Incidental Mutation 'R4088:Map4k2'
ID 317491
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 040981-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R4088 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6391165-6405645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6403186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 763 (H763L)
Ref Sequence ENSEMBL: ENSMUSP00000025897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025897] [ENSMUST00000124556] [ENSMUST00000142496]
AlphaFold Q61161
Predicted Effect probably damaging
Transcript: ENSMUST00000025897
AA Change: H763L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: H763L

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 noncoding transcript
Transcript: ENSMUST00000113496
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: ENSMUST00000128170
SMART Domains Protein: ENSMUSP00000121856
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:CNH 2 142 3.4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140098
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 0.9410 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 96% (55/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik T C 1: 181,055,274 (GRCm39) noncoding transcript Het
Alox12b G T 11: 69,049,211 (GRCm39) V87L probably benign Het
Arsk T G 13: 76,246,533 (GRCm39) N32T probably benign Het
Baz1b T A 5: 135,245,794 (GRCm39) N414K probably damaging Het
Cacna1e A T 1: 154,287,929 (GRCm39) probably null Het
Cdc73 A G 1: 143,484,252 (GRCm39) probably benign Het
Cdhr2 A G 13: 54,865,701 (GRCm39) D233G probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Col4a4 T A 1: 82,501,643 (GRCm39) Y370F unknown Het
Cyp2b9 T C 7: 25,872,881 (GRCm39) L8P probably damaging Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Dnajc6 T A 4: 101,496,593 (GRCm39) V920E probably damaging Het
Eef2kmt A T 16: 5,070,899 (GRCm39) I50N probably damaging Het
Esyt3 T C 9: 99,206,290 (GRCm39) M40V probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gpr26 G T 7: 131,568,805 (GRCm39) C50F probably benign Het
Hmcn1 A G 1: 150,578,967 (GRCm39) I1993T possibly damaging Het
Hsdl2 T A 4: 59,610,636 (GRCm39) L211Q unknown Het
Khdrbs2 A G 1: 32,372,605 (GRCm39) E93G probably damaging Het
Kif13b T C 14: 65,004,904 (GRCm39) probably null Het
Kif15 T A 9: 122,815,254 (GRCm39) L423I probably benign Het
Kmt2c A G 5: 25,492,711 (GRCm39) V834A probably benign Het
Lama3 T A 18: 12,637,365 (GRCm39) Y28* probably null Het
Mrtfb T C 16: 13,202,064 (GRCm39) F120S probably damaging Het
Ndufs3 C T 2: 90,728,689 (GRCm39) probably benign Het
Nfasc A T 1: 132,523,329 (GRCm39) V887E probably damaging Het
Npsr1 G A 9: 24,225,065 (GRCm39) E358K possibly damaging Het
Nrcam T C 12: 44,618,985 (GRCm39) L828P possibly damaging Het
Oprm1 T C 10: 6,780,234 (GRCm39) Y299H probably damaging Het
Or1j15 T A 2: 36,459,030 (GRCm39) L140H probably damaging Het
Osbpl8 T C 10: 111,125,651 (GRCm39) V777A possibly damaging Het
Pcnt T C 10: 76,263,848 (GRCm39) E372G probably damaging Het
Plekhh2 T C 17: 84,925,427 (GRCm39) V1408A probably benign Het
Sbk2 T C 7: 4,960,627 (GRCm39) Y181C probably damaging Het
Sf1 G A 19: 6,418,470 (GRCm39) probably null Het
Slc26a9 A G 1: 131,695,587 (GRCm39) E765G possibly damaging Het
Stab2 A G 10: 86,758,049 (GRCm39) L1073P probably damaging Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Taar3 A G 10: 23,825,757 (GRCm39) D101G possibly damaging Het
Thsd4 T C 9: 59,904,505 (GRCm39) R204G probably benign Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Trim14 T A 4: 46,523,709 (GRCm39) T110S probably benign Het
Trim65 G A 11: 116,017,305 (GRCm39) Q386* probably null Het
Ttn G A 2: 76,748,114 (GRCm39) Q4312* probably null Het
Ubtfl1 T C 9: 18,321,264 (GRCm39) V264A probably damaging Het
Vmn1r58 C A 7: 5,413,654 (GRCm39) W192L probably damaging Het
Washc5 C A 15: 59,211,711 (GRCm39) C969F probably damaging Het
Zdhhc14 A G 17: 5,777,131 (GRCm39) K296R probably benign Het
Zfp281 T A 1: 136,553,859 (GRCm39) I279N probably damaging Het
Zfp9 G T 6: 118,441,730 (GRCm39) P311T 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
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'- GACCACTGTAGATTCCCTATTGCC -3'
(R):5'- TGCAAATACCTGTGAGCCCC -3'

Sequencing Primer
(F):5'- AGATTCCCTATTGCCTTTGGGGAC -3'
(R):5'- CCAGTACTCGGAAGATCCTGGTC -3'
Posted On 2015-05-15