Incidental Mutation 'R5643:Ppp6r1'
ID 440849
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 043291-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R5643 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 4634494-4661949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 4636771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 679 (E679K)
Ref Sequence ENSEMBL: ENSMUSP00000066736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055085] [ENSMUST00000064099] [ENSMUST00000205360] [ENSMUST00000205402] [ENSMUST00000206610]
AlphaFold Q7TSI3
Predicted Effect probably benign
Transcript: ENSMUST00000055085
SMART Domains Protein: ENSMUSP00000060237
Gene: ENSMUSG00000045282

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Pfam:YhhN 47 217 1.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000064099
AA Change: E679K

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000066736
Gene: ENSMUSG00000052296
AA Change: E679K

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: ENSMUST00000205360
Predicted Effect probably benign
Transcript: ENSMUST00000205402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206768
Predicted Effect probably benign
Transcript: ENSMUST00000206610
Meta Mutation Damage Score 0.2305 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 94% (110/117)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak A G 19: 8,988,021 (GRCm39) K3102E possibly damaging Het
Akap13 T C 7: 75,351,902 (GRCm39) probably null Het
Akp3 A T 1: 87,055,485 (GRCm39) T511S unknown Het
Alkal2 T A 12: 30,934,889 (GRCm39) L36Q probably damaging Het
Arhgef17 A T 7: 100,529,218 (GRCm39) V523E probably damaging Het
Asah1 G T 8: 41,813,332 (GRCm39) T27K possibly damaging Het
Bag2 A G 1: 33,786,034 (GRCm39) V96A probably damaging Het
Bicd1 C T 6: 149,421,901 (GRCm39) A874V probably damaging Het
C4b T C 17: 34,961,391 (GRCm39) I189M probably benign Het
Calcr A G 6: 3,708,538 (GRCm39) I216T probably damaging Het
Cdk5rap2 T A 4: 70,184,970 (GRCm39) D1160V probably damaging Het
Cep128 A T 12: 91,315,625 (GRCm39) I87K probably damaging Het
Cep170b C G 12: 112,707,275 (GRCm39) H1256Q probably benign Het
Chd2 A T 7: 73,134,232 (GRCm39) V705E probably damaging Het
Clec12b T A 6: 129,356,923 (GRCm39) I172L probably benign Het
Cobl A T 11: 12,256,948 (GRCm39) probably benign Het
Col5a2 T A 1: 45,429,202 (GRCm39) D972V probably damaging Het
Csrp1 A T 1: 135,678,797 (GRCm39) N174I probably damaging Het
Dnah7a T A 1: 53,444,866 (GRCm39) H3946L probably benign Het
Dnajc21 A T 15: 10,462,001 (GRCm39) D133E probably benign Het
Dvl3 T A 16: 20,345,026 (GRCm39) I353N probably damaging Het
Elavl3 A T 9: 21,930,029 (GRCm39) S292T probably benign Het
Ephb2 T C 4: 136,498,923 (GRCm39) N52S probably damaging Het
Gaa T A 11: 119,171,361 (GRCm39) M671K possibly damaging Het
Gabrg3 T C 7: 56,423,032 (GRCm39) D222G possibly damaging Het
Gk5 C T 9: 96,022,709 (GRCm39) Q182* probably null Het
Gm14403 A T 2: 177,199,054 (GRCm39) H50L possibly damaging Het
Gzma T C 13: 113,234,794 (GRCm39) T66A probably damaging Het
Hint2 T C 4: 43,656,445 (GRCm39) probably benign Het
Hnmt A T 2: 23,904,251 (GRCm39) W137R probably damaging Het
Hoga1 T C 19: 42,048,402 (GRCm39) V90A probably benign Het
Idua A T 5: 108,828,090 (GRCm39) probably benign Het
Kif1a A C 1: 92,983,489 (GRCm39) S669R probably damaging Het
Klhdc7b A T 15: 89,271,862 (GRCm39) M915L possibly damaging Het
Klhl41 A G 2: 69,500,815 (GRCm39) Y92C probably damaging Het
Klrc2 A T 6: 129,633,420 (GRCm39) C186S probably damaging Het
Lmo7 A G 14: 102,166,772 (GRCm39) probably benign Het
Lrriq1 T C 10: 103,051,301 (GRCm39) M484V probably benign Het
Lzts1 A G 8: 69,591,729 (GRCm39) S140P possibly damaging Het
Mgat5b T A 11: 116,864,226 (GRCm39) V464E probably damaging Het
Mms19 A T 19: 41,944,305 (GRCm39) D298E possibly damaging Het
Muc5ac T C 7: 141,347,452 (GRCm39) probably null Het
Mycbp2 T A 14: 103,524,770 (GRCm39) K597I probably damaging Het
Myo18a C A 11: 77,745,513 (GRCm39) D1619E probably benign Het
Nfx1 T C 4: 40,984,973 (GRCm39) W366R probably null Het
Nipbl C T 15: 8,388,391 (GRCm39) V410I probably benign Het
Or14j10 T A 17: 37,935,323 (GRCm39) I68F probably benign Het
Or4c101 T A 2: 88,389,849 (GRCm39) M1K probably null Het
Or4f60 A T 2: 111,902,013 (GRCm39) M305K probably benign Het
Or52h1 T C 7: 103,829,091 (GRCm39) I175V probably benign Het
Or5b95 A T 19: 12,658,336 (GRCm39) Y288F probably damaging Het
Or7g32 A T 9: 19,388,853 (GRCm39) M231K probably benign Het
Or8u10 T C 2: 85,915,503 (GRCm39) N206S probably damaging Het
Otog A T 7: 45,936,871 (GRCm39) T1527S probably damaging Het
P2ry12 A T 3: 59,125,516 (GRCm39) M53K possibly damaging Het
Pask A G 1: 93,265,065 (GRCm39) probably null Het
Pcca G A 14: 123,124,481 (GRCm39) C684Y probably damaging Het
Pcdhb10 A G 18: 37,546,219 (GRCm39) T432A possibly damaging Het
Peak1 T C 9: 56,166,039 (GRCm39) N630D probably damaging Het
Plbd2 A T 5: 120,631,231 (GRCm39) probably null Het
Plekhg5 T C 4: 152,188,797 (GRCm39) V200A probably benign Het
Pola2 A G 19: 6,011,198 (GRCm39) V42A probably benign Het
Ppfibp2 T A 7: 107,337,097 (GRCm39) W572R probably damaging Het
Pramel11 A T 4: 143,622,337 (GRCm39) H339Q probably damaging Het
Prdx3 G A 19: 60,859,963 (GRCm39) A70V probably damaging Het
Prkd2 T C 7: 16,577,717 (GRCm39) F57L probably benign Het
Prodh2 A G 7: 30,206,171 (GRCm39) T324A possibly damaging Het
Ptdss1 T C 13: 67,120,604 (GRCm39) F267L probably damaging Het
Rai14 T A 15: 10,593,137 (GRCm39) H169L probably benign Het
Rere A G 4: 150,701,700 (GRCm39) H1360R probably damaging Het
Rfc3 C T 5: 151,573,444 (GRCm39) V40I probably benign Het
Rims1 T A 1: 22,577,590 (GRCm39) T219S probably damaging Het
Rnf169 T C 7: 99,576,338 (GRCm39) R289G possibly damaging Het
Senp7 T C 16: 56,004,512 (GRCm39) silent Het
Sfmbt2 A T 2: 10,573,184 (GRCm39) I571F probably damaging Het
Slc11a2 C A 15: 100,301,068 (GRCm39) K328N probably benign Het
Slc25a10 A G 11: 120,387,202 (GRCm39) probably benign Het
Slc38a8 T C 8: 120,207,488 (GRCm39) *433W probably null Het
Slco1a5 A C 6: 142,183,320 (GRCm39) probably null Het
Smc6 T A 12: 11,339,995 (GRCm39) N434K probably benign Het
Syndig1 A T 2: 149,741,428 (GRCm39) I5F possibly damaging Het
Syt5 T C 7: 4,546,018 (GRCm39) Q124R probably benign Het
Taok3 A C 5: 117,344,785 (GRCm39) M171L probably benign Het
Tbrg1 T C 9: 37,560,709 (GRCm39) D389G probably benign Het
Tcaf2 G A 6: 42,619,707 (GRCm39) R107C possibly damaging Het
Tex14 C A 11: 87,426,452 (GRCm39) H1159Q probably damaging Het
Tmprss11d T A 5: 86,474,388 (GRCm39) M190L probably benign Het
Ttn T A 2: 76,768,867 (GRCm39) T2856S probably damaging Het
Ubr4 T A 4: 139,171,998 (GRCm39) M2997K probably damaging Het
Unc5c C T 3: 141,383,886 (GRCm39) A88V probably damaging Het
Use1 T C 8: 71,820,398 (GRCm39) probably benign Het
Vmn1r43 T C 6: 89,847,354 (GRCm39) N44S probably damaging Het
Vmn1r89 T A 7: 12,954,146 (GRCm39) V294D possibly damaging Het
Vmn2r11 A T 5: 109,194,869 (GRCm39) V819E probably damaging Het
Vmn2r120 T A 17: 57,831,977 (GRCm39) M271L probably benign Het
Vmn2r52 T C 7: 9,905,059 (GRCm39) Y260C probably damaging Het
Vmn2r67 T A 7: 84,799,151 (GRCm39) R519* probably null Het
Vmn2r69 T A 7: 85,056,404 (GRCm39) D578V probably damaging Het
Vmn2r85 T C 10: 130,262,343 (GRCm39) Y132C probably damaging Het
Wdr74 T A 19: 8,715,240 (GRCm39) V133E probably damaging Het
Zfp318 T A 17: 46,720,170 (GRCm39) probably benign Het
Zfp810 A T 9: 22,194,467 (GRCm39) S74T 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
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
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'- ACCTGTTGGGGCATCCATAG -3'
(R):5'- CATTCCTGGACTTACTGGAGC -3'

Sequencing Primer
(F):5'- CACTGTGTCAAAGGTAGCAGTCC -3'
(R):5'- ACTTACTGGAGCTCCCTAGAG -3'
Posted On 2016-11-08