Incidental Mutation 'IGL02302:Ppp5c'
ID 287415
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp5c
Ensembl Gene ENSMUSG00000003099
Gene Name protein phosphatase 5, catalytic subunit
Synonyms PP5, ANP receptor
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02302
Quality Score
Status
Chromosome 7
Chromosomal Location 16738575-16761812 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 16742555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 261 (S261L)
Ref Sequence ENSEMBL: ENSMUSP00000003183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003183]
AlphaFold Q60676
Predicted Effect possibly damaging
Transcript: ENSMUST00000003183
AA Change: S261L

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000003183
Gene: ENSMUSG00000003099
AA Change: S261L

DomainStartEndE-ValueType
TPR 28 61 1.92e-6 SMART
TPR 62 95 8.29e0 SMART
TPR 96 129 4.28e-4 SMART
PP2Ac 204 480 2.8e-164 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138353
Predicted Effect unknown
Transcript: ENSMUST00000142597
AA Change: S237L
SMART Domains Protein: ENSMUSP00000122783
Gene: ENSMUSG00000003099
AA Change: S237L

DomainStartEndE-ValueType
TPR 27 60 1.92e-6 SMART
TPR 61 94 8.29e0 SMART
TPR 95 128 4.28e-4 SMART
PP2Ac 203 457 1.83e-145 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154880
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 a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit a decrease in cell cycle check-point arrest following treatment with ionizing radition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,422,257 (GRCm39) Q211L possibly damaging Het
Abca14 T A 7: 119,917,968 (GRCm39) probably benign Het
Abcb10 A T 8: 124,685,411 (GRCm39) V543D possibly damaging Het
Ankrd17 G A 5: 90,431,057 (GRCm39) T909I probably benign Het
Arhgef3 A G 14: 27,084,799 (GRCm39) N76S probably benign Het
Bbx A T 16: 50,045,278 (GRCm39) C320S probably damaging Het
Castor2 G A 5: 134,164,482 (GRCm39) V148I possibly damaging Het
Cdh23 C A 10: 60,159,302 (GRCm39) V2159F possibly damaging Het
Cmtr2 G A 8: 110,948,136 (GRCm39) A149T probably damaging Het
Cntnap4 A G 8: 113,512,535 (GRCm39) probably benign Het
Col6a3 A T 1: 90,709,482 (GRCm39) F1905I unknown Het
Ddx60 A G 8: 62,428,866 (GRCm39) Y792C possibly damaging Het
Dennd2b A G 7: 109,124,538 (GRCm39) V1101A probably damaging Het
Dock4 T C 12: 40,775,776 (GRCm39) L573P probably damaging Het
Dop1b A G 16: 93,607,005 (GRCm39) I2103V probably benign Het
Ear1 T G 14: 44,056,504 (GRCm39) Q121H probably benign Het
Eprs1 T A 1: 185,119,321 (GRCm39) probably benign Het
Ero1a T C 14: 45,530,619 (GRCm39) K271R probably benign Het
Esyt1 A G 10: 128,348,236 (GRCm39) L884P probably damaging Het
F2r T C 13: 95,741,160 (GRCm39) N125S probably damaging Het
Fam217a T C 13: 35,095,144 (GRCm39) E357G probably damaging Het
Gabbr1 C T 17: 37,365,689 (GRCm39) R123W probably damaging Het
Gimap4 T G 6: 48,667,347 (GRCm39) V34G probably damaging Het
Gm3248 A T 14: 5,943,011 (GRCm38) V180E probably benign Het
Hecw2 A T 1: 53,972,407 (GRCm39) N204K probably damaging Het
Ighv1-84 T A 12: 115,944,549 (GRCm39) K42* probably null Het
Kcnh7 T A 2: 62,536,402 (GRCm39) Q1060L probably damaging Het
Kif3b T A 2: 153,158,868 (GRCm39) I223N probably damaging Het
Lama2 G A 10: 27,088,039 (GRCm39) P913S probably benign Het
Lgr4 A G 2: 109,832,841 (GRCm39) I334M probably damaging Het
Lrrc45 G T 11: 120,609,351 (GRCm39) E403D possibly damaging Het
Mccc2 A G 13: 100,090,747 (GRCm39) L462P probably damaging Het
Mfsd13b T C 7: 120,598,132 (GRCm39) V346A probably damaging Het
Muc6 T C 7: 141,227,763 (GRCm39) T1342A possibly damaging Het
Mxd3 T C 13: 55,477,091 (GRCm39) N56S probably benign Het
Niban2 A G 2: 32,811,135 (GRCm39) I382V probably benign Het
Ntn5 G T 7: 45,343,672 (GRCm39) R337L probably damaging Het
Nynrin A G 14: 56,105,962 (GRCm39) K894E probably benign Het
Or1j4 G T 2: 36,740,715 (GRCm39) G219V probably benign Het
Or2a25 T A 6: 42,889,272 (GRCm39) Y272N probably damaging Het
Or4f56 A C 2: 111,703,887 (GRCm39) S104R possibly damaging Het
Or7e168 A T 9: 19,719,981 (GRCm39) R122S probably damaging Het
Pappa2 T C 1: 158,542,571 (GRCm39) D1772G probably benign Het
Pcdh18 G T 3: 49,710,387 (GRCm39) F309L probably benign Het
Pcdhac2 G T 18: 37,279,006 (GRCm39) R662L probably damaging Het
Qng1 G A 13: 58,529,749 (GRCm39) R288W probably damaging Het
Rc3h1 T C 1: 160,765,675 (GRCm39) probably benign Het
Rfx8 A C 1: 39,704,682 (GRCm39) S578A possibly damaging Het
Rhbdl3 T G 11: 80,244,507 (GRCm39) *405E probably null Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Rnf139 G T 15: 58,770,606 (GRCm39) L210F probably damaging Het
Rragc A G 4: 123,814,879 (GRCm39) R192G possibly damaging Het
Ryr3 A T 2: 112,794,701 (GRCm39) V137E probably damaging Het
S100pbp A T 4: 129,076,234 (GRCm39) D30E probably damaging Het
Smchd1 A T 17: 71,665,128 (GRCm39) probably benign Het
Sppl3 T A 5: 115,220,390 (GRCm39) C101S probably benign Het
St8sia6 T C 2: 13,728,324 (GRCm39) T74A probably benign Het
Sult3a1 A G 10: 33,742,571 (GRCm39) N66S possibly damaging Het
Sv2b T A 7: 74,773,947 (GRCm39) K508M probably damaging Het
Terf1 T C 1: 15,903,626 (GRCm39) S275P probably damaging Het
Tmed8 G T 12: 87,220,990 (GRCm39) H199N probably damaging Het
Tubg2 A T 11: 101,046,971 (GRCm39) Q9L probably damaging Het
Ubxn4 C T 1: 128,183,848 (GRCm39) probably benign Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Zfp213 A G 17: 23,776,945 (GRCm39) S366P possibly damaging Het
Other mutations in Ppp5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02794:Ppp5c APN 7 16,740,885 (GRCm39) missense probably benign 0.15
IGL02831:Ppp5c APN 7 16,742,570 (GRCm39) missense probably damaging 1.00
IGL02950:Ppp5c APN 7 16,740,835 (GRCm39) missense probably benign 0.00
Persephone UTSW 7 16,756,368 (GRCm39) missense probably benign 0.01
pontius UTSW 7 16,741,137 (GRCm39) nonsense probably null
Pylon UTSW 7 16,740,274 (GRCm39) missense probably damaging 1.00
R0078:Ppp5c UTSW 7 16,761,650 (GRCm39) missense probably benign 0.09
R0366:Ppp5c UTSW 7 16,756,508 (GRCm39) nonsense probably null
R1102:Ppp5c UTSW 7 16,756,368 (GRCm39) missense probably benign 0.01
R1511:Ppp5c UTSW 7 16,743,907 (GRCm39) missense probably damaging 1.00
R1518:Ppp5c UTSW 7 16,743,861 (GRCm39) missense probably damaging 0.97
R1714:Ppp5c UTSW 7 16,742,628 (GRCm39) missense probably benign 0.01
R1754:Ppp5c UTSW 7 16,739,235 (GRCm39) missense probably benign 0.20
R2380:Ppp5c UTSW 7 16,740,040 (GRCm39) missense probably damaging 1.00
R2431:Ppp5c UTSW 7 16,749,350 (GRCm39) missense probably damaging 0.99
R4854:Ppp5c UTSW 7 16,742,947 (GRCm39) missense probably benign 0.00
R4974:Ppp5c UTSW 7 16,743,861 (GRCm39) missense probably damaging 0.97
R5303:Ppp5c UTSW 7 16,739,209 (GRCm39) missense probably benign
R5626:Ppp5c UTSW 7 16,761,629 (GRCm39) missense probably benign
R5785:Ppp5c UTSW 7 16,761,616 (GRCm39) critical splice donor site probably null
R6059:Ppp5c UTSW 7 16,761,832 (GRCm39) unclassified probably benign
R6855:Ppp5c UTSW 7 16,740,891 (GRCm39) missense possibly damaging 0.95
R7760:Ppp5c UTSW 7 16,740,274 (GRCm39) missense probably damaging 1.00
R7885:Ppp5c UTSW 7 16,740,111 (GRCm39) missense possibly damaging 0.86
R7922:Ppp5c UTSW 7 16,761,725 (GRCm39) missense possibly damaging 0.72
R8113:Ppp5c UTSW 7 16,742,932 (GRCm39) missense probably benign
R8170:Ppp5c UTSW 7 16,741,071 (GRCm39) missense probably damaging 0.99
R9260:Ppp5c UTSW 7 16,740,886 (GRCm39) missense probably benign 0.06
R9376:Ppp5c UTSW 7 16,743,849 (GRCm39) missense probably damaging 1.00
R9460:Ppp5c UTSW 7 16,741,137 (GRCm39) nonsense probably null
X0026:Ppp5c UTSW 7 16,741,035 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16