Mutagenetix > Incidental Mutation

Incidental Mutation 'R6997:Map2k7'

544284

Institutional Source

Beutler Lab

Gene Symbol

Map2k7

Ensembl Gene

ENSMUSG00000002948

Gene Name

mitogen-activated protein kinase kinase 7

Synonyms

Prkmk7, sek2, MAP kinase kinase 7, 5930412N11Rik, MKK7, Jnkk2

MMRRC Submission

045103-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4288740-4297897 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4294035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 194 (Y194H)

Ref Sequence

ENSEMBL: ENSMUSP00000117418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003027] [ENSMUST00000062686] [ENSMUST00000110993] [ENSMUST00000110994] [ENSMUST00000110995] [ENSMUST00000110996] [ENSMUST00000110998] [ENSMUST00000110999] [ENSMUST00000129866] [ENSMUST00000145165]

AlphaFold

Q8CE90

Predicted Effect

probably benign
Transcript: ENSMUST00000003027
AA Change: Y194H

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003027
Gene: ENSMUSG00000002948
AA Change: Y194H

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART
low complexity region	435	455	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062686
AA Change: Y194H

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054512
Gene: ENSMUSG00000002948
AA Change: Y194H

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110993

SMART Domains

Protein: ENSMUSP00000106621
Gene: ENSMUSG00000089736

Domain	Start	End	E-Value	Type
low complexity region	5	12	N/A	INTRINSIC
Pfam:Zona_pellucida	16	161	6.6e-15	PFAM
low complexity region	210	224	N/A	INTRINSIC
low complexity region	227	263	N/A	INTRINSIC
low complexity region	269	276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110994
AA Change: Y105H

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106622
Gene: ENSMUSG00000002948
AA Change: Y105H

Domain	Start	End	E-Value	Type
S_TKc	47	307	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110995
AA Change: Y105H

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106623
Gene: ENSMUSG00000002948
AA Change: Y105H

Domain	Start	End	E-Value	Type
S_TKc	47	307	8.43e-72	SMART
low complexity region	346	366	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110996
AA Change: Y150H

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000106624
Gene: ENSMUSG00000002948
AA Change: Y150H

Domain	Start	End	E-Value	Type
low complexity region	25	45	N/A	INTRINSIC
S_TKc	92	352	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110998
AA Change: Y178H

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000106626
Gene: ENSMUSG00000002948
AA Change: Y178H

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	36	47	N/A	INTRINSIC
low complexity region	53	73	N/A	INTRINSIC
S_TKc	120	380	8.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110999
AA Change: Y178H

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106627
Gene: ENSMUSG00000002948
AA Change: Y178H

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	36	47	N/A	INTRINSIC
low complexity region	53	73	N/A	INTRINSIC
S_TKc	120	380	8.43e-72	SMART
low complexity region	419	439	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129866

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145165
AA Change: Y194H

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117418
Gene: ENSMUSG00000109061
AA Change: Y194H

Domain	Start	End	E-Value	Type
coiled coil region	1	30	N/A	INTRINSIC
low complexity region	69	89	N/A	INTRINSIC
S_TKc	136	396	8.43e-72	SMART

Meta Mutation Damage Score

0.2094

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (58/60)

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 dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene die during embryogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	C	8: 25,171,539 (GRCm39)	Y764C	probably benign	Het
Atxn1	C	T	13: 45,721,095 (GRCm39)	V267M	probably benign	Het
Cadps	T	A	14: 12,505,793 (GRCm38)	H759L	possibly damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Caprin2	A	G	6: 148,779,474 (GRCm39)	L111P	probably damaging	Het
Ccl8	A	T	11: 82,006,865 (GRCm39)	D26V	possibly damaging	Het
Cdh19	T	C	1: 110,882,596 (GRCm39)		probably benign	Het
Cnga3	C	A	1: 37,283,965 (GRCm39)	H89Q	probably benign	Het
Cnga4	A	T	7: 105,056,190 (GRCm39)	Q264L	probably damaging	Het
Coil	A	G	11: 88,872,673 (GRCm39)	T345A	probably benign	Het
Cyp11b2	A	G	15: 74,723,281 (GRCm39)	L461P	probably damaging	Het
Dock2	T	C	11: 34,414,922 (GRCm39)	E151G	probably damaging	Het
Dsc1	C	T	18: 20,219,701 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,168,743 (GRCm39)	C357S	probably null	Het
Ebf3	A	C	7: 136,826,994 (GRCm39)	I306R	probably damaging	Het
Eprs1	A	G	1: 185,128,360 (GRCm39)	H580R	possibly damaging	Het
Ermap	A	T	4: 119,035,810 (GRCm39)	F393I	probably damaging	Het
Flii	T	C	11: 60,613,151 (GRCm39)	T217A	probably benign	Het
Fras1	C	T	5: 96,762,732 (GRCm39)	Q745*	probably null	Het
Gja8	A	G	3: 96,826,657 (GRCm39)	V335A	probably benign	Het
Gm21560	A	T	14: 6,218,333 (GRCm38)	N48K	probably damaging	Het
Gpr158	C	T	2: 21,653,802 (GRCm39)	T457I	possibly damaging	Het
Kcnv1	A	T	15: 44,977,997 (GRCm39)	S14T	unknown	Het
Lamb2	T	C	9: 108,358,496 (GRCm39)	Y178H	probably damaging	Het
Lamc2	G	A	1: 153,012,508 (GRCm39)	T722M	probably benign	Het
Map1b	T	C	13: 99,567,142 (GRCm39)	T1860A	unknown	Het
Map4	T	A	9: 109,881,982 (GRCm39)	M282K	probably benign	Het
Mmp10	A	G	9: 7,503,531 (GRCm39)	I134V	probably benign	Het
Mrtfa	G	T	15: 80,902,649 (GRCm39)	S220*	probably null	Het
Msh5	A	T	17: 35,248,978 (GRCm39)	L685Q	probably damaging	Het
Myh1	T	A	11: 67,111,463 (GRCm39)	I1634N	possibly damaging	Het
Myh13	C	T	11: 67,217,980 (GRCm39)	R18*	probably null	Het
Myo3b	A	T	2: 69,957,329 (GRCm39)	I185L	probably damaging	Het
Ninl	G	T	2: 150,808,145 (GRCm39)	H294Q	probably benign	Het
Or4a79	G	A	2: 89,552,269 (GRCm39)	A62V	possibly damaging	Het
Or51b17	A	T	7: 103,542,238 (GRCm39)	S235T	probably benign	Het
Or8b44	T	C	9: 38,410,607 (GRCm39)	I214T	possibly damaging	Het
Orm3	T	A	4: 63,275,180 (GRCm39)	L97Q	probably damaging	Het
Osbpl1a	T	C	18: 12,889,281 (GRCm39)	N432S	probably benign	Het
Pikfyve	T	A	1: 65,285,822 (GRCm39)	D1020E	probably damaging	Het
Pxk	T	A	14: 8,122,371 (GRCm38)	D60E	probably benign	Het
Rack1	T	A	11: 48,694,752 (GRCm39)	V198E	probably damaging	Het
Ripk1	C	T	13: 34,201,100 (GRCm39)	A271V	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr2	G	T	13: 11,669,266 (GRCm39)	H3513N	possibly damaging	Het
Scn7a	A	T	2: 66,534,147 (GRCm39)	D509E	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sfxn5	A	G	6: 85,233,414 (GRCm39)	V181A	probably benign	Het
Slc5a4b	C	T	10: 75,925,812 (GRCm39)	A198T	probably damaging	Het
Sp2	C	T	11: 96,848,552 (GRCm39)	R357H	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tnfrsf11b	G	A	15: 54,115,770 (GRCm39)	L276F	probably damaging	Het
Usp37	A	G	1: 74,493,118 (GRCm39)	V723A	probably benign	Het
Usp45	G	T	4: 21,781,844 (GRCm39)	R36I	probably damaging	Het
Vcan	T	C	13: 89,838,737 (GRCm39)	D2269G	probably damaging	Het
Vmn2r18	T	A	5: 151,485,338 (GRCm39)	M719L	possibly damaging	Het
Vmn2r52	C	T	7: 9,902,998 (GRCm39)	G477R	probably benign	Het
Vmn2r60	C	A	7: 41,791,716 (GRCm39)	N546K	probably benign	Het
Wnt8b	G	A	19: 44,500,280 (GRCm39)	C289Y	probably damaging	Het
Zdbf2	T	G	1: 63,329,925 (GRCm39)	M10R	probably benign	Het
Zfp945	T	A	17: 23,071,543 (GRCm39)	K140*	probably null	Het

Other mutations in Map2k7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01997:Map2k7	APN	8	4,293,442 (GRCm39)	missense	probably benign	0.07
IGL02024:Map2k7	APN	8	4,297,663 (GRCm39)	missense	possibly damaging	0.61
IGL02086:Map2k7	APN	8	4,288,950 (GRCm39)	missense	probably damaging	1.00
IGL02150:Map2k7	APN	8	4,293,818 (GRCm39)	missense	possibly damaging	0.49
R1583:Map2k7	UTSW	8	4,293,621 (GRCm39)	critical splice donor site	probably null
R1916:Map2k7	UTSW	8	4,295,795 (GRCm39)	missense	probably benign	0.19
R2996:Map2k7	UTSW	8	4,293,775 (GRCm39)	missense	probably benign	0.04
R4014:Map2k7	UTSW	8	4,297,663 (GRCm39)	missense	possibly damaging	0.61
R4868:Map2k7	UTSW	8	4,297,751 (GRCm39)	intron	probably benign
R5357:Map2k7	UTSW	8	4,294,461 (GRCm39)	missense	probably damaging	1.00
R5768:Map2k7	UTSW	8	4,295,757 (GRCm39)	missense	probably benign	0.01
R7814:Map2k7	UTSW	8	4,293,744 (GRCm39)	missense	probably benign	0.02
R8193:Map2k7	UTSW	8	4,294,059 (GRCm39)	missense	probably benign	0.16
R8855:Map2k7	UTSW	8	4,293,594 (GRCm39)	missense	probably damaging	1.00
R9455:Map2k7	UTSW	8	4,293,957 (GRCm39)	missense	probably damaging	0.99
R9708:Map2k7	UTSW	8	4,295,806 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GCCACATCATTGCTGTTAAGG -3'
(R):5'- ACGTCTGTCTGTAGAAGGAGG -3'

Sequencing Primer
(F):5'- CCACATCATTGCTGTTAAGGTAAGCC -3'
(R):5'- TCTGTAGAAGGAGGGTGGTACC -3'

Posted On

2019-05-13