Incidental Mutation 'R7528:Ppp4r1'
ID 583157
Institutional Source Beutler Lab
Gene Symbol Ppp4r1
Ensembl Gene ENSMUSG00000061950
Gene Name protein phosphatase 4, regulatory subunit 1
Synonyms 3110001J10Rik, Pp4r1
MMRRC Submission 045600-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7528 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 66089568-66148921 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 66120493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 209 (T209K)
Ref Sequence ENSEMBL: ENSMUSP00000072848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073104] [ENSMUST00000160664] [ENSMUST00000161127] [ENSMUST00000162109] [ENSMUST00000162272]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000073104
AA Change: T209K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: T209K

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 probably damaging
Transcript: ENSMUST00000160664
AA Change: T192K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: T192K

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 probably benign
Transcript: ENSMUST00000161127
SMART Domains Protein: ENSMUSP00000123862
Gene: ENSMUSG00000061950

DomainStartEndE-ValueType
SCOP:d1gw5a_ 25 154 1e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162109
AA Change: T209K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125220
Gene: ENSMUSG00000061950
AA Change: T209K

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 probably damaging
Transcript: ENSMUST00000162272
AA Change: T166K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124227
Gene: ENSMUSG00000061950
AA Change: T166K

DomainStartEndE-ValueType
SCOP:d1gw5a_ 57 220 3e-10 SMART
Meta Mutation Damage Score 0.1324 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (57/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,767,317 (GRCm39) E920G probably damaging Het
Acss2 A C 2: 155,399,066 (GRCm39) N443H probably damaging Het
Adam3 C A 8: 25,167,279 (GRCm39) A71S unknown Het
Agpat3 A G 10: 78,123,746 (GRCm39) L38P probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Amtn C A 5: 88,526,711 (GRCm39) probably null Het
App T G 16: 84,775,146 (GRCm39) Y497S possibly damaging Het
Bphl T A 13: 34,244,473 (GRCm39) Y197N probably damaging Het
Btrc T A 19: 45,491,525 (GRCm39) M160K possibly damaging Het
Ccdc181 A C 1: 164,107,527 (GRCm39) N70T probably benign Het
Cd55b T C 1: 130,347,473 (GRCm39) N113D possibly damaging Het
Ctrb1 T A 8: 112,413,783 (GRCm39) I194F probably benign Het
Dnah2 T C 11: 69,391,622 (GRCm39) H691R probably damaging Het
Dnajc13 A G 9: 104,056,164 (GRCm39) V1579A possibly damaging Het
Dst T A 1: 34,333,603 (GRCm39) F5030I probably damaging Het
Eppk1 G A 15: 76,004,308 (GRCm39) probably benign Het
Fbxw4 T C 19: 45,648,449 (GRCm39) E7G unknown Het
Fos T A 12: 85,522,432 (GRCm39) C154S probably damaging Het
Foxh1 A G 15: 76,553,511 (GRCm39) V97A probably benign Het
Gmeb1 G A 4: 131,959,361 (GRCm39) T231I possibly damaging Het
Golga3 T A 5: 110,360,098 (GRCm39) V1112E probably damaging Het
Gprin3 T C 6: 59,331,017 (GRCm39) D430G possibly damaging Het
Hpse2 T C 19: 42,801,463 (GRCm39) D441G probably damaging Het
Hydin G A 8: 111,107,204 (GRCm39) W460* probably null Het
Ifi204 T C 1: 173,579,406 (GRCm39) I480V probably benign Het
Impg2 T C 16: 56,080,743 (GRCm39) V849A possibly damaging Het
Kars1 T C 8: 112,737,866 (GRCm39) D12G probably benign Het
Klhdc7a A T 4: 139,694,828 (GRCm39) Y40N probably damaging Het
Krtap5-3 T C 7: 141,755,219 (GRCm39) C19R unknown Het
Macf1 G A 4: 123,325,852 (GRCm39) A5217V possibly damaging Het
Mlc1 A T 15: 88,858,710 (GRCm39) I146N possibly damaging Het
Myo3a A T 2: 22,270,925 (GRCm39) R129* probably null Het
Nsun4 G T 4: 115,891,391 (GRCm39) Y329* probably null Het
Or4k1 A G 14: 50,377,277 (GRCm39) V273A possibly damaging Het
Or56a3b T C 7: 104,771,071 (GRCm39) Y136H probably damaging Het
Pard3 G A 8: 128,329,646 (GRCm39) R1214H probably damaging Het
Phf20 T A 2: 156,144,928 (GRCm39) Y845* probably null Het
Pik3c2a A G 7: 115,993,474 (GRCm39) I431T probably damaging Het
Plxna2 A G 1: 194,494,464 (GRCm39) S1894G probably damaging Het
Ppp1r7 C T 1: 93,282,123 (GRCm39) Q225* probably null Het
Prc1 T C 7: 79,950,183 (GRCm39) probably null Het
Prex2 T G 1: 11,274,316 (GRCm39) D1329E probably damaging Het
Ptch1 C T 13: 63,659,528 (GRCm39) R1375H probably benign Het
Rab24 A T 13: 55,468,921 (GRCm39) C87S probably damaging Het
Rnf43 A T 11: 87,622,954 (GRCm39) Y558F probably benign Het
Serpinb6e T C 13: 34,016,474 (GRCm39) I420V possibly damaging Het
Slain2 C A 5: 73,072,143 (GRCm39) S59* probably null Het
Slfn3 A G 11: 83,105,731 (GRCm39) D576G probably benign Het
Sptbn4 A G 7: 27,141,960 (GRCm39) M11T probably benign Het
Tdh T C 14: 63,731,460 (GRCm39) D238G probably damaging Het
Top2b T A 14: 16,395,427 (GRCm38) Y337* probably null Het
Trav15-2-dv6-2 A C 14: 53,887,308 (GRCm39) Y76S probably benign Het
Vmn1r172 G T 7: 23,359,189 (GRCm39) G25C probably damaging Het
Vmn2r60 AG A 7: 41,845,158 (GRCm39) probably null Het
Vps13d T C 4: 144,818,492 (GRCm39) E3125G Het
Xkr6 G T 14: 64,056,610 (GRCm39) V430F probably benign Het
Zfp142 T C 1: 74,610,061 (GRCm39) T1245A probably benign Het
Zfp960 C T 17: 17,307,825 (GRCm39) H180Y 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
R4763:Ppp4r1 UTSW 17 66,142,105 (GRCm39) missense possibly damaging 0.90
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
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'- CTCTTTCGAAGTTACTGGCAAAATG -3'
(R):5'- TTGGCCAACTACACTGCAAATATCTC -3'

Sequencing Primer
(F):5'- CGAAGTTACTGGCAAAATGATTAAG -3'
(R):5'- AATTGGCAGCGCAGACCTG -3'
Posted On 2019-10-17