Incidental Mutation 'R8939:Ppp4r1'
ID 680876
Institutional Source Beutler Lab
Gene Symbol Ppp4r1
Ensembl Gene ENSMUSG00000061950
Gene Name protein phosphatase 4, regulatory subunit 1
Synonyms 3110001J10Rik, Pp4r1
MMRRC Submission 068712-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8939 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 66089568-66148921 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66110926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 70 (V70A)
Ref Sequence ENSEMBL: ENSMUSP00000124690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073104] [ENSMUST00000160664] [ENSMUST00000161127] [ENSMUST00000161324] [ENSMUST00000162109] [ENSMUST00000162272]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000073104
AA Change: V87A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072848
Gene: ENSMUSG00000061950
AA Change: V87A

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: V70A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124690
Gene: ENSMUSG00000061950
AA Change: V70A

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 damaging
Transcript: ENSMUST00000161127
AA Change: V44A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000123862
Gene: ENSMUSG00000061950
AA Change: V44A

DomainStartEndE-ValueType
SCOP:d1gw5a_ 25 154 1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161324
Predicted Effect probably damaging
Transcript: ENSMUST00000162109
AA Change: V87A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125220
Gene: ENSMUSG00000061950
AA Change: V87A

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: V44A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000124227
Gene: ENSMUSG00000061950
AA Change: V44A

DomainStartEndE-ValueType
SCOP:d1gw5a_ 57 220 3e-10 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (71/71)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik A G 14: 64,225,162 (GRCm39) V12A probably benign Het
Abcc12 A G 8: 87,243,947 (GRCm39) Y1069H probably damaging Het
Abcc9 T C 6: 142,624,977 (GRCm39) T473A probably damaging Het
Acsm1 A T 7: 119,239,868 (GRCm39) T271S probably benign Het
Adh6b T C 3: 138,055,397 (GRCm39) I49T probably benign Het
Aff4 A T 11: 53,263,231 (GRCm39) T84S probably benign Het
Angptl7 G A 4: 148,580,956 (GRCm39) R280* probably null Het
Bhlhe23 T A 2: 180,418,099 (GRCm39) K146N probably damaging Het
Cacna1s T C 1: 136,014,544 (GRCm39) probably null Het
Cfap45 C G 1: 172,372,834 (GRCm39) R510G probably damaging Het
Chl1 A G 6: 103,642,868 (GRCm39) Y202C probably damaging Het
Chrna6 T A 8: 27,896,870 (GRCm39) T336S probably benign Het
Clpx A G 9: 65,231,519 (GRCm39) K535E probably benign Het
Crybg3 T C 16: 59,376,512 (GRCm39) M1581V probably benign Het
Ddx4 A T 13: 112,758,823 (GRCm39) I246K probably benign Het
F7 G T 8: 13,078,724 (GRCm39) G52C probably damaging Het
Fam186b T C 15: 99,177,223 (GRCm39) Q701R probably benign Het
Fign T A 2: 63,809,456 (GRCm39) M605L probably benign Het
Fpr2 T C 17: 18,113,883 (GRCm39) F293S probably damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gria2 A T 3: 80,618,170 (GRCm39) probably benign Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Gsto2 T C 19: 47,873,203 (GRCm39) probably null Het
Hsd3b1 A G 3: 98,760,299 (GRCm39) W231R probably damaging Het
Igflr1 CAGAG CAG 7: 30,266,888 (GRCm39) probably null Het
Ighv1-80 C T 12: 115,876,113 (GRCm39) G68R probably damaging Het
Il10ra A G 9: 45,177,802 (GRCm39) V69A unknown Het
Klhdc1 C T 12: 69,300,537 (GRCm39) A159V probably damaging Het
Krtap4-6 A G 11: 99,556,229 (GRCm39) I166T unknown Het
Lce1h A T 3: 92,670,976 (GRCm39) C59S unknown Het
Magi3 T C 3: 103,996,748 (GRCm39) probably benign Het
Map3k1 G T 13: 111,892,837 (GRCm39) S806* probably null Het
Map3k6 T A 4: 132,979,954 (GRCm39) probably benign Het
Mgam G A 6: 40,740,137 (GRCm39) probably null Het
Mtx1 A G 3: 89,120,033 (GRCm39) V207A probably damaging Het
Muc5ac A T 7: 141,347,091 (GRCm39) N356Y probably damaging Het
Myo16 T C 8: 10,524,679 (GRCm39) F810S probably damaging Het
Nlrx1 A G 9: 44,166,761 (GRCm39) L774P probably damaging Het
Nr1i2 C T 16: 38,086,382 (GRCm39) V28I probably benign Het
Or10h28 A G 17: 33,488,589 (GRCm39) K297R probably damaging Het
Or5b122 A C 19: 13,562,860 (GRCm39) N64T probably damaging Het
Pcmtd2 T C 2: 181,496,863 (GRCm39) probably benign Het
Pcnx3 A G 19: 5,730,347 (GRCm39) L102P probably damaging Het
Pnpla6 A G 8: 3,571,319 (GRCm39) E114G possibly damaging Het
Psd2 G A 18: 36,121,292 (GRCm39) V421M probably damaging Het
Qng1 C T 13: 58,532,875 (GRCm39) A32T probably damaging Het
Rbak C T 5: 143,160,025 (GRCm39) E343K possibly damaging Het
Rhbdf1 G A 11: 32,160,093 (GRCm39) A136V probably benign Het
Rusc1 T A 3: 88,995,337 (GRCm39) E231D probably benign Het
Rxfp1 T C 3: 79,552,231 (GRCm39) E690G probably damaging Het
Sdr9c7 A G 10: 127,734,776 (GRCm39) E88G probably benign Het
Sec23b T C 2: 144,411,137 (GRCm39) probably null Het
Sgcb A T 5: 73,801,661 (GRCm39) I68N probably damaging Het
Sh3pxd2b T C 11: 32,364,433 (GRCm39) probably benign Het
Slc25a48 C T 13: 56,611,519 (GRCm39) P209S probably damaging Het
Slc9a3 C A 13: 74,311,895 (GRCm39) H614Q possibly damaging Het
Slurp1 G A 15: 74,598,763 (GRCm39) S76L probably damaging Het
Spen T C 4: 141,202,969 (GRCm39) E1886G possibly damaging Het
Sqor C T 2: 122,649,549 (GRCm39) P151S possibly damaging Het
Sstr4 C A 2: 148,238,228 (GRCm39) L280M probably damaging Het
Stard10 A G 7: 100,991,847 (GRCm39) Y117C probably damaging Het
Stard13 A T 5: 150,968,574 (GRCm39) probably null Het
Stim2 G T 5: 54,262,673 (GRCm39) R305L possibly damaging Het
Syt14 G A 1: 192,612,896 (GRCm39) R635C probably damaging Het
Tmcc3 A T 10: 94,381,483 (GRCm39) probably benign Het
Ttn T C 2: 76,575,695 (GRCm39) N23320S possibly damaging Het
Ubqln4 A G 3: 88,473,023 (GRCm39) T493A probably benign Het
Ugt2b34 A G 5: 87,039,158 (GRCm39) L501P probably damaging Het
Umod T C 7: 119,068,700 (GRCm39) I449V probably damaging Het
Vmn2r51 C A 7: 9,833,953 (GRCm39) D362Y possibly damaging Het
Xirp2 A C 2: 67,346,488 (GRCm39) T2910P probably benign Het
Zscan20 A G 4: 128,498,315 (GRCm39) S28P probably benign 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
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
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'- CACTCCTGTGATGAGACGATAATTG -3'
(R):5'- AGCTCTTCCAGAGTGTTGGG -3'

Sequencing Primer
(F):5'- CCTGTGATGAGACGATAATTGAAGTG -3'
(R):5'- CTCTTCCAGAGTGTTGGGGTTAGAG -3'
Posted On 2021-08-31