Incidental Mutation 'IGL00826:Map2k2'
ID 277997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map2k2
Ensembl Gene ENSMUSG00000035027
Gene Name mitogen-activated protein kinase kinase 2
Synonyms MEK2, Prkmk2, MAP kinase/Erk kinase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00826
Quality Score
Status
Chromosome 10
Chromosomal Location 80941749-80960531 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80954052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 173 (V173I)
Ref Sequence ENSEMBL: ENSMUSP00000100968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048223] [ENSMUST00000105331] [ENSMUST00000136743] [ENSMUST00000143517] [ENSMUST00000220329]
AlphaFold Q63932
Predicted Effect probably benign
Transcript: ENSMUST00000048223
AA Change: V173I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000137918
Gene: ENSMUSG00000035027
AA Change: V173I

DomainStartEndE-ValueType
low complexity region 36 52 N/A INTRINSIC
Pfam:Pkinase_Tyr 72 191 1.2e-10 PFAM
Pfam:Pkinase 72 196 5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105331
AA Change: V173I

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100968
Gene: ENSMUSG00000035027
AA Change: V173I

DomainStartEndE-ValueType
low complexity region 36 52 N/A INTRINSIC
S_TKc 72 369 8.75e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123241
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128937
Predicted Effect probably benign
Transcript: ENSMUST00000136743
AA Change: V76I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117567
Gene: ENSMUSG00000035027
AA Change: V76I

DomainStartEndE-ValueType
Pfam:Pkinase 1 85 5.8e-14 PFAM
Pfam:Pkinase_Tyr 1 85 6.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143517
AA Change: V173I

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121111
Gene: ENSMUSG00000035027
AA Change: V173I

DomainStartEndE-ValueType
low complexity region 36 52 N/A INTRINSIC
S_TKc 72 370 1.24e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220329
Coding Region Coverage
Validation Efficiency
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 is known to play a critical role in mitogen growth factor signal transduction. It phosphorylates and thus activates MAPK1/ERK2 and MAPK2/ERK3. The activation of this kinase itself is dependent on the Ser/Thr phosphorylation by MAP kinase kinase kinases. Mutations in this gene cause cardiofaciocutaneous syndrome (CFC syndrome), a disease characterized by heart defects, mental retardation, and distinctive facial features similar to those found in Noonan syndrome. The inhibition or degradation of this kinase is also found to be involved in the pathogenesis of Yersinia and anthrax. A pseudogene, which is located on chromosome 7, has been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are viable, fertile, and apparently normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T G 8: 111,766,932 (GRCm39) S105A probably damaging Het
Adamtsl1 C T 4: 86,075,041 (GRCm39) P136L probably damaging Het
Akap13 C A 7: 75,327,195 (GRCm39) N376K probably damaging Het
Casp2 T A 6: 42,246,219 (GRCm39) Y192* probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cyp2c68 A G 19: 39,727,949 (GRCm39) Y68H possibly damaging Het
Cyp2j9 A T 4: 96,474,167 (GRCm39) I91K possibly damaging Het
Diablo T C 5: 123,650,751 (GRCm39) I179M probably benign Het
Dnah9 C T 11: 65,880,768 (GRCm39) V2610M probably damaging Het
Dsc2 C T 18: 20,168,372 (GRCm39) A696T probably damaging Het
Eaf2 A T 16: 36,621,038 (GRCm39) M218K probably benign Het
Emc9 G T 14: 55,822,377 (GRCm39) L64I possibly damaging Het
Epb41l2 T C 10: 25,317,620 (GRCm39) S46P probably benign Het
Galnt7 A T 8: 57,993,105 (GRCm39) Y405* probably null Het
Gnl3 A G 14: 30,734,753 (GRCm39) probably benign Het
Map1a A G 2: 121,132,757 (GRCm39) Q1191R possibly damaging Het
Nbeal2 A G 9: 110,455,971 (GRCm39) V2408A probably benign Het
Npepps T C 11: 97,126,884 (GRCm39) probably benign Het
Osbpl8 A T 10: 111,108,181 (GRCm39) probably benign Het
Phf12 G T 11: 77,906,332 (GRCm39) R282L probably damaging Het
Phf21a T G 2: 92,174,881 (GRCm39) probably benign Het
Plin2 T C 4: 86,582,683 (GRCm39) N98D possibly damaging Het
Prl7a1 A G 13: 27,824,778 (GRCm39) V19A probably damaging Het
Slfn10-ps T C 11: 82,926,085 (GRCm39) noncoding transcript Het
Spag11b T G 8: 19,191,423 (GRCm39) V33G possibly damaging Het
Trappc13 A T 13: 104,281,016 (GRCm39) S349T probably benign Het
Trim34a T C 7: 103,910,140 (GRCm39) probably null Het
Other mutations in Map2k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Map2k2 APN 10 80,956,907 (GRCm39) missense probably damaging 0.99
IGL00825:Map2k2 APN 10 80,954,052 (GRCm39) missense probably benign 0.12
R0972:Map2k2 UTSW 10 80,955,482 (GRCm39) missense probably benign 0.00
R1772:Map2k2 UTSW 10 80,956,934 (GRCm39) missense probably damaging 1.00
R2202:Map2k2 UTSW 10 80,955,213 (GRCm39) missense probably damaging 0.98
R2203:Map2k2 UTSW 10 80,955,213 (GRCm39) missense probably damaging 0.98
R4010:Map2k2 UTSW 10 80,944,769 (GRCm39) missense probably damaging 1.00
R4876:Map2k2 UTSW 10 80,950,947 (GRCm39) missense probably damaging 1.00
R6905:Map2k2 UTSW 10 80,944,701 (GRCm39) missense probably damaging 1.00
R7073:Map2k2 UTSW 10 80,942,017 (GRCm39) missense probably benign
R7741:Map2k2 UTSW 10 80,956,877 (GRCm39) missense probably benign
R7832:Map2k2 UTSW 10 80,954,040 (GRCm39) missense possibly damaging 0.80
R7960:Map2k2 UTSW 10 80,954,968 (GRCm39) missense probably benign 0.09
R8052:Map2k2 UTSW 10 80,950,900 (GRCm39) missense probably damaging 1.00
R8172:Map2k2 UTSW 10 80,959,442 (GRCm39) splice site probably null
R8544:Map2k2 UTSW 10 80,955,376 (GRCm39) missense possibly damaging 0.94
R8851:Map2k2 UTSW 10 80,955,097 (GRCm39) missense probably damaging 1.00
R9021:Map2k2 UTSW 10 80,955,159 (GRCm39) missense probably damaging 0.98
R9047:Map2k2 UTSW 10 80,955,498 (GRCm39) missense probably benign
R9224:Map2k2 UTSW 10 80,954,008 (GRCm39) missense possibly damaging 0.74
R9226:Map2k2 UTSW 10 80,955,193 (GRCm39) missense possibly damaging 0.93
RF004:Map2k2 UTSW 10 80,951,002 (GRCm39) missense probably benign 0.35
Posted On 2015-04-16