Incidental Mutation 'R7178:Ppp6r3'
ID 558804
Institutional Source Beutler Lab
Gene Symbol Ppp6r3
Ensembl Gene ENSMUSG00000024908
Gene Name protein phosphatase 6, regulatory subunit 3
Synonyms 4930528G08Rik, Pptcs3, Saps3, D19Bwg1430e, D19Ertd703e, Pp6r3, 9130026N02Rik
MMRRC Submission 045232-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R7178 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 3504928-3625749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3568337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 154 (I154L)
Ref Sequence ENSEMBL: ENSMUSP00000025846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025846] [ENSMUST00000113997] [ENSMUST00000172362]
AlphaFold Q922D4
Predicted Effect probably benign
Transcript: ENSMUST00000025846
AA Change: I154L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025846
Gene: ENSMUSG00000024908
AA Change: I154L

DomainStartEndE-ValueType
coiled coil region 25 52 N/A INTRINSIC
Pfam:SAPS 128 365 2.7e-69 PFAM
Pfam:SAPS 360 513 1.4e-44 PFAM
low complexity region 609 627 N/A INTRINSIC
low complexity region 743 758 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113997
AA Change: I154L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109630
Gene: ENSMUSG00000024908
AA Change: I154L

DomainStartEndE-ValueType
coiled coil region 25 52 N/A INTRINSIC
Pfam:SAPS 128 365 5.8e-69 PFAM
Pfam:SAPS 363 513 2.7e-44 PFAM
low complexity region 638 656 N/A INTRINSIC
low complexity region 772 787 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172362
AA Change: I154L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131084
Gene: ENSMUSG00000024908
AA Change: I154L

DomainStartEndE-ValueType
coiled coil region 25 52 N/A INTRINSIC
Pfam:SAPS 128 365 2.6e-69 PFAM
Pfam:SAPS 360 513 1.3e-44 PFAM
low complexity region 592 610 N/A INTRINSIC
low complexity region 726 741 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase regulatory subunits, such as SAPS3, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS3 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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 A G 9: 54,535,745 (GRCm39) I130T possibly damaging Het
Adam24 T A 8: 41,133,039 (GRCm39) L169* probably null Het
Als2 A T 1: 59,246,971 (GRCm39) I556N probably damaging Het
Ankrd44 A T 1: 54,688,599 (GRCm39) N212K Het
Anpep T C 7: 79,490,736 (GRCm39) D260G probably benign Het
Arhgap17 A T 7: 122,884,581 (GRCm39) probably null Het
Atad2 C T 15: 57,980,689 (GRCm39) R383Q probably damaging Het
Atp11b T A 3: 35,874,099 (GRCm39) M696K probably benign Het
Atp13a2 A G 4: 140,726,462 (GRCm39) T350A probably damaging Het
Atp8b2 T C 3: 89,850,979 (GRCm39) D29G possibly damaging Het
Baz2a C T 10: 127,960,326 (GRCm39) R1514W probably damaging Het
Cep250 T A 2: 155,815,375 (GRCm39) L631* probably null Het
Cimip2a G A 2: 25,110,252 (GRCm39) V55I probably damaging Het
Clec4a3 T C 6: 122,941,251 (GRCm39) I82T probably benign Het
Csmd3 T A 15: 47,454,170 (GRCm39) I2648F Het
Cul5 A G 9: 53,555,826 (GRCm39) F247L probably benign Het
Dnajc24 A T 2: 105,800,807 (GRCm39) M101K probably damaging Het
Dnhd1 T A 7: 105,344,200 (GRCm39) V1848E probably damaging Het
Dspp A G 5: 104,321,932 (GRCm39) T14A probably benign Het
Gm7298 T G 6: 121,762,855 (GRCm39) I1392S probably damaging Het
Gm9955 A T 18: 24,842,220 (GRCm39) S62R unknown Het
Gtsf1 T G 15: 103,328,388 (GRCm39) N130T probably benign Het
Heatr5a C A 12: 51,971,925 (GRCm39) S755I probably damaging Het
Hrc A G 7: 44,985,685 (GRCm39) T279A possibly damaging Het
Hvcn1 T C 5: 122,371,573 (GRCm39) W38R probably damaging Het
Hyal6 A G 6: 24,734,834 (GRCm39) S256G probably benign Het
Insyn2b G T 11: 34,352,359 (GRCm39) V134F probably damaging Het
Ipo13 A G 4: 117,761,081 (GRCm39) S546P possibly damaging Het
Katnip T C 7: 125,465,499 (GRCm39) V1317A probably benign Het
Kif24 A G 4: 41,395,085 (GRCm39) V730A probably benign Het
L3mbtl2 T C 15: 81,555,275 (GRCm39) V176A probably benign Het
Lgi1 T C 19: 38,294,733 (GRCm39) Y502H probably damaging Het
Liph T A 16: 21,795,078 (GRCm39) D178V probably damaging Het
Maea T C 5: 33,515,854 (GRCm39) V47A probably damaging Het
Mak16 A C 8: 31,656,602 (GRCm39) S42A probably benign Het
Mamdc4 T C 2: 25,458,977 (GRCm39) I269V probably benign Het
Mapk8ip3 A T 17: 25,120,728 (GRCm39) M812K probably benign Het
Muc4 T A 16: 32,752,788 (GRCm38) S889T unknown Het
Npy6r A G 18: 44,409,551 (GRCm39) N324S probably damaging Het
Ntrk3 T G 7: 78,005,895 (GRCm39) T489P possibly damaging Het
Or52a5b G A 7: 103,417,182 (GRCm39) Q141* probably null Het
Or5h19 T A 16: 58,856,296 (GRCm39) D268V probably benign Het
Or5t17 G A 2: 86,832,879 (GRCm39) V189I probably benign Het
Otof G C 5: 30,540,878 (GRCm39) T887S possibly damaging Het
Papola T C 12: 105,773,443 (GRCm39) V154A probably damaging Het
Pde4dip T C 3: 97,622,946 (GRCm39) H1421R probably benign Het
Plpp5 T C 8: 26,210,606 (GRCm39) S66P probably benign Het
Prr18 A C 17: 8,560,741 (GRCm39) D299A possibly damaging Het
Psmb1 G A 17: 15,697,521 (GRCm39) S198F possibly damaging Het
Qars1 T C 9: 108,392,322 (GRCm39) V723A possibly damaging Het
Rab6a A T 7: 100,285,959 (GRCm39) R185* probably null Het
Scn2a C T 2: 65,579,197 (GRCm39) Q1511* probably null Het
Serpinb3d T A 1: 107,008,506 (GRCm39) I120F possibly damaging Het
Serpini2 T C 3: 75,165,455 (GRCm39) T175A probably damaging Het
Skic2 T C 17: 35,058,440 (GRCm39) T1226A probably benign Het
Slc17a6 A G 7: 51,317,259 (GRCm39) I427V possibly damaging Het
Slc2a2 C T 3: 28,773,631 (GRCm39) A312V possibly damaging Het
Snx33 C T 9: 56,833,151 (GRCm39) R306H probably damaging Het
Spcs1 G A 14: 30,722,438 (GRCm39) S127F possibly damaging Het
Speg T C 1: 75,399,027 (GRCm39) V2158A possibly damaging Het
Sptbn4 T A 7: 27,117,481 (GRCm39) I423F probably damaging Het
Synj2 T A 17: 6,076,754 (GRCm39) I930N possibly damaging Het
Tas2r140 T A 6: 133,032,623 (GRCm39) D45V probably damaging Het
Tcf3 C A 10: 80,257,433 (GRCm39) V11F unknown Het
Tead1 A T 7: 112,441,144 (GRCm39) Q91L probably benign Het
Tgm5 T A 2: 120,916,249 (GRCm39) probably benign Het
Tgoln1 C T 6: 72,593,028 (GRCm39) G151S probably benign Het
Tnfrsf11a C A 1: 105,755,264 (GRCm39) N445K probably benign Het
Ttn G C 2: 76,540,514 (GRCm39) F34157L probably benign Het
Vmn2r91 C A 17: 18,356,424 (GRCm39) P697Q probably damaging Het
Zeb2 G A 2: 44,887,006 (GRCm39) L684F probably damaging Het
Zfp661 T C 2: 127,419,456 (GRCm39) D228G probably benign Het
Zfp738 T C 13: 67,821,147 (GRCm39) K77E probably damaging Het
Zkscan1 T A 5: 138,099,192 (GRCm39) D378E probably damaging Het
Zswim9 T A 7: 12,993,924 (GRCm39) D744V possibly damaging Het
Other mutations in Ppp6r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Ppp6r3 APN 19 3,564,729 (GRCm39) splice site probably null
IGL00340:Ppp6r3 APN 19 3,568,324 (GRCm39) missense probably damaging 1.00
IGL00585:Ppp6r3 APN 19 3,540,826 (GRCm39) missense probably damaging 0.99
IGL01304:Ppp6r3 APN 19 3,517,261 (GRCm39) missense probably damaging 0.99
IGL02048:Ppp6r3 APN 19 3,523,848 (GRCm39) missense possibly damaging 0.96
IGL02055:Ppp6r3 APN 19 3,571,781 (GRCm39) missense probably benign 0.01
IGL02108:Ppp6r3 APN 19 3,542,494 (GRCm39) missense probably damaging 1.00
IGL02227:Ppp6r3 APN 19 3,568,245 (GRCm39) missense possibly damaging 0.56
IGL02427:Ppp6r3 APN 19 3,516,580 (GRCm39) missense probably null
IGL02441:Ppp6r3 APN 19 3,514,693 (GRCm39) missense probably benign 0.14
IGL02805:Ppp6r3 APN 19 3,542,428 (GRCm39) missense probably benign 0.15
IGL03298:Ppp6r3 APN 19 3,571,829 (GRCm39) missense probably damaging 0.97
PIT1430001:Ppp6r3 UTSW 19 3,521,059 (GRCm39) nonsense probably null
R0324:Ppp6r3 UTSW 19 3,514,693 (GRCm39) missense probably benign 0.00
R0362:Ppp6r3 UTSW 19 3,528,285 (GRCm39) missense probably damaging 0.96
R1876:Ppp6r3 UTSW 19 3,521,971 (GRCm39) splice site probably benign
R2860:Ppp6r3 UTSW 19 3,571,782 (GRCm39) missense possibly damaging 0.49
R2861:Ppp6r3 UTSW 19 3,571,782 (GRCm39) missense possibly damaging 0.49
R2862:Ppp6r3 UTSW 19 3,571,782 (GRCm39) missense possibly damaging 0.49
R3958:Ppp6r3 UTSW 19 3,546,583 (GRCm39) missense probably damaging 0.99
R4158:Ppp6r3 UTSW 19 3,562,037 (GRCm39) missense probably damaging 0.97
R4160:Ppp6r3 UTSW 19 3,562,037 (GRCm39) missense probably damaging 0.97
R4473:Ppp6r3 UTSW 19 3,561,978 (GRCm39) missense probably damaging 1.00
R4901:Ppp6r3 UTSW 19 3,517,229 (GRCm39) missense probably damaging 1.00
R4996:Ppp6r3 UTSW 19 3,523,833 (GRCm39) missense probably damaging 0.98
R5139:Ppp6r3 UTSW 19 3,514,610 (GRCm39) missense probably damaging 1.00
R5414:Ppp6r3 UTSW 19 3,557,330 (GRCm39) missense probably damaging 1.00
R5776:Ppp6r3 UTSW 19 3,576,901 (GRCm39) missense possibly damaging 0.77
R6290:Ppp6r3 UTSW 19 3,544,011 (GRCm39) missense probably benign
R6525:Ppp6r3 UTSW 19 3,543,936 (GRCm39) missense probably damaging 0.99
R6797:Ppp6r3 UTSW 19 3,564,719 (GRCm39) missense probably damaging 1.00
R6977:Ppp6r3 UTSW 19 3,517,272 (GRCm39) missense probably damaging 1.00
R7176:Ppp6r3 UTSW 19 3,521,989 (GRCm39) missense probably damaging 0.99
R7239:Ppp6r3 UTSW 19 3,543,981 (GRCm39) missense probably benign 0.38
R7326:Ppp6r3 UTSW 19 3,557,325 (GRCm39) missense probably damaging 1.00
R7536:Ppp6r3 UTSW 19 3,557,341 (GRCm39) missense possibly damaging 0.80
R7583:Ppp6r3 UTSW 19 3,540,790 (GRCm39) missense probably benign
R7991:Ppp6r3 UTSW 19 3,509,750 (GRCm39) missense probably benign
R8486:Ppp6r3 UTSW 19 3,537,072 (GRCm39) missense probably benign
R8699:Ppp6r3 UTSW 19 3,546,587 (GRCm39) missense probably damaging 1.00
R8818:Ppp6r3 UTSW 19 3,517,216 (GRCm39) missense probably benign 0.31
R8826:Ppp6r3 UTSW 19 3,521,984 (GRCm39) missense
R8846:Ppp6r3 UTSW 19 3,564,654 (GRCm39) missense probably damaging 0.99
R8863:Ppp6r3 UTSW 19 3,521,030 (GRCm39) missense probably damaging 1.00
R8869:Ppp6r3 UTSW 19 3,561,927 (GRCm39) critical splice donor site probably null
R8895:Ppp6r3 UTSW 19 3,544,017 (GRCm39) missense probably damaging 1.00
R8909:Ppp6r3 UTSW 19 3,509,461 (GRCm39) missense probably benign 0.17
R9147:Ppp6r3 UTSW 19 3,543,974 (GRCm39) missense probably damaging 1.00
R9148:Ppp6r3 UTSW 19 3,543,974 (GRCm39) missense probably damaging 1.00
R9200:Ppp6r3 UTSW 19 3,519,748 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGACAACCATCTCCTTGC -3'
(R):5'- TATTGCAGCTGTTAGCCAGATTCC -3'

Sequencing Primer
(F):5'- GCCCTCTCATTCTGTAGAATTCC -3'
(R):5'- AGCTGTTAGCCAGATTCCCCATG -3'
Posted On 2019-06-26