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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |