Mutagenetix > Incidental Mutation

Incidental Mutation 'R3825:Map4k2'

275378

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

040774-MU

Accession Numbers

Essential gene?

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

Stock #

R3825 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6391165-6405645 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6394081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 252 (T252N)

Ref Sequence

ENSEMBL: ENSMUSP00000120123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025897] [ENSMUST00000056391] [ENSMUST00000078137] [ENSMUST00000079327] [ENSMUST00000113500] [ENSMUST00000113501] [ENSMUST00000113502] [ENSMUST00000130382] [ENSMUST00000142496] [ENSMUST00000113503] [ENSMUST00000113504] [ENSMUST00000124556] [ENSMUST00000166909] [ENSMUST00000152349]

AlphaFold

Q61161

Predicted Effect

probably benign
Transcript: ENSMUST00000025897
AA Change: T296N

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: T296N

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 benign
Transcript: ENSMUST00000130382
AA Change: T252N

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120123
Gene: ENSMUSG00000024948
AA Change: T252N

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: ENSMUST00000133696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124333

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: ENSMUST00000142496

SMART Domains

Protein: ENSMUSP00000114243
Gene: ENSMUSG00000024948

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113503

SMART Domains

Protein: ENSMUSP00000109131
Gene: ENSMUSG00000024947

Domain	Start	End	E-Value	Type
Pfam:Menin	1	616	N/A	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: ENSMUST00000124556

SMART Domains

Protein: ENSMUSP00000121375
Gene: ENSMUSG00000024948

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152912

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156154

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155569

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

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

Meta Mutation Damage Score

0.0642

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (63/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	G	11: 117,693,739 (GRCm39)	K69E	probably damaging	Het
Abcb5	C	T	12: 118,865,087 (GRCm39)		probably null	Het
Acot1	G	T	12: 84,061,194 (GRCm39)	G167*	probably null	Het
Agbl1	C	T	7: 76,069,715 (GRCm39)	H164Y	probably damaging	Het
Atp4b	T	C	8: 13,443,549 (GRCm39)	Y43C	probably damaging	Het
Bsn	T	C	9: 107,984,055 (GRCm39)	D3333G	unknown	Het
Ccdc27	A	C	4: 154,120,742 (GRCm39)	D351E	unknown	Het
Cd200r4	T	C	16: 44,641,313 (GRCm39)	F19L	probably benign	Het
Dbndd1	T	A	8: 124,236,731 (GRCm39)	I75F	probably damaging	Het
Dennd5b	T	C	6: 148,946,334 (GRCm39)	K426E	probably benign	Het
Drg2	A	G	11: 60,350,334 (GRCm39)	T98A	possibly damaging	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Fmo1	T	C	1: 162,678,916 (GRCm39)		probably benign	Het
Foxn2	A	T	17: 88,791,837 (GRCm39)	I236F	probably damaging	Het
Glmp	G	A	3: 88,233,718 (GRCm39)	V107I	probably damaging	Het
Gpr15	A	G	16: 58,538,723 (GRCm39)	F122S	probably damaging	Het
Gvin-ps3	T	C	7: 105,682,780 (GRCm39)	I158M	possibly damaging	Het
Hmcn1	A	T	1: 150,462,716 (GRCm39)	D5140E	probably benign	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Igfbp4	A	G	11: 98,939,061 (GRCm39)	E27G	probably damaging	Het
Il7	A	G	3: 7,642,226 (GRCm39)		probably benign	Het
Kat6a	G	T	8: 23,352,380 (GRCm39)	V55F	probably damaging	Het
Kynu	A	G	2: 43,571,451 (GRCm39)	T456A	probably benign	Het
Lcorl	A	G	5: 45,932,729 (GRCm39)		probably benign	Het
Lrp5	G	A	19: 3,655,290 (GRCm39)	R1077*	probably null	Het
Mab21l2	T	C	3: 86,454,211 (GRCm39)	E263G	possibly damaging	Het
Macf1	T	A	4: 123,338,744 (GRCm39)	D1436V	probably benign	Het
Mterf2	A	T	10: 84,956,147 (GRCm39)	L159Q	probably damaging	Het
Muc5ac	C	A	7: 141,368,460 (GRCm39)	T3063K	possibly damaging	Het
Myo18a	T	A	11: 77,668,292 (GRCm39)	S51T	possibly damaging	Het
Ncoa3	G	T	2: 165,896,718 (GRCm39)	G503V	possibly damaging	Het
Ncor1	A	T	11: 62,264,183 (GRCm39)	H406Q	probably benign	Het
Nectin2	T	C	7: 19,458,510 (GRCm39)	K434E	possibly damaging	Het
Nipal2	A	T	15: 34,578,852 (GRCm39)		probably null	Het
Nub1	G	C	5: 24,912,851 (GRCm39)	S517T	probably benign	Het
Or10a4	T	C	7: 106,696,816 (GRCm39)	L48P	possibly damaging	Het
Or4d10c	A	G	19: 12,065,391 (GRCm39)	V255A	probably damaging	Het
Or8b101	A	T	9: 38,020,134 (GRCm39)	I51F	possibly damaging	Het
Or8c17	T	G	9: 38,179,814 (GRCm39)	S2A	probably benign	Het
Plscr3	G	A	11: 69,740,964 (GRCm39)	V267M	probably benign	Het
Plxnb2	G	T	15: 89,050,602 (GRCm39)	N451K	probably benign	Het
Ppp2r2a	A	G	14: 67,259,892 (GRCm39)	L268P	probably damaging	Het
Ptprb	A	T	10: 116,186,694 (GRCm39)	I1743F	probably benign	Het
Rack1	A	G	11: 48,693,131 (GRCm39)	T105A	probably benign	Het
Rhot1	G	A	11: 80,116,907 (GRCm39)	V94I	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Smc6	T	A	12: 11,351,517 (GRCm39)		probably benign	Het
Spink8	T	A	9: 109,645,861 (GRCm39)	V11D	probably damaging	Het
Ss18l1	A	T	2: 179,705,103 (GRCm39)	Q365L	unknown	Het
Tbc1d31	T	A	15: 57,779,474 (GRCm39)	H62Q	probably benign	Het
Tbc1d9b	T	C	11: 50,061,954 (GRCm39)	V1171A	possibly damaging	Het
Tln1	G	A	4: 43,536,413 (GRCm39)		probably benign	Het
Tmem220	G	A	11: 66,916,077 (GRCm39)	A25T	possibly damaging	Het
Tmem259	T	C	10: 79,814,282 (GRCm39)	N334S	possibly damaging	Het
Tmod3	A	T	9: 75,414,809 (GRCm39)		probably benign	Het
Tmprss2	A	T	16: 97,398,021 (GRCm39)	Y52N	probably damaging	Het
Tsga10	A	T	1: 37,873,278 (GRCm39)	N200K	possibly damaging	Het
Ube2frt	T	C	12: 36,141,036 (GRCm39)		probably benign	Het
Vmn1r189	T	A	13: 22,286,382 (GRCm39)	T152S	probably benign	Het
Vmn2r76	C	T	7: 85,880,415 (GRCm39)	M90I	probably benign	Het
Zfr	C	T	15: 12,166,277 (GRCm39)	A849V	probably damaging	Het
Znhit6	T	C	3: 145,284,099 (GRCm39)	M95T	probably benign	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
R0968:Map4k2	UTSW	19	6,395,487 (GRCm39)	missense	probably damaging	0.98
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
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'- TCAAGCTGGCCCTAACCAAG -3'
(R):5'- AAGGAGGACTGCTTAGTCACAG -3'

Sequencing Primer
(F):5'- TACAGCAGAGAGGCTTCTGC -3'
(R):5'- AGGACTGCTTAGTCACAGTCATG -3'

Posted On

2015-04-02