3 T C 14: 34,298,986 (GRCm39) M213V probably null Het
Mertk C A 2: 128,613,321 (GRCm39) Q446K probably benign Het
Ndufs1 A G 1: 63,186,317 (GRCm39) V46A probably benign Het
Neurod4 A G 10: 130,107,271 (GRCm39) M1T probably null Het
Nlrc5 T A 8: 95,202,385 (GRCm39) C162S probably benign Het
Pald1 A G 10: 61,159,076 (GRCm39) I785T possibly damaging Het
Pcmt1 T C 10: 7,513,954 (GRCm39) I224M possibly damaging Het
Pisd C T 5: 32,894,707 (GRCm39) R533H probably benign Het
Plcxd3 C A 15: 4,546,676 (GRCm39) Q227K probably benign Het
Polr1b A T 2: 128,947,271 (GRCm39) K199* probably null Het
Ralgapa2 A G 2: 146,291,193 (GRCm39) Y248H probably damaging Het
Rsrp1 T C 4: 134,651,331 (GRCm39) S32P unknown Het
Setdb2 T G 14: 59,660,814 (GRCm39) S110R possibly damaging Het
Srcin1 A G 11: 97,439,777 (GRCm39) C152R probably benign Het
Syk A G 13: 52,765,083 (GRCm39) N70S probably benign Het
Tlr4 T A 4: 66,752,217 (GRCm39) D59E probably damaging Het
Tm9sf4 T A 2: 153,024,378 (GRCm39) I67N probably benign Het
Trim30b T A 7: 104,006,784 (GRCm39) Y24F probably damaging Het
Tsga13 A G 6: 30,876,951 (GRCm39) S189P probably damaging Het
Tspan33 A G 6: 29,717,232 (GRCm39) D210G probably benign Het
Use1 G T 8: 71,822,331 (GRCm39) R278L probably damaging Het
Wwc1 T C 11: 35,767,423 (GRCm39) N403D probably damaging Het
Zfp263 C T 16: 3,564,318 (GRCm39) P203S probably benign 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
IGL03181:Ppp1r10 APN 17 36,241,516 (GRCm39) nonsense 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
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
Predicted Primers PCR Primer
(F):5'- GATGAGGTAAGTGGCTGTCAC -3'
(R):5'- AACTGGGATAAGCCAGGCAC -3'

Sequencing Primer
(F):5'- CACTGTTGTGGGTGGGAAGC -3'
(R):5'- ACAGGGTGCAGGATGTCC -3'
Posted On 2017-01-03