Mutagenetix > Incidental Mutation

Incidental Mutation 'R0968:Map4k2'

83968

Institutional Source

Beutler Lab

Gene Symbol

Map4k2

Ensembl Gene

ENSMUSG00000024948

Gene Name

mitogen-activated protein kinase kinase kinase kinase 2

Synonyms

BL44, Rab8ip

MMRRC Submission

039097-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R0968 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6391165-6405645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6395487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 327 (S327P)

Ref Sequence

ENSEMBL: ENSMUSP00000120123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025897] [ENSMUST00000056391] [ENSMUST00000078137] [ENSMUST00000079327] [ENSMUST00000113500] [ENSMUST00000113501] [ENSMUST00000113502] [ENSMUST00000130382] [ENSMUST00000124556] [ENSMUST00000113504] [ENSMUST00000142496] [ENSMUST00000152349] [ENSMUST00000166909]

AlphaFold

Q61161

Predicted Effect

probably damaging
Transcript: ENSMUST00000025897
AA Change: S371P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: S371P

Domain	Start	End	E-Value	Type
S_TKc	16	273	2.41e-90	SMART
low complexity region	358	369	N/A	INTRINSIC
low complexity region	425	444	N/A	INTRINSIC
CNH	488	801	1.31e-128	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056391

SMART Domains

Protein: ENSMUSP00000058149
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	611	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000078137

SMART Domains

Protein: ENSMUSP00000077272
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	396	2.6e-241	PFAM
Pfam:Menin	392	556	1.5e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079327

SMART Domains

Protein: ENSMUSP00000078306
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	611	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113500

SMART Domains

Protein: ENSMUSP00000109128
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	611	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113501

SMART Domains

Protein: ENSMUSP00000109129
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	183	2.6e-104	PFAM
Pfam:Menin	184	576	3.2e-213	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113502

SMART Domains

Protein: ENSMUSP00000109130
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	7	515	1.5e-254	PFAM
Pfam:Menin	536	615	4.9e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000130382
AA Change: S327P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120123
Gene: ENSMUSG00000024948
AA Change: S327P

Domain	Start	End	E-Value	Type
S_TKc	16	233	3.4e-14	SMART
low complexity region	314	325	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133696

Predicted Effect

probably benign
Transcript: ENSMUST00000124556

SMART Domains

Protein: ENSMUSP00000121375
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
Pfam:Pkinase	16	56	4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128170

SMART Domains

Protein: ENSMUSP00000121856
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
Pfam:CNH	2	142	3.4e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113504

SMART Domains

Protein: ENSMUSP00000109132
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	611	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142496

SMART Domains

Protein: ENSMUSP00000114243
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
Pfam:Pkinase	16	56	4e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156154

Predicted Effect

probably benign
Transcript: ENSMUST00000170292

SMART Domains

Protein: ENSMUSP00000128607
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	4	106	1.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152349

SMART Domains

Protein: ENSMUSP00000115741
Gene: ENSMUSG00000024948

Domain	Start	End	E-Value	Type
Pfam:Pkinase	16	57	3.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166909

SMART Domains

Protein: ENSMUSP00000133085
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	62	8.9e-29	PFAM

Meta Mutation Damage Score

0.0757

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.0%
20x: 96.7%

Validation Efficiency

94% (34/36)

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 serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased susceptibility to endotoxin shock. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,772,967 (GRCm39)	V719M	probably damaging	Het
Abca13	A	G	11: 9,248,016 (GRCm39)	S2588G	probably benign	Het
Acaca	C	T	11: 84,129,859 (GRCm39)	Q405*	probably null	Het
Brms1l	G	A	12: 55,912,798 (GRCm39)	D264N	possibly damaging	Het
Cabcoco1	T	C	10: 68,272,202 (GRCm39)	M254V	probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Coro7	G	C	16: 4,487,919 (GRCm39)		probably benign	Het
Cylc2	A	G	4: 51,216,706 (GRCm39)	M1V	probably null	Het
Cyp3a11	G	A	5: 145,799,324 (GRCm39)		probably benign	Het
Dnah10	C	T	5: 124,906,641 (GRCm39)	T4224M	probably damaging	Het
Dnah2	T	C	11: 69,339,345 (GRCm39)	E3054G	possibly damaging	Het
Dnm3	A	G	1: 161,847,388 (GRCm39)		probably benign	Het
Efcab5	G	A	11: 77,031,749 (GRCm39)	R42W	probably damaging	Het
Fgf12	T	C	16: 27,981,185 (GRCm39)	N177S	probably null	Het
Flt3	C	T	5: 147,278,037 (GRCm39)	V846I	possibly damaging	Het
Gm11569	A	T	11: 99,689,250 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,303 (GRCm39)	V181G	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Lars1	C	A	18: 42,351,648 (GRCm39)	R852L	probably benign	Het
Lca5	T	C	9: 83,305,222 (GRCm39)	T195A	probably benign	Het
Lrrc40	G	A	3: 157,742,426 (GRCm39)	D14N	probably damaging	Het
Mpp4	A	G	1: 59,169,249 (GRCm39)	F397L	probably damaging	Het
Mtus2	T	C	5: 148,014,994 (GRCm39)	S596P	probably benign	Het
Myo3a	T	A	2: 22,448,301 (GRCm39)	N25K	probably damaging	Het
Nadsyn1	T	C	7: 143,359,770 (GRCm39)	T401A	probably benign	Het
Pde6a	A	T	18: 61,386,809 (GRCm39)	E395D	probably damaging	Het
Plekhm2	A	G	4: 141,357,243 (GRCm39)	V743A	probably benign	Het
Pzp	A	T	6: 128,502,108 (GRCm39)	D80E	probably benign	Het
Rp1	A	T	1: 4,415,575 (GRCm39)	C1846S	probably benign	Het
Shbg	A	G	11: 69,508,014 (GRCm39)	L117P	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Slc5a2	G	C	7: 127,869,803 (GRCm39)	R412P	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Supt20	A	G	3: 54,615,821 (GRCm39)		probably benign	Het
Vcpip1	A	T	1: 9,816,604 (GRCm39)	I593N	probably damaging	Het

Other mutations in Map4k2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01607:Map4k2	APN	19	6,395,623 (GRCm39)	splice site	probably null
IGL02041:Map4k2	APN	19	6,401,348 (GRCm39)	missense	probably benign	0.45
IGL03372:Map4k2	APN	19	6,392,279 (GRCm39)	unclassified	probably benign
IGL03380:Map4k2	APN	19	6,394,620 (GRCm39)	missense	possibly damaging	0.83
R1466:Map4k2	UTSW	19	6,391,947 (GRCm39)	missense	probably damaging	1.00
R1466:Map4k2	UTSW	19	6,391,947 (GRCm39)	missense	probably damaging	1.00
R1612:Map4k2	UTSW	19	6,393,371 (GRCm39)	missense	probably damaging	1.00
R2069:Map4k2	UTSW	19	6,392,768 (GRCm39)	unclassified	probably benign
R2370:Map4k2	UTSW	19	6,391,958 (GRCm39)	nonsense	probably null
R3080:Map4k2	UTSW	19	6,403,218 (GRCm39)	missense	probably damaging	0.99
R3825:Map4k2	UTSW	19	6,394,081 (GRCm39)	missense	probably benign	0.29
R3896:Map4k2	UTSW	19	6,391,958 (GRCm39)	nonsense	probably null
R4088:Map4k2	UTSW	19	6,403,186 (GRCm39)	missense	probably damaging	0.99
R4817:Map4k2	UTSW	19	6,394,459 (GRCm39)	missense	probably damaging	0.97
R4888:Map4k2	UTSW	19	6,394,033 (GRCm39)	missense	probably benign	0.07
R5226:Map4k2	UTSW	19	6,396,534 (GRCm39)	unclassified	probably benign
R5544:Map4k2	UTSW	19	6,395,944 (GRCm39)	critical splice acceptor site	probably null
R5687:Map4k2	UTSW	19	6,395,672 (GRCm39)	unclassified	probably benign
R5688:Map4k2	UTSW	19	6,396,836 (GRCm39)	missense	probably damaging	1.00
R5726:Map4k2	UTSW	19	6,401,362 (GRCm39)	missense	probably damaging	0.99
R5750:Map4k2	UTSW	19	6,401,367 (GRCm39)	missense	probably benign	0.15
R5908:Map4k2	UTSW	19	6,401,346 (GRCm39)	splice site	probably benign
R6402:Map4k2	UTSW	19	6,394,111 (GRCm39)	critical splice donor site	probably null
R6843:Map4k2	UTSW	19	6,403,477 (GRCm39)	missense	probably damaging	0.98
R6942:Map4k2	UTSW	19	6,396,739 (GRCm39)	missense	possibly damaging	0.95
R7227:Map4k2	UTSW	19	6,396,624 (GRCm39)	missense	probably damaging	1.00
R7573:Map4k2	UTSW	19	6,394,094 (GRCm39)	missense	probably benign
R7632:Map4k2	UTSW	19	6,394,084 (GRCm39)	missense	probably benign
R7893:Map4k2	UTSW	19	6,403,541 (GRCm39)	missense	probably damaging	0.98
R8257:Map4k2	UTSW	19	6,396,030 (GRCm39)	missense	probably benign	0.00
R8331:Map4k2	UTSW	19	6,402,853 (GRCm39)	missense	probably damaging	1.00
R8343:Map4k2	UTSW	19	6,396,596 (GRCm39)	missense	probably damaging	1.00
R8795:Map4k2	UTSW	19	6,401,640 (GRCm39)	missense	probably damaging	1.00
R9351:Map4k2	UTSW	19	6,401,223 (GRCm39)	missense	probably benign	0.01
R9414:Map4k2	UTSW	19	6,394,515 (GRCm39)	missense	probably benign	0.00
R9442:Map4k2	UTSW	19	6,392,814 (GRCm39)	missense	probably damaging	1.00
X0010:Map4k2	UTSW	19	6,403,348 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTTGCTCTCACTGGGCTTGAAC -3'
(R):5'- AGGTGTCCCATGATGCACTTCTGC -3'

Sequencing Primer
(F):5'- GGCCTGCCTTGAATTCCAG -3'
(R):5'- TAGGCTCACGGGTGACTTC -3'

Posted On

2013-11-08