Incidental Mutation 'R2862:Ppp6r3'
ID 252992
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 040452-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R2862 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 3504928-3625749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 3571782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 122 (S122R)
Ref Sequence ENSEMBL: ENSMUSP00000109630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025846] [ENSMUST00000113997] [ENSMUST00000172362] [ENSMUST00000226109]
AlphaFold Q922D4
Predicted Effect probably benign
Transcript: ENSMUST00000025846
AA Change: S122R

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000025846
Gene: ENSMUSG00000024908
AA Change: S122R

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 possibly damaging
Transcript: ENSMUST00000113997
AA Change: S122R

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109630
Gene: ENSMUSG00000024908
AA Change: S122R

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: S122R

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000131084
Gene: ENSMUSG00000024908
AA Change: S122R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225446
Predicted Effect probably benign
Transcript: ENSMUST00000226109
Meta Mutation Damage Score 0.8881 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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 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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,259,057 (GRCm39) S2928G probably damaging Het
Abcd1 T A X: 72,781,064 (GRCm39) L713H probably damaging Het
Actg1 T C 11: 120,237,627 (GRCm39) I52V probably benign Het
Ahi1 T A 10: 20,857,307 (GRCm39) V634E probably damaging Het
Ang G T 14: 51,339,275 (GRCm39) D139Y probably damaging Het
Apoe T C 7: 19,431,479 (GRCm39) Y46C probably damaging Het
Aqr A T 2: 113,967,398 (GRCm39) V539D probably damaging Het
Btg3 A G 16: 78,161,868 (GRCm39) V114A probably damaging Het
Cap1 A T 4: 122,758,518 (GRCm39) S221T probably benign Het
Ccdc121 G A 5: 31,643,255 (GRCm39) probably benign Het
Cdca2 T C 14: 67,935,539 (GRCm39) E392G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col22a1 A G 15: 71,687,792 (GRCm39) probably null Het
Cyp2c38 G A 19: 39,449,138 (GRCm39) R72W probably benign Het
Dnah1 C T 14: 31,006,719 (GRCm39) G2199S probably benign Het
Dnhd1 A G 7: 105,361,766 (GRCm39) E3608G probably benign Het
Ears2 A T 7: 121,662,163 (GRCm39) L95Q probably damaging Het
F5 A T 1: 164,012,533 (GRCm39) K482N probably damaging Het
Gata5 C T 2: 179,976,129 (GRCm39) G12S possibly damaging Het
Gm11938 C A 11: 99,493,972 (GRCm39) R41L probably damaging Het
Grap2 A T 15: 80,532,165 (GRCm39) Q260L probably damaging Het
Greb1 A G 12: 16,761,746 (GRCm39) S545P probably benign Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Il18r1 T C 1: 40,537,717 (GRCm39) V494A possibly damaging Het
Kdf1 G A 4: 133,255,852 (GRCm39) E190K probably damaging Het
Lama2 G A 10: 27,298,608 (GRCm39) Q163* probably null Het
Lama3 G T 18: 12,586,807 (GRCm39) L723F probably damaging Het
Lamp5 A T 2: 135,900,866 (GRCm39) H22L probably benign Het
Maged1 G A X: 93,582,530 (GRCm39) P366S probably damaging Het
Med14 A G X: 12,585,936 (GRCm39) I521T probably benign Het
Mia2 A G 12: 59,201,196 (GRCm39) K841E probably damaging Het
Mrgbp G A 2: 180,225,203 (GRCm39) R53Q possibly damaging Het
Mrps18b G A 17: 36,221,746 (GRCm39) S101L probably benign Het
Nmnat2 G A 1: 152,988,171 (GRCm39) V267I probably benign Het
Noc2l A G 4: 156,321,907 (GRCm39) D102G probably benign Het
Ntn1 T C 11: 68,276,690 (GRCm39) E86G probably benign Het
Opn4 A G 14: 34,315,785 (GRCm39) probably null Het
Or2d2b T A 7: 106,705,675 (GRCm39) H131L probably benign Het
Or4c109 A T 2: 88,817,664 (GRCm39) I294K probably benign Het
Or52n1 A G 7: 104,383,425 (GRCm39) F49L probably benign Het
Or6k6 A G 1: 173,945,298 (GRCm39) Y95H probably damaging Het
Pate3 T A 9: 35,559,415 (GRCm39) M1L possibly damaging Het
Pex2 A G 3: 5,626,240 (GRCm39) Y190H probably damaging Het
Pkhd1l1 A C 15: 44,404,267 (GRCm39) T2299P probably damaging Het
Pwwp3b G A X: 138,137,429 (GRCm39) G656S possibly damaging Het
Rnf113a1 A G X: 36,455,736 (GRCm39) E231G probably damaging Het
Rnf41 T C 10: 128,274,023 (GRCm39) L225P possibly damaging Het
Rreb1 G C 13: 38,116,429 (GRCm39) A1263P probably benign Het
Rxfp1 A G 3: 79,589,778 (GRCm39) V121A possibly damaging Het
Slc35e4 A T 11: 3,862,796 (GRCm39) V131D probably damaging Het
Smyd4 T A 11: 75,280,962 (GRCm39) M145K probably benign Het
Snx13 T A 12: 35,188,116 (GRCm39) I798N probably benign Het
Srgap3 A T 6: 112,699,933 (GRCm39) F1015Y probably damaging Het
Synj1 T C 16: 90,766,217 (GRCm39) Y567C probably damaging Het
Tbc1d8 G A 1: 39,441,777 (GRCm39) Q272* probably null Het
Tinf2 T C 14: 55,918,088 (GRCm39) D127G probably damaging Het
Ube2v1 G A 2: 167,459,885 (GRCm39) P39L probably damaging Het
Vegfd A G X: 163,168,879 (GRCm39) E57G probably damaging Het
Vmn2r72 A T 7: 85,400,044 (GRCm39) I335N probably damaging Het
Zc3h6 A G 2: 128,857,380 (GRCm39) H633R probably benign 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
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
R7178:Ppp6r3 UTSW 19 3,568,337 (GRCm39) missense probably benign 0.00
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'- GGTTTCTCAGACTCCTAAAGACC -3'
(R):5'- CCTCATGTGTGCTGTACTTAATGTG -3'

Sequencing Primer
(F):5'- AGACCTAAAACACACTCTTTTGTAG -3'
(R):5'- TGTGTGCTGTACTTAATGTGATAAAC -3'
Posted On 2014-12-04