Incidental Mutation 'R4763:Ppp4r1'
ID 357064
Institutional Source Beutler Lab
Gene Symbol Ppp4r1
Ensembl Gene ENSMUSG00000061950
Gene Name protein phosphatase 4, regulatory subunit 1
Synonyms 3110001J10Rik, Pp4r1
MMRRC Submission 042404-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4763 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 66089568-66148921 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66142105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 720 (I720T)
Ref Sequence ENSEMBL: ENSMUSP00000072848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073104] [ENSMUST00000160664] [ENSMUST00000162109] [ENSMUST00000162703]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000073104
AA Change: I720T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: I720T

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
Pfam:HEAT 213 244 2e-5 PFAM
Pfam:HEAT 253 280 2.7e-6 PFAM
low complexity region 531 540 N/A INTRINSIC
PDB:3FGA|A 664 930 3e-6 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097293
Predicted Effect probably benign
Transcript: ENSMUST00000159646
SMART Domains Protein: ENSMUSP00000123796
Gene: ENSMUSG00000061950

DomainStartEndE-ValueType
low complexity region 92 101 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160664
AA Change: I703T

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: I703T

DomainStartEndE-ValueType
low complexity region 135 146 N/A INTRINSIC
Pfam:HEAT 236 263 2.2e-6 PFAM
low complexity region 514 523 N/A INTRINSIC
PDB:3FGA|A 647 913 3e-6 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161100
Predicted Effect probably benign
Transcript: ENSMUST00000162109
SMART Domains Protein: ENSMUSP00000125220
Gene: ENSMUSG00000061950

DomainStartEndE-ValueType
low complexity region 152 163 N/A INTRINSIC
Pfam:HEAT 253 280 7.1e-7 PFAM
Pfam:HEAT 292 322 2.1e-5 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182940
Predicted Effect probably benign
Transcript: ENSMUST00000162703
Meta Mutation Damage Score 0.6517 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 97% (73/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610303G11Rik A G 9: 98,069,176 (GRCm39) noncoding transcript Het
Abhd2 A G 7: 79,009,879 (GRCm39) E418G probably benign Het
Acox2 G T 14: 8,241,334 (GRCm38) H593N possibly damaging Het
Adam17 A G 12: 21,384,016 (GRCm39) Y495H probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Arhgap44 A G 11: 64,929,991 (GRCm39) I240T probably damaging Het
Atp2c1 T C 9: 105,295,766 (GRCm39) T653A probably damaging Het
Atxn7l1 G A 12: 33,408,877 (GRCm39) probably benign Het
Cacng8 T C 7: 3,463,508 (GRCm39) V220A probably damaging Het
Card14 A T 11: 119,234,001 (GRCm39) S864C probably damaging Het
Cfap58 C T 19: 47,971,945 (GRCm39) A625V probably damaging Het
Cfap61 T C 2: 145,859,287 (GRCm39) V425A probably benign Het
Cfap73 A G 5: 120,768,294 (GRCm39) F155L probably damaging Het
Cntrl G T 2: 35,065,563 (GRCm39) R2235L probably damaging Het
Cxxc1 A G 18: 74,352,484 (GRCm39) K355E probably damaging Het
Disc1 G A 8: 125,851,277 (GRCm39) G387D probably damaging Het
Dpf2 T C 19: 5,952,480 (GRCm39) Y286C probably damaging Het
E2f7 A T 10: 110,616,710 (GRCm39) K650M probably damaging Het
Fbln2 C T 6: 91,246,982 (GRCm39) S1027F probably damaging Het
Foxj2 G T 6: 122,810,230 (GRCm39) Q196H probably benign Het
Gm6811 A G 17: 21,314,109 (GRCm39) noncoding transcript Het
Gtf2i T C 5: 134,284,818 (GRCm39) K409E probably damaging Het
Hamp T A 7: 30,641,989 (GRCm39) R55S probably damaging Het
Heatr1 C T 13: 12,445,811 (GRCm39) T1596I possibly damaging Het
Hells T C 19: 38,945,643 (GRCm39) V601A probably damaging Het
Ighv5-8 A G 12: 113,617,161 (GRCm39) S34P probably damaging Het
Lig4 T C 8: 10,022,955 (GRCm39) D275G probably damaging Het
Meak7 A G 8: 120,495,122 (GRCm39) V212A probably benign Het
Med6 T C 12: 81,629,435 (GRCm39) D59G probably damaging Het
Men1 T C 19: 6,385,102 (GRCm39) probably null Het
Mlec G A 5: 115,295,972 (GRCm39) A41V unknown Het
Ncoa1 G A 12: 4,325,297 (GRCm39) T927I probably damaging Het
Neb T A 2: 52,127,052 (GRCm39) K378* probably null Het
Neb T A 2: 52,216,732 (GRCm39) K148* probably null Het
Or4b13 T A 2: 90,082,807 (GRCm39) Y175F probably damaging Het
Or4k41 T A 2: 111,280,023 (GRCm39) C179* probably null Het
Or5p73 G A 7: 108,065,393 (GRCm39) M287I probably benign Het
Or8g26 A G 9: 39,096,256 (GRCm39) T261A probably benign Het
Parp10 C T 15: 76,117,627 (GRCm39) V920M probably damaging Het
Parp6 C A 9: 59,538,648 (GRCm39) P241H probably damaging Het
Pcyox1l A G 18: 61,830,850 (GRCm39) Y341H probably benign Het
Pfas A T 11: 68,881,020 (GRCm39) D1080E possibly damaging Het
Pi4kb G T 3: 94,911,720 (GRCm39) probably benign Het
Piwil2 C T 14: 70,614,227 (GRCm39) V846M probably damaging Het
Pkd1l2 A G 8: 117,746,168 (GRCm39) F1941L probably damaging Het
Pot1b G A 17: 56,002,160 (GRCm39) T138M possibly damaging Het
Prr12 A G 7: 44,697,119 (GRCm39) L932S unknown Het
Rnaseh2a T A 8: 85,692,021 (GRCm39) E84V probably benign Het
Rpl18a G A 8: 71,348,330 (GRCm39) R118C probably benign Het
Rprm C A 2: 53,975,228 (GRCm39) C30F possibly damaging Het
Sbf2 G T 7: 110,020,124 (GRCm39) L579I probably damaging Het
Sfn C A 4: 133,328,656 (GRCm39) R142L probably benign Het
St8sia6 T C 2: 13,677,341 (GRCm39) K159E probably damaging Het
Sugct A T 13: 17,837,372 (GRCm39) F86L probably damaging Het
Tmcc3 T C 10: 94,415,173 (GRCm39) S292P probably damaging Het
Tmem33 A T 5: 67,443,479 (GRCm39) I219F probably benign Het
Trav8-1 C A 14: 53,707,492 (GRCm39) T44K possibly damaging Het
U2surp A G 9: 95,393,844 (GRCm39) probably benign Het
Use1 T C 8: 71,819,952 (GRCm39) L25P probably damaging Het
Vmn1r221 G T 13: 23,401,958 (GRCm39) noncoding transcript Het
Vmn1r50 C T 6: 90,085,062 (GRCm39) T269I probably benign Het
Washc3 A G 10: 88,055,185 (GRCm39) D125G probably damaging Het
Zfp142 G A 1: 74,615,671 (GRCm39) H278Y probably damaging Het
Zfp418 A G 7: 7,184,444 (GRCm39) N136D possibly damaging Het
Other mutations in Ppp4r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Ppp4r1 APN 17 66,123,014 (GRCm39) missense probably benign 0.06
IGL01415:Ppp4r1 APN 17 66,120,522 (GRCm39) missense probably damaging 1.00
IGL02166:Ppp4r1 APN 17 66,120,487 (GRCm39) missense probably benign 0.01
IGL02672:Ppp4r1 APN 17 66,147,942 (GRCm39) missense probably damaging 1.00
estancia UTSW 17 66,110,963 (GRCm39) critical splice donor site probably null
Hacienda UTSW 17 66,123,001 (GRCm39) missense probably benign
R0304:Ppp4r1 UTSW 17 66,123,001 (GRCm39) missense probably benign
R0976:Ppp4r1 UTSW 17 66,148,013 (GRCm39) makesense probably null
R1355:Ppp4r1 UTSW 17 66,147,982 (GRCm39) missense probably benign
R2356:Ppp4r1 UTSW 17 66,140,045 (GRCm39) missense probably damaging 0.99
R2405:Ppp4r1 UTSW 17 66,118,341 (GRCm39) missense possibly damaging 0.95
R3054:Ppp4r1 UTSW 17 66,143,074 (GRCm39) missense probably damaging 0.99
R4391:Ppp4r1 UTSW 17 66,131,749 (GRCm39) missense probably benign 0.05
R4603:Ppp4r1 UTSW 17 66,120,459 (GRCm39) missense probably damaging 1.00
R5571:Ppp4r1 UTSW 17 66,110,856 (GRCm39) nonsense probably null
R5586:Ppp4r1 UTSW 17 66,131,563 (GRCm39) missense probably benign 0.00
R5661:Ppp4r1 UTSW 17 66,110,963 (GRCm39) critical splice donor site probably null
R5742:Ppp4r1 UTSW 17 66,144,741 (GRCm39) missense probably damaging 0.97
R5971:Ppp4r1 UTSW 17 66,121,343 (GRCm39) missense possibly damaging 0.89
R6079:Ppp4r1 UTSW 17 66,121,343 (GRCm39) missense possibly damaging 0.89
R6138:Ppp4r1 UTSW 17 66,121,343 (GRCm39) missense possibly damaging 0.89
R6303:Ppp4r1 UTSW 17 66,131,724 (GRCm39) missense probably benign 0.10
R6684:Ppp4r1 UTSW 17 66,131,337 (GRCm39) missense probably benign 0.00
R7058:Ppp4r1 UTSW 17 66,136,495 (GRCm39) missense probably benign 0.00
R7397:Ppp4r1 UTSW 17 66,144,786 (GRCm39) missense probably benign 0.28
R7448:Ppp4r1 UTSW 17 66,147,936 (GRCm39) missense probably damaging 1.00
R7465:Ppp4r1 UTSW 17 66,138,015 (GRCm39) nonsense probably null
R7528:Ppp4r1 UTSW 17 66,120,493 (GRCm39) missense probably damaging 1.00
R7571:Ppp4r1 UTSW 17 66,117,611 (GRCm39) missense possibly damaging 0.91
R7910:Ppp4r1 UTSW 17 66,136,394 (GRCm39) missense probably damaging 1.00
R7910:Ppp4r1 UTSW 17 66,118,298 (GRCm39) missense probably benign 0.00
R7972:Ppp4r1 UTSW 17 66,140,093 (GRCm39) missense possibly damaging 0.90
R8910:Ppp4r1 UTSW 17 66,144,768 (GRCm39) missense probably damaging 1.00
R8915:Ppp4r1 UTSW 17 66,136,376 (GRCm39) missense probably damaging 0.99
R8939:Ppp4r1 UTSW 17 66,110,926 (GRCm39) missense probably damaging 1.00
R9515:Ppp4r1 UTSW 17 66,142,073 (GRCm39) missense probably null 1.00
R9557:Ppp4r1 UTSW 17 66,110,258 (GRCm39) missense probably benign 0.04
R9674:Ppp4r1 UTSW 17 66,140,127 (GRCm39) missense probably damaging 1.00
U15987:Ppp4r1 UTSW 17 66,121,343 (GRCm39) missense possibly damaging 0.89
Z1176:Ppp4r1 UTSW 17 66,145,921 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTCAGAGTACACAGCACTTTG -3'
(R):5'- CAACACACTTAGAAAGGCGTGTC -3'

Sequencing Primer
(F):5'- TGTGCTTAGATCTCTCACAGTG -3'
(R):5'- CTTAGAAAGGCGTGTCATACAC -3'
Posted On 2015-11-11