Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Mapk9'

102156

Institutional Source

Beutler Lab

Gene Symbol

Mapk9

Ensembl Gene

ENSMUSG00000020366

Gene Name

mitogen-activated protein kinase 9

Synonyms

JNK2, JNK/SAPK alpha, Prkm9

MMRRC Submission

039258-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49846751-49886421 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49878269 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 243 (T243A)

Ref Sequence

ENSEMBL: ENSMUSP00000136977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020634] [ENSMUST00000043321] [ENSMUST00000102778] [ENSMUST00000109178] [ENSMUST00000109179] [ENSMUST00000164643] [ENSMUST00000178543]

AlphaFold

Q9WTU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000020634
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020634
Gene: ENSMUSG00000020366
AA Change: T243A

Domain	Start	End	E-Value	Type
S_TKc	26	321	4.01e-87	SMART
low complexity region	387	399	N/A	INTRINSIC
low complexity region	403	416	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000043321
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042744
Gene: ENSMUSG00000020366
AA Change: T243A

Domain	Start	End	E-Value	Type
S_TKc	26	321	7.6e-88	SMART
low complexity region	387	399	N/A	INTRINSIC
low complexity region	403	416	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102778
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099839
Gene: ENSMUSG00000020366
AA Change: T243A

Domain	Start	End	E-Value	Type
S_TKc	26	321	7.6e-88	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109178
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104807
Gene: ENSMUSG00000020366
AA Change: T243A

Domain	Start	End	E-Value	Type
S_TKc	26	321	4.01e-87	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109179
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104808
Gene: ENSMUSG00000020366
AA Change: T243A

Domain	Start	End	E-Value	Type
S_TKc	26	321	7.6e-88	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148274

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151695

Predicted Effect

probably damaging
Transcript: ENSMUST00000164643
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132864
Gene: ENSMUSG00000020366
AA Change: T243A

Domain	Start	End	E-Value	Type
S_TKc	26	321	4.01e-87	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178543
AA Change: T243A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136977
Gene: ENSMUSG00000020366
AA Change: T243A

Domain	Start	End	E-Value	Type
S_TKc	26	321	7.6e-88	SMART
low complexity region	387	399	N/A	INTRINSIC
low complexity region	403	416	N/A	INTRINSIC

Meta Mutation Damage Score

0.3869

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase targets specific transcription factors, and thus mediates immediate-early gene expression in response to various cell stimuli. It is most closely related to MAPK8, both of which are involved in UV radiation induced apoptosis, thought to be related to the cytochrome c-mediated cell death pathway. This gene and MAPK8 are also known as c-Jun N-terminal kinases. This kinase blocks the ubiquitination of tumor suppressor p53, and thus it increases the stability of p53 in nonstressed cells. Studies of this gene's mouse counterpart suggest a key role in T-cell differentiation. Several alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Sep 2008]
PHENOTYPE: Homozygotes for a null allele show resistance to TNF-induced liver injury, impaired TH1 cell differentiation, and enhanced epidermal differentiation and proliferation. Homozygotes for a reporter allele show impaired T-cell activation and apoptosis, resistance to I-R cardiac injury, and reduced LTP. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,621,652 (GRCm38)	R64Q	probably benign	Het
4932438A13Rik	T	C	3: 36,996,312 (GRCm38)		probably benign	Het
9530068E07Rik	G	A	11: 52,403,078 (GRCm38)	V49I	probably benign	Het
A2m	T	C	6: 121,661,534 (GRCm38)	S902P	probably benign	Het
Aatf	A	T	11: 84,470,549 (GRCm38)		probably benign	Het
Adamtsl1	A	G	4: 86,388,509 (GRCm38)	T1395A	probably benign	Het
Alpk2	T	C	18: 65,294,341 (GRCm38)		probably null	Het
Ank3	G	T	10: 69,867,460 (GRCm38)	A308S	probably damaging	Het
Arap1	A	G	7: 101,404,269 (GRCm38)		probably benign	Het
C4b	T	C	17: 34,736,309 (GRCm38)	D769G	possibly damaging	Het
Cep350	A	G	1: 155,875,376 (GRCm38)	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,875,994 (GRCm38)	I2704F	unknown	Het
Crip2	G	A	12: 113,144,959 (GRCm38)		probably benign	Het
Cyp4f14	T	C	17: 32,916,786 (GRCm38)	I34V	probably benign	Het
Dcstamp	A	G	15: 39,754,629 (GRCm38)		probably null	Het
Ddx5	T	C	11: 106,783,979 (GRCm38)		probably null	Het
Dnah2	A	T	11: 69,515,700 (GRCm38)	L572Q	probably damaging	Het
Espl1	G	A	15: 102,304,039 (GRCm38)	A527T	probably benign	Het
Fam83d	A	G	2: 158,785,174 (GRCm38)	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,530,586 (GRCm38)	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,533,405 (GRCm38)		probably benign	Het
Galnt17	G	T	5: 131,111,742 (GRCm38)	T179K	probably damaging	Het
Gm6768	A	C	12: 119,261,471 (GRCm38)		noncoding transcript	Het
Gm6899	C	T	11: 26,593,685 (GRCm38)		probably benign	Het
Helz2	T	A	2: 181,231,128 (GRCm38)	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,814,723 (GRCm38)		probably benign	Het
Hsh2d	G	A	8: 72,200,460 (GRCm38)	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326 (GRCm38)	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,694,583 (GRCm38)	I195T	probably benign	Het
Isyna1	C	A	8: 70,595,201 (GRCm38)	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,078,008 (GRCm38)	F75S	probably benign	Het
Ly96	A	G	1: 16,700,894 (GRCm38)	D101G	possibly damaging	Het
Mcc	A	G	18: 44,759,403 (GRCm38)	V48A	probably benign	Het
Mcpt2	C	T	14: 56,043,945 (GRCm38)		probably benign	Het
Med24	T	C	11: 98,717,757 (GRCm38)		probably benign	Het
Mtbp	G	A	15: 55,564,671 (GRCm38)	G162S	probably null	Het
Mtfr2	G	A	10: 20,352,852 (GRCm38)	C48Y	probably benign	Het
Naip2	AGGG	AGG	13: 100,162,037 (GRCm38)		probably null	Het
Naip2	C	T	13: 100,161,981 (GRCm38)	A516T	possibly damaging	Het
Nup107	A	C	10: 117,777,146 (GRCm38)	Y292*	probably null	Het
Nwd2	C	T	5: 63,650,024 (GRCm38)		probably benign	Het
Nxpe4	A	C	9: 48,393,392 (GRCm38)	N260H	probably benign	Het
Ofcc1	C	T	13: 40,208,829 (GRCm38)	G206R	probably benign	Het
Olfr1084	A	T	2: 86,639,463 (GRCm38)	L82M	probably damaging	Het
Olfr5	T	C	7: 6,480,542 (GRCm38)	I205V	probably benign	Het
Olfr901	T	C	9: 38,431,101 (GRCm38)	V273A	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,524,157 (GRCm38)	S142P	probably damaging	Het
P2rx7	T	C	5: 122,670,451 (GRCm38)	Y299H	probably damaging	Het
Per3	T	A	4: 151,026,138 (GRCm38)	E401V	probably damaging	Het
Rbm34	C	A	8: 126,965,447 (GRCm38)	E182*	probably null	Het
Sdk2	C	T	11: 113,838,646 (GRCm38)		silent	Het
Senp2	T	C	16: 22,011,504 (GRCm38)	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,164,231 (GRCm38)		probably null	Het
Spred1	A	T	2: 117,177,697 (GRCm38)	R361S	possibly damaging	Het
Spry2	A	G	14: 105,892,907 (GRCm38)	C282R	probably damaging	Het
Srp54b	T	C	12: 55,255,528 (GRCm38)		probably benign	Het
Taar8c	G	C	10: 24,101,565 (GRCm38)	Y116*	probably null	Het
Tchh	C	G	3: 93,448,046 (GRCm38)	R1598G	unknown	Het
Tex15	A	G	8: 33,571,633 (GRCm38)	M364V	probably benign	Het
Ttbk1	T	C	17: 46,467,131 (GRCm38)	R662G	probably damaging	Het
Ttc5	G	A	14: 50,767,226 (GRCm38)	Q374*	probably null	Het
Usp46	C	T	5: 74,002,122 (GRCm38)	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,835,626 (GRCm38)	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,893,892 (GRCm38)	R122*	probably null	Het
Vmn2r6	T	A	3: 64,565,067 (GRCm38)	M78L	probably benign	Het
Zfp407	A	T	18: 84,209,448 (GRCm38)	I2012N	probably benign	Het
Zfp980	G	A	4: 145,702,083 (GRCm38)	G461S	probably benign	Het
Zfyve26	G	A	12: 79,263,949 (GRCm38)	L161F	probably damaging	Het

Other mutations in Mapk9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03085:Mapk9	APN	11	49,867,038 (GRCm38)	missense	probably damaging	1.00
IGL03399:Mapk9	APN	11	49,883,299 (GRCm38)	utr 3 prime	probably benign
Infirm	UTSW	11	49,863,556 (GRCm38)	missense	probably damaging	1.00
R0003:Mapk9	UTSW	11	49,867,039 (GRCm38)	missense	possibly damaging	0.52
R0610:Mapk9	UTSW	11	49,863,573 (GRCm38)	missense	probably benign	0.00
R0676:Mapk9	UTSW	11	49,883,156 (GRCm38)	makesense	probably null
R0681:Mapk9	UTSW	11	49,869,245 (GRCm38)	missense	probably damaging	1.00
R0736:Mapk9	UTSW	11	49,883,254 (GRCm38)	missense	possibly damaging	0.58
R1964:Mapk9	UTSW	11	49,854,333 (GRCm38)	missense	probably null	1.00
R2424:Mapk9	UTSW	11	49,863,672 (GRCm38)	missense	probably damaging	1.00
R4876:Mapk9	UTSW	11	49,854,325 (GRCm38)	missense	probably damaging	0.97
R6191:Mapk9	UTSW	11	49,863,556 (GRCm38)	missense	probably damaging	1.00
R7059:Mapk9	UTSW	11	49,867,047 (GRCm38)	splice site	probably null
R7484:Mapk9	UTSW	11	49,872,836 (GRCm38)	missense	probably damaging	0.97
R7951:Mapk9	UTSW	11	49,863,595 (GRCm38)	missense	probably damaging	1.00
R8834:Mapk9	UTSW	11	49,883,183 (GRCm38)	missense	probably damaging	1.00
R9104:Mapk9	UTSW	11	49,869,173 (GRCm38)	missense	probably damaging	1.00
R9158:Mapk9	UTSW	11	49,854,268 (GRCm38)	missense	probably benign	0.02
R9176:Mapk9	UTSW	11	49,872,738 (GRCm38)	nonsense	probably null
R9573:Mapk9	UTSW	11	49,878,412 (GRCm38)	missense	probably damaging	0.99
RF010:Mapk9	UTSW	11	49,854,256 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGAGATAGGCCAGAACCCAAGC -3'
(R):5'- CTGCACCTCTTGACATACACGGAC -3'

Sequencing Primer
(F):5'- AGACCTGTAAATCTCAGGTAGC -3'
(R):5'- ACCTCTTGACATACACGGACTTTAG -3'

Posted On

2014-01-15