Incidental Mutation 'IGL01674:Ppp4r2'
| ID |
103579 |
| 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 # |
IGL01674
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
100810596-100846891 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100841644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 142
(N142D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063854]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063854
AA Change: N142D
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000066314
Gene: ENSMUSG00000052144
AA Change: N142D
| 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: N72D
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203940
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef39 |
A |
G |
4: 43,497,590 (GRCm39) |
L222P |
probably damaging |
Het |
| Art3 |
T |
A |
5: 92,551,473 (GRCm39) |
Y17* |
probably null |
Het |
| Cadps2 |
A |
G |
6: 23,355,851 (GRCm39) |
L859P |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,322,159 (GRCm39) |
Y218H |
probably damaging |
Het |
| Ces5a |
A |
G |
8: 94,228,847 (GRCm39) |
V461A |
probably damaging |
Het |
| Clic4 |
C |
A |
4: 134,966,204 (GRCm39) |
V51L |
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,730,236 (GRCm39) |
L1083P |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,546,307 (GRCm39) |
E328G |
probably damaging |
Het |
| Erap1 |
T |
C |
13: 74,812,350 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
G |
A |
1: 71,645,900 (GRCm39) |
P1527L |
probably damaging |
Het |
| Gm20547 |
T |
A |
17: 35,100,631 (GRCm39) |
Q63L |
probably benign |
Het |
| Gm5089 |
T |
C |
14: 122,673,575 (GRCm39) |
T49A |
unknown |
Het |
| Ippk |
T |
C |
13: 49,602,740 (GRCm39) |
L362S |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,377,593 (GRCm39) |
M138V |
probably benign |
Het |
| Magi3 |
A |
G |
3: 104,013,037 (GRCm39) |
|
probably benign |
Het |
| Mcc |
T |
A |
18: 44,624,223 (GRCm39) |
I266F |
probably benign |
Het |
| Mcph1 |
A |
G |
8: 18,681,535 (GRCm39) |
E224G |
probably damaging |
Het |
| Neurod4 |
A |
T |
10: 130,106,887 (GRCm39) |
L129H |
probably damaging |
Het |
| Or14j5 |
T |
A |
17: 37,920,853 (GRCm39) |
D263V |
probably damaging |
Het |
| Or4c123 |
T |
A |
2: 89,127,014 (GRCm39) |
N200I |
probably damaging |
Het |
| Or5b24 |
T |
C |
19: 12,912,926 (GRCm39) |
S275P |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,721,093 (GRCm39) |
Y142C |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,160,630 (GRCm39) |
I2342N |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,105,787 (GRCm39) |
Q632R |
probably benign |
Het |
| Ppp2r2c |
T |
C |
5: 37,097,570 (GRCm39) |
M252T |
possibly damaging |
Het |
| Prex2 |
G |
T |
1: 11,240,965 (GRCm39) |
K1024N |
probably damaging |
Het |
| Rimklb |
T |
A |
6: 122,436,129 (GRCm39) |
I150F |
probably damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,770,218 (GRCm39) |
Q282R |
probably damaging |
Het |
| Tmem92 |
T |
C |
11: 94,669,519 (GRCm39) |
E148G |
probably damaging |
Het |
| Traf7 |
T |
C |
17: 24,729,349 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,998,623 (GRCm39) |
T1622M |
probably damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,911 (GRCm39) |
S195R |
probably damaging |
Het |
| Vmn2r67 |
C |
T |
7: 84,785,651 (GRCm39) |
V785I |
probably damaging |
Het |
| Ythdc2 |
G |
A |
18: 44,993,471 (GRCm39) |
D839N |
probably benign |
Het |
| Zfp184 |
T |
C |
13: 22,134,395 (GRCm39) |
|
probably benign |
Het |
| Zfp654 |
T |
C |
16: 64,605,004 (GRCm39) |
N525S |
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 |
|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation