Incidental Mutation 'IGL03107:Ppp6r2'
ID 419018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp6r2
Ensembl Gene ENSMUSG00000036561
Gene Name protein phosphatase 6, regulatory subunit 2
Synonyms Pp6r2, 8430411H09Rik, 1110033O10Rik, B230107H12Rik, Saps2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL03107
Quality Score
Status
Chromosome 15
Chromosomal Location 89095756-89171213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89152748 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 296 (R296S)
Ref Sequence ENSEMBL: ENSMUSP00000154087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088788] [ENSMUST00000228284]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000088788
AA Change: R296S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000086167
Gene: ENSMUSG00000036561
AA Change: R296S

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 probably damaging
Transcript: ENSMUST00000228284
AA Change: R296S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
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 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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T C 16: 19,702,518 (GRCm39) noncoding transcript Het
Angpt4 A G 2: 151,785,342 (GRCm39) M453V probably benign Het
Atr T A 9: 95,779,783 (GRCm39) D1380E probably benign Het
Carmil1 A T 13: 24,278,438 (GRCm39) M177K probably damaging Het
Cenpk T A 13: 104,379,280 (GRCm39) I203N probably damaging Het
Cerk A T 15: 86,027,014 (GRCm39) N165K probably benign Het
Col27a1 G A 4: 63,242,869 (GRCm39) probably benign Het
Crb2 A T 2: 37,681,428 (GRCm39) D757V probably benign Het
Csnk1a1 A G 18: 61,701,376 (GRCm39) D91G probably damaging Het
Dnajc6 G T 4: 101,474,057 (GRCm39) W486L probably damaging Het
Elmod1 C T 9: 53,841,507 (GRCm39) probably benign Het
Ercc3 G T 18: 32,381,360 (GRCm39) R392L possibly damaging Het
Fam135b C T 15: 71,335,410 (GRCm39) V595I probably benign Het
Fem1al T A 11: 29,774,360 (GRCm39) I366F probably damaging Het
Fermt1 A T 2: 132,775,059 (GRCm39) S256T probably damaging Het
Fstl5 G T 3: 76,443,618 (GRCm39) C321F probably damaging Het
Gpatch1 T G 7: 35,002,742 (GRCm39) N256T probably benign Het
Gpd2 T A 2: 57,245,581 (GRCm39) S425R probably damaging Het
Igkv4-57-1 T G 6: 69,521,574 (GRCm39) M43L probably benign Het
Itgae A G 11: 73,004,427 (GRCm39) Q238R probably damaging Het
Lats1 T A 10: 7,588,510 (GRCm39) D1042E probably benign Het
Lcn8 G A 2: 25,545,377 (GRCm39) G156D probably damaging Het
Loxl4 A C 19: 42,593,718 (GRCm39) V224G probably benign Het
Lrp2 T A 2: 69,285,177 (GRCm39) D3827V probably damaging Het
Neb C A 2: 52,073,837 (GRCm39) R231S probably benign Het
Or2g1 G A 17: 38,106,679 (GRCm39) V115I probably benign Het
Or5b105 A T 19: 13,080,401 (GRCm39) M89K probably benign Het
Or6c211 A G 10: 129,505,809 (GRCm39) M193T probably benign Het
Or6d13 T G 6: 116,517,900 (GRCm39) M162R possibly damaging Het
Or8g54 T G 9: 39,707,475 (GRCm39) M268R probably benign Het
Pappa T G 4: 65,122,940 (GRCm39) S758R probably damaging Het
Pced1a G A 2: 130,264,755 (GRCm39) T61I possibly damaging Het
Pik3cg T C 12: 32,250,594 (GRCm39) D731G probably damaging Het
Plxnb1 G A 9: 108,934,054 (GRCm39) D761N probably benign Het
Pmp22 T C 11: 63,049,135 (GRCm39) V126A probably benign Het
Prkcq A C 2: 11,265,597 (GRCm39) H438P probably damaging Het
Ryr1 T A 7: 28,774,624 (GRCm39) Y2339F probably damaging Het
Scaper T C 9: 55,765,686 (GRCm39) probably benign Het
Scp2 T A 4: 107,955,312 (GRCm39) I144F probably benign Het
Secisbp2 T C 13: 51,806,793 (GRCm39) probably null Het
Sema5a T A 15: 32,669,554 (GRCm39) Y693N probably damaging Het
Sin3b T A 8: 73,480,213 (GRCm39) I905K probably damaging Het
Slc13a3 T A 2: 165,279,227 (GRCm39) M195L probably benign Het
Strada A G 11: 106,054,863 (GRCm39) probably benign Het
Stx18 G A 5: 38,293,655 (GRCm39) V294M probably damaging Het
Tbpl2 A T 2: 23,983,845 (GRCm39) N197K probably benign Het
Tdrd9 A T 12: 112,009,274 (GRCm39) H1060L probably damaging Het
Tm4sf5 G A 11: 70,396,223 (GRCm39) V23M possibly damaging Het
Tmem54 C A 4: 129,004,705 (GRCm39) L187I probably damaging Het
Tmprss5 A G 9: 49,024,528 (GRCm39) H281R possibly damaging Het
Trim30c A G 7: 104,031,820 (GRCm39) Y332H possibly damaging Het
Uba6 T A 5: 86,275,633 (GRCm39) probably benign Het
Unc80 C A 1: 66,670,613 (GRCm39) P1912Q probably 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
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
R6026:Ppp6r2 UTSW 15 89,167,113 (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
Posted On 2016-08-02