Incidental Mutation 'R9589:Ppp4r2'
ID 722927
Institutional Source Beutler Lab
Gene Symbol Ppp4r2
Ensembl Gene ENSMUSG00000052144
Gene Name protein phosphatase 4, regulatory subunit 2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9589 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 100810596-100846891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100838409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 109 (T109M)
Ref Sequence ENSEMBL: ENSMUSP00000066314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063854]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000063854
AA Change: T109M

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066314
Gene: ENSMUSG00000052144
AA Change: T109M

DomainStartEndE-ValueType
Pfam:PPP4R2 6 313 9.1e-80 PFAM
low complexity region 364 376 N/A INTRINSIC
low complexity region 393 409 N/A INTRINSIC
Predicted Effect
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a regulatory subunit of the serine/threonine-protein phosphatase 4 complex. In addition to being required for efficient DNA double strand break repair, this complex plays a role in organization of microtubules at centrosomes and processing of spliceosomal snRNPs. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 A G 8: 95,760,093 (GRCm39) D104G possibly damaging Het
Ahnak2 G T 12: 112,746,831 (GRCm39) D1166E Het
C2cd3 T A 7: 100,081,756 (GRCm39) S1133T Het
Ccdc17 A G 4: 116,454,791 (GRCm39) Q168R probably benign Het
Fn1 A T 1: 71,668,941 (GRCm39) I668N probably damaging Het
Fyb2 C A 4: 104,872,833 (GRCm39) N735K probably damaging Het
Gad1 T C 2: 70,416,284 (GRCm39) S248P possibly damaging Het
Gcnt1 G A 19: 17,307,422 (GRCm39) A101V probably benign Het
Herc1 T A 9: 66,372,840 (GRCm39) M3132K possibly damaging Het
Htra3 T C 5: 35,821,409 (GRCm39) I323V probably damaging Het
Ighv11-2 A T 12: 114,012,047 (GRCm39) V56D probably damaging Het
Itga8 C T 2: 12,237,701 (GRCm39) G340R probably damaging Het
Kcnk15 C T 2: 163,700,127 (GRCm39) T122M probably damaging Het
Kif13a G T 13: 46,956,020 (GRCm39) Q658K probably benign Het
Kif13b T C 14: 65,013,759 (GRCm39) I1303T possibly damaging Het
Kifc3 A T 8: 95,861,372 (GRCm39) S94R possibly damaging Het
Lrrc63 A T 14: 75,322,379 (GRCm39) F575Y possibly damaging Het
Map1a T C 2: 121,136,398 (GRCm39) S2405P probably damaging Het
Map2 A G 1: 66,449,753 (GRCm39) T159A probably benign Het
Mgam A T 6: 40,727,519 (GRCm39) I1315F probably damaging Het
Or51a39 T C 7: 102,363,372 (GRCm39) T83A probably damaging Het
Pah T A 10: 87,403,197 (GRCm39) F191I probably damaging Het
Plekhh2 G A 17: 84,854,918 (GRCm39) D51N possibly damaging Het
Rfx7 T C 9: 72,525,122 (GRCm39) S771P possibly damaging Het
Sec11a T C 7: 80,565,899 (GRCm39) *171W probably null Het
Secisbp2l C A 2: 125,589,425 (GRCm39) V708L probably benign Het
Secisbp2l T G 2: 125,589,430 (GRCm39) D706A probably damaging Het
Shpk C T 11: 73,104,267 (GRCm39) P139S possibly damaging Het
Slc6a18 A G 13: 73,816,323 (GRCm39) L352P possibly damaging Het
Slitrk3 T C 3: 72,957,981 (GRCm39) T264A probably benign Het
Smg9 T G 7: 24,120,246 (GRCm39) S407A probably damaging Het
Stmn4 A G 14: 66,595,338 (GRCm39) E121G probably damaging Het
Tmem237 G A 1: 59,159,146 (GRCm39) P10S probably benign Het
Vmn2r73 A G 7: 85,519,659 (GRCm39) I433T probably benign Het
Zfp28 T A 7: 6,392,816 (GRCm39) M164K probably benign Het
Zswim8 A G 14: 20,763,171 (GRCm39) M357V probably damaging Het
Other mutations in Ppp4r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Ppp4r2 APN 6 100,841,706 (GRCm39) nonsense probably null
IGL01674:Ppp4r2 APN 6 100,841,644 (GRCm39) missense possibly damaging 0.95
IGL03270:Ppp4r2 APN 6 100,840,086 (GRCm39) missense probably damaging 1.00
R0462:Ppp4r2 UTSW 6 100,843,518 (GRCm39) missense possibly damaging 0.88
R1279:Ppp4r2 UTSW 6 100,842,879 (GRCm39) nonsense probably null
R1464:Ppp4r2 UTSW 6 100,843,527 (GRCm39) missense probably damaging 1.00
R1464:Ppp4r2 UTSW 6 100,843,527 (GRCm39) missense probably damaging 1.00
R2163:Ppp4r2 UTSW 6 100,842,047 (GRCm39) missense probably damaging 1.00
R2927:Ppp4r2 UTSW 6 100,838,426 (GRCm39) missense probably damaging 1.00
R5229:Ppp4r2 UTSW 6 100,842,176 (GRCm39) missense probably benign 0.25
R6426:Ppp4r2 UTSW 6 100,829,558 (GRCm39) missense probably damaging 1.00
R7078:Ppp4r2 UTSW 6 100,843,274 (GRCm39) missense probably benign 0.01
R7110:Ppp4r2 UTSW 6 100,842,823 (GRCm39) missense probably damaging 0.97
R8241:Ppp4r2 UTSW 6 100,842,044 (GRCm39) missense probably damaging 1.00
R8311:Ppp4r2 UTSW 6 100,843,343 (GRCm39) missense probably benign 0.01
R9130:Ppp4r2 UTSW 6 100,842,113 (GRCm39) missense probably damaging 1.00
X0064:Ppp4r2 UTSW 6 100,843,374 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTGCTCTAAGTGACTCCTACATGC -3'
(R):5'- ATCCCACAGTGATGTTTACAATGC -3'

Sequencing Primer
(F):5'- GCATTCTTCTGTAGCTTAACACATGG -3'
(R):5'- ACAATGCACTGTCAGTTCTCACG -3'
Posted On 2022-08-09