Incidental Mutation 'IGL02805:Ppp6r3'
ID360380
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp6r3
Ensembl Gene ENSMUSG00000024908
Gene Nameprotein phosphatase 6, regulatory subunit 3
SynonymsPp6r3, D19Ertd703e, D19Bwg1430e, 4930528G08Rik, Saps3, 9130026N02Rik, Pptcs3
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.844) question?
Stock #IGL02805
Quality Score
Status
Chromosome19
Chromosomal Location3454928-3575749 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3492428 bp
ZygosityHeterozygous
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]
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: 84,223,133 probably benign Het
Ankdd1b A G 13: 96,444,302 S163P probably benign Het
Ap5z1 G A 5: 142,470,283 probably benign Het
Asb14 A G 14: 26,901,187 N172S possibly damaging Het
Avil G A 10: 127,007,617 V139I possibly damaging Het
C130073F10Rik A T 4: 101,890,974 M1K probably null Het
Ccdc189 T C 7: 127,586,394 D121G possibly damaging Het
Ccdc33 T A 9: 58,098,591 I37F probably benign Het
Ccdc9 T C 7: 16,275,274 M550V probably benign Het
Cgn T A 3: 94,774,377 L469F probably damaging Het
Dnaaf3 C T 7: 4,523,705 G458R possibly damaging Het
Dscaml1 T A 9: 45,447,897 N151K probably damaging Het
Dsel A G 1: 111,862,316 V163A probably damaging Het
Dusp27 T C 1: 166,099,061 E994G probably damaging Het
Epg5 A G 18: 78,030,191 probably benign Het
Fanca A T 8: 123,289,494 I670N probably damaging Het
Fsip2 T C 2: 82,993,495 V6524A probably benign Het
Gm10985 T C 3: 53,845,093 probably null Het
Gm1818 C T 12: 48,555,735 noncoding transcript Het
Hars2 C T 18: 36,787,577 R158* probably null Het
Htr5b A G 1: 121,527,888 V101A probably damaging Het
Ipp A G 4: 116,529,688 I356V possibly damaging Het
Itga8 T A 2: 12,189,480 N703I possibly damaging Het
Olfr147 T A 9: 38,403,836 probably benign Het
Rbbp6 G A 7: 123,001,188 probably benign Het
Rgs7 T C 1: 175,149,696 Y114C probably damaging Het
Ripor1 A G 8: 105,617,571 T446A probably damaging Het
Rnf213 A G 11: 119,435,066 D1562G probably damaging Het
Scaf11 A T 15: 96,420,182 D500E possibly damaging Het
Spock1 A G 13: 57,907,577 I4T possibly damaging Het
Srebf2 C A 15: 82,169,844 N35K probably benign Het
Srgap3 G T 6: 112,727,263 H922N probably damaging Het
Stk32c A C 7: 139,121,846 H112Q probably damaging Het
Thumpd3 A G 6: 113,066,797 D391G probably damaging Het
Vmn2r38 T A 7: 9,075,547 H612L probably damaging Het
Vsig10l T G 7: 43,465,242 I289S probably damaging Het
Wwox G A 8: 114,712,013 G273E probably damaging Het
Zscan4d T G 7: 11,164,970 probably benign Het
Other mutations in Ppp6r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Ppp6r3 APN 19 3514729 splice site probably null
IGL00340:Ppp6r3 APN 19 3518324 missense probably damaging 1.00
IGL00585:Ppp6r3 APN 19 3490826 missense probably damaging 0.99
IGL01304:Ppp6r3 APN 19 3467261 missense probably damaging 0.99
IGL02048:Ppp6r3 APN 19 3473848 missense possibly damaging 0.96
IGL02055:Ppp6r3 APN 19 3521781 missense probably benign 0.01
IGL02108:Ppp6r3 APN 19 3492494 missense probably damaging 1.00
IGL02227:Ppp6r3 APN 19 3518245 missense possibly damaging 0.56
IGL02427:Ppp6r3 APN 19 3466580 missense probably null
IGL02441:Ppp6r3 APN 19 3464693 missense probably benign 0.14
IGL03298:Ppp6r3 APN 19 3521829 missense probably damaging 0.97
PIT1430001:Ppp6r3 UTSW 19 3471059 nonsense probably null
R0324:Ppp6r3 UTSW 19 3464693 missense probably benign 0.00
R0362:Ppp6r3 UTSW 19 3478285 missense probably damaging 0.96
R1876:Ppp6r3 UTSW 19 3471971 splice site probably benign
R2860:Ppp6r3 UTSW 19 3521782 missense possibly damaging 0.49
R2861:Ppp6r3 UTSW 19 3521782 missense possibly damaging 0.49
R2862:Ppp6r3 UTSW 19 3521782 missense possibly damaging 0.49
R3958:Ppp6r3 UTSW 19 3496583 missense probably damaging 0.99
R4158:Ppp6r3 UTSW 19 3512037 missense probably damaging 0.97
R4160:Ppp6r3 UTSW 19 3512037 missense probably damaging 0.97
R4473:Ppp6r3 UTSW 19 3511978 missense probably damaging 1.00
R4901:Ppp6r3 UTSW 19 3467229 missense probably damaging 1.00
R4996:Ppp6r3 UTSW 19 3473833 missense probably damaging 0.98
R5139:Ppp6r3 UTSW 19 3464610 missense probably damaging 1.00
R5414:Ppp6r3 UTSW 19 3507330 missense probably damaging 1.00
R5776:Ppp6r3 UTSW 19 3526901 missense possibly damaging 0.77
R6290:Ppp6r3 UTSW 19 3494011 missense probably benign
R6525:Ppp6r3 UTSW 19 3493936 missense probably damaging 0.99
R6797:Ppp6r3 UTSW 19 3514719 missense probably damaging 1.00
R6977:Ppp6r3 UTSW 19 3467272 missense probably damaging 1.00
R7176:Ppp6r3 UTSW 19 3471989 missense probably damaging 0.99
R7178:Ppp6r3 UTSW 19 3518337 missense probably benign 0.00
R7239:Ppp6r3 UTSW 19 3493981 missense probably benign 0.38
R7326:Ppp6r3 UTSW 19 3507325 missense probably damaging 1.00
R7536:Ppp6r3 UTSW 19 3507341 missense possibly damaging 0.80
R7583:Ppp6r3 UTSW 19 3490790 missense probably benign
R7991:Ppp6r3 UTSW 19 3459750 missense probably benign
R8486:Ppp6r3 UTSW 19 3487072 missense probably benign
R8699:Ppp6r3 UTSW 19 3496587 missense probably damaging 1.00
R8818:Ppp6r3 UTSW 19 3467216 missense probably benign 0.31
R8826:Ppp6r3 UTSW 19 3471984 missense
R8846:Ppp6r3 UTSW 19 3514654 missense probably damaging 0.99
R8863:Ppp6r3 UTSW 19 3471030 missense probably damaging 1.00
R8869:Ppp6r3 UTSW 19 3511927 critical splice donor site probably null
R8895:Ppp6r3 UTSW 19 3494017 missense probably damaging 1.00
R8909:Ppp6r3 UTSW 19 3459461 missense probably benign 0.17
Posted On2015-12-18