Incidental Mutation 'IGL02226:Ppp4r3c1'
ID 285358
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp4r3c1
Ensembl Gene ENSMUSG00000035387
Gene Name protein phosphatase 4 regulatory subunit 3C1
Synonyms 4930415L06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # IGL02226
Quality Score
Status
Chromosome X
Chromosomal Location 88973704-88976458 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88975518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 226 (D226E)
Ref Sequence ENSEMBL: ENSMUSP00000085471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088146]
AlphaFold Q3V0Y1
Predicted Effect probably damaging
Transcript: ENSMUST00000088146
AA Change: D226E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085471
Gene: ENSMUSG00000035387
AA Change: D226E

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T C 12: 53,057,250 (GRCm39) probably benign Het
Ankrd11 G A 8: 123,618,984 (GRCm39) R1602W probably damaging Het
Arhgap23 G T 11: 97,342,426 (GRCm39) R236L probably benign Het
Aurkaip1 T C 4: 155,917,028 (GRCm39) V92A probably benign Het
Cdh20 A T 1: 104,881,816 (GRCm39) probably benign Het
Ctnnd2 A G 15: 30,847,482 (GRCm39) N691S probably benign Het
Ddx24 A C 12: 103,390,717 (GRCm39) D2E possibly damaging Het
Dennd5b A G 6: 148,934,799 (GRCm39) S691P probably benign Het
Dhrs3 C T 4: 144,650,519 (GRCm39) R248W possibly damaging Het
Dlgap1 T C 17: 70,823,029 (GRCm39) S5P probably damaging Het
Dnai4 A T 4: 102,947,595 (GRCm39) I227K probably benign Het
Ep300 A T 15: 81,497,613 (GRCm39) M510L unknown Het
Fbxo25 T C 8: 13,973,922 (GRCm39) probably benign Het
Gm3252 A T 14: 4,743,741 (GRCm38) K193M possibly damaging Het
Gtf3c1 T C 7: 125,267,162 (GRCm39) probably null Het
Helz2 T C 2: 180,873,483 (GRCm39) D2337G probably damaging Het
Idh1 A T 1: 65,201,081 (GRCm39) M290K probably damaging Het
Layn T C 9: 50,985,317 (GRCm39) S80G probably damaging Het
Ltbp4 C T 7: 27,006,359 (GRCm39) E1440K probably damaging Het
Mri1 T C 8: 84,982,924 (GRCm39) T166A probably damaging Het
Myod1 C T 7: 46,027,730 (GRCm39) T290I probably benign Het
Nfat5 T A 8: 108,078,154 (GRCm39) L431* probably null Het
Nle1 A T 11: 82,795,133 (GRCm39) Y299* probably null Het
Nlrp4c T A 7: 6,069,828 (GRCm39) F576L possibly damaging Het
Nudt21 G T 8: 94,746,329 (GRCm39) S123* probably null Het
Plekhg1 A C 10: 3,895,916 (GRCm39) D436A probably damaging Het
Plxna2 T C 1: 194,326,732 (GRCm39) V222A probably damaging Het
Rbm14 A G 19: 4,851,745 (GRCm39) probably benign Het
Scfd1 T A 12: 51,436,164 (GRCm39) probably benign Het
Slc34a2 A G 5: 53,225,073 (GRCm39) T405A probably benign Het
Slc39a9 T A 12: 80,691,695 (GRCm39) M14K probably damaging Het
Slc39a9 G A 12: 80,691,696 (GRCm39) M14I probably damaging Het
Spast G A 17: 74,679,334 (GRCm39) probably benign Het
Spen T C 4: 141,205,457 (GRCm39) R1057G unknown Het
Sptbn4 T G 7: 27,065,132 (GRCm39) T2056P probably damaging Het
Ssrp1 T C 2: 84,870,705 (GRCm39) L148P probably damaging Het
Tdrd6 T A 17: 43,938,093 (GRCm39) H985L probably damaging Het
Tmem44 A G 16: 30,358,199 (GRCm39) probably benign Het
Vmn2r116 T A 17: 23,603,808 (GRCm39) L11Q probably null Het
Other mutations in Ppp4r3c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02024:Ppp4r3c1 APN X 88,975,129 (GRCm39) missense probably benign 0.17
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
R4280:Ppp4r3c1 UTSW X 88,976,105 (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
Posted On 2015-04-16