Incidental Mutation 'IGL00585:Ppp6r3'
ID 3276
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 # IGL00585
Quality Score
Status
Chromosome 19
Chromosomal Location 3504928-3625749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3540826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 431 (C431R)
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: C431R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025846
Gene: ENSMUSG00000024908
AA Change: C431R

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 damaging
Transcript: ENSMUST00000113997
AA Change: C431R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109630
Gene: ENSMUSG00000024908
AA Change: C431R

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: C431R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131084
Gene: ENSMUSG00000024908
AA Change: C431R

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,519,294 (GRCm39) I664F probably damaging Het
Abcg4 A T 9: 44,192,920 (GRCm39) M142K probably benign Het
Afdn A G 17: 14,104,890 (GRCm39) T1198A probably damaging Het
Angptl2 T C 2: 33,136,239 (GRCm39) S475P probably damaging Het
Ap3s2 T C 7: 79,565,824 (GRCm39) E34G probably benign Het
C1qtnf9 T C 14: 61,017,442 (GRCm39) F324S probably damaging Het
Cacng7 A G 7: 3,414,547 (GRCm39) Y170C probably damaging Het
Ceacam18 G A 7: 43,286,435 (GRCm39) V103M possibly damaging Het
Chrnb1 G A 11: 69,684,742 (GRCm39) P144S probably damaging Het
Chuk T C 19: 44,066,751 (GRCm39) H652R probably damaging Het
Ckap5 C T 2: 91,450,170 (GRCm39) L1948F probably damaging Het
Clstn1 A T 4: 149,722,769 (GRCm39) H469L probably benign Het
Csf2rb2 C T 15: 78,169,047 (GRCm39) G594S possibly damaging Het
Ctsq A T 13: 61,184,941 (GRCm39) D248E probably benign Het
Ep400 A T 5: 110,903,771 (GRCm39) I276K possibly damaging Het
Gbf1 G A 19: 46,272,688 (GRCm39) probably null Het
Gldn T A 9: 54,245,748 (GRCm39) I433N probably damaging Het
Gm136 T A 4: 34,752,322 (GRCm39) E69V probably damaging Het
Gm28177 T C 1: 52,121,738 (GRCm39) probably null Het
Gtf2h2 A G 13: 100,617,506 (GRCm39) probably benign Het
Ints12 T C 3: 132,806,570 (GRCm39) probably null Het
Ltbp4 T C 7: 27,026,158 (GRCm39) D615G probably damaging Het
Mgme1 C T 2: 144,113,909 (GRCm39) P4S probably benign Het
Nae1 A G 8: 105,252,910 (GRCm39) probably null Het
Nup133 G A 8: 124,636,733 (GRCm39) A956V probably damaging Het
Oacyl T A 18: 65,882,711 (GRCm39) M529K possibly damaging Het
Osbpl1a T A 18: 12,890,683 (GRCm39) E519V possibly damaging Het
Pacs1 A T 19: 5,203,726 (GRCm39) V333E probably damaging Het
Pik3c3 T G 18: 30,436,131 (GRCm39) probably benign Het
Polh C T 17: 46,483,169 (GRCm39) probably benign Het
Pprc1 T C 19: 46,051,087 (GRCm39) S206P possibly damaging Het
Rab20 A G 8: 11,504,212 (GRCm39) Y163H probably benign Het
Sde2 T A 1: 180,683,383 (GRCm39) C46S possibly damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Spata20 T G 11: 94,369,943 (GRCm39) L784F probably damaging Het
Tnnt1 A C 7: 4,510,549 (GRCm39) M224R possibly damaging Het
Trank1 T C 9: 111,178,358 (GRCm39) F349L possibly damaging Het
Ttf1 T C 2: 28,963,895 (GRCm39) probably benign Het
Usp54 T A 14: 20,623,905 (GRCm39) S651C probably damaging Het
Vps45 A G 3: 95,907,378 (GRCm39) *571R probably null Het
Yod1 G A 1: 130,646,870 (GRCm39) G249E probably damaging Het
Ythdc2 A G 18: 44,997,428 (GRCm39) Y340C probably damaging Het
Zfp366 G A 13: 99,383,080 (GRCm39) probably benign Het
Zfp648 T A 1: 154,079,935 (GRCm39) D31E 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
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
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 2012-04-20