Incidental Mutation 'R2927:Ppp4r2'
| ID |
255795 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2927 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
100810596-100846891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100838426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 115
(Y115H)
|
| 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: Y115H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066314
Gene: ENSMUSG00000052144
AA Change: Y115H
| 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 |
unknown
Transcript: ENSMUST00000203580
AA Change: Y45H
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000203940
AA Change: Y59H
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204001
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Dsc2 |
T |
C |
18: 20,178,558 (GRCm39) |
Y282C |
probably damaging |
Het |
| Dsg1b |
C |
A |
18: 20,538,308 (GRCm39) |
P638Q |
probably benign |
Het |
| Eea1 |
C |
T |
10: 95,849,220 (GRCm39) |
S486L |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ift22 |
A |
G |
5: 136,941,799 (GRCm39) |
D147G |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,236,848 (GRCm39) |
Q1111L |
probably benign |
Het |
| Ikzf1 |
T |
C |
11: 11,719,324 (GRCm39) |
Y344H |
probably damaging |
Het |
| Kif1c |
T |
A |
11: 70,617,140 (GRCm39) |
C813S |
probably benign |
Het |
| Krt16 |
A |
G |
11: 100,139,625 (GRCm39) |
L31P |
unknown |
Het |
| Lrrc49 |
G |
A |
9: 60,501,029 (GRCm39) |
R633* |
probably null |
Het |
| Mllt6 |
T |
A |
11: 97,571,602 (GRCm39) |
F1080I |
probably damaging |
Het |
| Or52ae7 |
A |
G |
7: 103,120,089 (GRCm39) |
Y281C |
probably damaging |
Het |
| Plxnc1 |
T |
G |
10: 94,629,154 (GRCm39) |
|
probably null |
Het |
| Pramel1 |
T |
A |
4: 143,125,388 (GRCm39) |
D437E |
probably benign |
Het |
| Pstpip2 |
C |
A |
18: 77,949,589 (GRCm39) |
Q133K |
probably damaging |
Het |
| Ptgs2 |
A |
T |
1: 149,977,011 (GRCm39) |
T41S |
possibly damaging |
Het |
| Slc36a1 |
G |
A |
11: 55,123,201 (GRCm39) |
A389T |
probably damaging |
Het |
| Vav2 |
A |
G |
2: 27,316,403 (GRCm39) |
V30A |
probably damaging |
Het |
| Vmn1r119 |
C |
T |
7: 20,746,056 (GRCm39) |
V109I |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATGGCGGCTTGATAAAGC -3'
(R):5'- TCCACTCAAGTTTCCAAAGTTGTG -3'
Sequencing Primer
(F):5'- CGGCTTGATAAAGCTGTGATGCAC -3'
(R):5'- CCCACAGTGATGTTTACAATGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation