Incidental Mutation 'R0350:Ppp1r15a'
| ID |
29651 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r15a
|
| Ensembl Gene |
ENSMUSG00000040435 |
| Gene Name |
protein phosphatase 1, regulatory subunit 15A |
| Synonyms |
Gadd34, Myd116 |
| MMRRC Submission |
038557-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R0350 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45172341-45175692 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45172442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 650
(L650Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024233]
[ENSMUST00000042105]
[ENSMUST00000051810]
[ENSMUST00000085331]
[ENSMUST00000107758]
[ENSMUST00000107759]
[ENSMUST00000107762]
[ENSMUST00000167273]
[ENSMUST00000211212]
[ENSMUST00000211227]
[ENSMUST00000210813]
[ENSMUST00000210868]
|
| 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: L650Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435
AA Change: L650Q
| 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: L650Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435
AA Change: L650Q
| 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 |
possibly damaging
Transcript: ENSMUST00000211212
AA Change: L96Q
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211227
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210813
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210868
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
A |
8: 10,037,600 (GRCm39) |
Y66N |
probably damaging |
Het |
| Apol6 |
C |
T |
15: 76,935,147 (GRCm39) |
Q139* |
probably null |
Het |
| Armh1 |
C |
A |
4: 117,072,753 (GRCm39) |
E244* |
probably null |
Het |
| Cd1d1 |
A |
T |
3: 86,904,880 (GRCm39) |
H219Q |
probably benign |
Het |
| Cdca2 |
A |
G |
14: 67,950,568 (GRCm39) |
L121P |
probably benign |
Het |
| Cdin1 |
T |
C |
2: 115,607,411 (GRCm39) |
Y255H |
possibly damaging |
Het |
| Cog4 |
T |
A |
8: 111,580,328 (GRCm39) |
L133I |
possibly damaging |
Het |
| Csf1 |
T |
C |
3: 107,655,922 (GRCm39) |
M370V |
probably benign |
Het |
| Ddi2 |
G |
A |
4: 141,412,834 (GRCm39) |
T26M |
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,391,507 (GRCm39) |
D32G |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,581,706 (GRCm39) |
V16A |
probably benign |
Het |
| Exd1 |
T |
C |
2: 119,354,047 (GRCm39) |
N337S |
possibly damaging |
Het |
| Flii |
T |
C |
11: 60,612,683 (GRCm39) |
D227G |
probably damaging |
Het |
| Hsf1 |
A |
G |
15: 76,384,679 (GRCm39) |
T485A |
probably benign |
Het |
| Igfn1 |
G |
A |
1: 135,884,505 (GRCm39) |
R2614* |
probably null |
Het |
| Iqch |
T |
C |
9: 63,408,158 (GRCm39) |
T630A |
probably benign |
Het |
| Itgal |
T |
A |
7: 126,921,253 (GRCm39) |
D770E |
probably damaging |
Het |
| Mroh1 |
T |
A |
15: 76,316,449 (GRCm39) |
V759E |
probably damaging |
Het |
| Mrps17 |
A |
G |
5: 129,795,209 (GRCm39) |
|
probably benign |
Het |
| Mtpap |
A |
G |
18: 4,396,195 (GRCm39) |
S496G |
possibly damaging |
Het |
| Nkd1 |
T |
A |
8: 89,311,844 (GRCm39) |
Y39* |
probably null |
Het |
| Nmd3 |
A |
G |
3: 69,650,907 (GRCm39) |
Y359C |
probably damaging |
Het |
| Nr1h3 |
G |
A |
2: 91,022,170 (GRCm39) |
L153F |
possibly damaging |
Het |
| Nuf2 |
T |
A |
1: 169,341,112 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
T |
C |
2: 90,112,926 (GRCm39) |
|
probably null |
Het |
| Or4c113 |
T |
A |
2: 88,885,700 (GRCm39) |
K23N |
probably benign |
Het |
| Or8b12i |
A |
T |
9: 20,082,032 (GRCm39) |
Y278* |
probably null |
Het |
| Pnn |
T |
C |
12: 59,113,903 (GRCm39) |
|
probably null |
Het |
| Ppm1j |
A |
G |
3: 104,690,687 (GRCm39) |
D230G |
probably benign |
Het |
| Prss37 |
T |
C |
6: 40,491,893 (GRCm39) |
E229G |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,266,372 (GRCm39) |
V465A |
possibly damaging |
Het |
| Rubcnl |
G |
T |
14: 75,278,331 (GRCm39) |
V372F |
probably damaging |
Het |
| Sema6a |
G |
T |
18: 47,403,785 (GRCm39) |
D595E |
probably benign |
Het |
| Slc35c1 |
A |
G |
2: 92,289,377 (GRCm39) |
F43S |
probably damaging |
Het |
| Slc39a5 |
C |
T |
10: 128,232,619 (GRCm39) |
|
probably null |
Het |
| Slco4c1 |
A |
G |
1: 96,756,574 (GRCm39) |
F583L |
probably benign |
Het |
| Sox9 |
A |
G |
11: 112,675,702 (GRCm39) |
Y297C |
probably damaging |
Het |
| Taf1b |
A |
G |
12: 24,564,884 (GRCm39) |
D167G |
possibly damaging |
Het |
| Trpm6 |
T |
C |
19: 18,861,321 (GRCm39) |
|
probably null |
Het |
| Uba6 |
A |
C |
5: 86,292,237 (GRCm39) |
V402G |
possibly damaging |
Het |
| Usp43 |
T |
C |
11: 67,767,324 (GRCm39) |
Y682C |
probably damaging |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,403 (GRCm39) |
D291G |
probably damaging |
Het |
| Xpr1 |
A |
T |
1: 155,206,214 (GRCm39) |
F156Y |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,987,277 (GRCm39) |
E99K |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,724,124 (GRCm39) |
H2042Q |
probably benign |
Het |
| Zfp937 |
T |
A |
2: 150,081,222 (GRCm39) |
D417E |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATAGATGTCGTCGTTGCACCTTG -3'
(R):5'- CACTTCGCTGAGAAAGTCACAGTCC -3'
Sequencing Primer
(F):5'- gaacccaagccagtctcc -3'
(R):5'- TTTGCACGAGATCGAAGCC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation