Incidental Mutation 'R2370:Map4k2'
ID 247514
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 040350-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R2370 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 6391165-6405645 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 6391958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 91 (E91*)
Ref Sequence ENSEMBL: ENSMUSP00000120123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025897] [ENSMUST00000056391] [ENSMUST00000078137] [ENSMUST00000079327] [ENSMUST00000113500] [ENSMUST00000113501] [ENSMUST00000130382] [ENSMUST00000124556] [ENSMUST00000113502] [ENSMUST00000113503] [ENSMUST00000113504] [ENSMUST00000152349] [ENSMUST00000170132] [ENSMUST00000142496] [ENSMUST00000166909]
AlphaFold Q61161
Predicted Effect probably null
Transcript: ENSMUST00000025897
AA Change: E91*
SMART Domains Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: E91*

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000078137
SMART Domains Protein: ENSMUSP00000077272
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113500
SMART Domains Protein: ENSMUSP00000109128
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113501
SMART Domains Protein: ENSMUSP00000109129
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 183 2.6e-104 PFAM
Pfam:Menin 184 576 3.2e-213 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127809
Predicted Effect probably null
Transcript: ENSMUST00000130382
AA Change: E91*
SMART Domains Protein: ENSMUSP00000120123
Gene: ENSMUSG00000024948
AA Change: E91*

DomainStartEndE-ValueType
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: ENSMUST00000134307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126841
Predicted Effect probably benign
Transcript: ENSMUST00000124556
SMART Domains Protein: ENSMUSP00000121375
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113502
SMART Domains Protein: ENSMUSP00000109130
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 7 515 1.5e-254 PFAM
Pfam:Menin 536 615 4.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128170
SMART Domains Protein: ENSMUSP00000121856
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:CNH 2 142 3.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113503
SMART Domains Protein: ENSMUSP00000109131
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 616 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113504
SMART Domains Protein: ENSMUSP00000109132
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137095
Predicted Effect probably benign
Transcript: ENSMUST00000152349
SMART Domains Protein: ENSMUSP00000115741
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 57 3.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170132
SMART Domains Protein: ENSMUSP00000126655
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 135 1.6e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170292
SMART Domains Protein: ENSMUSP00000128607
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 4 106 1.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142496
SMART Domains Protein: ENSMUSP00000114243
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166909
SMART Domains Protein: ENSMUSP00000133085
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 62 8.9e-29 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 92.8%
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Abca13 A G 11: 9,206,185 (GRCm39) T162A possibly damaging Het
Adamts9 T A 6: 92,837,184 (GRCm39) D578V probably damaging Het
Atp6v1a T C 16: 43,927,403 (GRCm39) T295A probably benign Het
Brinp1 A G 4: 68,681,184 (GRCm39) S449P probably damaging Het
Ccdc40 A G 11: 119,153,943 (GRCm39) T1072A probably benign Het
Chil4 C A 3: 106,121,616 (GRCm39) E78* probably null Het
Cul7 A G 17: 46,972,567 (GRCm39) Y1250C probably damaging Het
Dock3 T C 9: 106,829,554 (GRCm39) D1120G probably damaging Het
Gfod1 A G 13: 43,354,621 (GRCm39) M118T probably benign Het
Ints5 A G 19: 8,874,143 (GRCm39) T701A probably benign Het
Mast4 T A 13: 102,910,695 (GRCm39) E457D probably damaging Het
Mettl4 T C 17: 95,040,576 (GRCm39) D404G probably damaging Het
Mgat4a A G 1: 37,503,614 (GRCm39) F58L probably damaging Het
Myh4 A G 11: 67,146,454 (GRCm39) K1476E probably damaging Het
Myl7 T C 11: 5,846,684 (GRCm39) E175G probably damaging Het
Myo18a A G 11: 77,668,596 (GRCm39) E152G probably benign Het
Ncan G A 8: 70,565,463 (GRCm39) T187I probably benign Het
Nfatc3 A G 8: 106,835,087 (GRCm39) Y803C probably damaging Het
Nlrp4f T C 13: 65,338,660 (GRCm39) Y659C probably damaging Het
Noxred1 T C 12: 87,273,820 (GRCm39) T74A probably benign Het
Ntrk2 A T 13: 59,202,248 (GRCm39) M619L probably benign Het
Or5w18 A T 2: 87,633,159 (GRCm39) N142I probably benign Het
Orc4 A G 2: 48,823,111 (GRCm39) V120A probably benign Het
Polq T A 16: 36,894,301 (GRCm39) Y2037N probably damaging Het
Rimbp2 A G 5: 128,880,908 (GRCm39) C160R probably damaging Het
Rps6ka4 T C 19: 6,807,468 (GRCm39) S721G possibly damaging Het
Skap2 C T 6: 51,898,310 (GRCm39) R140Q probably damaging Het
Srprb C T 9: 103,074,755 (GRCm39) R838H probably damaging Het
Other mutations in Map4k2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAGCTCTCTTCAGCAGGAAATC -3'
(R):5'- ACTACAGCAAAGTGATGTTAGCC -3'

Sequencing Primer
(F):5'- GGAAATCACCATCCTTCGTGAATG -3'
(R):5'- AAATTTCTTCCAGACTCAGGCTGG -3'
Posted On 2014-11-11