Incidental Mutation 'IGL01883:Ppp6r1'
ID179065
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp6r1
Ensembl Gene ENSMUSG00000052296
Gene Nameprotein phosphatase 6, regulatory subunit 1
SynonymsB430201G11Rik, Saps1, 2010309P17Rik, Pp6r1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.185) question?
Stock #IGL01883
Quality Score
Status
Chromosome7
Chromosomal Location4631495-4659019 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 4639987 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064099] [ENSMUST00000205374] [ENSMUST00000206532]
Predicted Effect probably null
Transcript: ENSMUST00000064099
SMART Domains Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
Pfam:SAPS 128 378 4.6e-69 PFAM
Pfam:SAPS 372 519 1.8e-39 PFAM
low complexity region 525 536 N/A INTRINSIC
low complexity region 618 639 N/A INTRINSIC
low complexity region 669 681 N/A INTRINSIC
low complexity region 692 707 N/A INTRINSIC
low complexity region 842 855 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206391
Predicted Effect probably benign
Transcript: ENSMUST00000206532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206768
Predicted Effect probably benign
Transcript: ENSMUST00000206966
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 SAPS1, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS1 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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik G A 18: 12,178,239 V125I probably benign Het
Aox3 C A 1: 58,138,283 P219Q probably damaging Het
Arl2 A G 19: 6,137,491 L109P probably damaging Het
Bhlha9 T C 11: 76,673,098 S184P probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
C2cd3 G A 7: 100,374,486 R93H possibly damaging Het
Cdcp1 A G 9: 123,183,598 F295L probably benign Het
Cpsf7 A T 19: 10,526,023 D6V possibly damaging Het
Fbxw28 A T 9: 109,328,325 V285E probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm18025 T A 12: 34,290,693 I134F probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Kif11 A C 19: 37,384,343 T60P probably benign Het
Myo7b T C 18: 31,998,151 D521G probably damaging Het
Polg A G 7: 79,458,318 L583P probably damaging Het
Snap91 A T 9: 86,775,612 W509R probably damaging Het
Tmem79 T C 3: 88,329,838 N353D probably damaging Het
Other mutations in Ppp6r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02232:Ppp6r1 APN 7 4633342 missense probably damaging 0.98
IGL02674:Ppp6r1 APN 7 4646813 missense probably damaging 1.00
IGL02887:Ppp6r1 APN 7 4642212 missense probably damaging 1.00
IGL02990:Ppp6r1 APN 7 4643023 missense possibly damaging 0.83
IGL03135:Ppp6r1 APN 7 4642160 missense possibly damaging 0.90
IGL03399:Ppp6r1 APN 7 4643252 missense probably damaging 1.00
R0375:Ppp6r1 UTSW 7 4633287 missense probably benign 0.00
R0412:Ppp6r1 UTSW 7 4642214 missense probably damaging 0.98
R0760:Ppp6r1 UTSW 7 4639723 missense probably benign 0.00
R0883:Ppp6r1 UTSW 7 4639710 missense possibly damaging 0.89
R1478:Ppp6r1 UTSW 7 4640378 splice site probably null
R1515:Ppp6r1 UTSW 7 4643258 missense probably damaging 0.97
R1768:Ppp6r1 UTSW 7 4633692 critical splice donor site probably null
R1772:Ppp6r1 UTSW 7 4642031 missense probably benign 0.00
R4017:Ppp6r1 UTSW 7 4633744 missense probably benign 0.07
R4519:Ppp6r1 UTSW 7 4641046 unclassified probably null
R4795:Ppp6r1 UTSW 7 4641054 missense possibly damaging 0.66
R4849:Ppp6r1 UTSW 7 4643207 missense probably damaging 1.00
R5214:Ppp6r1 UTSW 7 4643177 missense probably benign 0.00
R5416:Ppp6r1 UTSW 7 4639748 missense possibly damaging 0.96
R5643:Ppp6r1 UTSW 7 4633772 missense probably benign 0.30
R5765:Ppp6r1 UTSW 7 4642208 missense possibly damaging 0.67
R6126:Ppp6r1 UTSW 7 4643377 missense possibly damaging 0.48
R6854:Ppp6r1 UTSW 7 4632396 missense probably benign 0.02
R6932:Ppp6r1 UTSW 7 4633292 missense possibly damaging 0.84
R7011:Ppp6r1 UTSW 7 4646826 missense probably damaging 1.00
R7486:Ppp6r1 UTSW 7 4639900 missense probably benign 0.17
R7500:Ppp6r1 UTSW 7 4636130 missense probably benign 0.04
X0062:Ppp6r1 UTSW 7 4640307 critical splice donor site probably null
Posted On2014-05-07