Incidental Mutation 'R9351:Map4k2'
ID 708100
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R9351 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 6391165-6405645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6401223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 590 (S590P)
Ref Sequence ENSEMBL: ENSMUSP00000025897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025897] [ENSMUST00000124556] [ENSMUST00000142496]
AlphaFold Q61161
Predicted Effect probably benign
Transcript: ENSMUST00000025897
AA Change: S590P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: S590P

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: ENSMUST00000124556
SMART Domains Protein: ENSMUSP00000121375
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000121856
Gene: ENSMUSG00000024948
AA Change: S44P

DomainStartEndE-ValueType
Pfam:CNH 2 142 3.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142496
SMART Domains Protein: ENSMUSP00000114243
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 PFAM
Meta Mutation Damage Score 0.7160 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (54/54)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,066,068 (GRCm39) T84A probably benign Het
Abca17 G A 17: 24,510,751 (GRCm39) S909L probably benign Het
Adamtsl3 A T 7: 82,169,929 (GRCm39) Y371F possibly damaging Het
Adcy9 A T 16: 4,236,228 (GRCm39) S394R probably damaging Het
Ahcyl1 T C 3: 107,575,011 (GRCm39) N444S probably damaging Het
Ahnak A C 19: 8,985,232 (GRCm39) D2172A probably damaging Het
Arhgef28 C T 13: 98,130,576 (GRCm39) D421N probably benign Het
Brd1 T A 15: 88,614,307 (GRCm39) E196V possibly damaging Het
Cabs1 A G 5: 88,128,300 (GRCm39) D317G probably damaging Het
Ccdc96 T C 5: 36,642,069 (GRCm39) I25T unknown Het
Clgn A G 8: 84,153,218 (GRCm39) R607G possibly damaging Het
Clp1 T C 2: 84,554,195 (GRCm39) K325E probably benign Het
Dcun1d1 A T 3: 35,975,185 (GRCm39) I52K probably benign Het
Dync2h1 G A 9: 7,176,911 (GRCm39) T16I probably damaging Het
Eif4a3l1 A T 6: 136,306,771 (GRCm39) I411F probably benign Het
Epb41l5 A G 1: 119,477,639 (GRCm39) F711L probably benign Het
Esr1 G A 10: 4,696,763 (GRCm39) W204* probably null Het
Fat2 A G 11: 55,172,127 (GRCm39) L2862P probably damaging Het
Frmd3 A G 4: 74,054,068 (GRCm39) E159G probably damaging Het
Gsto2 T A 19: 47,874,608 (GRCm39) C243S possibly damaging Het
Heg1 A G 16: 33,545,867 (GRCm39) H206R probably benign Het
Ifi203 A G 1: 173,750,133 (GRCm39) V862A probably benign Het
Ippk C T 13: 49,615,107 (GRCm39) H497Y probably benign Het
Irf5 A T 6: 29,531,317 (GRCm39) N61I possibly damaging Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Kcnj12 C T 11: 60,960,673 (GRCm39) H324Y probably damaging Het
Kdm2a C T 19: 4,393,141 (GRCm39) D405N Het
Lars2 A G 9: 123,265,366 (GRCm39) Q474R probably benign Het
Lctl T C 9: 64,040,473 (GRCm39) F472S possibly damaging Het
Mcf2l G T 8: 13,050,757 (GRCm39) L337F possibly damaging Het
Mvp A G 7: 126,595,435 (GRCm39) V225A probably damaging Het
Nfat5 T A 8: 108,065,910 (GRCm39) D241E probably damaging Het
Or6n2 T A 1: 173,897,021 (GRCm39) D52E probably benign Het
Pagr1a A T 7: 126,616,073 (GRCm39) H7Q probably damaging Het
Parp8 G T 13: 117,000,781 (GRCm39) Q787K probably damaging Het
Pcdhb2 C A 18: 37,429,369 (GRCm39) N90K probably damaging Het
Pde6h A G 6: 136,936,332 (GRCm39) K25R probably benign Het
Prr35 G A 17: 26,166,118 (GRCm39) Q390* probably null Het
Psd3 C A 8: 68,413,301 (GRCm39) A410S probably benign Het
Pus10 A G 11: 23,617,311 (GRCm39) N8S probably benign Het
Rnf115 T C 3: 96,695,994 (GRCm39) L260S probably damaging Het
Sdsl A T 5: 120,601,159 (GRCm39) Y38N probably benign Het
Sf1 A G 19: 6,415,694 (GRCm39) D11G probably damaging Het
Stxbp5l A G 16: 36,936,047 (GRCm39) Y1177H probably damaging Het
Taar2 G A 10: 23,816,900 (GRCm39) V147I probably benign Het
Tmed3 A T 9: 89,584,980 (GRCm39) F92I possibly damaging Het
Tmprss15 T C 16: 78,832,086 (GRCm39) T357A probably damaging Het
Trbv14 A T 6: 41,112,428 (GRCm39) D75V probably damaging Het
Vmn1r30 A G 6: 58,412,262 (GRCm39) V190A probably benign Het
Vmn2r115 A T 17: 23,578,482 (GRCm39) I652F probably benign Het
Vmn2r26 A T 6: 124,016,333 (GRCm39) M266L probably benign Het
Wdr17 T C 8: 55,143,057 (GRCm39) I198V probably benign Het
Wdr27 G A 17: 15,128,833 (GRCm39) A540V possibly damaging Het
Zfp26 A C 9: 20,349,447 (GRCm39) Y372* probably null Het
Zfp286 A G 11: 62,670,801 (GRCm39) V424A 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
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
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'- AGTTCCTTACAGCTCTTGCAG -3'
(R):5'- CTTCAGCAGCAGGAATTTCTG -3'

Sequencing Primer
(F):5'- TTACAGCTCTTGCAGGCCGG -3'
(R):5'- AGTGGCTCATACCATTGCAG -3'
Posted On 2022-04-18