Incidental Mutation 'IGL02887:Ppp6r1'
ID 363805
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, Pp6r1, 2010309P17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # IGL02887
Quality Score
Status
Chromosome 7
Chromosomal Location 4634494-4661949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4645211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 80 (I80F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064099] [ENSMUST00000205374] [ENSMUST00000206532]
AlphaFold Q7TSI3
Predicted Effect possibly damaging
Transcript: ENSMUST00000064099
AA Change: I219F

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: I219F

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 damaging
Transcript: ENSMUST00000206532
AA Change: I229F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206768
Predicted Effect probably damaging
Transcript: ENSMUST00000206966
AA Change: I80F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,168 (GRCm39) Y69H probably damaging Het
Afap1l2 A T 19: 56,908,995 (GRCm39) S310R probably damaging Het
Aldh7a1 A G 18: 56,675,288 (GRCm39) probably benign Het
Anxa8 T A 14: 33,818,481 (GRCm39) probably null Het
Ap1ar T C 3: 127,602,192 (GRCm39) E282G probably damaging Het
Arl6ip6 T G 2: 53,092,939 (GRCm39) S155A probably benign Het
Armc9 T C 1: 86,092,557 (GRCm39) F107S probably damaging Het
Ash1l C A 3: 88,891,488 (GRCm39) D1122E probably benign Het
Atp2b4 T A 1: 133,656,512 (GRCm39) I713F probably damaging Het
BC005624 A C 2: 30,863,317 (GRCm39) probably benign Het
Calcrl T C 2: 84,169,586 (GRCm39) D365G probably benign Het
Ccdc110 A G 8: 46,396,221 (GRCm39) N704S probably benign Het
Ccr10 G T 11: 101,065,492 (GRCm39) L13I probably benign Het
Cfap52 A G 11: 67,844,341 (GRCm39) Y125H probably damaging Het
Cnr2 C A 4: 135,644,936 (GRCm39) T338K possibly damaging Het
Cntn2 T A 1: 132,444,308 (GRCm39) D935V probably damaging Het
Cog7 T C 7: 121,543,067 (GRCm39) K448R possibly damaging Het
Csnk1g2 G A 10: 80,474,369 (GRCm39) D197N probably damaging Het
Cyp2e1 T A 7: 140,343,824 (GRCm39) S21T probably damaging Het
Dcaf11 T C 14: 55,801,592 (GRCm39) F187L probably damaging Het
Dmd T A X: 82,922,110 (GRCm39) F1460Y probably benign Het
Dnah11 G A 12: 117,874,775 (GRCm39) A4030V probably damaging Het
Dnah7a A G 1: 53,561,519 (GRCm39) V2046A possibly damaging Het
Dnajc6 T C 4: 101,496,497 (GRCm39) I820T probably damaging Het
Dsel T C 1: 111,788,462 (GRCm39) D691G possibly damaging Het
Fbp1 T A 13: 63,016,894 (GRCm39) M203L probably benign Het
Fndc1 T C 17: 7,992,470 (GRCm39) T409A unknown Het
Golgb1 T G 16: 36,746,211 (GRCm39) L2930R probably damaging Het
Htr2a A G 14: 74,882,583 (GRCm39) T190A probably benign Het
Klra4 C T 6: 130,021,033 (GRCm39) C254Y probably damaging Het
Large1 A T 8: 73,858,667 (GRCm39) V67E probably benign Het
Lins1 T C 7: 66,363,931 (GRCm39) S609P probably damaging Het
Magi3 T C 3: 104,002,473 (GRCm39) E156G probably damaging Het
Mdh1b A G 1: 63,754,523 (GRCm39) probably benign Het
Mfsd6 T C 1: 52,748,037 (GRCm39) D276G probably benign Het
Myh9 T A 15: 77,680,220 (GRCm39) K185* probably null Het
Myof T C 19: 37,909,227 (GRCm39) probably null Het
Naip2 T G 13: 100,298,020 (GRCm39) Y672S possibly damaging Het
Nbeal1 A G 1: 60,326,603 (GRCm39) probably benign Het
Nbeal2 T A 9: 110,457,344 (GRCm39) H2273L probably damaging Het
Neb T C 2: 52,090,733 (GRCm39) K1346E possibly damaging Het
Nfatc2 T C 2: 168,346,370 (GRCm39) D908G probably damaging Het
Nlgn2 T C 11: 69,718,080 (GRCm39) N375S probably benign Het
Nova1 G T 12: 46,767,505 (GRCm39) Q139K unknown Het
Opa3 A T 7: 18,962,507 (GRCm39) Q47L probably damaging Het
Or10g7 T A 9: 39,905,109 (GRCm39) M1K probably null Het
Or2t47 A G 11: 58,442,987 (GRCm39) L26P probably damaging Het
Or6c205 T A 10: 129,086,794 (GRCm39) Y130* probably null Het
Pacs1 A T 19: 5,185,138 (GRCm39) probably benign Het
Pappa2 T A 1: 158,609,829 (GRCm39) H1544L probably damaging Het
Pax8 A G 2: 24,334,627 (GRCm39) S48P probably damaging Het
Pdilt T C 7: 119,097,272 (GRCm39) N70S possibly damaging Het
Poldip3 T C 15: 83,013,469 (GRCm39) probably benign Het
Pycr2 T A 1: 180,732,304 (GRCm39) probably null Het
Rapgef2 C T 3: 78,976,187 (GRCm39) probably benign Het
Rbm44 T A 1: 91,080,902 (GRCm39) D363E probably damaging Het
Rnf213 A T 11: 119,318,336 (GRCm39) I1046F probably damaging Het
Ryr2 A G 13: 11,606,155 (GRCm39) S4476P probably damaging Het
Scara5 G A 14: 66,000,278 (GRCm39) D483N unknown Het
Scmh1 T A 4: 120,325,586 (GRCm39) F101Y probably damaging Het
Sgo2a T A 1: 58,055,511 (GRCm39) V565E probably damaging Het
Simc1 T C 13: 54,673,071 (GRCm39) M473T probably benign Het
Skint6 T A 4: 113,095,381 (GRCm39) R93* probably null Het
Skint7 T C 4: 111,839,375 (GRCm39) V223A possibly damaging Het
Slc25a2 T C 18: 37,770,939 (GRCm39) I197V probably benign Het
Slit2 A G 5: 48,374,816 (GRCm39) T361A probably benign Het
Sugp1 G A 8: 70,522,776 (GRCm39) G492D probably damaging Het
Svep1 C T 4: 58,145,301 (GRCm39) G388D probably damaging Het
Tbpl2 G T 2: 23,983,888 (GRCm39) A183E probably damaging Het
Tcerg1l G T 7: 137,831,619 (GRCm39) P453T probably damaging Het
Tdpoz2 T C 3: 93,559,046 (GRCm39) T309A probably benign Het
Thbs4 T A 13: 92,927,306 (GRCm39) Y61F probably benign Het
Tmem117 C A 15: 94,992,656 (GRCm39) P439T probably damaging Het
Tmem151a A G 19: 5,132,993 (GRCm39) V71A probably benign Het
Tmem268 G T 4: 63,486,691 (GRCm39) probably benign Het
Tmem43 T A 6: 91,454,356 (GRCm39) Y48N possibly damaging Het
Tmigd1 T C 11: 76,804,812 (GRCm39) V217A probably benign Het
Tmprss11g A T 5: 86,645,188 (GRCm39) probably benign Het
Tsn T C 1: 118,237,551 (GRCm39) I38V probably benign Het
Ttc41 A T 10: 86,569,518 (GRCm39) Y632F probably damaging Het
Vmn2r117 C T 17: 23,694,552 (GRCm39) probably benign Het
Vmn2r12 A T 5: 109,238,351 (GRCm39) I463N probably benign Het
Wdsub1 T A 2: 59,683,176 (GRCm39) N466I probably damaging Het
Zdhhc21 A T 4: 82,762,427 (GRCm39) I56N probably benign Het
Zfand4 A G 6: 116,250,617 (GRCm39) T16A possibly damaging Het
Zmym4 T C 4: 126,842,268 (GRCm39) E15G probably damaging Het
Other mutations in Ppp6r1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01883:Ppp6r1 APN 7 4,642,986 (GRCm39) splice site probably null
IGL02232:Ppp6r1 APN 7 4,636,341 (GRCm39) missense probably damaging 0.98
IGL02674:Ppp6r1 APN 7 4,649,812 (GRCm39) missense probably damaging 1.00
IGL02990:Ppp6r1 APN 7 4,646,022 (GRCm39) missense possibly damaging 0.83
IGL03135:Ppp6r1 APN 7 4,645,159 (GRCm39) missense possibly damaging 0.90
IGL03399:Ppp6r1 APN 7 4,646,251 (GRCm39) missense probably damaging 1.00
R0375:Ppp6r1 UTSW 7 4,636,286 (GRCm39) missense probably benign 0.00
R0412:Ppp6r1 UTSW 7 4,645,213 (GRCm39) missense probably damaging 0.98
R0760:Ppp6r1 UTSW 7 4,642,722 (GRCm39) missense probably benign 0.00
R0883:Ppp6r1 UTSW 7 4,642,709 (GRCm39) missense possibly damaging 0.89
R1478:Ppp6r1 UTSW 7 4,643,377 (GRCm39) splice site probably null
R1515:Ppp6r1 UTSW 7 4,646,257 (GRCm39) missense probably damaging 0.97
R1768:Ppp6r1 UTSW 7 4,636,691 (GRCm39) critical splice donor site probably null
R1772:Ppp6r1 UTSW 7 4,645,030 (GRCm39) missense probably benign 0.00
R4017:Ppp6r1 UTSW 7 4,636,743 (GRCm39) missense probably benign 0.07
R4519:Ppp6r1 UTSW 7 4,644,045 (GRCm39) splice site probably null
R4795:Ppp6r1 UTSW 7 4,644,053 (GRCm39) missense possibly damaging 0.66
R4849:Ppp6r1 UTSW 7 4,646,206 (GRCm39) missense probably damaging 1.00
R5214:Ppp6r1 UTSW 7 4,646,176 (GRCm39) missense probably benign 0.00
R5416:Ppp6r1 UTSW 7 4,642,747 (GRCm39) missense possibly damaging 0.96
R5643:Ppp6r1 UTSW 7 4,636,771 (GRCm39) missense probably benign 0.30
R5765:Ppp6r1 UTSW 7 4,645,207 (GRCm39) missense possibly damaging 0.67
R6126:Ppp6r1 UTSW 7 4,646,376 (GRCm39) missense possibly damaging 0.48
R6854:Ppp6r1 UTSW 7 4,635,395 (GRCm39) missense probably benign 0.02
R6932:Ppp6r1 UTSW 7 4,636,291 (GRCm39) missense possibly damaging 0.84
R7011:Ppp6r1 UTSW 7 4,649,825 (GRCm39) missense probably damaging 1.00
R7486:Ppp6r1 UTSW 7 4,642,899 (GRCm39) missense probably benign 0.17
R7500:Ppp6r1 UTSW 7 4,639,129 (GRCm39) missense probably benign 0.04
R7982:Ppp6r1 UTSW 7 4,646,157 (GRCm39) missense probably benign 0.00
R8769:Ppp6r1 UTSW 7 4,644,289 (GRCm39) missense probably benign
R9628:Ppp6r1 UTSW 7 4,636,112 (GRCm39) missense probably benign 0.01
X0062:Ppp6r1 UTSW 7 4,643,306 (GRCm39) critical splice donor site probably null
Posted On 2015-12-18