Incidental Mutation 'R0883:Ppp6r1'
ID 80791
Institutional Source Beutler Lab
Gene Symbol Ppp6r1
Ensembl Gene ENSMUSG00000052296
Gene Name protein phosphatase 6, regulatory subunit 1
Synonyms B430201G11Rik, Saps1, Pp6r1, 2010309P17Rik
MMRRC Submission 039050-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R0883 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4634494-4661949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4642709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 545 (E545G)
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: E545G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: E545G

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
Meta Mutation Damage Score 0.1107 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 98% (148/151)
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: 150 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,632 (GRCm39) L1607P probably damaging Het
1700016H13Rik T C 5: 103,796,687 (GRCm39) *118W probably null Het
4930595M18Rik G T X: 80,464,537 (GRCm39) T390N possibly damaging Het
Abca13 C T 11: 9,241,238 (GRCm39) Q1034* probably null Het
Acsbg3 A T 17: 57,190,835 (GRCm39) N468Y probably benign Het
Adgra3 T C 5: 50,118,065 (GRCm39) H1161R probably damaging Het
Aff1 T C 5: 103,974,004 (GRCm39) probably benign Het
Agap2 A G 10: 126,927,571 (GRCm39) T1131A possibly damaging Het
Ankrd12 A G 17: 66,292,127 (GRCm39) V1102A probably benign Het
Ankrd54 A T 15: 78,946,931 (GRCm39) C23S probably damaging Het
Anxa10 C T 8: 62,531,001 (GRCm39) V70I probably benign Het
Asap3 T C 4: 135,961,636 (GRCm39) probably benign Het
Asb13 T C 13: 3,695,052 (GRCm39) probably null Het
Atp6v1a A T 16: 43,922,055 (GRCm39) probably benign Het
Atp8b1 T G 18: 64,697,612 (GRCm39) I411L probably benign Het
Baiap3 T A 17: 25,468,075 (GRCm39) N313I probably damaging Het
Bok T C 1: 93,614,209 (GRCm39) I14T probably benign Het
Bri3bp T A 5: 125,518,808 (GRCm39) probably null Het
C2cd2l A G 9: 44,227,499 (GRCm39) L186P probably damaging Het
Cadm2 A T 16: 66,679,702 (GRCm39) C44S probably damaging Het
Capn11 T C 17: 45,949,807 (GRCm39) probably benign Het
Carm1 T A 9: 21,480,887 (GRCm39) probably benign Het
Ccdc27 T C 4: 154,120,941 (GRCm39) E285G unknown Het
Cct3 T A 3: 88,220,864 (GRCm39) D298E probably damaging Het
Cd59b T A 2: 103,911,331 (GRCm39) probably benign Het
Cdh2 T C 18: 16,762,633 (GRCm39) N437S probably benign Het
Celsr3 T A 9: 108,719,832 (GRCm39) I2470N probably damaging Het
Cfap100 G A 6: 90,392,888 (GRCm39) probably benign Het
Cfap119 T C 7: 127,184,034 (GRCm39) E261G probably damaging Het
Cfap45 A T 1: 172,359,756 (GRCm39) R98S possibly damaging Het
Cfap54 T A 10: 92,706,531 (GRCm39) H2757L unknown Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Cntn4 A T 6: 106,644,501 (GRCm39) probably benign Het
Cstf2t A T 19: 31,062,026 (GRCm39) M521L probably benign Het
Daam2 A T 17: 49,805,911 (GRCm39) probably benign Het
Ddias A T 7: 92,508,545 (GRCm39) W457R probably benign Het
Ddr2 C T 1: 169,822,198 (GRCm39) V417I probably benign Het
Dhx57 T C 17: 80,577,800 (GRCm39) T570A probably damaging Het
Dmp1 A G 5: 104,355,496 (GRCm39) E32G possibly damaging Het
Dtymk C T 1: 93,729,510 (GRCm39) V14M possibly damaging Het
Dync2li1 G A 17: 84,956,699 (GRCm39) M286I probably benign Het
Eea1 G A 10: 95,857,529 (GRCm39) D664N possibly damaging Het
Esp6 G T 17: 40,876,287 (GRCm39) V112L probably benign Het
Fam83h G T 15: 75,878,018 (GRCm39) Q127K probably damaging Het
Gabbr2 G A 4: 46,677,474 (GRCm39) T802I probably benign Het
Gart C A 16: 91,420,291 (GRCm39) D851Y possibly damaging Het
Gemin6 T A 17: 80,535,524 (GRCm39) H161Q probably damaging Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Gm5941 G A X: 91,533,817 (GRCm39) A62T possibly damaging Het
Gng2 G T 14: 19,941,363 (GRCm39) D26E probably benign Het
Gpr33 A G 12: 52,070,418 (GRCm39) V207A probably benign Het
Gstm3 T A 3: 107,873,586 (GRCm39) probably benign Het
Havcr1 T C 11: 46,643,259 (GRCm39) C60R probably damaging Het
Hspg2 T C 4: 137,268,751 (GRCm39) S2157P probably benign Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Igsf8 C A 1: 172,143,826 (GRCm39) A56D possibly damaging Het
Kat6a G T 8: 23,352,230 (GRCm39) A5S probably damaging Het
Kctd16 A G 18: 40,663,828 (GRCm39) E319G probably damaging Het
Kmo T C 1: 175,474,706 (GRCm39) V157A possibly damaging Het
Lrp5 T A 19: 3,655,308 (GRCm39) I1071F probably damaging Het
Lrrc17 A G 5: 21,766,276 (GRCm39) T253A probably benign Het
Mast2 T A 4: 116,168,964 (GRCm39) H769L probably damaging Het
Mast4 T C 13: 102,990,408 (GRCm39) K50E probably damaging Het
Mbd5 A G 2: 49,146,701 (GRCm39) T304A possibly damaging Het
Mbp T C 18: 82,590,995 (GRCm39) S73P probably damaging Het
Mc5r T A 18: 68,472,163 (GRCm39) V174E probably damaging Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Med13l T C 5: 118,809,067 (GRCm39) probably benign Het
Minar1 T C 9: 89,484,470 (GRCm39) H309R probably benign Het
Mlh3 C G 12: 85,282,488 (GRCm39) A1382P possibly damaging Het
Mpdz T C 4: 81,278,228 (GRCm39) probably benign Het
Muc5ac A G 7: 141,350,002 (GRCm39) T582A possibly damaging Het
Nalcn A G 14: 123,702,152 (GRCm39) F453S probably damaging Het
Nrap T A 19: 56,333,906 (GRCm39) M902L probably damaging Het
Nup85 C T 11: 115,459,196 (GRCm39) R100* probably null Het
Nxf1 T G 19: 8,741,955 (GRCm39) N296K probably damaging Het
Ogg1 A G 6: 113,305,381 (GRCm39) T65A probably damaging Het
Ogt A G X: 100,687,805 (GRCm39) probably benign Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Or51e1 T A 7: 102,359,202 (GRCm39) H245Q probably damaging Het
Or56b1b T A 7: 108,164,483 (GRCm39) N173I probably benign Het
Ovol2 T C 2: 144,173,710 (GRCm39) D24G probably damaging Het
Pabpc1 A G 15: 36,599,298 (GRCm39) probably benign Het
Pak6 T C 2: 118,524,168 (GRCm39) L441P probably damaging Het
Pappa T A 4: 65,107,552 (GRCm39) C654* probably null Het
Paqr6 T A 3: 88,273,298 (GRCm39) S97T probably damaging Het
Parp14 T C 16: 35,678,888 (GRCm39) N360S probably benign Het
Pclo G T 5: 14,727,873 (GRCm39) G2244* probably null Het
Pdzrn3 A T 6: 101,132,903 (GRCm39) probably null Het
Pes1 T C 11: 3,925,557 (GRCm39) M220T probably damaging Het
Phip A T 9: 82,758,274 (GRCm39) V1473E probably benign Het
Pkd2l2 T A 18: 34,563,321 (GRCm39) probably null Het
Plch1 T C 3: 63,660,677 (GRCm39) D302G probably damaging Het
Plekhh2 A G 17: 84,925,459 (GRCm39) T1419A probably benign Het
Ppara A T 15: 85,682,372 (GRCm39) E356V probably damaging Het
Ppp1r37 G A 7: 19,266,102 (GRCm39) P555S probably benign Het
Proser3 G A 7: 30,240,124 (GRCm39) H327Y probably damaging Het
Prss43 T A 9: 110,658,576 (GRCm39) I292N probably damaging Het
Pwwp3b T A X: 138,136,444 (GRCm39) D327E probably damaging Het
Pygl G C 12: 70,253,178 (GRCm39) N271K probably damaging Het
Rassf7 T A 7: 140,796,903 (GRCm39) probably benign Het
Rfx2 T C 17: 57,110,722 (GRCm39) Y88C probably damaging Het
Rpl6 T C 5: 121,346,541 (GRCm39) V214A probably benign Het
Rspo1 T A 4: 124,885,225 (GRCm39) probably null Het
Sav1 A C 12: 70,012,979 (GRCm39) L366V probably benign Het
Sema3b T G 9: 107,481,355 (GRCm39) T52P possibly damaging Het
Senp6 A G 9: 80,023,841 (GRCm39) D40G probably damaging Het
Sh3pxd2a A G 19: 47,256,646 (GRCm39) S719P probably damaging Het
Shank1 C T 7: 44,001,718 (GRCm39) R1146W unknown Het
Slc34a3 G T 2: 25,121,245 (GRCm39) D307E probably benign Het
Slc35b3 T C 13: 39,121,251 (GRCm39) I330V probably benign Het
Slc4a10 G A 2: 62,073,742 (GRCm39) C268Y probably benign Het
Slco6d1 A G 1: 98,349,124 (GRCm39) E65G probably benign Het
Slit2 A G 5: 48,402,915 (GRCm39) probably benign Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Snap47 A G 11: 59,329,326 (GRCm39) probably benign Het
Snrnp25 G A 11: 32,156,960 (GRCm39) V15I probably damaging Het
Spns2 T C 11: 72,345,223 (GRCm39) Y449C probably damaging Het
Stab2 T A 10: 86,760,314 (GRCm39) probably benign Het
Strip1 C A 3: 107,521,929 (GRCm39) D750Y probably damaging Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Tbc1d2 T A 4: 46,609,003 (GRCm39) K745* probably null Het
Tctn1 T C 5: 122,402,207 (GRCm39) T76A probably damaging Het
Tesl1 A T X: 23,773,290 (GRCm39) I264F probably benign Het
Tfpi T C 2: 84,273,664 (GRCm39) probably benign Het
Timm44 A T 8: 4,316,592 (GRCm39) H317Q probably benign Het
Tnfaip1 A T 11: 78,420,840 (GRCm39) probably benign Het
Tnpo3 A T 6: 29,554,992 (GRCm39) probably benign Het
Top3b T C 16: 16,697,301 (GRCm39) probably benign Het
Trak1 T A 9: 121,282,351 (GRCm39) M410K possibly damaging Het
Trpm3 C A 19: 22,956,018 (GRCm39) P1160Q probably damaging Het
Tyk2 T A 9: 21,022,433 (GRCm39) T799S possibly damaging Het
Ubfd1 G A 7: 121,666,714 (GRCm39) probably benign Het
Unc13a G A 8: 72,094,817 (GRCm39) R1272* probably null Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Urb2 C T 8: 124,757,709 (GRCm39) Q1139* probably null Het
Vmn2r66 A T 7: 84,657,070 (GRCm39) S112T probably benign Het
Vmn2r71 A T 7: 85,272,842 (GRCm39) D552V probably benign Het
Vmn2r76 A G 7: 85,877,904 (GRCm39) Y498H probably benign Het
Vmn2r84 A C 10: 130,226,984 (GRCm39) W285G probably damaging Het
Vps72 G T 3: 95,029,894 (GRCm39) L304F probably damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Yaf2 T C 15: 93,183,417 (GRCm39) K131R probably damaging Het
Zfp141 A T 7: 42,125,480 (GRCm39) Y331N possibly damaging Het
Zfp324 G T 7: 12,704,951 (GRCm39) C380F probably damaging Het
Zfp521 T C 18: 13,978,119 (GRCm39) T765A probably benign Het
Zfp616 A T 11: 73,976,500 (GRCm39) H923L probably damaging Het
Zfpm1 C T 8: 123,062,585 (GRCm39) T548M probably damaging Het
Zp2 A T 7: 119,742,799 (GRCm39) probably benign 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
IGL02887:Ppp6r1 APN 7 4,645,211 (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
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
Predicted Primers PCR Primer
(F):5'- GGTCAATGAAGGCTGAGGTCATGC -3'
(R):5'- CAATGCTGAACAACTGGGACAACTG -3'

Sequencing Primer
(F):5'- CATGCGTTGCATCTGGAAGTC -3'
(R):5'- AAGCATTTGTGTCAGGACCC -3'
Posted On 2013-11-07