Incidental Mutation 'IGL02658:Ppp1r15a'
ID |
302422 |
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 # |
IGL02658
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
45172341-45175692 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45174091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 239
(Y239C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128497
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024233]
[ENSMUST00000042105]
[ENSMUST00000051810]
[ENSMUST00000085331]
[ENSMUST00000107758]
[ENSMUST00000107759]
[ENSMUST00000167273]
[ENSMUST00000210813]
[ENSMUST00000210868]
[ENSMUST00000211212]
[ENSMUST00000211227]
[ENSMUST00000107762]
|
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 benign
Transcript: ENSMUST00000042105
AA Change: Y239C
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000049488 Gene: ENSMUSG00000040435 AA Change: Y239C
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: ENSMUST00000167273
AA Change: Y239C
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000128497 Gene: ENSMUSG00000040435 AA Change: Y239C
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: ENSMUST00000210813
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210868
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211212
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211227
|
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 |
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,843,386 (GRCm39) |
Y946F |
probably benign |
Het |
Abcb4 |
T |
G |
5: 8,984,240 (GRCm39) |
W657G |
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,088,279 (GRCm39) |
|
probably benign |
Het |
Arap3 |
A |
G |
18: 38,124,047 (GRCm39) |
V351A |
probably benign |
Het |
Bpifb9b |
A |
C |
2: 154,153,201 (GRCm39) |
Y89S |
probably benign |
Het |
Carns1 |
C |
T |
19: 4,223,083 (GRCm39) |
C47Y |
probably benign |
Het |
Chd5 |
C |
T |
4: 152,445,050 (GRCm39) |
H344Y |
probably damaging |
Het |
Ctnna2 |
T |
C |
6: 76,957,807 (GRCm39) |
T481A |
probably benign |
Het |
Cyth1 |
T |
A |
11: 118,073,072 (GRCm39) |
D264V |
probably damaging |
Het |
Dph1 |
C |
A |
11: 75,071,461 (GRCm39) |
L311F |
probably benign |
Het |
Eif3l |
A |
G |
15: 78,961,142 (GRCm39) |
D65G |
probably damaging |
Het |
Gtf2a1l |
T |
A |
17: 88,976,146 (GRCm39) |
F3Y |
probably benign |
Het |
Hcn4 |
A |
T |
9: 58,766,748 (GRCm39) |
T770S |
unknown |
Het |
Hydin |
A |
T |
8: 111,139,908 (GRCm39) |
I726F |
possibly damaging |
Het |
Klf2 |
A |
G |
8: 73,072,940 (GRCm39) |
I7V |
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,212,662 (GRCm39) |
L633H |
probably damaging |
Het |
Ncoa3 |
A |
G |
2: 165,893,313 (GRCm39) |
D206G |
probably benign |
Het |
Nlrp4a |
T |
G |
7: 26,149,138 (GRCm39) |
D248E |
probably benign |
Het |
Nyap1 |
A |
G |
5: 137,733,746 (GRCm39) |
I429T |
probably damaging |
Het |
Or1j10 |
T |
A |
2: 36,267,072 (GRCm39) |
C95S |
probably damaging |
Het |
Or2p2 |
G |
A |
13: 21,256,982 (GRCm39) |
T163I |
probably damaging |
Het |
Or2t6 |
T |
A |
14: 14,175,732 (GRCm38) |
M117L |
possibly damaging |
Het |
Or51g1 |
A |
G |
7: 102,633,537 (GRCm39) |
M278T |
probably benign |
Het |
Or8s16 |
A |
G |
15: 98,211,237 (GRCm39) |
S65P |
probably damaging |
Het |
Pcf11 |
T |
C |
7: 92,296,254 (GRCm39) |
E1322G |
probably damaging |
Het |
Plcxd2 |
A |
T |
16: 45,792,689 (GRCm39) |
F217I |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,162,346 (GRCm39) |
I1389N |
probably damaging |
Het |
Psma6 |
A |
G |
12: 55,458,996 (GRCm39) |
E126G |
probably benign |
Het |
R3hcc1l |
T |
A |
19: 42,551,141 (GRCm39) |
V46E |
probably damaging |
Het |
Rap1gds1 |
G |
T |
3: 138,663,240 (GRCm39) |
H320N |
probably damaging |
Het |
Sdhaf3 |
A |
G |
6: 7,038,992 (GRCm39) |
M105V |
probably damaging |
Het |
Slc22a26 |
T |
A |
19: 7,765,613 (GRCm39) |
N345I |
probably benign |
Het |
Sncaip |
T |
C |
18: 53,028,027 (GRCm39) |
I412T |
possibly damaging |
Het |
Sorcs1 |
A |
T |
19: 50,178,530 (GRCm39) |
I864N |
probably damaging |
Het |
Spag5 |
C |
T |
11: 78,212,157 (GRCm39) |
Q1062* |
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Szrd1 |
A |
G |
4: 140,867,057 (GRCm39) |
|
probably benign |
Het |
Tns2 |
C |
A |
15: 102,016,231 (GRCm39) |
|
probably benign |
Het |
Trcg1 |
C |
A |
9: 57,149,511 (GRCm39) |
S361* |
probably null |
Het |
Tshz3 |
T |
C |
7: 36,468,583 (GRCm39) |
F191L |
probably damaging |
Het |
Ttc39a |
T |
C |
4: 109,280,090 (GRCm39) |
V124A |
probably damaging |
Het |
Ttf1 |
T |
C |
2: 28,964,023 (GRCm39) |
I633T |
probably damaging |
Het |
Zfp691 |
A |
G |
4: 119,027,704 (GRCm39) |
F176S |
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 |
|
IGL02410:Ppp1r15a
|
APN |
7 |
45,173,479 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |