Incidental Mutation 'R4436:Ppp1r15a'
| ID |
329526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r15a
|
| Ensembl Gene |
ENSMUSG00000040435 |
| Gene Name |
protein phosphatase 1, regulatory subunit 15A |
| Synonyms |
Gadd34, Myd116 |
| MMRRC Submission |
041702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R4436 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45172341-45175692 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45174203 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 202
(V202M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024233]
[ENSMUST00000042105]
[ENSMUST00000051810]
[ENSMUST00000085331]
[ENSMUST00000107758]
[ENSMUST00000107759]
[ENSMUST00000107762]
[ENSMUST00000167273]
[ENSMUST00000210813]
[ENSMUST00000211227]
[ENSMUST00000210868]
[ENSMUST00000211212]
|
| 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: V202M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435
AA Change: V202M
| 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: V202M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435
AA Change: V202M
| 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: ENSMUST00000211227
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211212
|
| Meta Mutation Damage Score |
0.2496 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
96% (54/56) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,248,768 (GRCm39) |
I779V |
possibly damaging |
Het |
| Asap1 |
T |
G |
15: 64,221,692 (GRCm39) |
D15A |
probably benign |
Het |
| Ascc2 |
A |
G |
11: 4,606,305 (GRCm39) |
D193G |
probably damaging |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,095,276 (GRCm39) |
I1941V |
probably benign |
Het |
| Ccdc85a |
T |
C |
11: 28,526,457 (GRCm39) |
T384A |
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,194 (GRCm39) |
N91S |
probably benign |
Het |
| Cdk17 |
T |
A |
10: 93,047,758 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
C |
7: 83,636,637 (GRCm39) |
D332G |
probably null |
Het |
| Ces2f |
G |
A |
8: 105,679,788 (GRCm39) |
R427H |
probably benign |
Het |
| Clec4a2 |
G |
A |
6: 123,105,013 (GRCm39) |
|
probably null |
Het |
| Coa8 |
T |
A |
12: 111,717,642 (GRCm39) |
D167E |
probably benign |
Het |
| Coq9 |
T |
C |
8: 95,579,743 (GRCm39) |
F198L |
probably benign |
Het |
| Ddx24 |
C |
A |
12: 103,390,233 (GRCm39) |
A253S |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,240,078 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,187,024 (GRCm39) |
G1274V |
probably damaging |
Het |
| Ggn |
A |
T |
7: 28,870,976 (GRCm39) |
T132S |
probably damaging |
Het |
| Gm11568 |
T |
A |
11: 99,749,421 (GRCm39) |
C209S |
unknown |
Het |
| Gm6931 |
T |
A |
16: 49,245,225 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr20 |
C |
T |
15: 73,567,649 (GRCm39) |
V247I |
probably benign |
Het |
| Grm8 |
A |
T |
6: 27,761,237 (GRCm39) |
V329E |
possibly damaging |
Het |
| Gtf2ird2 |
T |
C |
5: 134,223,808 (GRCm39) |
L114P |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hivep3 |
C |
T |
4: 119,953,120 (GRCm39) |
P479S |
probably benign |
Het |
| Igkv6-20 |
A |
G |
6: 70,313,104 (GRCm39) |
V23A |
probably damaging |
Het |
| Ikbip |
T |
A |
10: 90,937,751 (GRCm39) |
N141K |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,476,124 (GRCm39) |
E815G |
probably damaging |
Het |
| Krt77 |
A |
T |
15: 101,773,904 (GRCm39) |
V250E |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,202,502 (GRCm39) |
C1050S |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,421,135 (GRCm39) |
I40V |
probably benign |
Het |
| Or2h2b-ps1 |
A |
G |
17: 37,480,727 (GRCm39) |
F271L |
probably benign |
Het |
| Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
| Pi4ka |
T |
C |
16: 17,100,246 (GRCm39) |
M1885V |
probably damaging |
Het |
| Plek |
A |
G |
11: 16,942,972 (GRCm39) |
Y107H |
probably damaging |
Het |
| Ppp1r3e |
C |
A |
14: 55,114,007 (GRCm39) |
A222S |
probably benign |
Het |
| Rac2 |
G |
T |
15: 78,454,943 (GRCm39) |
Y32* |
probably null |
Het |
| Sdf4 |
T |
G |
4: 156,093,404 (GRCm39) |
|
probably null |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Spic |
T |
A |
10: 88,512,817 (GRCm39) |
R111S |
probably benign |
Het |
| Ssh3 |
A |
G |
19: 4,315,394 (GRCm39) |
F315L |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,595,253 (GRCm39) |
K11972R |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,439,745 (GRCm39) |
S30F |
probably benign |
Het |
| Vmn1r17 |
G |
C |
6: 57,337,719 (GRCm39) |
I166M |
possibly damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,478,645 (GRCm39) |
Y34C |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,906,869 (GRCm39) |
T945M |
probably damaging |
Het |
| Zfp316 |
C |
A |
5: 143,239,803 (GRCm39) |
A739S |
probably damaging |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
probably benign |
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 |
|
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 |
|
|
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'- AGCATTCCGACAAGGGTGAC -3'
(R):5'- GCCAGGACAAGATGACCTTAG -3'
Sequencing Primer
(F):5'- GACCCTGCCCTGCCCTG -3'
(R):5'- ATGGAACGCACAGCTGGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation