Incidental Mutation 'IGL02794:Ppp5c'
ID359878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp5c
Ensembl Gene ENSMUSG00000003099
Gene Nameprotein phosphatase 5, catalytic subunit
SynonymsANP receptor, PP5
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02794
Quality Score
Status
Chromosome7
Chromosomal Location17004640-17027924 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 17006960 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 361 (V361A)
Ref Sequence ENSEMBL: ENSMUSP00000003183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003183]
Predicted Effect probably benign
Transcript: ENSMUST00000003183
AA Change: V361A

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000003183
Gene: ENSMUSG00000003099
AA Change: V361A

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: V337A
SMART Domains Protein: ENSMUSP00000122783
Gene: ENSMUSG00000003099
AA Change: V337A

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: ENSMUST00000146920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154880
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156366
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,402,411 C1082S probably benign Het
Akt2 G T 7: 27,629,381 R176L probably benign Het
Aldh16a1 A G 7: 45,145,594 Y484H probably damaging Het
Apeh A G 9: 108,092,010 S280P possibly damaging Het
Atp1a4 T C 1: 172,244,086 M481V probably benign Het
Atraid G A 5: 31,052,870 S135N probably damaging Het
Camta2 C T 11: 70,675,658 G677D possibly damaging Het
Ccdc18 A G 5: 108,171,748 N545S probably benign Het
Cic A G 7: 25,285,644 D1105G probably damaging Het
Crisp1 A T 17: 40,313,066 M4K unknown Het
Crnkl1 C T 2: 145,930,612 E182K possibly damaging Het
Dnmt1 A T 9: 20,936,551 C114S probably benign Het
Dsc2 A T 18: 20,041,731 Y496N probably damaging Het
Dst T C 1: 34,270,829 V1528A probably damaging Het
Fbxl8 C T 8: 105,268,120 T88M probably benign Het
Fbxo10 T C 4: 45,041,928 N767S probably benign Het
Gm1527 A G 3: 28,895,680 T30A unknown Het
Gorasp2 C A 2: 70,679,494 Y166* probably null Het
Gucy2c T A 6: 136,713,148 Q744L probably damaging Het
Heg1 A T 16: 33,726,622 N593I probably damaging Het
Ice1 T A 13: 70,609,159 S236C possibly damaging Het
Il12b T C 11: 44,407,981 Y88H probably damaging Het
Izumo3 C T 4: 92,146,963 V6I probably benign Het
Kcna6 A G 6: 126,738,552 V458A probably damaging Het
Kif13b G A 14: 64,803,440 R1659Q probably benign Het
Klk1b1 A G 7: 43,970,365 D116G possibly damaging Het
Lama2 T C 10: 27,041,231 T2233A possibly damaging Het
Lin9 A T 1: 180,651,879 K59N probably damaging Het
Ltbp2 T C 12: 84,791,935 E1083G probably damaging Het
Mfsd11 T A 11: 116,859,351 S105T probably damaging Het
Mga T A 2: 119,946,289 I1768N possibly damaging Het
Mical3 C A 6: 121,007,309 G202V probably damaging Het
Mylk A T 16: 34,986,541 I1719F probably benign Het
Nusap1 T A 2: 119,630,386 F120Y possibly damaging Het
Olfr1079 T C 2: 86,538,148 T256A possibly damaging Het
Olfr671 T A 7: 104,975,389 M203L probably benign Het
Olfr923 T A 9: 38,828,215 C175S probably damaging Het
Pidd1 T C 7: 141,443,108 Y57C probably benign Het
Pik3cd T A 4: 149,654,571 M671L probably benign Het
Prune2 T C 19: 17,119,361 V743A probably benign Het
Siglec1 C A 2: 131,075,969 S996I possibly damaging Het
Slc12a7 A G 13: 73,809,087 R948G possibly damaging Het
Slc40a1 A T 1: 45,909,508 Y537* probably null Het
Smarca4 T A 9: 21,673,342 probably benign Het
Smg6 C T 11: 75,053,934 P1109S probably damaging Het
Sorl1 T A 9: 42,063,774 N513Y probably damaging Het
Trim58 C T 11: 58,640,466 probably benign Het
Trim72 T C 7: 128,004,532 C17R probably damaging Het
Ttc3 T C 16: 94,467,926 C1956R probably damaging Het
Vmn1r211 G T 13: 22,852,209 T96N possibly damaging Het
Vmn1r211 C A 13: 22,852,206 S97I probably damaging Het
Vmn1r211 T A 13: 22,852,207 S97C probably damaging Het
Vmn2r66 A T 7: 84,995,415 S596T probably benign Het
Zfp609 A G 9: 65,704,320 S454P possibly damaging Het
Other mutations in Ppp5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02302:Ppp5c APN 7 17008630 missense possibly damaging 0.87
IGL02831:Ppp5c APN 7 17008645 missense probably damaging 1.00
IGL02950:Ppp5c APN 7 17006910 missense probably benign 0.00
Persephone UTSW 7 17022443 missense probably benign 0.01
R0078:Ppp5c UTSW 7 17027725 missense probably benign 0.09
R0366:Ppp5c UTSW 7 17022583 nonsense probably null
R1102:Ppp5c UTSW 7 17022443 missense probably benign 0.01
R1511:Ppp5c UTSW 7 17009982 missense probably damaging 1.00
R1518:Ppp5c UTSW 7 17009936 missense probably damaging 0.97
R1714:Ppp5c UTSW 7 17008703 missense probably benign 0.01
R1754:Ppp5c UTSW 7 17005310 missense probably benign 0.20
R2380:Ppp5c UTSW 7 17006115 missense probably damaging 1.00
R2431:Ppp5c UTSW 7 17015425 missense probably damaging 0.99
R4854:Ppp5c UTSW 7 17009022 missense probably benign 0.00
R4974:Ppp5c UTSW 7 17009936 missense probably damaging 0.97
R5303:Ppp5c UTSW 7 17005284 missense probably benign
R5626:Ppp5c UTSW 7 17027704 missense probably benign
R5785:Ppp5c UTSW 7 17027691 critical splice donor site probably null
R6059:Ppp5c UTSW 7 17027907 unclassified probably benign
R6855:Ppp5c UTSW 7 17006966 missense possibly damaging 0.95
R7760:Ppp5c UTSW 7 17006349 missense probably damaging 1.00
R7885:Ppp5c UTSW 7 17006186 missense possibly damaging 0.86
R7922:Ppp5c UTSW 7 17027800 missense possibly damaging 0.72
R8113:Ppp5c UTSW 7 17009007 missense probably benign
R8170:Ppp5c UTSW 7 17007146 missense probably damaging 0.99
X0026:Ppp5c UTSW 7 17007110 missense possibly damaging 0.95
Posted On2015-12-18