Incidental Mutation 'R4280:Ppp4r3c1'
ID 322876
Institutional Source Beutler Lab
Gene Symbol Ppp4r3c1
Ensembl Gene ENSMUSG00000035387
Gene Name protein phosphatase 4 regulatory subunit 3C1
Synonyms 4930415L06Rik
MMRRC Submission 041648-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R4280 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 88973704-88976458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88976105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 31 (W31R)
Ref Sequence ENSEMBL: ENSMUSP00000085471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088146]
AlphaFold Q3V0Y1
Predicted Effect probably damaging
Transcript: ENSMUST00000088146
AA Change: W31R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085471
Gene: ENSMUSG00000035387
AA Change: W31R

DomainStartEndE-ValueType
SCOP:d1k5db_ 18 107 1e-22 SMART
Pfam:SMK-1 178 369 9e-72 PFAM
low complexity region 650 663 N/A INTRINSIC
low complexity region 692 707 N/A INTRINSIC
low complexity region 774 791 N/A INTRINSIC
low complexity region 793 806 N/A INTRINSIC
Meta Mutation Damage Score 0.1201 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (51/51)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap32 T C 9: 32,171,185 (GRCm39) C1322R probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Arvcf G A 16: 18,216,741 (GRCm39) R292H probably damaging Het
Ccdc102a C A 8: 95,634,444 (GRCm39) G382* probably null Het
Cd274 A T 19: 29,357,871 (GRCm39) M188L probably benign Het
Cep76 T A 18: 67,773,229 (GRCm39) D23V probably benign Het
Cimip3 T C 17: 47,724,780 (GRCm39) M17V probably benign Het
Clec12a A G 6: 129,340,892 (GRCm39) Y224C probably damaging Het
Cplx2 A G 13: 54,527,377 (GRCm39) E87G probably damaging Het
Ctr9 A G 7: 110,645,930 (GRCm39) probably benign Het
Dgat2 A G 7: 98,808,204 (GRCm39) I157T probably damaging Het
Epha1 G T 6: 42,341,986 (GRCm39) P355T probably damaging Het
Fabp3 C T 4: 130,206,245 (GRCm39) probably null Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Hephl1 A G 9: 15,023,330 (GRCm39) V24A probably benign Het
Itgb4 T A 11: 115,881,761 (GRCm39) M771K probably damaging Het
Mov10 A C 3: 104,707,095 (GRCm39) F635V probably damaging Het
Mtres1 A T 10: 43,408,905 (GRCm39) F79L probably benign Het
Or10ag60 A G 2: 87,438,595 (GRCm39) T288A possibly damaging Het
Or5an9 A G 19: 12,187,302 (GRCm39) Y124C probably damaging Het
Pbrm1 T C 14: 30,829,269 (GRCm39) probably null Het
Plscr1l1 T C 9: 92,225,701 (GRCm39) Y8H possibly damaging Het
Plxnd1 A T 6: 115,933,056 (GRCm39) probably null Het
Plxnd1 C A 6: 115,933,055 (GRCm39) probably benign Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Polq C A 16: 36,902,419 (GRCm39) Q2205K probably damaging Het
Pramel24 A G 4: 143,452,592 (GRCm39) T8A possibly damaging Het
Psma8 T A 18: 14,854,292 (GRCm39) D57E probably benign Het
Rbm47 T C 5: 66,183,520 (GRCm39) Y361C probably damaging Het
Rec8 A G 14: 55,856,091 (GRCm39) H11R probably damaging Het
Ric1 A G 19: 29,563,950 (GRCm39) Y568C probably damaging Het
Rrp36 G A 17: 46,983,302 (GRCm39) T104I probably damaging Het
Rrs1 G A 1: 9,616,364 (GRCm39) G206S probably damaging Het
Scgb2b6 A G 7: 31,318,367 (GRCm39) noncoding transcript Het
Skint5 T A 4: 113,799,749 (GRCm39) K126I probably damaging Het
Slc38a10 C T 11: 120,028,704 (GRCm39) G202D probably damaging Het
Supt5 G A 7: 28,016,498 (GRCm39) R761W probably damaging Het
Tmtc2 A G 10: 105,184,294 (GRCm39) probably null Het
Tob1 T C 11: 94,105,148 (GRCm39) V228A probably benign Het
Traj44 T C 14: 54,411,148 (GRCm39) probably benign Het
Trps1 G A 15: 50,709,478 (GRCm39) L291F probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ush2a A G 1: 188,310,658 (GRCm39) Q2078R probably benign Het
Zbtb24 T C 10: 41,340,916 (GRCm39) S649P probably benign Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp429 A C 13: 67,538,914 (GRCm39) C177G probably damaging Het
Other mutations in Ppp4r3c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02024:Ppp4r3c1 APN X 88,975,129 (GRCm39) missense probably benign 0.17
IGL02226:Ppp4r3c1 APN X 88,975,518 (GRCm39) missense probably damaging 0.99
R1980:Ppp4r3c1 UTSW X 88,975,051 (GRCm39) missense probably damaging 1.00
R1981:Ppp4r3c1 UTSW X 88,975,051 (GRCm39) missense probably damaging 1.00
R1982:Ppp4r3c1 UTSW X 88,975,051 (GRCm39) missense probably damaging 1.00
R2299:Ppp4r3c1 UTSW X 88,976,005 (GRCm39) missense possibly damaging 0.72
R2381:Ppp4r3c1 UTSW X 88,974,116 (GRCm39) missense probably benign 0.34
R2895:Ppp4r3c1 UTSW X 88,976,005 (GRCm39) missense possibly damaging 0.72
R2896:Ppp4r3c1 UTSW X 88,976,005 (GRCm39) missense possibly damaging 0.72
R4001:Ppp4r3c1 UTSW X 88,974,116 (GRCm39) missense probably benign 0.34
R4003:Ppp4r3c1 UTSW X 88,974,116 (GRCm39) missense probably benign 0.34
R4042:Ppp4r3c1 UTSW X 88,975,909 (GRCm39) missense probably damaging 1.00
R4043:Ppp4r3c1 UTSW X 88,975,909 (GRCm39) missense probably damaging 1.00
R4281:Ppp4r3c1 UTSW X 88,976,105 (GRCm39) missense probably damaging 1.00
R4282:Ppp4r3c1 UTSW X 88,976,105 (GRCm39) missense probably damaging 1.00
Z1088:Ppp4r3c1 UTSW X 88,973,843 (GRCm39) missense unknown
Z1088:Ppp4r3c1 UTSW X 88,973,842 (GRCm39) missense unknown
Z1176:Ppp4r3c1 UTSW X 88,973,847 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CCCAGATCTCTTGACAATCATTTGG -3'
(R):5'- AGAATTTTGACTGCGGCAAC -3'

Sequencing Primer
(F):5'- GGAAATGTATTGCCATGCCG -3'
(R):5'- CAACAGTTCTGGCCAAGGTAGC -3'
Posted On 2015-06-20