Incidental Mutation 'IGL01415:Ppp4r1'
ID 80189
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp4r1
Ensembl Gene ENSMUSG00000061950
Gene Name protein phosphatase 4, regulatory subunit 1
Synonyms 3110001J10Rik, Pp4r1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01415
Quality Score
Status
Chromosome 17
Chromosomal Location 66089568-66148921 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66120522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 219 (E219K)
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: E219K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: E219K

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: E202K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: E202K

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: ENSMUST00000161127
SMART Domains Protein: ENSMUSP00000123862
Gene: ENSMUSG00000061950

DomainStartEndE-ValueType
SCOP:d1gw5a_ 25 154 1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162109
AA Change: E219K

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125220
Gene: ENSMUSG00000061950
AA Change: E219K

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 possibly damaging
Transcript: ENSMUST00000162272
AA Change: E176K

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124227
Gene: ENSMUSG00000061950
AA Change: E176K

DomainStartEndE-ValueType
SCOP:d1gw5a_ 57 220 3e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162408
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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd44 T C 1: 54,792,087 (GRCm39) H316R probably damaging Het
Arfgef2 G A 2: 166,709,275 (GRCm39) M1117I probably damaging Het
Cdc42bpg A G 19: 6,360,881 (GRCm39) D213G probably damaging Het
Cfap69 G A 5: 5,696,979 (GRCm39) P106S probably damaging Het
Chkb A T 15: 89,312,987 (GRCm39) L30H probably damaging Het
Cit A G 5: 116,079,962 (GRCm39) K758E possibly damaging Het
Clstn3 G A 6: 124,415,781 (GRCm39) Q634* probably null Het
Efcab15 T C 11: 103,091,754 (GRCm39) Q42R probably damaging Het
Esrra C A 19: 6,890,100 (GRCm39) W98C probably damaging Het
Ganab A G 19: 8,892,058 (GRCm39) probably benign Het
Gcnt3 G T 9: 69,941,739 (GRCm39) H276Q probably benign Het
Gm16506 A G 14: 43,961,630 (GRCm39) Y206H probably benign Het
Gvin3 C T 7: 106,202,258 (GRCm39) noncoding transcript Het
Hkdc1 T A 10: 62,229,638 (GRCm39) N680Y probably damaging Het
Ighe A C 12: 113,235,011 (GRCm39) L383R unknown Het
Lgals9 T G 11: 78,863,977 (GRCm39) D56A probably damaging Het
Marveld3 G A 8: 110,688,705 (GRCm39) T12I possibly damaging Het
Nab2 A T 10: 127,500,972 (GRCm39) L40Q probably damaging Het
Naip6 T C 13: 100,439,798 (GRCm39) E323G probably benign Het
Nubpl T A 12: 52,317,853 (GRCm39) V182E possibly damaging Het
Or2ag15 A G 7: 106,340,706 (GRCm39) V145A probably benign Het
Or4c11 T A 2: 88,695,864 (GRCm39) M305K probably benign Het
Or6b3 A G 1: 92,438,974 (GRCm39) Y259H probably damaging Het
Peg3 A G 7: 6,714,652 (GRCm39) I190T probably damaging Het
Plcl1 G A 1: 55,735,555 (GRCm39) V299M possibly damaging Het
Sh3d19 G A 3: 86,005,492 (GRCm39) A280T probably benign Het
Srebf2 A G 15: 82,061,663 (GRCm39) I370V probably benign Het
Tfb2m A G 1: 179,359,695 (GRCm39) probably benign Het
Ttll7 T G 3: 146,615,354 (GRCm39) S273A possibly damaging Het
Unc79 A G 12: 103,074,944 (GRCm39) N1401D probably damaging Het
Vmn2r115 T A 17: 23,578,755 (GRCm39) S743T probably damaging Het
Zfand4 G A 6: 116,291,830 (GRCm39) R588Q probably benign Het
Other mutations in Ppp4r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Ppp4r1 APN 17 66,123,014 (GRCm39) missense probably benign 0.06
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
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
Posted On 2013-11-05