Incidental Mutation 'IGL02805:Ppp6r3'
ID 360380
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp6r3
Ensembl Gene ENSMUSG00000024908
Gene Name protein phosphatase 6, regulatory subunit 3
Synonyms 4930528G08Rik, Pptcs3, Saps3, D19Bwg1430e, D19Ertd703e, Pp6r3, 9130026N02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # IGL02805
Quality Score
Status
Chromosome 19
Chromosomal Location 3504928-3625749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3542428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 406 (N406D)
Ref Sequence ENSEMBL: ENSMUSP00000131084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025846] [ENSMUST00000113997] [ENSMUST00000172362]
AlphaFold Q922D4
Predicted Effect probably benign
Transcript: ENSMUST00000025846
AA Change: N406D

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025846
Gene: ENSMUSG00000024908
AA Change: N406D

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 noncoding transcript
Transcript: ENSMUST00000101958
Predicted Effect probably benign
Transcript: ENSMUST00000113997
AA Change: N406D

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109630
Gene: ENSMUSG00000024908
AA Change: N406D

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: N406D

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000131084
Gene: ENSMUSG00000024908
AA Change: N406D

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: ENSMUST00000224419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225705
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,113,959 (GRCm39) probably benign Het
Ankdd1b A G 13: 96,580,810 (GRCm39) S163P probably benign Het
Ap5z1 G A 5: 142,456,038 (GRCm39) probably benign Het
Asb14 A G 14: 26,623,144 (GRCm39) N172S possibly damaging Het
Avil G A 10: 126,843,486 (GRCm39) V139I possibly damaging Het
C130073F10Rik A T 4: 101,748,171 (GRCm39) M1K probably null Het
Ccdc33 T A 9: 58,005,874 (GRCm39) I37F probably benign Het
Ccdc9 T C 7: 16,009,199 (GRCm39) M550V probably benign Het
Cfap119 T C 7: 127,185,566 (GRCm39) D121G possibly damaging Het
Cgn T A 3: 94,681,687 (GRCm39) L469F probably damaging Het
Dnaaf3 C T 7: 4,526,704 (GRCm39) G458R possibly damaging Het
Dscaml1 T A 9: 45,359,195 (GRCm39) N151K probably damaging Het
Dsel A G 1: 111,790,046 (GRCm39) V163A probably damaging Het
Epg5 A G 18: 78,073,406 (GRCm39) probably benign Het
Fanca A T 8: 124,016,233 (GRCm39) I670N probably damaging Het
Fsip2 T C 2: 82,823,839 (GRCm39) V6524A probably benign Het
Gm10985 T C 3: 53,752,514 (GRCm39) probably null Het
Gm1818 C T 12: 48,602,518 (GRCm39) noncoding transcript Het
Hars2 C T 18: 36,920,630 (GRCm39) R158* probably null Het
Htr5b A G 1: 121,455,617 (GRCm39) V101A probably damaging Het
Ipp A G 4: 116,386,885 (GRCm39) I356V possibly damaging Het
Itga8 T A 2: 12,194,291 (GRCm39) N703I possibly damaging Het
Or8b3 T A 9: 38,315,132 (GRCm39) probably benign Het
Rbbp6 G A 7: 122,600,411 (GRCm39) probably benign Het
Rgs7 T C 1: 174,977,262 (GRCm39) Y114C probably damaging Het
Ripor1 A G 8: 106,344,203 (GRCm39) T446A probably damaging Het
Rnf213 A G 11: 119,325,892 (GRCm39) D1562G probably damaging Het
Scaf11 A T 15: 96,318,063 (GRCm39) D500E possibly damaging Het
Spock1 A G 13: 58,055,391 (GRCm39) I4T possibly damaging Het
Srebf2 C A 15: 82,054,045 (GRCm39) N35K probably benign Het
Srgap3 G T 6: 112,704,224 (GRCm39) H922N probably damaging Het
Stk32c A C 7: 138,701,762 (GRCm39) H112Q probably damaging Het
Styxl2 T C 1: 165,926,630 (GRCm39) E994G probably damaging Het
Thumpd3 A G 6: 113,043,758 (GRCm39) D391G probably damaging Het
Vmn2r38 T A 7: 9,078,546 (GRCm39) H612L probably damaging Het
Vsig10l T G 7: 43,114,666 (GRCm39) I289S probably damaging Het
Wwox G A 8: 115,438,753 (GRCm39) G273E probably damaging Het
Zscan4d T G 7: 10,898,897 (GRCm39) 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
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
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
Posted On 2015-12-18