Incidental Mutation 'R5750:Map4k2'
ID 445992
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 043356-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # R5750 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 6391165-6405645 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6401367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 612 (S612R)
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: S612R

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: S612R

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 unknown
Transcript: ENSMUST00000128170
AA Change: S66R
SMART Domains Protein: ENSMUSP00000121856
Gene: ENSMUSG00000024948
AA Change: S66R

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: ENSMUST00000140098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184812
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (55/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmat G A 4: 141,476,998 (GRCm39) V135I probably benign Het
Agr3 T C 12: 35,996,941 (GRCm39) Y72H probably benign Het
Ankhd1 T A 18: 36,757,955 (GRCm39) M883K probably benign Het
Cpeb1 A T 7: 81,086,099 (GRCm39) D9E probably benign Het
Creb3l1 C T 2: 91,816,608 (GRCm39) V386M possibly damaging Het
Dnlz C T 2: 26,241,423 (GRCm39) V102M probably damaging Het
Esp4 C T 17: 40,913,286 (GRCm39) T51M probably benign Het
Fap C A 2: 62,359,058 (GRCm39) C443F probably damaging Het
Fbxo17 G A 7: 28,436,897 (GRCm39) R284H probably damaging Het
Fpr1 T A 17: 18,097,525 (GRCm39) I155F probably benign Het
Fshr T A 17: 89,293,669 (GRCm39) L336F probably benign Het
Gna15 G A 10: 81,345,230 (GRCm39) Q212* probably null Het
Hk1 A G 10: 62,110,245 (GRCm39) F785L possibly damaging Het
Ints8 T A 4: 11,241,654 (GRCm39) Q263L possibly damaging Het
Itgax T C 7: 127,743,878 (GRCm39) F880L probably benign Het
Kcnq4 A C 4: 120,572,246 (GRCm39) V327G probably damaging Het
Kdm4a A G 4: 117,999,396 (GRCm39) probably benign Het
Leng8 C T 7: 4,145,119 (GRCm39) S173L probably benign Het
Lrrc37a C T 11: 103,348,923 (GRCm39) D2591N unknown Het
Macrod2 T A 2: 141,357,240 (GRCm39) S179T probably benign Het
Mast2 A G 4: 116,166,086 (GRCm39) probably benign Het
Micall2 C T 5: 139,701,456 (GRCm39) probably null Het
Miga2 T A 2: 30,261,577 (GRCm39) W191R probably damaging Het
Mterf1b T C 5: 4,246,683 (GRCm39) I108T probably damaging Het
Myh2 A G 11: 67,082,254 (GRCm39) I1319V probably benign Het
Nalcn T C 14: 123,809,450 (GRCm39) E234G probably benign Het
Ncoa4 T A 14: 31,899,264 (GRCm39) C602* probably null Het
Ntrk2 C A 13: 58,956,736 (GRCm39) P65Q probably benign Het
Or52z15 G A 7: 103,332,362 (GRCm39) V136I possibly damaging Het
Or6c215 C T 10: 129,637,489 (GRCm39) V302M probably benign Het
P3h1 A T 4: 119,095,863 (GRCm39) I324F probably damaging Het
Peli2 G T 14: 48,493,632 (GRCm39) V285L possibly damaging Het
Qser1 A G 2: 104,619,268 (GRCm39) S515P probably damaging Het
Rnf31 C T 14: 55,836,143 (GRCm39) R721C probably damaging Het
Rps5 A G 7: 12,659,334 (GRCm39) K42E probably damaging Het
Rufy4 A T 1: 74,172,068 (GRCm39) T264S probably benign Het
Shq1 A T 6: 100,588,775 (GRCm39) V259D possibly damaging Het
Slc22a3 T C 17: 12,652,395 (GRCm39) I410V probably benign Het
Stx5a T C 19: 8,732,501 (GRCm39) probably benign Het
Syne1 G T 10: 5,289,209 (GRCm39) H1430Q probably benign Het
Tasor2 G A 13: 3,623,642 (GRCm39) Q1421* probably null Het
Tmem126b A C 7: 90,118,865 (GRCm39) V141G probably damaging Het
Trim52 C A 14: 106,344,932 (GRCm39) Q197K probably benign Het
Tshz1 A G 18: 84,032,086 (GRCm39) L774P possibly damaging Het
Ttn T C 2: 76,602,031 (GRCm39) S10217G possibly damaging Het
Unc45a A G 7: 79,984,571 (GRCm39) V228A probably benign Het
Unc93a2 C T 17: 7,637,130 (GRCm39) V133I probably benign Het
Vwa2 G T 19: 56,897,663 (GRCm39) G656V probably benign Het
Xpo5 T C 17: 46,529,556 (GRCm39) probably null Het
Zeb2 T A 2: 44,887,530 (GRCm39) Q494L 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
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'- TGATCTTGACCCCTACAGGC -3'
(R):5'- CATGGAACAGGACTCGACAG -3'

Sequencing Primer
(F):5'- TGACCCCTACAGGCGCTTTG -3'
(R):5'- GTGGCAGCTCCTTCCCATCTAG -3'
Posted On 2016-11-21