Incidental Mutation 'IGL02410:Ppp1r15a'
| ID |
292248 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ppp1r15a
|
| Ensembl Gene |
ENSMUSG00000040435 |
| Gene Name |
protein phosphatase 1, regulatory subunit 15A |
| Synonyms |
Gadd34, Myd116 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
IGL02410
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45172341-45175692 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45173479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 443
(V443A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024233]
[ENSMUST00000042105]
[ENSMUST00000051810]
[ENSMUST00000085331]
[ENSMUST00000107758]
[ENSMUST00000107759]
[ENSMUST00000107762]
[ENSMUST00000167273]
[ENSMUST00000211212]
[ENSMUST00000211227]
[ENSMUST00000210868]
[ENSMUST00000210813]
|
| AlphaFold |
P17564 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024233
|
| SMART Domains |
Protein: ENSMUSP00000024233
Gene: ENSMUSG00000023467
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
220 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
315 |
556 |
1.1e-116 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042105
AA Change: V443A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435
AA Change: V443A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
234 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
245 |
333 |
1.03e-15 |
PROSPERO |
|
low complexity region
|
334 |
351 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
357 |
447 |
1.03e-15 |
PROSPERO |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
Pfam:PP1c_bdg
|
536 |
612 |
8.2e-15 |
PFAM |
|
low complexity region
|
636 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051810
|
| SMART Domains |
Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
27 |
N/A |
INTRINSIC |
|
PH
|
55 |
155 |
8.18e-19 |
SMART |
|
low complexity region
|
162 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
334 |
N/A |
INTRINSIC |
|
coiled coil region
|
376 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
628 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085331
|
| SMART Domains |
Protein: ENSMUSP00000082438
Gene: ENSMUSG00000023467
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
96 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
191 |
432 |
6.2e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107758
|
| SMART Domains |
Protein: ENSMUSP00000103387
Gene: ENSMUSG00000023467
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
203 |
451 |
4.1e-85 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107759
|
| SMART Domains |
Protein: ENSMUSP00000103388
Gene: ENSMUSG00000023467
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
108 |
N/A |
INTRINSIC |
|
Pfam:Tub
|
203 |
444 |
3.4e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107762
|
| SMART Domains |
Protein: ENSMUSP00000103391
Gene: ENSMUSG00000023467
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tub_N
|
39 |
295 |
8.8e-36 |
PFAM |
|
Pfam:Tub
|
315 |
556 |
1.3e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167273
AA Change: V443A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435
AA Change: V443A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
234 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
245 |
333 |
1.03e-15 |
PROSPERO |
|
low complexity region
|
334 |
351 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
357 |
447 |
1.03e-15 |
PROSPERO |
|
low complexity region
|
448 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
530 |
N/A |
INTRINSIC |
|
Pfam:PP1c_bdg
|
531 |
612 |
1.1e-20 |
PFAM |
|
low complexity region
|
636 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211227
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210813
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice show abnormal cellular responses to either ER- or oxidative- stress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
G |
A |
1: 165,337,977 (GRCm39) |
C197Y |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,792,496 (GRCm39) |
|
probably null |
Het |
| Aqr |
A |
G |
2: 113,967,398 (GRCm39) |
V539A |
possibly damaging |
Het |
| Bnip3 |
C |
A |
7: 138,500,528 (GRCm39) |
G21C |
probably damaging |
Het |
| Cul1 |
T |
A |
6: 47,461,948 (GRCm39) |
M37K |
probably damaging |
Het |
| Dazl |
T |
C |
17: 50,600,426 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,735,189 (GRCm39) |
T1056A |
probably benign |
Het |
| Ewsr1 |
A |
G |
11: 5,043,863 (GRCm39) |
|
probably benign |
Het |
| Fam167b |
G |
A |
4: 129,472,011 (GRCm39) |
A53V |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,141 (GRCm39) |
Y2287C |
probably damaging |
Het |
| H2-M10.3 |
A |
T |
17: 36,677,428 (GRCm39) |
H283Q |
probably damaging |
Het |
| Hectd2 |
C |
T |
19: 36,572,613 (GRCm39) |
R39* |
probably null |
Het |
| Hnrnph3 |
A |
G |
10: 62,851,503 (GRCm39) |
|
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,518,093 (GRCm39) |
V362A |
probably benign |
Het |
| Igkv9-120 |
A |
C |
6: 68,027,027 (GRCm39) |
|
probably benign |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,795,977 (GRCm39) |
T417A |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,490,648 (GRCm39) |
V1307A |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,215,730 (GRCm39) |
E1511G |
probably benign |
Het |
| Nprl3 |
A |
T |
11: 32,217,539 (GRCm39) |
M1K |
probably null |
Het |
| Or9i2 |
A |
G |
19: 13,816,495 (GRCm39) |
I14T |
probably benign |
Het |
| Psmd1 |
T |
G |
1: 86,005,159 (GRCm39) |
L198V |
probably damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,056,938 (GRCm39) |
I566F |
possibly damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,865,269 (GRCm39) |
D719E |
probably damaging |
Het |
| Siah2 |
T |
C |
3: 58,583,468 (GRCm39) |
R273G |
probably damaging |
Het |
| Siglecg |
C |
T |
7: 43,058,253 (GRCm39) |
P47S |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,085,979 (GRCm39) |
S621P |
probably damaging |
Het |
| Spata31e5 |
A |
G |
1: 28,817,712 (GRCm39) |
S107P |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,555,278 (GRCm39) |
A30576S |
probably benign |
Het |
| Ttyh1 |
A |
G |
7: 4,136,898 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,648,194 (GRCm39) |
R4600C |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,167,011 (GRCm39) |
V289M |
probably damaging |
Het |
|
| Other mutations in Ppp1r15a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01982:Ppp1r15a
|
APN |
7 |
45,173,803 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02658:Ppp1r15a
|
APN |
7 |
45,174,091 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03156:Ppp1r15a
|
APN |
7 |
45,174,595 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0179:Ppp1r15a
|
UTSW |
7 |
45,174,424 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0350:Ppp1r15a
|
UTSW |
7 |
45,172,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1220:Ppp1r15a
|
UTSW |
7 |
45,173,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Ppp1r15a
|
UTSW |
7 |
45,173,173 (GRCm39) |
nonsense |
probably null |
|
|
R4436:Ppp1r15a
|
UTSW |
7 |
45,174,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Ppp1r15a
|
UTSW |
7 |
45,174,797 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5822:Ppp1r15a
|
UTSW |
7 |
45,172,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Ppp1r15a
|
UTSW |
7 |
45,173,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6574:Ppp1r15a
|
UTSW |
7 |
45,173,533 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9009:Ppp1r15a
|
UTSW |
7 |
45,174,049 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9142:Ppp1r15a
|
UTSW |
7 |
45,173,920 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9327:Ppp1r15a
|
UTSW |
7 |
45,174,035 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9464:Ppp1r15a
|
UTSW |
7 |
45,174,149 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9539:Ppp1r15a
|
UTSW |
7 |
45,174,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation