Incidental Mutation 'R9047:Map2k2'
ID 688131
Institutional Source Beutler Lab
Gene Symbol Map2k2
Ensembl Gene ENSMUSG00000035027
Gene Name mitogen-activated protein kinase kinase 2
Synonyms MEK2, Prkmk2, MAP kinase/Erk kinase
MMRRC Submission 068873-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9047 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80941749-80960531 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80955498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 294 (V294I)
Ref Sequence ENSEMBL: ENSMUSP00000121111 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048223] [ENSMUST00000105331] [ENSMUST00000136743] [ENSMUST00000143517] [ENSMUST00000220329]
AlphaFold Q63932
Predicted Effect probably benign
Transcript: ENSMUST00000048223
SMART Domains Protein: ENSMUSP00000137918
Gene: ENSMUSG00000035027

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: V294I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100968
Gene: ENSMUSG00000035027
AA Change: V294I

low complexity region 36 52 N/A INTRINSIC
S_TKc 72 369 8.75e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000136743
SMART Domains Protein: ENSMUSP00000117567
Gene: ENSMUSG00000035027

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: V294I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121111
Gene: ENSMUSG00000035027
AA Change: V294I

low complexity region 36 52 N/A INTRINSIC
S_TKc 72 370 1.24e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220329
AA Change: V73I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (76/76)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik T A 3: 145,644,848 (GRCm39) S156T probably damaging Het
4930522L14Rik A G 5: 109,885,420 (GRCm39) L146P Het
Adra1a T A 14: 66,875,634 (GRCm39) M203K probably damaging Het
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Akt3 G T 1: 176,886,955 (GRCm39) T298K probably damaging Het
Aldh4a1 G T 4: 139,350,511 (GRCm39) probably benign Het
Aplf T C 6: 87,640,779 (GRCm39) T77A possibly damaging Het
Arid4b T A 13: 14,355,815 (GRCm39) W618R probably damaging Het
Asxl3 C A 18: 22,585,465 (GRCm39) P130Q probably damaging Het
Asxl3 A G 18: 22,585,471 (GRCm39) K132R probably damaging Het
Atp11a T C 8: 12,878,483 (GRCm39) M353T probably damaging Het
Atp11b A G 3: 35,861,038 (GRCm39) D375G probably damaging Het
Cage1 C T 13: 38,201,338 (GRCm39) A656T possibly damaging Het
Casz1 C T 4: 149,023,497 (GRCm39) P801S probably damaging Het
Cdc14b A T 13: 64,368,758 (GRCm39) probably benign Het
Cdin1 A G 2: 115,607,504 (GRCm39) T286A probably benign Het
Cox6b2 A G 7: 4,755,086 (GRCm39) F63L probably benign Het
Cramp1 A C 17: 25,198,603 (GRCm39) V773G possibly damaging Het
Cul7 A G 17: 46,965,448 (GRCm39) E542G probably benign Het
Cyp2c55 T C 19: 39,019,790 (GRCm39) Y243H possibly damaging Het
Dnah9 C A 11: 65,962,925 (GRCm39) D1797Y possibly damaging Het
Dpep2 C A 8: 106,715,944 (GRCm39) A298S Het
Dvl3 G A 16: 20,342,826 (GRCm39) probably null Het
Dynlt2a3 A G 17: 15,187,942 (GRCm39) Y111H probably damaging Het
Enpp3 T C 10: 24,674,172 (GRCm39) D376G possibly damaging Het
Ffar4 T C 19: 38,102,232 (GRCm39) I289T possibly damaging Het
Gm5565 T C 5: 146,094,849 (GRCm39) Y299C probably damaging Het
Gm57858 A G 3: 36,087,033 (GRCm39) I187T probably benign Het
Gpat3 A T 5: 100,994,788 (GRCm39) M39L probably benign Het
Gpr153 T C 4: 152,364,664 (GRCm39) L240P probably damaging Het
Gpr182 T C 10: 127,586,517 (GRCm39) I145V probably benign Het
H2-Q4 A T 17: 35,598,969 (GRCm39) T80S possibly damaging Het
Hnf1a T A 5: 115,088,882 (GRCm39) T545S probably benign Het
Kif5b A C 18: 6,208,261 (GRCm39) F946V probably benign Het
Krtap16-1 C T 11: 99,877,167 (GRCm39) C79Y probably damaging Het
Lama2 A G 10: 26,882,697 (GRCm39) V2622A possibly damaging Het
Lrrc37a T A 11: 103,391,375 (GRCm39) Q1350L probably damaging Het
Meak7 T C 8: 120,489,050 (GRCm39) N411S probably benign Het
Mtus1 G A 8: 41,536,760 (GRCm39) H319Y possibly damaging Het
Ncdn T C 4: 126,644,621 (GRCm39) D67G possibly damaging Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nlrp9b A G 7: 19,757,401 (GRCm39) I213V possibly damaging Het
Nyap2 G A 1: 81,275,803 (GRCm39) R649H possibly damaging Het
Or14a258 A G 7: 86,035,248 (GRCm39) S207P probably benign Het
Or4a67 C A 2: 88,598,299 (GRCm39) R120L probably damaging Het
Or5d20-ps1 T G 2: 87,931,416 (GRCm39) D305A unknown Het
Pi4kb T A 3: 94,900,428 (GRCm39) L354Q probably damaging Het
Plekhh2 T C 17: 84,898,190 (GRCm39) S944P probably damaging Het
Podn C T 4: 107,878,743 (GRCm39) V375M probably damaging Het
Pramel12 C A 4: 143,145,673 (GRCm39) Q381K possibly damaging Het
Psmb2 T A 4: 126,599,895 (GRCm39) H110Q probably benign Het
Rasip1 A G 7: 45,282,066 (GRCm39) E523G possibly damaging Het
Ripor1 T G 8: 106,342,783 (GRCm39) C219G probably damaging Het
Rps6ka2 G C 17: 7,567,678 (GRCm39) V714L probably damaging Het
Sass6 G T 3: 116,407,647 (GRCm39) L254F probably damaging Het
Scarf2 G A 16: 17,624,270 (GRCm39) G525E probably damaging Het
Sh3d21 T A 4: 126,046,131 (GRCm39) probably benign Het
Sh3tc1 C A 5: 35,863,827 (GRCm39) A787S probably benign Het
Skint5 T A 4: 113,512,919 (GRCm39) N871I unknown Het
Slc48a1 T G 15: 97,687,833 (GRCm39) D62E probably damaging Het
Slc6a21 G A 7: 44,936,398 (GRCm39) M157I Het
Slurp2 T C 15: 74,614,961 (GRCm39) D60G probably benign Het
Sparcl1 G T 5: 104,240,979 (GRCm39) N148K possibly damaging Het
Spata31e4 C T 13: 50,856,128 (GRCm39) R589* probably null Het
Spsb2 T A 6: 124,786,976 (GRCm39) N236K probably benign Het
Sptb G T 12: 76,679,308 (GRCm39) probably benign Het
Ssc4d A T 5: 135,990,030 (GRCm39) C41S probably damaging Het
Tecta A T 9: 42,286,375 (GRCm39) D760E probably benign Het
Tesmin G T 19: 3,439,431 (GRCm39) probably benign Het
Tiam1 A C 16: 89,601,776 (GRCm39) probably benign Het
Tnrc6a T C 7: 122,778,946 (GRCm39) L1219S probably damaging Het
Tram1 T G 1: 13,639,830 (GRCm39) I306L probably benign Het
Trank1 A C 9: 111,191,500 (GRCm39) D503A probably damaging Het
Ttc21b T C 2: 66,031,596 (GRCm39) H1044R Het
Ubac2 T C 14: 122,145,626 (GRCm39) F95L probably benign Het
Vmn2r91 A T 17: 18,326,296 (GRCm39) M194L probably benign Het
Yju2b C T 8: 84,990,527 (GRCm39) R35Q probably damaging Het
Zdhhc1 G T 8: 106,205,533 (GRCm39) H90Q probably damaging Het
Zfp169 C T 13: 48,652,292 (GRCm39) V42I probably damaging Het
Zfp81 A G 17: 33,553,387 (GRCm39) C476R probably damaging 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
IGL00826: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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-11-19