Incidental Mutation 'R4160:Ppp6r3'
ID 315719
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 041003-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R4160 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 3504928-3625749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 3562037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 208 (H208L)
Ref Sequence ENSEMBL: ENSMUSP00000131084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025846] [ENSMUST00000113997] [ENSMUST00000172362]
AlphaFold Q922D4
Predicted Effect probably damaging
Transcript: ENSMUST00000025846
AA Change: H208L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025846
Gene: ENSMUSG00000024908
AA Change: H208L

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: H208L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109630
Gene: ENSMUSG00000024908
AA Change: H208L

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 damaging
Transcript: ENSMUST00000172362
AA Change: H208L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131084
Gene: ENSMUSG00000024908
AA Change: H208L

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
Meta Mutation Damage Score 0.8613 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 89% (34/38)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 G T 17: 42,978,568 (GRCm39) H258Q probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Arhgef19 T C 4: 140,973,660 (GRCm39) I49T possibly damaging Het
Bltp3a A G 17: 28,103,061 (GRCm39) Y365C probably damaging Het
Cacnb3 G T 15: 98,538,601 (GRCm39) G148C probably damaging Het
Cep350 G A 1: 155,808,621 (GRCm39) R652W probably damaging Het
Cyp19a1 G A 9: 54,093,980 (GRCm39) T94I probably damaging Het
D130043K22Rik A C 13: 25,046,679 (GRCm39) E360D probably benign Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Efcab14 A C 4: 115,597,594 (GRCm39) D63A probably damaging Het
Ibtk T C 9: 85,585,143 (GRCm39) E1167G probably benign Het
Ikzf4 A T 10: 128,479,605 (GRCm39) probably benign Het
Magi3 T C 3: 103,958,277 (GRCm39) K603E probably damaging Het
Myh13 T C 11: 67,255,636 (GRCm39) probably benign Het
Nox4 A T 7: 87,046,032 (GRCm39) H557L possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pdia3 A T 2: 121,244,596 (GRCm39) D26V probably damaging Het
Pds5a T C 5: 65,821,839 (GRCm39) T120A possibly damaging Het
Phf8-ps G A 17: 33,285,023 (GRCm39) T593I probably benign Het
Pkn2 G A 3: 142,509,325 (GRCm39) P740S probably benign Het
Pla2r1 A T 2: 60,252,966 (GRCm39) I1375K probably damaging Het
Pld2 T C 11: 70,432,253 (GRCm39) L124P probably damaging Het
Prr36 G T 8: 4,262,910 (GRCm39) Q919K probably benign Het
Ptpn1 T C 2: 167,809,731 (GRCm39) I113T probably benign Het
Ptprz1 T C 6: 23,022,204 (GRCm39) I844T possibly damaging Het
Rbl1 A G 2: 157,034,039 (GRCm39) probably benign Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Senp7 C A 16: 55,973,832 (GRCm39) P351Q possibly damaging Het
Slc26a7 T C 4: 14,544,197 (GRCm39) T369A probably benign Het
Tnxb A G 17: 34,930,491 (GRCm39) T2059A probably damaging Het
Vat1l T A 8: 115,098,469 (GRCm39) M413K probably benign Het
Vps11 C G 9: 44,267,017 (GRCm39) G406A probably damaging Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably 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
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'- GGAGCATGTCACTTACCAGTC -3'
(R):5'- TACACTGTGCAGTTGTGGAC -3'

Sequencing Primer
(F):5'- TGTCACTTACCAGTCACTCATAAGG -3'
(R):5'- TTGTGGACGAGAGAAGCTCATTAG -3'
Posted On 2015-05-14