Incidental Mutation 'IGL03270:Ppp4r2'
ID 415214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ppp4r2
Ensembl Gene ENSMUSG00000052144
Gene Name protein phosphatase 4, regulatory subunit 2
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03270
Quality Score
Status
Chromosome 6
Chromosomal Location 100810596-100846891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 100840086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 72 (N72K)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063854]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000063854
AA Change: N128K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000066314
Gene: ENSMUSG00000052144
AA Change: N128K

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 noncoding transcript
Transcript: ENSMUST00000203067
Predicted Effect probably damaging
Transcript: ENSMUST00000203580
AA Change: N58K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000203940
AA Change: N72K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204001
Coding Region Coverage
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctnnd1 A T 2: 84,440,071 (GRCm39) probably null Het
Fcmr A T 1: 130,803,779 (GRCm39) R194S possibly damaging Het
Fmo2 A G 1: 162,709,595 (GRCm39) F264S probably damaging Het
Gfra2 A G 14: 71,163,344 (GRCm39) D209G possibly damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Iigp1c A G 18: 60,378,548 (GRCm39) K28E probably benign Het
Kifap3 T A 1: 163,676,302 (GRCm39) M419K probably benign Het
Lgr6 A C 1: 134,925,442 (GRCm39) I133S probably damaging Het
Med13l A C 5: 118,869,495 (GRCm39) N811T probably damaging Het
Or4c118 A G 2: 88,975,089 (GRCm39) F93L probably damaging Het
Or6k2 T A 1: 173,987,119 (GRCm39) M260K probably benign Het
Pappa2 T A 1: 158,592,637 (GRCm39) D1580V possibly damaging Het
Prr27 T C 5: 87,983,537 (GRCm39) probably benign Het
Rad51d A G 11: 82,772,420 (GRCm39) probably benign Het
Rel T C 11: 23,692,584 (GRCm39) N483S probably benign Het
Scn9a A G 2: 66,314,358 (GRCm39) F1776L probably damaging Het
Slco5a1 G A 1: 12,942,252 (GRCm39) T798I probably benign Het
Ttn T C 2: 76,606,811 (GRCm39) D18033G probably damaging Het
Vmn1r46 T A 6: 89,953,756 (GRCm39) S202T probably damaging Het
Vmn2r110 T G 17: 20,803,778 (GRCm39) M266L probably benign Het
Vmn2r26 A T 6: 124,027,778 (GRCm39) D506V probably benign Het
Zbtb1 T C 12: 76,432,289 (GRCm39) S92P possibly 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
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
R9589:Ppp4r2 UTSW 6 100,838,409 (GRCm39) missense probably damaging 0.98
X0064:Ppp4r2 UTSW 6 100,843,374 (GRCm39) missense probably benign 0.01
Posted On 2016-08-02