Incidental Mutation 'R9030:Mapk10'
| ID |
686986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mapk10
|
| Ensembl Gene |
ENSMUSG00000046709 |
| Gene Name |
mitogen-activated protein kinase 10 |
| Synonyms |
p493F12, C230008H04Rik, JNK3, Serk2 |
| MMRRC Submission |
068859-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9030 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
103056413-103359200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103144499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 136
(K136R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108469
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086854]
[ENSMUST00000112846]
[ENSMUST00000112847]
[ENSMUST00000112848]
[ENSMUST00000128869]
[ENSMUST00000133069]
[ENSMUST00000141573]
[ENSMUST00000170792]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086854
AA Change: K106R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084065
Gene: ENSMUSG00000046709
AA Change: K106R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
5.76e-88 |
SMART |
|
low complexity region
|
423 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112846
AA Change: K106R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108467
Gene: ENSMUSG00000046709
AA Change: K106R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112847
AA Change: K106R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000108468
Gene: ENSMUSG00000046709
AA Change: K106R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
low complexity region
|
423 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112848
AA Change: K136R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108469
Gene: ENSMUSG00000046709
AA Change: K136R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
94 |
389 |
4.37e-88 |
SMART |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000143448
Gene: ENSMUSG00000046709
AA Change: K32R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
4 |
178 |
7.4e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133069
AA Change: K106R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143609
Gene: ENSMUSG00000046709
AA Change: K106R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
252 |
1.4e-9 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141573
AA Change: K106R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142798
Gene: ENSMUSG00000046709
AA Change: K106R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
64 |
125 |
1.3e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170792
AA Change: K106R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127193
Gene: ENSMUSG00000046709
AA Change: K106R
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
64 |
359 |
4.37e-88 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (57/57) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals and are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study provided evidence for translational readthrough in this gene and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. They are resistant to kainic acid induced seizures and show increased resistance to MPTP induced Parkinson's disease. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr5 |
A |
C |
2: 158,474,321 (GRCm39) |
I375L |
probably benign |
Het |
| Adgrl2 |
G |
T |
3: 148,544,761 (GRCm39) |
T778K |
possibly damaging |
Het |
| Ccn3 |
A |
T |
15: 54,615,687 (GRCm39) |
Y284F |
probably damaging |
Het |
| Cdc73 |
A |
T |
1: 143,485,234 (GRCm39) |
L478H |
probably damaging |
Het |
| Cdh20 |
C |
A |
1: 110,027,843 (GRCm39) |
H529Q |
probably benign |
Het |
| Cep55 |
T |
C |
19: 38,059,592 (GRCm39) |
|
probably null |
Het |
| Chd9 |
G |
A |
8: 91,683,198 (GRCm39) |
R546Q |
unknown |
Het |
| Ddit4 |
A |
T |
10: 59,786,515 (GRCm39) |
L178Q |
probably damaging |
Het |
| Dgke |
A |
T |
11: 88,941,237 (GRCm39) |
N315K |
possibly damaging |
Het |
| Dsg1a |
A |
G |
18: 20,473,549 (GRCm39) |
D874G |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,352,673 (GRCm39) |
Y184N |
probably damaging |
Het |
| Dynlt1c |
A |
G |
17: 6,870,916 (GRCm39) |
I20V |
probably benign |
Het |
| Ephx4 |
A |
G |
5: 107,577,549 (GRCm39) |
H291R |
possibly damaging |
Het |
| Epx |
A |
T |
11: 87,763,470 (GRCm39) |
M250K |
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,022,761 (GRCm39) |
Y164C |
probably benign |
Het |
| Fer1l6 |
A |
T |
15: 58,502,594 (GRCm39) |
Y1365F |
probably damaging |
Het |
| Fndc8 |
A |
G |
11: 82,789,522 (GRCm39) |
T227A |
probably benign |
Het |
| Gbp7 |
T |
C |
3: 142,243,798 (GRCm39) |
I115T |
probably damaging |
Het |
| Gm5145 |
A |
G |
17: 20,791,270 (GRCm39) |
E216G |
probably benign |
Het |
| Gm94 |
A |
T |
18: 43,914,326 (GRCm39) |
F77L |
possibly damaging |
Het |
| Grik3 |
C |
A |
4: 125,526,185 (GRCm39) |
H139Q |
probably benign |
Het |
| Gucy2e |
T |
C |
11: 69,115,827 (GRCm39) |
T852A |
probably damaging |
Het |
| Hif1a |
T |
C |
12: 73,983,010 (GRCm39) |
S274P |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,692,870 (GRCm39) |
I268L |
probably benign |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lin52 |
T |
A |
12: 84,592,681 (GRCm39) |
S87T |
|
Het |
| Lrrc74b |
A |
G |
16: 17,367,640 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
A |
T |
7: 5,325,457 (GRCm39) |
N738K |
probably null |
Het |
| Nlrp5 |
A |
T |
7: 23,129,573 (GRCm39) |
Q880L |
possibly damaging |
Het |
| Or2y11 |
T |
A |
11: 49,442,808 (GRCm39) |
V78E |
probably damaging |
Het |
| Or5d39 |
A |
T |
2: 87,979,718 (GRCm39) |
I215N |
possibly damaging |
Het |
| Or6c215 |
G |
T |
10: 129,637,926 (GRCm39) |
P156Q |
probably damaging |
Het |
| P4htm |
G |
A |
9: 108,474,627 (GRCm39) |
P46L |
probably benign |
Het |
| Pcsk4 |
A |
T |
10: 80,164,858 (GRCm39) |
H69Q |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,385 (GRCm39) |
S1917P |
probably benign |
Het |
| Pnpla5 |
A |
G |
15: 83,998,087 (GRCm39) |
V385A |
possibly damaging |
Het |
| Prorp |
T |
C |
12: 55,426,192 (GRCm39) |
F514S |
probably damaging |
Het |
| Rims2 |
C |
T |
15: 39,339,873 (GRCm39) |
R856C |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,691,622 (GRCm39) |
Y218H |
probably benign |
Het |
| Sat2 |
T |
A |
11: 69,513,069 (GRCm39) |
|
probably benign |
Het |
| Sf1 |
C |
T |
19: 6,426,336 (GRCm39) |
R186C |
|
Het |
| Snrnp200 |
A |
G |
2: 127,053,466 (GRCm39) |
|
probably benign |
Het |
| Sqor |
A |
T |
2: 122,629,514 (GRCm39) |
D124V |
probably benign |
Het |
| Ssh2 |
A |
G |
11: 77,312,062 (GRCm39) |
H191R |
possibly damaging |
Het |
| Stac |
C |
A |
9: 111,519,320 (GRCm39) |
|
probably benign |
Het |
| Svs4 |
T |
C |
2: 164,119,058 (GRCm39) |
M93V |
unknown |
Het |
| Tbc1d32 |
A |
T |
10: 56,037,241 (GRCm39) |
S668T |
possibly damaging |
Het |
| Tex10 |
A |
G |
4: 48,452,056 (GRCm39) |
F690S |
probably damaging |
Het |
| Tex30 |
A |
G |
1: 44,130,356 (GRCm39) |
M88T |
|
Het |
| Tgfbrap1 |
T |
C |
1: 43,095,837 (GRCm39) |
T534A |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,711,818 (GRCm39) |
E2647G |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Tubb3 |
A |
T |
8: 124,145,696 (GRCm39) |
R62W |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,690,312 (GRCm39) |
S507P |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,603,864 (GRCm39) |
K30E |
possibly damaging |
Het |
| Vmn2r14 |
G |
A |
5: 109,368,054 (GRCm39) |
H313Y |
probably damaging |
Het |
| Wdr37 |
C |
T |
13: 8,885,424 (GRCm39) |
V340M |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,039,565 (GRCm39) |
F234L |
possibly damaging |
Het |
|
| Other mutations in Mapk10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01480:Mapk10
|
APN |
5 |
103,074,018 (GRCm39) |
splice site |
probably benign |
|
|
IGL01791:Mapk10
|
APN |
5 |
103,144,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01885:Mapk10
|
APN |
5 |
103,144,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02192:Mapk10
|
APN |
5 |
103,137,513 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02260:Mapk10
|
APN |
5 |
103,186,534 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02409:Mapk10
|
APN |
5 |
103,076,096 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03148:Mapk10
|
APN |
5 |
103,073,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0904:Mapk10
|
UTSW |
5 |
103,135,146 (GRCm39) |
splice site |
probably benign |
|
|
R1067:Mapk10
|
UTSW |
5 |
103,139,723 (GRCm39) |
splice site |
probably benign |
|
|
R1592:Mapk10
|
UTSW |
5 |
103,186,487 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1812:Mapk10
|
UTSW |
5 |
103,061,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2364:Mapk10
|
UTSW |
5 |
103,186,507 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2866:Mapk10
|
UTSW |
5 |
103,186,548 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2867:Mapk10
|
UTSW |
5 |
103,186,548 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2867:Mapk10
|
UTSW |
5 |
103,186,548 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4622:Mapk10
|
UTSW |
5 |
103,137,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Mapk10
|
UTSW |
5 |
103,138,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Mapk10
|
UTSW |
5 |
103,138,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Mapk10
|
UTSW |
5 |
103,111,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5901:Mapk10
|
UTSW |
5 |
103,061,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5986:Mapk10
|
UTSW |
5 |
103,186,446 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6000:Mapk10
|
UTSW |
5 |
103,114,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6000:Mapk10
|
UTSW |
5 |
103,114,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7375:Mapk10
|
UTSW |
5 |
103,124,256 (GRCm39) |
missense |
probably null |
0.26 |
|
R7460:Mapk10
|
UTSW |
5 |
103,186,443 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7753:Mapk10
|
UTSW |
5 |
103,186,419 (GRCm39) |
nonsense |
probably null |
|
|
R7879:Mapk10
|
UTSW |
5 |
103,111,362 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7935:Mapk10
|
UTSW |
5 |
103,139,792 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8059:Mapk10
|
UTSW |
5 |
103,114,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8846:Mapk10
|
UTSW |
5 |
103,144,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Mapk10
|
UTSW |
5 |
103,074,025 (GRCm39) |
splice site |
probably benign |
|
|
R9106:Mapk10
|
UTSW |
5 |
103,186,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9115:Mapk10
|
UTSW |
5 |
103,186,532 (GRCm39) |
missense |
|
|
|
R9398:Mapk10
|
UTSW |
5 |
103,061,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9620:Mapk10
|
UTSW |
5 |
103,114,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Mapk10
|
UTSW |
5 |
103,135,101 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Mapk10
|
UTSW |
5 |
103,139,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCTCCTCAATGCCATATGG -3'
(R):5'- TATCCTAGAAGCATCCAGGTGTG -3'
Sequencing Primer
(F):5'- TGGGTAATTTTTAAAGCAGGAAGC -3'
(R):5'- CATCCAGGTGTGATTCATAGAGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation