Incidental Mutation 'IGL02990:Ppp6r1'
ID 406897
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp6r1
Ensembl Gene ENSMUSG00000052296
Gene Name protein phosphatase 6, regulatory subunit 1
Synonyms B430201G11Rik, Saps1, 2010309P17Rik, Pp6r1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock # IGL02990
Quality Score
Status
Chromosome 7
Chromosomal Location 4631495-4659019 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4643023 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 199 (I199T)
Ref Sequence ENSEMBL: ENSMUSP00000066736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064099] [ENSMUST00000205374] [ENSMUST00000206532]
AlphaFold Q7TSI3
Predicted Effect possibly damaging
Transcript: ENSMUST00000064099
AA Change: I199T

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: I199T

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 possibly damaging
Transcript: ENSMUST00000206532
AA Change: I209T

PolyPhen 2 Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206768
Predicted Effect unknown
Transcript: ENSMUST00000206966
AA Change: I60T
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G T 11: 69,163,206 V205F probably benign Het
Ampd3 T C 7: 110,807,963 probably benign Het
Arhgef18 G A 8: 3,444,904 V388I probably benign Het
Atp6v1c2 C T 12: 17,294,740 V169I probably damaging Het
Ccdc88b G T 19: 6,847,409 L1328I probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cluh G A 11: 74,667,765 probably null Het
Cpsf7 C A 19: 10,531,795 N23K probably benign Het
Cyp4x1 A T 4: 115,121,749 F191L probably benign Het
Dcn A G 10: 97,509,973 T216A probably benign Het
Dirc2 C A 16: 35,735,491 V200F possibly damaging Het
Drosha C T 15: 12,827,267 probably benign Het
Foxn4 A G 5: 114,272,989 S24P probably damaging Het
Gm11733 A T 11: 117,486,983 probably null Het
Hapln1 A C 13: 89,601,606 Y90S probably benign Het
Igf2r C A 17: 12,710,746 probably benign Het
Jade2 A G 11: 51,831,247 probably benign Het
Kcnh7 A T 2: 62,705,986 L1084H probably benign Het
Kif1a T C 1: 93,039,263 D1155G probably damaging Het
Llgl2 A G 11: 115,854,333 M958V probably benign Het
Lrp2 A G 2: 69,441,396 V4064A possibly damaging Het
Mau2 A G 8: 70,022,255 probably benign Het
Mllt10 T C 2: 18,123,711 probably benign Het
Myo15 A G 11: 60,479,440 T1009A probably benign Het
Myo6 T C 9: 80,276,403 probably null Het
Neil2 G T 14: 63,191,809 H12N possibly damaging Het
Nrde2 T C 12: 100,142,096 E412G probably damaging Het
Olfr114 C T 17: 37,589,668 M228I probably benign Het
Olfr1220 T C 2: 89,097,129 Y266C possibly damaging Het
Patl2 T G 2: 122,124,497 probably null Het
Pkhd1 T C 1: 20,522,963 H1642R possibly damaging Het
Prom2 T A 2: 127,528,814 T817S probably benign Het
Slc9b1 A G 3: 135,394,983 probably null Het
Sv2c A T 13: 96,088,378 I141K probably damaging Het
Tas2r139 A T 6: 42,141,104 I57F probably damaging Het
Tep1 A G 14: 50,868,246 S106P possibly damaging Het
Tnni3k T C 3: 154,957,758 D319G probably benign Het
Tom1l2 C T 11: 60,230,236 D461N probably damaging Het
Ugt1a10 T C 1: 88,055,879 L133S probably damaging Het
Usf2 T G 7: 30,955,307 Q161P probably benign Het
Vmn1r15 A G 6: 57,258,608 T154A probably benign Het
Vmn2r95 C A 17: 18,452,036 Y678* probably null Het
Other mutations in Ppp6r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01883:Ppp6r1 APN 7 4639987 splice site probably null
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
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 splice site 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
R7982:Ppp6r1 UTSW 7 4643158 missense probably benign 0.00
R8769:Ppp6r1 UTSW 7 4641290 missense probably benign
X0062:Ppp6r1 UTSW 7 4640307 critical splice donor site probably null
Posted On 2016-08-02