Incidental Mutation 'R7475:Map3k2'
ID 579455
Institutional Source Beutler Lab
Gene Symbol Map3k2
Ensembl Gene ENSMUSG00000024383
Gene Name mitogen-activated protein kinase kinase kinase 2
Synonyms MEK kinase 2, Mekk2, 9630061B06Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7475 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 32163089-32236751 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32199962 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 63 (V63A)
Ref Sequence ENSEMBL: ENSMUSP00000094326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096575]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000096575
AA Change: V63A

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000094326
Gene: ENSMUSG00000024383
AA Change: V63A

DomainStartEndE-ValueType
PB1 43 122 6.96e-20 SMART
low complexity region 203 219 N/A INTRINSIC
low complexity region 300 315 N/A INTRINSIC
low complexity region 322 334 N/A INTRINSIC
S_TKc 356 616 2.86e-92 SMART
Meta Mutation Damage Score 0.6436 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (77/78)
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 serine/threonine protein kinase family. This kinase preferentially activates other kinases involved in the MAP kinase signaling pathway. This kinase has been shown to directly phosphorylate and activate Ikappa B kinases, and thus plays a role in NF-kappa B signaling pathway. This kinase has also been found to bind and activate protein kinase C-related kinase 2, which suggests its involvement in a regulated signaling process. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are grossly normal and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,399,989 N214K probably benign Het
Abcf1 A G 17: 35,963,567 probably null Het
Agxt2 A T 15: 10,409,537 M508L probably benign Het
Akr1c21 A T 13: 4,576,319 Y114F probably benign Het
Amz1 T C 5: 140,744,186 probably null Het
Ank1 G T 8: 23,132,630 A1732S probably benign Het
Atg16l1 T C 1: 87,760,083 S50P possibly damaging Het
AW551984 A G 9: 39,597,940 S302P probably damaging Het
Ces3a T A 8: 105,053,690 probably null Het
Dedd C A 1: 171,340,313 P185Q probably benign Het
Fam186a A T 15: 99,947,514 V283E unknown Het
Fat2 C A 11: 55,303,653 V1187F probably benign Het
Fbxw11 T C 11: 32,711,999 probably null Het
Fcgbp C T 7: 28,102,976 T1443I probably damaging Het
Foxj2 A G 6: 122,837,842 D279G probably benign Het
Gbp5 A G 3: 142,501,361 D97G probably damaging Het
Gm49368 A T 7: 128,107,982 T661S possibly damaging Het
Gria4 T G 9: 4,513,330 T260P probably damaging Het
Gtf2ird2 T A 5: 134,201,426 D195E possibly damaging Het
Hectd4 T A 5: 121,358,133 probably null Het
Ifngr2 G A 16: 91,557,909 C32Y unknown Het
Ikzf5 A T 7: 131,392,059 C280S probably benign Het
Ints9 G T 14: 65,026,465 E395D probably null Het
Isoc2b T C 7: 4,851,085 D96G probably benign Het
Jmjd1c T G 10: 67,225,313 S967R probably benign Het
Kcnj3 A T 2: 55,437,326 K42N probably benign Het
Kiz T C 2: 146,891,086 V394A possibly damaging Het
Knl1 A T 2: 119,087,546 H1795L probably damaging Het
Lmntd2 A G 7: 141,210,689 probably null Het
Loxhd1 C A 18: 77,412,305 D1690E possibly damaging Het
Lrp1b T C 2: 41,344,576 D1121G Het
Mcc G T 18: 44,476,236 A499D probably damaging Het
Mcpt9 T A 14: 56,026,943 I232F probably damaging Het
Meltf A G 16: 31,881,938 K92R probably benign Het
Mff T A 1: 82,745,438 probably null Het
Mrgpra3 T A 7: 47,589,947 Y77F probably damaging Het
Mylk G A 16: 34,914,076 probably null Het
Ndufv2 A G 17: 66,087,537 V111A possibly damaging Het
Nkd2 T C 13: 73,825,742 E99G probably damaging Het
Nlk C A 11: 78,583,399 G358V probably damaging Het
Nnmt A T 9: 48,592,232 C165S probably damaging Het
Nxpe4 T A 9: 48,393,340 C242* probably null Het
Oas1b A T 5: 120,817,640 N162I probably damaging Het
Olfr1191-ps1 A G 2: 88,643,210 I148V probably benign Het
Otog A G 7: 46,267,276 N879S probably damaging Het
Park2 A G 17: 11,434,614 D199G probably benign Het
Pcsk7 T A 9: 45,927,625 Y612N probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 probably benign Het
Pgbd5 T C 8: 124,434,011 D39G probably benign Het
Pkhd1l1 C T 15: 44,505,185 Q800* probably null Het
Pkn3 T C 2: 30,087,110 S621P probably benign Het
Polr3c T C 3: 96,715,185 I385V probably benign Het
Ppp1r21 G T 17: 88,555,603 G257W probably benign Het
Pxylp1 C T 9: 96,856,367 probably null Het
Rasgrp1 T C 2: 117,286,108 T613A probably benign Het
Robo3 C T 9: 37,425,378 V387I probably benign Het
Rxfp2 T A 5: 150,049,581 Y174N possibly damaging Het
Sec24a T C 11: 51,713,552 M746V probably damaging Het
Sema4f T A 6: 82,914,374 E571D possibly damaging Het
Sept3 T C 15: 82,286,456 V217A probably benign Het
Serpinb1b A C 13: 33,093,565 K260N probably benign Het
Sin3b A G 8: 72,749,872 T645A possibly damaging Het
Sobp C T 10: 43,021,834 R585Q probably damaging Het
Specc1l T A 10: 75,246,447 L559Q possibly damaging Het
Srxn1 C T 2: 152,105,653 probably benign Het
Sspo G A 6: 48,455,860 R890Q probably benign Het
Stard9 A G 2: 120,688,110 D505G probably damaging Het
Tjp1 A T 7: 65,322,339 I653K probably damaging Het
Tnks C T 8: 34,831,712 E1296K probably damaging Het
Ttbk2 A T 2: 120,748,640 I667N probably benign Het
Usp24 T C 4: 106,342,353 S165P possibly damaging Het
Usp46 T A 5: 74,028,937 K109* probably null Het
Vmn1r191 A G 13: 22,178,772 C271R probably benign Het
Wisp3 T A 10: 39,158,300 Y102F probably damaging Het
Zfp592 T C 7: 81,023,452 S55P probably damaging Het
Zmynd15 T C 11: 70,461,041 S158P probably benign Het
Zscan22 T G 7: 12,906,737 C303G probably damaging Het
Other mutations in Map3k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Map3k2 APN 18 32228239 missense probably benign 0.00
IGL00774:Map3k2 APN 18 32228239 missense probably benign 0.00
IGL01993:Map3k2 APN 18 32226631 nonsense probably null
IGL02043:Map3k2 APN 18 32207534 missense probably damaging 1.00
IGL02314:Map3k2 APN 18 32218500 splice site probably benign
IGL02441:Map3k2 APN 18 32200046 splice site probably benign
IGL03350:Map3k2 APN 18 32212148 missense probably damaging 0.98
IGL03097:Map3k2 UTSW 18 32200017 missense probably benign 0.01
PIT4434001:Map3k2 UTSW 18 32210035 missense possibly damaging 0.51
R0086:Map3k2 UTSW 18 32218468 missense probably damaging 1.00
R0374:Map3k2 UTSW 18 32212173 splice site probably null
R0445:Map3k2 UTSW 18 32217210 missense probably damaging 0.96
R1158:Map3k2 UTSW 18 32217158 missense probably benign 0.00
R1415:Map3k2 UTSW 18 32228277 missense possibly damaging 0.82
R1667:Map3k2 UTSW 18 32203792 splice site probably benign
R1926:Map3k2 UTSW 18 32203110 missense probably damaging 0.99
R3795:Map3k2 UTSW 18 32226648 missense probably benign 0.00
R4607:Map3k2 UTSW 18 32199977 missense probably damaging 1.00
R4793:Map3k2 UTSW 18 32228150 missense probably damaging 1.00
R5332:Map3k2 UTSW 18 32207456 missense probably damaging 0.98
R5492:Map3k2 UTSW 18 32228136 missense probably damaging 1.00
R6008:Map3k2 UTSW 18 32203051 missense probably damaging 1.00
R6317:Map3k2 UTSW 18 32203033 missense probably damaging 1.00
R6356:Map3k2 UTSW 18 32211970 missense probably damaging 1.00
R6841:Map3k2 UTSW 18 32226629 missense probably benign 0.12
R6928:Map3k2 UTSW 18 32207540 critical splice donor site probably null
R7696:Map3k2 UTSW 18 32220594 missense probably benign 0.00
R8774:Map3k2 UTSW 18 32212064 missense probably damaging 1.00
R8774-TAIL:Map3k2 UTSW 18 32212064 missense probably damaging 1.00
R9103:Map3k2 UTSW 18 32220572 missense possibly damaging 0.91
R9282:Map3k2 UTSW 18 32209752 missense probably damaging 0.99
R9800:Map3k2 UTSW 18 32200016 missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GCAGTCTATTACACACATGCACAG -3'
(R):5'- TGTGCATCTCACTCCTATAATGTAC -3'

Sequencing Primer
(F):5'- GATTTAAACACTCTCCTAAGTAGCAC -3'
(R):5'- GGACTACTAAAAATAGTATGCGT -3'
Posted On 2019-10-07