Incidental Mutation 'IGL02697:Ppp6r2'
ID303965
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp6r2
Ensembl Gene ENSMUSG00000036561
Gene Nameprotein phosphatase 6, regulatory subunit 2
SynonymsPp6r2, Saps2, 1110033O10Rik, 8430411H09Rik, B230107H12Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.148) question?
Stock #IGL02697
Quality Score
Status
Chromosome15
Chromosomal Location89211553-89287010 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89256755 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 107 (Y107C)
Ref Sequence ENSEMBL: ENSMUSP00000154087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088788] [ENSMUST00000226221] [ENSMUST00000227951] [ENSMUST00000228284]
Predicted Effect probably benign
Transcript: ENSMUST00000088788
AA Change: Y107C

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000086167
Gene: ENSMUSG00000036561
AA Change: Y107C

DomainStartEndE-ValueType
Pfam:SAPS 128 365 1.7e-73 PFAM
Pfam:SAPS 361 534 2.4e-47 PFAM
low complexity region 606 618 N/A INTRINSIC
low complexity region 788 802 N/A INTRINSIC
low complexity region 867 900 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226221
AA Change: Y88C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226875
Predicted Effect probably benign
Transcript: ENSMUST00000227951
Predicted Effect probably benign
Transcript: ENSMUST00000228284
AA Change: Y107C

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 is a regulatory subunit for the protein phosphatase-6 catalytic subunit (PPP6C; MIM 612725) (Stefansson and Brautigan, 2006 [PubMed 16769727]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 A T 4: 47,471,772 N345K probably damaging Het
Atp13a5 T A 16: 29,348,532 H151L probably benign Het
C2cd3 T C 7: 100,427,169 probably benign Het
Cep57l1 G T 10: 41,722,954 P212T possibly damaging Het
Coch G A 12: 51,597,038 A135T probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cul5 A G 9: 53,655,331 S134P probably benign Het
Cyp4f14 T C 17: 32,905,623 T485A probably damaging Het
Dennd3 T C 15: 73,524,236 F198S possibly damaging Het
Dennd5a C A 7: 109,894,781 A1239S probably damaging Het
Dhx8 T C 11: 101,754,781 I822T probably damaging Het
Dnah5 A T 15: 28,445,143 M4142L probably benign Het
Dyrk4 T A 6: 126,899,008 N88I possibly damaging Het
Emc1 T C 4: 139,352,644 F9L probably benign Het
Gga1 A G 15: 78,885,346 E173G probably damaging Het
H1fnt T C 15: 98,257,169 K33R probably benign Het
Hepacam2 A T 6: 3,476,036 H296Q possibly damaging Het
Ipo9 G T 1: 135,390,576 Q699K probably benign Het
Jmy A T 13: 93,459,701 Y473* probably null Het
Kdm5b A T 1: 134,588,773 probably benign Het
Kit A G 5: 75,607,259 S101G probably benign Het
Krtap4-9 T A 11: 99,785,748 V165E unknown Het
Lnpep T A 17: 17,553,193 M639L probably benign Het
Lrp10 C T 14: 54,469,697 P664S probably damaging Het
Nrde2 A T 12: 100,131,207 L778H probably damaging Het
Oat A T 7: 132,569,955 probably null Het
Pfkl A T 10: 77,999,918 S219T probably benign Het
Phtf1 C T 3: 103,997,563 A509V probably benign Het
Pigz T A 16: 31,944,759 probably null Het
Pltp T A 2: 164,840,526 Y344F probably benign Het
Ptprk A G 10: 28,575,618 D1034G possibly damaging Het
Rell1 C T 5: 63,927,011 V221I probably damaging Het
Skint5 A G 4: 113,479,713 F1429S probably benign Het
Slc22a28 T A 19: 8,117,127 T177S probably benign Het
Stxbp5 G T 10: 9,762,956 S1033* probably null Het
Tgs1 A G 4: 3,585,564 D147G probably benign Het
Thumpd3 T A 6: 113,067,295 N423K probably benign Het
Tns3 G T 11: 8,492,346 D672E probably benign Het
Vmn2r61 T A 7: 42,275,468 V482E possibly damaging Het
Vmn2r72 G T 7: 85,738,671 Q562K probably benign Het
Zan T C 5: 137,400,548 T4185A unknown Het
Other mutations in Ppp6r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Ppp6r2 APN 15 89285813 missense probably benign 0.44
IGL00480:Ppp6r2 APN 15 89265249 splice site probably benign
IGL01061:Ppp6r2 APN 15 89286015 splice site probably benign
IGL01116:Ppp6r2 APN 15 89281989 missense probably damaging 1.00
IGL01317:Ppp6r2 APN 15 89285928 missense possibly damaging 0.62
IGL01947:Ppp6r2 APN 15 89278726 missense probably damaging 1.00
IGL01969:Ppp6r2 APN 15 89275510 missense probably damaging 0.99
IGL01999:Ppp6r2 APN 15 89269952 missense probably benign 0.09
IGL02634:Ppp6r2 APN 15 89275477 nonsense probably null
IGL02964:Ppp6r2 APN 15 89259175 missense probably damaging 1.00
IGL03107:Ppp6r2 APN 15 89268545 missense probably damaging 0.98
IGL03195:Ppp6r2 APN 15 89268555 missense possibly damaging 0.50
R0020:Ppp6r2 UTSW 15 89259139 missense probably damaging 1.00
R0020:Ppp6r2 UTSW 15 89259139 missense probably damaging 1.00
R0183:Ppp6r2 UTSW 15 89285787 missense probably damaging 0.99
R0745:Ppp6r2 UTSW 15 89265242 critical splice donor site probably null
R0835:Ppp6r2 UTSW 15 89268582 missense possibly damaging 0.90
R0959:Ppp6r2 UTSW 15 89274176 missense possibly damaging 0.81
R1661:Ppp6r2 UTSW 15 89253051 missense possibly damaging 0.96
R1867:Ppp6r2 UTSW 15 89281938 missense probably benign 0.01
R2081:Ppp6r2 UTSW 15 89282129 missense probably benign 0.01
R2102:Ppp6r2 UTSW 15 89278746 missense probably damaging 1.00
R2291:Ppp6r2 UTSW 15 89275487 missense probably damaging 1.00
R2900:Ppp6r2 UTSW 15 89281995 missense probably damaging 1.00
R3805:Ppp6r2 UTSW 15 89265639 missense probably benign 0.30
R3965:Ppp6r2 UTSW 15 89259114 missense probably benign 0.20
R4374:Ppp6r2 UTSW 15 89265158 missense probably damaging 1.00
R4901:Ppp6r2 UTSW 15 89259069 missense possibly damaging 0.88
R5055:Ppp6r2 UTSW 15 89282949 missense probably benign 0.01
R5668:Ppp6r2 UTSW 15 89280399 missense probably damaging 1.00
R5739:Ppp6r2 UTSW 15 89259073 missense probably benign 0.02
R6026:Ppp6r2 UTSW 15 89282910 missense probably benign 0.02
R6058:Ppp6r2 UTSW 15 89253252 critical splice donor site probably null
R6488:Ppp6r2 UTSW 15 89268538 missense probably benign 0.12
R6631:Ppp6r2 UTSW 15 89253255 splice site probably null
R6633:Ppp6r2 UTSW 15 89253255 splice site probably null
R6744:Ppp6r2 UTSW 15 89256661 critical splice acceptor site probably null
R7149:Ppp6r2 UTSW 15 89262396 missense probably damaging 1.00
R7754:Ppp6r2 UTSW 15 89256701 missense probably benign 0.12
R8326:Ppp6r2 UTSW 15 89280447 missense probably benign 0.05
R8812:Ppp6r2 UTSW 15 89283072 missense probably benign
R8861:Ppp6r2 UTSW 15 89259165 missense probably damaging 1.00
R8960:Ppp6r2 UTSW 15 89253036 start codon destroyed probably null 1.00
Posted On2015-04-16