Incidental Mutation 'R6261:Map2k5'
ID 506708
Institutional Source Beutler Lab
Gene Symbol Map2k5
Ensembl Gene ENSMUSG00000058444
Gene Name mitogen-activated protein kinase kinase 5
Synonyms MEK5
MMRRC Submission 044404-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6261 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 63071050-63285184 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 63245380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 140 (L140I)
Ref Sequence ENSEMBL: ENSMUSP00000034920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034920]
AlphaFold Q9WVS7
PDB Structure Solution structure of the PB1 domain of mouse mitogen activated protein kinase kinase 5 (MAP2K5) [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000034920
AA Change: L140I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034920
Gene: ENSMUSG00000058444
AA Change: L140I

DomainStartEndE-ValueType
PB1 18 97 7.59e-12 SMART
S_TKc 166 419 7.75e-71 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216999
Meta Mutation Damage Score 0.0684 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (65/65)
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 dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygous mutants die at E10.5 and exhibit abnormal cardiac development and a decrease in proliferation and an increase in apoptosis in the heart, head, and dorsal regions of the embryo. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 T C 2: 164,636,979 (GRCm39) D257G probably damaging Het
Adamtsl1 T C 4: 86,255,115 (GRCm39) V736A probably benign Het
Anln A G 9: 22,275,342 (GRCm39) L521S probably damaging Het
Arfgap2 T G 2: 91,100,627 (GRCm39) S311A probably benign Het
Brdt A T 5: 107,496,369 (GRCm39) E160D probably benign Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Cd59a G C 2: 103,934,550 (GRCm39) G6A probably damaging Het
Cd5l C T 3: 87,275,915 (GRCm39) P295L probably benign Het
Cdhr17 T C 5: 17,017,183 (GRCm39) noncoding transcript Het
Cnot1 A G 8: 96,468,549 (GRCm39) S1432P probably benign Het
Cnot8 T A 11: 58,004,877 (GRCm39) I192N probably damaging Het
Col4a1 G T 8: 11,257,409 (GRCm39) probably null Het
Cuta A G 17: 27,158,301 (GRCm39) L11P possibly damaging Het
Cyp2c39 G A 19: 39,556,463 (GRCm39) R433H probably damaging Het
Cyp4a12b T A 4: 115,271,740 (GRCm39) Y150* probably null Het
Dcaf15 G A 8: 84,825,734 (GRCm39) A291V probably benign Het
Dcstamp A T 15: 39,618,131 (GRCm39) H180L possibly damaging Het
Egfr A G 11: 16,839,964 (GRCm39) I659M probably benign Het
Fzd8 A G 18: 9,214,598 (GRCm39) E560G possibly damaging Het
Gm5111 A T 6: 48,566,526 (GRCm39) probably benign Het
Gm7945 T C 14: 41,104,780 (GRCm39) T214A unknown Het
Gpi1 T C 7: 33,920,170 (GRCm39) T168A possibly damaging Het
Gys2 T C 6: 142,405,134 (GRCm39) I218V probably benign Het
Gzmf T A 14: 56,443,949 (GRCm39) I74L probably benign Het
Hacl1 G A 14: 31,357,728 (GRCm39) A70V probably damaging Het
Herc2 T A 7: 55,846,820 (GRCm39) L3590* probably null Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Igfals G T 17: 25,100,339 (GRCm39) V477F possibly damaging Het
Igkv8-28 A T 6: 70,120,874 (GRCm39) V23E probably benign Het
Isg20l2 T A 3: 87,839,395 (GRCm39) V202E probably damaging Het
Jakmip2 A G 18: 43,708,599 (GRCm39) I288T probably benign Het
Kansl3 A G 1: 36,404,686 (GRCm39) V88A probably benign Het
Kcna3 A G 3: 106,945,266 (GRCm39) T510A possibly damaging Het
Map3k19 A G 1: 127,750,336 (GRCm39) I1005T possibly damaging Het
Mmp25 G A 17: 23,849,768 (GRCm39) A541V possibly damaging Het
Ms4a14 T A 19: 11,281,384 (GRCm39) E391D probably benign Het
Mtrf1l A G 10: 5,765,550 (GRCm39) probably null Het
Myom1 A G 17: 71,433,132 (GRCm39) N1591S probably damaging Het
Nos1 G A 5: 118,074,635 (GRCm39) V1060M probably benign Het
Nsun5 C T 5: 135,400,385 (GRCm39) T142M probably damaging Het
Odc1 A G 12: 17,600,655 (GRCm39) E430G probably benign Het
Or8g36 C A 9: 39,422,105 (GRCm39) V304F probably benign Het
P2ry12 T C 3: 59,125,328 (GRCm39) I116V probably null Het
Patl1 T A 19: 11,897,695 (GRCm39) V94E probably damaging Het
Plin3 A T 17: 56,588,488 (GRCm39) Y255* probably null Het
Pou6f1 T C 15: 100,477,827 (GRCm39) T439A probably damaging Het
Prdm13 T C 4: 21,678,366 (GRCm39) K708R probably damaging Het
Prr14l A G 5: 32,986,748 (GRCm39) S916P possibly damaging Het
Rab34 T A 11: 78,082,028 (GRCm39) probably null Het
Rps7 A G 12: 28,685,593 (GRCm39) S21P possibly damaging Het
Scn9a A T 2: 66,314,240 (GRCm39) L1815Q probably damaging Het
Sesn3 A G 9: 14,232,459 (GRCm39) Y244C probably benign Het
Slc15a2 A G 16: 36,581,973 (GRCm39) F284L probably benign Het
Slc25a44 C T 3: 88,328,218 (GRCm39) G72D probably damaging Het
Slco6d1 A G 1: 98,427,588 (GRCm39) T640A probably benign Het
Sspo A T 6: 48,439,125 (GRCm39) E1591V possibly damaging Het
Tbata C A 10: 61,011,644 (GRCm39) T60K possibly damaging Het
Tbc1d2 T A 4: 46,637,692 (GRCm39) T185S possibly damaging Het
Tlcd4 T A 3: 121,028,708 (GRCm39) I60F possibly damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Tnnt2 C A 1: 135,778,292 (GRCm39) probably null Het
Trex1 A G 9: 108,887,709 (GRCm39) V94A probably benign Het
Ubtfl1 A C 9: 18,320,592 (GRCm39) D40A possibly damaging Het
Zc3hav1 A T 6: 38,309,935 (GRCm39) Y296N probably benign Het
Zfp521 T A 18: 13,977,684 (GRCm39) N910Y probably damaging Het
Zfp53 A G 17: 21,728,975 (GRCm39) E336G possibly damaging Het
Other mutations in Map2k5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Map2k5 APN 9 63,188,359 (GRCm39) splice site probably benign
IGL01412:Map2k5 APN 9 63,200,988 (GRCm39) missense probably damaging 1.00
IGL01766:Map2k5 APN 9 63,284,509 (GRCm39) missense probably benign
IGL02246:Map2k5 APN 9 63,284,411 (GRCm39) missense probably benign 0.10
IGL02270:Map2k5 APN 9 63,229,479 (GRCm39) splice site probably null
IGL02793:Map2k5 APN 9 63,164,321 (GRCm39) missense probably benign 0.32
IGL03236:Map2k5 APN 9 63,193,674 (GRCm39) splice site probably benign
R0007:Map2k5 UTSW 9 63,201,006 (GRCm39) missense probably damaging 1.00
R0217:Map2k5 UTSW 9 63,164,257 (GRCm39) critical splice donor site probably null
R0315:Map2k5 UTSW 9 63,210,433 (GRCm39) missense probably damaging 1.00
R0801:Map2k5 UTSW 9 63,265,261 (GRCm39) splice site probably benign
R1122:Map2k5 UTSW 9 63,170,445 (GRCm39) missense probably damaging 1.00
R1822:Map2k5 UTSW 9 63,142,585 (GRCm39) missense possibly damaging 0.79
R4308:Map2k5 UTSW 9 63,142,586 (GRCm39) missense probably benign 0.02
R4421:Map2k5 UTSW 9 63,071,412 (GRCm39) missense probably damaging 0.96
R4720:Map2k5 UTSW 9 63,201,001 (GRCm39) missense probably damaging 1.00
R4869:Map2k5 UTSW 9 63,229,525 (GRCm39) nonsense probably null
R5059:Map2k5 UTSW 9 63,164,296 (GRCm39) missense probably benign 0.41
R5138:Map2k5 UTSW 9 63,170,440 (GRCm39) missense probably damaging 0.99
R6005:Map2k5 UTSW 9 63,188,301 (GRCm39) missense probably damaging 1.00
R6258:Map2k5 UTSW 9 63,124,647 (GRCm39) missense probably benign 0.16
R6498:Map2k5 UTSW 9 63,193,683 (GRCm39) missense possibly damaging 0.74
R6808:Map2k5 UTSW 9 63,229,528 (GRCm39) missense probably benign 0.00
R7228:Map2k5 UTSW 9 63,265,304 (GRCm39) missense probably damaging 1.00
R7819:Map2k5 UTSW 9 63,265,300 (GRCm39) missense probably damaging 0.99
R8017:Map2k5 UTSW 9 63,246,403 (GRCm39) missense probably damaging 0.98
R8053:Map2k5 UTSW 9 63,250,707 (GRCm39) missense probably benign 0.16
R8247:Map2k5 UTSW 9 63,279,019 (GRCm39) missense probably damaging 1.00
R8309:Map2k5 UTSW 9 63,246,361 (GRCm39) critical splice donor site probably null
R8341:Map2k5 UTSW 9 63,246,380 (GRCm39) missense probably damaging 1.00
R8878:Map2k5 UTSW 9 63,250,667 (GRCm39) critical splice donor site probably null
R9149:Map2k5 UTSW 9 63,201,006 (GRCm39) missense probably damaging 1.00
Z1176:Map2k5 UTSW 9 63,265,320 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTGCAGTCAATATGTAGCAAGAGC -3'
(R):5'- TCCAGATTGTACACTTCTGTAGCATG -3'

Sequencing Primer
(F):5'- GACAAGTGTGTTGCACCA -3'
(R):5'- CTGAATATACTCCAGCAGTGGGTC -3'
Posted On 2018-03-15