Incidental Mutation 'R4817:Map4k2'
ID 369963
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 042435-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R4817 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6391165-6405645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 6394459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 313 (T313I)
Ref Sequence ENSEMBL: ENSMUSP00000025897 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025897] [ENSMUST00000056391] [ENSMUST00000078137] [ENSMUST00000079327] [ENSMUST00000113500] [ENSMUST00000113501] [ENSMUST00000113502] [ENSMUST00000130382] [ENSMUST00000124556] [ENSMUST00000113503] [ENSMUST00000113504] [ENSMUST00000142496] [ENSMUST00000152349] [ENSMUST00000166909]
AlphaFold Q61161
Predicted Effect probably damaging
Transcript: ENSMUST00000025897
AA Change: T313I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: T313I

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 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 possibly damaging
Transcript: ENSMUST00000130382
AA Change: T269I

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120123
Gene: ENSMUSG00000024948
AA Change: T269I

DomainStartEndE-ValueType
S_TKc 16 233 3.4e-14 SMART
low complexity region 314 325 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133696
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126841
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: ENSMUST00000124556
SMART Domains Protein: ENSMUSP00000121375
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 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 probably benign
Transcript: ENSMUST00000142496
SMART Domains Protein: ENSMUSP00000114243
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184812
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: ENSMUST00000152349
SMART Domains Protein: ENSMUSP00000115741
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 57 3.7e-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 0.0649 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (108/112)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp2 T A 2: 91,033,963 (GRCm39) D44E probably damaging Het
Acp5 T C 9: 22,038,379 (GRCm39) I307M probably benign Het
Ahsa1 A G 12: 87,319,940 (GRCm39) D245G possibly damaging Het
Ankrd40 A G 11: 94,230,459 (GRCm39) K316E probably benign Het
Apol9b G A 15: 77,620,088 (GRCm39) E295K possibly damaging Het
Aqp4 C A 18: 15,532,815 (GRCm39) G93C probably damaging Het
Arhgap21 A G 2: 20,854,967 (GRCm39) V1465A probably benign Het
Arhgap5 C T 12: 52,565,992 (GRCm39) P988S possibly damaging Het
Asxl3 A C 18: 22,658,511 (GRCm39) K2174Q probably damaging Het
Brf1 A T 12: 112,935,921 (GRCm39) I250N probably damaging Het
Calm1 A G 12: 100,169,832 (GRCm39) probably null Het
Ccdc33 C T 9: 57,974,818 (GRCm39) V352M probably damaging Het
Ccdc88a G T 11: 29,410,907 (GRCm39) K464N probably benign Het
Cdadc1 AGACGGA AGA 14: 59,806,440 (GRCm39) probably null Het
Cdc25b T A 2: 131,035,223 (GRCm39) I327N probably damaging Het
Cenpf G A 1: 189,414,566 (GRCm39) H184Y possibly damaging Het
Cimap1d G A 10: 79,475,851 (GRCm39) P238S probably damaging Het
Col6a5 G A 9: 105,811,497 (GRCm39) T674I unknown Het
Creg2 A T 1: 39,662,358 (GRCm39) M258K probably damaging Het
Csf3r T A 4: 125,931,449 (GRCm39) Y477* probably null Het
Cyp3a44 T A 5: 145,740,565 (GRCm39) Y25F possibly damaging Het
Degs2 T A 12: 108,655,325 (GRCm39) R283* probably null Het
Dido1 T C 2: 180,303,209 (GRCm39) N1565S probably benign Het
Dnah6 A T 6: 72,999,407 (GRCm39) M4008K probably benign Het
Dnmbp C A 19: 43,838,411 (GRCm39) G1138V probably benign Het
Drosha A C 15: 12,914,133 (GRCm39) H1136P probably damaging Het
Duox2 T G 2: 122,126,996 (GRCm39) N173T probably damaging Het
Dync1li1 T G 9: 114,534,162 (GRCm39) I87M probably benign Het
E2f8 A C 7: 48,517,494 (GRCm39) S770A probably benign Het
Efemp1 A G 11: 28,876,241 (GRCm39) T469A probably damaging Het
Eif3f A T 7: 108,536,982 (GRCm39) T136S probably damaging Het
Enpp5 T C 17: 44,391,871 (GRCm39) *46R probably null Het
Epb41l4b A G 4: 57,103,428 (GRCm39) V136A probably damaging Het
Fam186a A C 15: 99,831,419 (GRCm39) probably benign Het
Flt4 A G 11: 49,516,242 (GRCm39) Y115C probably damaging Het
Gal T A 19: 3,461,126 (GRCm39) probably null Het
Galnt3 C T 2: 65,923,883 (GRCm39) V462I possibly damaging Het
Gas2l1 A G 11: 5,011,429 (GRCm39) S467P possibly damaging Het
Gbx1 A G 5: 24,731,204 (GRCm39) L204P probably damaging Het
Gle1 T A 2: 29,826,223 (GRCm39) S101T probably benign Het
Gltpd2 A C 11: 70,410,303 (GRCm39) Q87P probably damaging Het
Gm12789 T A 4: 101,846,079 (GRCm39) D113E probably damaging Het
Grin3b G A 10: 79,812,732 (GRCm39) G936R probably benign Het
Gtf3c2 C T 5: 31,331,434 (GRCm39) probably null Het
Gvin3 T A 7: 106,200,437 (GRCm39) noncoding transcript Het
Klhl28 T C 12: 65,004,043 (GRCm39) T157A probably benign Het
Kmt2a A G 9: 44,732,763 (GRCm39) probably benign Het
Lamp1 A G 8: 13,222,541 (GRCm39) T242A probably benign Het
Lhfpl5 T G 17: 28,795,300 (GRCm39) I109S possibly damaging Het
Lhfpl5 T A 17: 28,801,962 (GRCm39) *220R probably null Het
Matn2 A G 15: 34,423,945 (GRCm39) D601G probably damaging Het
Mcur1 C T 13: 43,705,147 (GRCm39) V170M possibly damaging Het
Mphosph10 T C 7: 64,041,969 (GRCm39) probably benign Het
Nat8l G A 5: 34,158,387 (GRCm39) A266T probably benign Het
Nckap5 G T 1: 125,954,952 (GRCm39) D469E possibly damaging Het
Nckap5l G T 15: 99,321,067 (GRCm39) P1238T probably damaging Het
Ngf A G 3: 102,417,156 (GRCm39) probably benign Het
Ntng1 T A 3: 109,842,184 (GRCm39) L196F probably damaging Het
Or2q1 A G 6: 42,794,896 (GRCm39) I164V possibly damaging Het
Or2v2 A T 11: 49,004,448 (GRCm39) V35D probably damaging Het
Pclo A T 5: 14,725,045 (GRCm39) Y1301F unknown Het
Pclo A G 5: 14,763,139 (GRCm39) T3871A unknown Het
Peli3 T C 19: 4,982,594 (GRCm39) E357G probably damaging Het
Pkd1 T A 17: 24,784,348 (GRCm39) probably null Het
Pla2g2c T G 4: 138,461,645 (GRCm39) F38C probably damaging Het
Plekha2 T A 8: 25,549,960 (GRCm39) T126S possibly damaging Het
Polr3f T A 2: 144,376,001 (GRCm39) *142K probably null Het
Ppcs C T 4: 119,276,343 (GRCm39) V81M probably benign Het
Prl7a1 A G 13: 27,819,747 (GRCm39) I169T probably damaging Het
Rbm19 C A 5: 120,271,799 (GRCm39) probably benign Het
Rdh7 T A 10: 127,721,631 (GRCm39) Y215F probably benign Het
Rragd T G 4: 32,995,072 (GRCm39) S62R probably benign Het
Rtel1 T C 2: 180,997,728 (GRCm39) S1114P possibly damaging Het
Serpinb5 G T 1: 106,800,069 (GRCm39) L86F probably damaging Het
Setbp1 A G 18: 78,902,015 (GRCm39) S551P probably damaging Het
Setd6 T C 8: 96,443,683 (GRCm39) probably benign Het
Slmap A C 14: 26,183,507 (GRCm39) M292R probably damaging Het
Srrm4 T C 5: 116,615,193 (GRCm39) D97G unknown Het
Stk-ps2 G A 1: 46,068,125 (GRCm39) noncoding transcript Het
Syce1 A T 7: 140,358,336 (GRCm39) M204K probably benign Het
Syk A G 13: 52,765,242 (GRCm39) K123R probably benign Het
Tbc1d14 A T 5: 36,729,175 (GRCm39) S64T probably damaging Het
Tmt1a3 A T 15: 100,233,214 (GRCm39) D135V probably damaging Het
Traf3ip3 T C 1: 192,867,137 (GRCm39) K295E probably damaging Het
Trp53bp2 T C 1: 182,269,370 (GRCm39) probably null Het
Tsc2 T A 17: 24,815,716 (GRCm39) probably null Het
Tspyl4 T A 10: 34,173,734 (GRCm39) C75* probably null Het
Uqcc2 T C 17: 27,344,133 (GRCm39) I52V probably benign Het
Vcp T A 4: 42,983,486 (GRCm39) T525S probably damaging Het
Vmn2r18 A T 5: 151,508,897 (GRCm39) probably null Het
Vmp1 A G 11: 86,492,879 (GRCm39) V310A probably benign Het
Vps13d T A 4: 144,795,735 (GRCm39) R3671S probably damaging Het
Wdr3 T C 3: 100,053,861 (GRCm39) T544A possibly damaging Het
Zc3h14 C G 12: 98,719,107 (GRCm39) D157E probably damaging Het
Zfp541 T A 7: 15,824,307 (GRCm39) F1010I probably damaging Het
Zfp64 T C 2: 168,768,032 (GRCm39) T527A probably benign Het
Zyx G T 6: 42,333,421 (GRCm39) R449M 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
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'- CCAGCCATGACTGTGACTAAGC -3'
(R):5'- TCACTTGGTGAACTAGGGAAC -3'

Sequencing Primer
(F):5'- AAGCAGTCCTCCTTTCTGTGTGG -3'
(R):5'- CCGATGTATTAGATTAAAAGGGGGTC -3'
Posted On 2016-02-04