Incidental Mutation 'R2931:Map2k4'
ID 264539
Institutional Source Beutler Lab
Gene Symbol Map2k4
Ensembl Gene ENSMUSG00000033352
Gene Name mitogen-activated protein kinase kinase 4
Synonyms Serk1, Sek1, JNKK1, MKK4
MMRRC Submission 040513-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2931 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 65579069-65679123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65647163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 59 (N59K)
Ref Sequence ENSEMBL: ENSMUSP00000137819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046963] [ENSMUST00000130009] [ENSMUST00000140301] [ENSMUST00000152096]
AlphaFold P47809
Predicted Effect probably benign
Transcript: ENSMUST00000046963
AA Change: N48K

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000041282
Gene: ENSMUSG00000033352
AA Change: N48K

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
S_TKc 100 365 9.38e-79 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000130009
AA Change: N59K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137819
Gene: ENSMUSG00000033352
AA Change: N59K

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000140301
AA Change: N48K
SMART Domains Protein: ENSMUSP00000137955
Gene: ENSMUSG00000033352
AA Change: N48K

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000152096
AA Change: N59K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114219
Gene: ENSMUSG00000033352
AA Change: N59K

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
Pfam:Pkinase_Tyr 111 202 2.5e-9 PFAM
Pfam:Pkinase 111 204 1e-13 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormal liver development with a deficiency of parenchymal hepatocytes, severe anemia, and lethality before embryonic day 14.0. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb C T 10: 10,318,246 (GRCm39) V193I possibly damaging Het
Asb2 T C 12: 103,301,146 (GRCm39) D151G probably damaging Het
Cyp2c69 G A 19: 39,837,927 (GRCm39) T385I probably damaging Het
Dhx15 G A 5: 52,324,074 (GRCm39) P406L probably benign Het
Dido1 T C 2: 180,303,446 (GRCm39) E1486G probably damaging Het
Kdm5d T C Y: 942,992 (GRCm39) F1492L probably benign Het
Myo18b A G 5: 112,840,993 (GRCm39) S2267P probably benign Het
Naip2 A T 13: 100,291,529 (GRCm39) D1136E probably benign Het
Otogl A T 10: 107,655,865 (GRCm39) M1080K possibly damaging Het
Pirb A T 7: 3,720,205 (GRCm39) H389Q probably benign Het
Sptan1 A G 2: 29,908,500 (GRCm39) T1739A probably benign Het
Strip1 T A 3: 107,532,975 (GRCm39) probably null Het
Trappc11 A T 8: 47,956,977 (GRCm39) D816E probably damaging Het
Zscan12 A G 13: 21,548,187 (GRCm39) D123G possibly damaging Het
Other mutations in Map2k4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Map2k4 APN 11 65,610,305 (GRCm39) splice site probably benign
IGL01318:Map2k4 APN 11 65,647,089 (GRCm39) splice site probably benign
IGL02500:Map2k4 APN 11 65,587,136 (GRCm39) missense probably damaging 1.00
IGL02628:Map2k4 APN 11 65,581,567 (GRCm39) missense possibly damaging 0.83
IGL02873:Map2k4 APN 11 65,610,400 (GRCm39) missense probably damaging 0.97
IGL03124:Map2k4 APN 11 65,581,617 (GRCm39) missense probably damaging 0.98
R0021:Map2k4 UTSW 11 65,603,110 (GRCm39) missense probably damaging 1.00
R0021:Map2k4 UTSW 11 65,603,110 (GRCm39) missense probably damaging 1.00
R0034:Map2k4 UTSW 11 65,610,437 (GRCm39) splice site probably benign
R0034:Map2k4 UTSW 11 65,610,437 (GRCm39) splice site probably benign
R0646:Map2k4 UTSW 11 65,603,101 (GRCm39) missense probably damaging 1.00
R2073:Map2k4 UTSW 11 65,584,282 (GRCm39) missense probably damaging 0.99
R3800:Map2k4 UTSW 11 65,581,607 (GRCm39) nonsense probably null
R4820:Map2k4 UTSW 11 65,587,201 (GRCm39) splice site probably benign
R4913:Map2k4 UTSW 11 65,600,758 (GRCm39) missense probably damaging 1.00
R5452:Map2k4 UTSW 11 65,610,413 (GRCm39) missense probably damaging 0.97
R5497:Map2k4 UTSW 11 65,626,031 (GRCm39) missense probably damaging 1.00
R5812:Map2k4 UTSW 11 65,626,031 (GRCm39) missense probably damaging 1.00
R5976:Map2k4 UTSW 11 65,600,778 (GRCm39) missense probably benign 0.31
R6282:Map2k4 UTSW 11 65,597,842 (GRCm39) missense possibly damaging 0.78
R6505:Map2k4 UTSW 11 65,584,355 (GRCm39) missense possibly damaging 0.63
R6784:Map2k4 UTSW 11 65,582,577 (GRCm39) unclassified probably benign
R7560:Map2k4 UTSW 11 65,666,583 (GRCm39) missense unknown
R8071:Map2k4 UTSW 11 65,597,827 (GRCm39) missense
R9092:Map2k4 UTSW 11 65,581,599 (GRCm39) missense probably benign
R9342:Map2k4 UTSW 11 65,581,569 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGCACTATTTTCCCAAGTAGAC -3'
(R):5'- TTGGTACCTTTTCAAGCATTGC -3'

Sequencing Primer
(F):5'- AGCCCTGCATTTAGTCAC -3'
(R):5'- ACCTTTTCAAGCATTGCTCTATATTG -3'
Posted On 2015-02-05