Incidental Mutation 'R5577:Ppp2r5d'
ID 437277
Institutional Source Beutler Lab
Gene Symbol Ppp2r5d
Ensembl Gene ENSMUSG00000059409
Gene Name protein phosphatase 2, regulatory subunit B', delta
Synonyms TEG-271, Tex271, B'delta
MMRRC Submission 043132-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R5577 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 46993917-47015952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46998901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 54 (S54G)
Ref Sequence ENSEMBL: ENSMUSP00000002839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002839] [ENSMUST00000002845]
AlphaFold Q7TNL5
Predicted Effect probably benign
Transcript: ENSMUST00000002839
AA Change: S54G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000002839
Gene: ENSMUSG00000059409
AA Change: S54G

DomainStartEndE-ValueType
low complexity region 37 59 N/A INTRINSIC
Pfam:B56 95 505 6.2e-201 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000002845
SMART Domains Protein: ENSMUSP00000002845
Gene: ENSMUSG00000002768

DomainStartEndE-ValueType
Pfam:MEA1 1 174 1.6e-121 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181301
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a delta isoform of the regulatory subunit B56 subfamily. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene-trap allele exhibit lethality, while heterozygous mice display decreased prepulse inhibition. Mice homozygous for a targeted knock-out allele exhibit decreased thermal nociception threshold, impaired coordination, and increasedlatency to removing an adhesive sticker. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A C 7: 127,835,826 (GRCm39) Y256D probably damaging Het
Acr C A 15: 89,458,441 (GRCm39) T374K probably benign Het
Akt2 G A 7: 27,335,731 (GRCm39) G335R probably damaging Het
Ccn3 T A 15: 54,615,897 (GRCm39) I354N possibly damaging Het
Cd177 A T 7: 24,444,562 (GRCm39) F673Y probably damaging Het
Clmn G T 12: 104,743,329 (GRCm39) S879R probably damaging Het
Csrp3 T C 7: 48,489,225 (GRCm39) H19R possibly damaging Het
Dmkn T C 7: 30,463,971 (GRCm39) S137P probably damaging Het
Eno1 C A 4: 150,331,067 (GRCm39) Y236* probably null Het
Enpp7 T A 11: 118,882,953 (GRCm39) N342K probably benign Het
Fancm T A 12: 65,177,185 (GRCm39) probably benign Het
Fshr A T 17: 89,293,351 (GRCm39) D442E probably benign Het
Gm3898 T A 9: 43,741,362 (GRCm39) noncoding transcript Het
Hdac7 A T 15: 97,709,336 (GRCm39) S43T probably benign Het
Herc1 T C 9: 66,389,263 (GRCm39) C3927R probably damaging Het
Klc4 G T 17: 46,946,355 (GRCm39) A490D probably damaging Het
Lcn9 T A 2: 25,713,663 (GRCm39) I63N probably damaging Het
Lgalsl G A 11: 20,779,316 (GRCm39) Q110* probably null Het
Lrp1b A T 2: 40,765,135 (GRCm39) M2783K possibly damaging Het
Lrrk2 A T 15: 91,649,948 (GRCm39) Y1695F probably damaging Het
Myo1e G A 9: 70,277,753 (GRCm39) E817K probably benign Het
Nav3 A T 10: 109,605,264 (GRCm39) D936E probably damaging Het
Necab3 T C 2: 154,387,076 (GRCm39) probably null Het
Nlrp1a T A 11: 70,990,400 (GRCm39) I951F probably damaging Het
Or5v1 T A 17: 37,810,493 (GRCm39) I317K probably benign Het
Or8b52 A G 9: 38,576,297 (GRCm39) I281T possibly damaging Het
Prdx6 A G 1: 161,071,255 (GRCm39) S146P probably damaging Het
Sec24a A T 11: 51,625,448 (GRCm39) H258Q probably benign Het
Sec31a T C 5: 100,550,133 (GRCm39) T194A possibly damaging Het
Sqstm1 T C 11: 50,098,266 (GRCm39) I167V probably benign Het
Tas1r3 T C 4: 155,946,522 (GRCm39) E361G probably benign Het
Tlr1 T A 5: 65,083,428 (GRCm39) Q383L possibly damaging Het
Trappc8 G C 18: 20,969,836 (GRCm39) Y1051* probably null Het
Vmn2r2 T A 3: 64,024,416 (GRCm39) M722L probably benign Het
Vmn2r43 T C 7: 8,247,811 (GRCm39) H784R probably damaging Het
Zfp534 T G 4: 147,759,173 (GRCm39) K499Q probably damaging Het
Other mutations in Ppp2r5d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Ppp2r5d APN 17 46,996,443 (GRCm39) critical splice donor site probably null
IGL01570:Ppp2r5d APN 17 46,998,843 (GRCm39) missense possibly damaging 0.64
IGL02504:Ppp2r5d APN 17 47,011,019 (GRCm39) missense probably benign 0.34
R0620:Ppp2r5d UTSW 17 46,994,944 (GRCm39) missense probably benign
R0665:Ppp2r5d UTSW 17 46,997,330 (GRCm39) missense probably damaging 1.00
R1584:Ppp2r5d UTSW 17 46,995,610 (GRCm39) missense probably benign 0.45
R1989:Ppp2r5d UTSW 17 46,995,025 (GRCm39) missense probably benign 0.00
R4261:Ppp2r5d UTSW 17 46,998,007 (GRCm39) nonsense probably null
R5717:Ppp2r5d UTSW 17 46,998,820 (GRCm39) missense probably damaging 0.99
R6266:Ppp2r5d UTSW 17 46,996,629 (GRCm39) splice site probably null
R6491:Ppp2r5d UTSW 17 46,996,509 (GRCm39) missense probably damaging 1.00
R6792:Ppp2r5d UTSW 17 47,015,782 (GRCm39) missense probably benign
R7060:Ppp2r5d UTSW 17 46,998,279 (GRCm39) missense possibly damaging 0.63
R7100:Ppp2r5d UTSW 17 46,996,608 (GRCm39) missense probably benign 0.03
R7197:Ppp2r5d UTSW 17 46,996,527 (GRCm39) missense probably damaging 0.99
R7231:Ppp2r5d UTSW 17 46,994,986 (GRCm39) missense probably benign 0.00
R7237:Ppp2r5d UTSW 17 46,997,206 (GRCm39) missense possibly damaging 0.86
R7420:Ppp2r5d UTSW 17 46,998,507 (GRCm39) missense probably null 1.00
R7832:Ppp2r5d UTSW 17 46,995,472 (GRCm39) missense probably benign 0.00
R8129:Ppp2r5d UTSW 17 46,995,263 (GRCm39) missense probably benign
R8682:Ppp2r5d UTSW 17 46,997,989 (GRCm39) missense probably benign 0.35
R9029:Ppp2r5d UTSW 17 46,998,906 (GRCm39) missense probably benign 0.00
R9545:Ppp2r5d UTSW 17 46,995,687 (GRCm39) missense probably damaging 1.00
R9548:Ppp2r5d UTSW 17 46,998,527 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTGCACCTCCCCATCTATAG -3'
(R):5'- GGGATAGCTCACTACCTCTCTAC -3'

Sequencing Primer
(F):5'- TATAGTACCCCGTTTCCCCAAAG -3'
(R):5'- TACCTCTCTACAAGCAAGAATAGGTG -3'
Posted On 2016-10-26