Incidental Mutation 'R6026:Ppp6r2'
ID 480071
Institutional Source Beutler Lab
Gene Symbol Ppp6r2
Ensembl Gene ENSMUSG00000036561
Gene Name protein phosphatase 6, regulatory subunit 2
Synonyms Pp6r2, 8430411H09Rik, 1110033O10Rik, B230107H12Rik, Saps2
MMRRC Submission 044198-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R6026 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 89095756-89171213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89167113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 776 (N776S)
Ref Sequence ENSEMBL: ENSMUSP00000154087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088788] [ENSMUST00000228284]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000088788
AA Change: N776S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000086167
Gene: ENSMUSG00000036561
AA Change: N776S

DomainStartEndE-ValueType
Pfam:SAPS 128 365 1.7e-73 PFAM
Pfam:SAPS 361 534 2.4e-47 PFAM
low complexity region 606 618 N/A INTRINSIC
low complexity region 788 802 N/A INTRINSIC
low complexity region 867 900 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227011
Predicted Effect probably benign
Transcript: ENSMUST00000228284
AA Change: N776S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
Meta Mutation Damage Score 0.0759 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 97% (73/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein phosphatase regulatory subunits, such as SAPS2, modulate the activity of protein phosphatase catalytic subunits by restricting substrate specificity, recruiting substrates, and determining the intracellular localization of the holoenzyme. SAPS2 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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A G 11: 58,316,581 (GRCm39) D187G probably benign Het
4933421I07Rik A T 7: 42,095,708 (GRCm39) M180K probably benign Het
Aatk T C 11: 119,903,190 (GRCm39) H345R possibly damaging Het
Abcc8 T C 7: 45,816,424 (GRCm39) T239A probably benign Het
Abcf3 A G 16: 20,369,320 (GRCm39) E234G probably damaging Het
Actrt2 T C 4: 154,751,047 (GRCm39) D363G possibly damaging Het
Adam1a A T 5: 121,657,425 (GRCm39) C623S probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Barhl2 T A 5: 106,603,474 (GRCm39) K228N probably benign Het
Blvrb A G 7: 27,162,115 (GRCm39) H153R probably damaging Het
Capn9 A G 8: 125,332,601 (GRCm39) D480G probably damaging Het
Cct3 T C 3: 88,219,029 (GRCm39) I182T possibly damaging Het
Clasp2 A G 9: 113,740,646 (GRCm39) N1208D probably benign Het
Col26a1 A G 5: 136,876,354 (GRCm39) C89R probably damaging Het
Cops4 T A 5: 100,690,194 (GRCm39) probably benign Het
Cpox T A 16: 58,491,298 (GRCm39) W170R probably damaging Het
Ddx27 A G 2: 166,875,560 (GRCm39) K656E probably benign Het
Eif4e T C 3: 138,256,661 (GRCm39) I66T probably damaging Het
Ercc3 T C 18: 32,378,974 (GRCm39) probably null Het
Esp38 G A 17: 40,266,032 (GRCm39) C47Y probably damaging Het
Fancd2 T C 6: 113,528,731 (GRCm39) V380A possibly damaging Het
Fbxw7 T A 3: 84,859,948 (GRCm39) probably null Het
Fryl T G 5: 73,257,340 (GRCm39) R736S probably benign Het
Gad2 G A 2: 22,513,748 (GRCm39) V62M probably benign Het
Gigyf2 A G 1: 87,368,454 (GRCm39) T1045A probably damaging Het
Gm13090 T A 4: 151,175,157 (GRCm39) L78* probably null Het
Gm19410 G A 8: 36,279,580 (GRCm39) S1815N probably benign Het
Gm28051 A T 12: 102,686,444 (GRCm39) L72Q unknown Het
Gm44511 T C 6: 128,797,240 (GRCm39) T83A possibly damaging Het
Grk2 C T 19: 4,340,811 (GRCm39) V246I probably damaging Het
Grm7 C T 6: 111,478,500 (GRCm39) Q62* probably null Het
Gsdmc3 T A 15: 63,738,600 (GRCm39) E154V probably damaging Het
Gstz1 A C 12: 87,206,948 (GRCm39) Q114P probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hhip A T 8: 80,699,069 (GRCm39) C666S probably damaging Het
Hif1a A C 12: 73,979,055 (GRCm39) H193P probably damaging Het
Hyal2 A G 9: 107,449,398 (GRCm39) T385A probably benign Het
Ihh T C 1: 74,985,886 (GRCm39) T200A probably benign Het
Iqgap3 T A 3: 87,997,478 (GRCm39) V218E probably damaging Het
Lct A G 1: 128,227,755 (GRCm39) I1246T probably benign Het
Lmo7 T C 14: 102,118,426 (GRCm39) V217A probably benign Het
Lrp1 C T 10: 127,409,272 (GRCm39) D1616N probably damaging Het
Lrrfip2 A T 9: 111,043,239 (GRCm39) T165S probably damaging Het
Morc2b A G 17: 33,356,957 (GRCm39) Y272H possibly damaging Het
Muc16 A G 9: 18,571,154 (GRCm39) M455T unknown Het
Ncapg2 A T 12: 116,406,641 (GRCm39) D939V possibly damaging Het
Ncbp3 T C 11: 72,958,548 (GRCm39) V236A probably benign Het
Obscn T A 11: 58,957,916 (GRCm39) T3595S probably damaging Het
Odf2l T C 3: 144,854,797 (GRCm39) S545P possibly damaging Het
Or3a1 T A 11: 74,225,914 (GRCm39) I48F probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Pdzrn3 A C 6: 101,339,105 (GRCm39) C269G probably benign Het
Pear1 T A 3: 87,664,220 (GRCm39) N278Y probably damaging Het
Phb1 C T 11: 95,562,245 (GRCm39) R41* probably null Het
Pikfyve T C 1: 65,311,856 (GRCm39) V2031A probably damaging Het
Plxna2 A G 1: 194,482,122 (GRCm39) I1465V probably damaging Het
Prkce A T 17: 86,800,658 (GRCm39) E358V probably benign Het
Prl5a1 A T 13: 28,335,247 (GRCm39) I219F probably benign Het
Prss3 T C 6: 41,354,488 (GRCm39) probably null Het
Ptprc A T 1: 137,998,987 (GRCm39) M858K probably damaging Het
Retreg3 T C 11: 100,997,226 (GRCm39) T85A probably damaging Het
Rfc2 T A 5: 134,624,185 (GRCm39) C265S probably damaging Het
Smarcd1 G T 15: 99,603,619 (GRCm39) V256L probably damaging Het
Stat5a T C 11: 100,771,142 (GRCm39) F574L probably damaging Het
Tcirg1 T C 19: 3,947,487 (GRCm39) H624R probably benign Het
Tcstv1a C A 13: 120,355,987 (GRCm39) probably benign Het
Tenm2 C T 11: 35,963,556 (GRCm39) probably null Het
Tomm40 A G 7: 19,444,889 (GRCm39) V164A probably benign Het
Txnl4a T C 18: 80,250,482 (GRCm39) V26A probably damaging Het
Ugt2a3 A T 5: 87,484,336 (GRCm39) F229L probably benign Het
Utp20 T C 10: 88,604,541 (GRCm39) T1785A probably benign Het
Vmn1r22 T A 6: 57,877,390 (GRCm39) I196L probably benign Het
Zfp652 T G 11: 95,640,788 (GRCm39) C238G possibly damaging Het
Other mutations in Ppp6r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Ppp6r2 APN 15 89,170,016 (GRCm39) missense probably benign 0.44
IGL00480:Ppp6r2 APN 15 89,149,452 (GRCm39) splice site probably benign
IGL01061:Ppp6r2 APN 15 89,170,218 (GRCm39) splice site probably benign
IGL01116:Ppp6r2 APN 15 89,166,192 (GRCm39) missense probably damaging 1.00
IGL01317:Ppp6r2 APN 15 89,170,131 (GRCm39) missense possibly damaging 0.62
IGL01947:Ppp6r2 APN 15 89,162,929 (GRCm39) missense probably damaging 1.00
IGL01969:Ppp6r2 APN 15 89,159,713 (GRCm39) missense probably damaging 0.99
IGL01999:Ppp6r2 APN 15 89,154,155 (GRCm39) missense probably benign 0.09
IGL02634:Ppp6r2 APN 15 89,159,680 (GRCm39) nonsense probably null
IGL02697:Ppp6r2 APN 15 89,140,958 (GRCm39) missense probably benign 0.38
IGL02964:Ppp6r2 APN 15 89,143,378 (GRCm39) missense probably damaging 1.00
IGL03107:Ppp6r2 APN 15 89,152,748 (GRCm39) missense probably damaging 0.98
IGL03195:Ppp6r2 APN 15 89,152,758 (GRCm39) missense possibly damaging 0.50
R0020:Ppp6r2 UTSW 15 89,143,342 (GRCm39) missense probably damaging 1.00
R0020:Ppp6r2 UTSW 15 89,143,342 (GRCm39) missense probably damaging 1.00
R0183:Ppp6r2 UTSW 15 89,169,990 (GRCm39) missense probably damaging 0.99
R0745:Ppp6r2 UTSW 15 89,149,445 (GRCm39) critical splice donor site probably null
R0835:Ppp6r2 UTSW 15 89,152,785 (GRCm39) missense possibly damaging 0.90
R0959:Ppp6r2 UTSW 15 89,158,379 (GRCm39) missense possibly damaging 0.81
R1661:Ppp6r2 UTSW 15 89,137,254 (GRCm39) missense possibly damaging 0.96
R1867:Ppp6r2 UTSW 15 89,166,141 (GRCm39) missense probably benign 0.01
R2081:Ppp6r2 UTSW 15 89,166,332 (GRCm39) missense probably benign 0.01
R2102:Ppp6r2 UTSW 15 89,162,949 (GRCm39) missense probably damaging 1.00
R2291:Ppp6r2 UTSW 15 89,159,690 (GRCm39) missense probably damaging 1.00
R2900:Ppp6r2 UTSW 15 89,166,198 (GRCm39) missense probably damaging 1.00
R3805:Ppp6r2 UTSW 15 89,149,842 (GRCm39) missense probably benign 0.30
R3965:Ppp6r2 UTSW 15 89,143,317 (GRCm39) missense probably benign 0.20
R4374:Ppp6r2 UTSW 15 89,149,361 (GRCm39) missense probably damaging 1.00
R4901:Ppp6r2 UTSW 15 89,143,272 (GRCm39) missense possibly damaging 0.88
R5055:Ppp6r2 UTSW 15 89,167,152 (GRCm39) missense probably benign 0.01
R5668:Ppp6r2 UTSW 15 89,164,602 (GRCm39) missense probably damaging 1.00
R5739:Ppp6r2 UTSW 15 89,143,276 (GRCm39) missense probably benign 0.02
R6058:Ppp6r2 UTSW 15 89,137,455 (GRCm39) critical splice donor site probably null
R6488:Ppp6r2 UTSW 15 89,152,741 (GRCm39) missense probably benign 0.12
R6631:Ppp6r2 UTSW 15 89,137,458 (GRCm39) splice site probably null
R6633:Ppp6r2 UTSW 15 89,137,458 (GRCm39) splice site probably null
R6744:Ppp6r2 UTSW 15 89,140,864 (GRCm39) critical splice acceptor site probably null
R7149:Ppp6r2 UTSW 15 89,146,599 (GRCm39) missense probably damaging 1.00
R7754:Ppp6r2 UTSW 15 89,140,904 (GRCm39) missense probably benign 0.12
R8326:Ppp6r2 UTSW 15 89,164,650 (GRCm39) missense probably benign 0.05
R8812:Ppp6r2 UTSW 15 89,167,275 (GRCm39) missense probably benign
R8861:Ppp6r2 UTSW 15 89,143,368 (GRCm39) missense probably damaging 1.00
R8960:Ppp6r2 UTSW 15 89,137,239 (GRCm39) start codon destroyed probably null 1.00
R9224:Ppp6r2 UTSW 15 89,146,599 (GRCm39) missense probably damaging 1.00
R9404:Ppp6r2 UTSW 15 89,152,753 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGCATAACACTCAGGAAGCC -3'
(R):5'- TCTCAGAAGCCATGCAGTGTTC -3'

Sequencing Primer
(F):5'- GAAGCCAACATGTGCCGTCTC -3'
(R):5'- AAGCCATGCAGTGTTCACTGG -3'
Posted On 2017-06-26