Incidental Mutation 'R0362:Ppp6r3'
ID 36302
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 038568-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R0362 (G1)
Quality Score 165
Status Validated
Chromosome 19
Chromosomal Location 3504928-3625749 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3528285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 542 (L542S)
Ref Sequence ENSEMBL: ENSMUSP00000109630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025846] [ENSMUST00000113997] [ENSMUST00000172362]
AlphaFold Q922D4
Predicted Effect probably benign
Transcript: ENSMUST00000025846
SMART Domains Protein: ENSMUSP00000025846
Gene: ENSMUSG00000024908

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 probably damaging
Transcript: ENSMUST00000113997
AA Change: L542S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109630
Gene: ENSMUSG00000024908
AA Change: L542S

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
SMART Domains Protein: ENSMUSP00000131084
Gene: ENSMUSG00000024908

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 possibly damaging
Transcript: ENSMUST00000225624
AA Change: L34S

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
Meta Mutation Damage Score 0.3084 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 99% (104/105)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,563,261 (GRCm39) Q401R probably benign Het
Acp3 A G 9: 104,191,626 (GRCm39) F220S probably damaging Het
Adam7 A G 14: 68,747,105 (GRCm39) probably benign Het
Adamts6 A G 13: 104,526,584 (GRCm39) probably null Het
Ascc3 T C 10: 50,625,051 (GRCm39) probably benign Het
Atg10 T C 13: 91,189,109 (GRCm39) probably null Het
Atm T C 9: 53,370,138 (GRCm39) I2325V possibly damaging Het
Btnl9 C T 11: 49,060,443 (GRCm39) R435H possibly damaging Het
Ccdc180 A G 4: 45,923,551 (GRCm39) K1111E probably damaging Het
Ciao2b T C 8: 105,368,222 (GRCm39) D34G probably null Het
Col11a2 T A 17: 34,281,420 (GRCm39) probably null Het
Ctcfl A G 2: 172,960,236 (GRCm39) W116R probably damaging Het
Ctsk A T 3: 95,408,255 (GRCm39) Y37F probably damaging Het
Daam2 G C 17: 49,787,813 (GRCm39) probably null Het
Dcdc2b T C 4: 129,504,031 (GRCm39) probably null Het
Ddx28 C T 8: 106,737,926 (GRCm39) R44Q probably damaging Het
Dhx29 T A 13: 113,099,393 (GRCm39) N1139K probably benign Het
Dnah17 A T 11: 117,989,365 (GRCm39) M1281K probably benign Het
Dnah6 T C 6: 73,185,592 (GRCm39) S110G probably benign Het
Drc7 T C 8: 95,799,483 (GRCm39) Y553H probably benign Het
Dync2h1 T C 9: 7,005,487 (GRCm39) probably null Het
Ecm1 A G 3: 95,644,369 (GRCm39) I152T possibly damaging Het
Edc4 C G 8: 106,613,407 (GRCm39) P307R probably damaging Het
Eeig2 C T 3: 108,887,497 (GRCm39) E256K probably benign Het
Egr1 A G 18: 34,996,366 (GRCm39) T383A possibly damaging Het
Eml2 A G 7: 18,924,731 (GRCm39) probably null Het
Eno4 A G 19: 58,932,056 (GRCm39) probably benign Het
Erbb4 A T 1: 68,369,429 (GRCm39) I404K probably damaging Het
Exoc7 G T 11: 116,186,488 (GRCm39) T310K probably benign Het
Fam83e G T 7: 45,376,393 (GRCm39) V369L probably benign Het
Fancc A T 13: 63,545,970 (GRCm39) I91K possibly damaging Het
Fbn1 T C 2: 125,151,697 (GRCm39) Q2519R probably damaging Het
Fhod3 T A 18: 25,223,133 (GRCm39) C826* probably null Het
Foxi3 A G 6: 70,933,612 (GRCm39) D33G probably benign Het
Gcn1 T C 5: 115,714,167 (GRCm39) probably benign Het
Gm14221 T C 2: 160,410,310 (GRCm39) noncoding transcript Het
Golga4 T A 9: 118,384,853 (GRCm39) H630Q probably benign Het
Gpat4 T C 8: 23,670,949 (GRCm39) S88G probably benign Het
Gucy2d A T 7: 98,092,892 (GRCm39) S90C probably damaging Het
Has2 A C 15: 56,545,057 (GRCm39) C182G probably damaging Het
Heatr5a A T 12: 51,935,644 (GRCm39) S1647R probably damaging Het
Ifi35 T C 11: 101,348,038 (GRCm39) V48A probably benign Het
Lig1 T A 7: 13,030,730 (GRCm39) probably benign Het
Magi2 A G 5: 19,432,573 (GRCm39) K96R probably damaging Het
Map7d1 G T 4: 126,128,787 (GRCm39) P462Q probably damaging Het
Mdn1 A T 4: 32,746,439 (GRCm39) probably null Het
Mfsd4a A T 1: 131,987,013 (GRCm39) V105E probably damaging Het
Mrpl53 C T 6: 83,086,526 (GRCm39) R77C probably damaging Het
Mtnr1b C T 9: 15,785,600 (GRCm39) V53M probably damaging Het
Myo9b T C 8: 71,800,414 (GRCm39) W990R probably damaging Het
Myt1 A T 2: 181,405,186 (GRCm39) probably benign Het
Nf1 C T 11: 79,427,704 (GRCm39) A1766V probably damaging Het
Nlrp3 T C 11: 59,439,623 (GRCm39) V400A possibly damaging Het
Nup205 T A 6: 35,173,649 (GRCm39) probably null Het
Nxf1 T C 19: 8,741,515 (GRCm39) probably null Het
Or7a36 A T 10: 78,820,220 (GRCm39) M199L probably benign Het
P4hb T C 11: 120,454,162 (GRCm39) K311E probably benign Het
Pafah1b1 T C 11: 74,574,457 (GRCm39) N243S probably benign Het
Parp8 G A 13: 117,061,504 (GRCm39) Q141* probably null Het
Pkd2l2 A C 18: 34,568,380 (GRCm39) D543A probably benign Het
Pld5 A T 1: 175,803,146 (GRCm39) L311* probably null Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plpp5 A T 8: 26,214,219 (GRCm39) T144S probably benign Het
Prkar2b A T 12: 32,037,973 (GRCm39) probably null Het
Psmg1 A T 16: 95,789,171 (GRCm39) S129T possibly damaging Het
Radil T C 5: 142,529,582 (GRCm39) D38G probably benign Het
Ric1 T C 19: 29,578,411 (GRCm39) probably null Het
Rp1l1 T A 14: 64,268,515 (GRCm39) L1367* probably null Het
Rxfp1 A T 3: 79,645,100 (GRCm39) M1K probably null Het
Serpina6 G T 12: 103,618,208 (GRCm39) L202I probably damaging Het
Simc1 T C 13: 54,676,280 (GRCm39) I98T probably damaging Het
Slc17a6 A G 7: 51,308,519 (GRCm39) Y281C probably damaging Het
Slc26a11 T A 11: 119,270,767 (GRCm39) probably benign Het
Slc34a1 T A 13: 55,550,711 (GRCm39) probably null Het
Slfn10-ps T A 11: 82,926,600 (GRCm39) noncoding transcript Het
Sohlh2 A G 3: 55,115,163 (GRCm39) N383D probably damaging Het
Spag6 T A 2: 18,715,302 (GRCm39) L27H probably damaging Het
Sptlc3 A G 2: 139,388,475 (GRCm39) probably benign Het
St3gal4 T A 9: 34,964,469 (GRCm39) K199* probably null Het
Stat5a T A 11: 100,772,909 (GRCm39) D712E probably benign Het
Stmn2 A T 3: 8,610,750 (GRCm39) D78V probably damaging Het
Stpg1 C T 4: 135,233,777 (GRCm39) P20S possibly damaging Het
Taf2 A T 15: 54,909,325 (GRCm39) V640E probably damaging Het
Tbce T C 13: 14,172,747 (GRCm39) E501G probably benign Het
Tecpr2 A G 12: 110,935,374 (GRCm39) S1398G probably damaging Het
Tenm4 T A 7: 96,421,242 (GRCm39) Y598* probably null Het
Ticrr A G 7: 79,327,088 (GRCm39) S599G probably damaging Het
Tnc A C 4: 63,935,679 (GRCm39) V419G probably damaging Het
Trappc1 C A 11: 69,216,402 (GRCm39) P110T probably benign Het
Trbv12-2 C T 6: 41,095,993 (GRCm39) probably benign Het
Ttbk2 A T 2: 120,576,264 (GRCm39) N835K possibly damaging Het
Tubgcp5 A G 7: 55,450,432 (GRCm39) D181G probably damaging Het
Tut1 T C 19: 8,932,891 (GRCm39) Y75H possibly damaging Het
Ulk2 C A 11: 61,678,412 (GRCm39) C769F probably benign Het
Vdac1 T C 11: 52,265,800 (GRCm39) probably benign Het
Vmn2r124 T C 17: 18,284,486 (GRCm39) probably null Het
Vps8 T C 16: 21,426,977 (GRCm39) probably benign Het
Wdr35 T C 12: 9,045,625 (GRCm39) probably benign Het
Zdhhc7 T A 8: 120,813,386 (GRCm39) E141V probably null Het
Zfp12 C A 5: 143,230,978 (GRCm39) S435Y probably damaging Het
Zfp974 A T 7: 27,626,819 (GRCm39) probably benign Het
Zfyve9 T A 4: 108,538,166 (GRCm39) K1033N probably damaging Het
Zswim8 T A 14: 20,772,013 (GRCm39) S1572T 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTATCAGCCTACCTGGCAAGGTC -3'
(R):5'- TGCTATTCCTGAGGAGCGAAAACAC -3'

Sequencing Primer
(F):5'- GCAAGGTCCCAGACCTCTC -3'
(R):5'- tttgtttgtttgtattttggttttgg -3'
Posted On 2013-05-09