Incidental Mutation 'R1220:Ppp1r15a'
| ID |
99998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppp1r15a
|
| Ensembl Gene |
ENSMUSG00000040435 |
| Gene Name |
protein phosphatase 1, regulatory subunit 15A |
| Synonyms |
Gadd34, Myd116 |
| MMRRC Submission |
039289-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R1220 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45172341-45175692 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45173293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 505
(Y505C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024233]
[ENSMUST00000042105]
[ENSMUST00000051810]
[ENSMUST00000085331]
[ENSMUST00000107758]
[ENSMUST00000107759]
[ENSMUST00000107762]
[ENSMUST00000167273]
[ENSMUST00000210868]
[ENSMUST00000210813]
[ENSMUST00000211212]
[ENSMUST00000211227]
|
| 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: Y505C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049488
Gene: ENSMUSG00000040435
AA Change: Y505C
| 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: Y505C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128497
Gene: ENSMUSG00000040435
AA Change: Y505C
| 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: ENSMUST00000210868
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210813
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211227
|
| Meta Mutation Damage Score |
0.2500 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
| Validation Efficiency |
100% (35/35) |
| 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 |
|---|
| Acsm1 |
C |
A |
7: 119,257,537 (GRCm39) |
S407R |
probably benign |
Het |
| Add2 |
A |
T |
6: 86,063,982 (GRCm39) |
M94L |
possibly damaging |
Het |
| Anks6 |
A |
T |
4: 47,025,767 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,710,899 (GRCm39) |
S678P |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,491 (GRCm39) |
Y76C |
probably damaging |
Het |
| Col1a1 |
G |
T |
11: 94,841,957 (GRCm39) |
A1335S |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,182,574 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
C |
A |
18: 47,220,107 (GRCm39) |
Q195K |
probably damaging |
Het |
| Cps1 |
G |
A |
1: 67,243,862 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
A |
T |
17: 25,201,211 (GRCm39) |
V757D |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,017,699 (GRCm39) |
T13A |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
| Eif4enif1 |
A |
G |
11: 3,189,493 (GRCm39) |
|
probably benign |
Het |
| Exoc3l2 |
T |
A |
7: 19,225,709 (GRCm39) |
|
probably benign |
Het |
| Fam118b |
T |
C |
9: 35,134,969 (GRCm39) |
S213G |
possibly damaging |
Het |
| Katnal1 |
G |
A |
5: 148,831,061 (GRCm39) |
A171V |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,832,945 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 102,906,990 (GRCm39) |
R1577W |
probably benign |
Het |
| Or1e26 |
A |
C |
11: 73,480,203 (GRCm39) |
Y120* |
probably null |
Het |
| Or5p70 |
T |
A |
7: 107,994,539 (GRCm39) |
S71T |
probably benign |
Het |
| Pmel |
A |
G |
10: 128,549,929 (GRCm39) |
D30G |
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,214,229 (GRCm39) |
R830C |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,566,479 (GRCm39) |
D106E |
probably damaging |
Het |
| Rad18 |
C |
A |
6: 112,626,625 (GRCm39) |
E141* |
probably null |
Het |
| Ros1 |
C |
T |
10: 51,974,966 (GRCm39) |
V1540M |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,810,941 (GRCm39) |
R201H |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,110,836 (GRCm39) |
S302P |
probably damaging |
Het |
| Slamf9 |
C |
A |
1: 172,304,898 (GRCm39) |
Q171K |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,261,677 (GRCm39) |
T180S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,553,998 (GRCm39) |
S30902G |
possibly damaging |
Het |
| Xirp1 |
A |
G |
9: 119,846,982 (GRCm39) |
F634L |
possibly damaging |
Het |
| Yrdc |
T |
A |
4: 124,748,329 (GRCm39) |
S278T |
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 |
|
R0350:Ppp1r15a
|
UTSW |
7 |
45,172,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GTTCATATGCAAGAAGTCGCAACCC -3'
(R):5'- CACATACAAGTCCCTTCCTGAAGGC -3'
Sequencing Primer
(F):5'- ttaaagaaaaaaaaaaGGCAGTGTGG -3'
(R):5'- TATCGCCCAGGAGAGGACAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation