Incidental Mutation 'IGL02471:Mknk2'
ID 294724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mknk2
Ensembl Gene ENSMUSG00000020190
Gene Name MAP kinase-interacting serine/threonine kinase 2
Synonyms Mnk2, 2010016G11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02471
Quality Score
Chromosome 10
Chromosomal Location 80501152-80512264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80503955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 319 (F319I)
Ref Sequence ENSEMBL: ENSMUSP00000143508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003433] [ENSMUST00000197276] [ENSMUST00000198819] [ENSMUST00000199949] [ENSMUST00000200082]
AlphaFold Q8CDB0
Predicted Effect probably damaging
Transcript: ENSMUST00000003433
AA Change: F272I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190
AA Change: F272I

low complexity region 13 23 N/A INTRINSIC
S_TKc 36 321 7.09e-88 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197276
SMART Domains Protein: ENSMUSP00000143679
Gene: ENSMUSG00000020190

SCOP:d1koba_ 52 118 3e-11 SMART
PDB:2AC3|A 59 118 3e-32 PDB
Blast:S_TKc 71 118 1e-24 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000198819
Predicted Effect probably benign
Transcript: ENSMUST00000199949
Predicted Effect probably damaging
Transcript: ENSMUST00000200082
AA Change: F319I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: F319I

low complexity region 60 70 N/A INTRINSIC
S_TKc 83 368 7.09e-88 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a serine/threonine-protein kinase, which is targeted by both the extracellular signal-regulated kinase and p38 mitogen-activated protein kinase pathways. This enzyme targets several substrates including eukaryotic translation initiation factor 4E and mammalian target of rapamycin, which are negatively regulated by its phosphorylation. Null mutant mice do not exhibit developmental or reproductive defects. However, mice null for both this protein and mitogen-activated protein kinase-interacting serine/threonine protein kinase 1 have delayed tumor development in phosphatase and tensin homolog mutant mice, indicating an oncogenic function for this gene in tumor development. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygous null mice are viable and fertile with no gross abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,297,357 (GRCm39) H2378N probably benign Het
Btaf1 C A 19: 36,977,592 (GRCm39) A1470E probably damaging Het
Ccdc110 A G 8: 46,394,793 (GRCm39) D228G probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cldn18 T C 9: 99,578,128 (GRCm39) D205G probably benign Het
Clip2 T C 5: 134,546,876 (GRCm39) T231A probably benign Het
Cltc A G 11: 86,608,860 (GRCm39) V723A probably damaging Het
Cpa3 C T 3: 20,282,971 (GRCm39) probably null Het
Cyfip2 T G 11: 46,091,630 (GRCm39) T1097P possibly damaging Het
Dnah9 T A 11: 65,838,444 (GRCm39) R667* probably null Het
Dock10 T C 1: 80,493,339 (GRCm39) E1878G probably damaging Het
Ermap G A 4: 119,037,160 (GRCm39) H353Y probably damaging Het
Etfa A T 9: 55,393,984 (GRCm39) probably null Het
F5 C T 1: 164,001,860 (GRCm39) P188S probably damaging Het
Foxq1 G A 13: 31,743,326 (GRCm39) E143K possibly damaging Het
Gsr C T 8: 34,172,612 (GRCm39) probably benign Het
Hebp1 T A 6: 135,132,274 (GRCm39) Y31F probably benign Het
Ighv1-14 T C 12: 114,610,457 (GRCm39) noncoding transcript Het
Lamb1 T A 12: 31,370,907 (GRCm39) D1319E probably damaging Het
Lrp5 A T 19: 3,652,408 (GRCm39) V1154E probably benign Het
Manba G A 3: 135,212,769 (GRCm39) probably benign Het
Mup6 A T 4: 60,003,971 (GRCm39) probably benign Het
Nalcn T C 14: 123,560,726 (GRCm39) T784A probably benign Het
Nt5dc1 T C 10: 34,279,721 (GRCm39) E107G probably benign Het
Or11h6 A T 14: 50,880,214 (GRCm39) I159F probably benign Het
Or56b34 T A 7: 104,938,252 (GRCm39) F317L probably benign Het
Or9q2 G A 19: 13,772,589 (GRCm39) P129S probably damaging Het
Phldb1 T C 9: 44,622,530 (GRCm39) E41G probably damaging Het
Ptk2 T C 15: 73,170,036 (GRCm39) D309G probably benign Het
Rab11fip5 A G 6: 85,325,207 (GRCm39) S367P probably damaging Het
Rb1cc1 T A 1: 6,310,275 (GRCm39) N224K probably benign Het
Rchy1 A T 5: 92,105,405 (GRCm39) C65* probably null Het
Rgs18 T C 1: 144,650,359 (GRCm39) D56G probably benign Het
Rtraf A C 14: 19,862,296 (GRCm39) L197R probably damaging Het
Slc44a5 G T 3: 153,962,213 (GRCm39) W382L probably damaging Het
Snx24 C T 18: 53,518,241 (GRCm39) probably benign Het
Sphkap T C 1: 83,253,897 (GRCm39) D1284G probably damaging Het
Tmem54 A G 4: 129,002,111 (GRCm39) M53V probably benign Het
Trip6 G A 5: 137,308,618 (GRCm39) P414S probably benign Het
Vmn1r38 A G 6: 66,753,751 (GRCm39) Y122H probably benign Het
Wapl T A 14: 34,413,877 (GRCm39) N246K possibly damaging Het
Zfp12 G A 5: 143,230,551 (GRCm39) G293R probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp446 T G 7: 12,716,181 (GRCm39) V209G probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Mknk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01468:Mknk2 APN 10 80,503,498 (GRCm39) splice site probably benign
IGL02643:Mknk2 APN 10 80,504,435 (GRCm39) missense probably damaging 1.00
H8562:Mknk2 UTSW 10 80,504,768 (GRCm39) splice site probably benign
IGL03052:Mknk2 UTSW 10 80,505,496 (GRCm39) missense probably benign 0.12
R0645:Mknk2 UTSW 10 80,507,742 (GRCm39) splice site probably null
R2061:Mknk2 UTSW 10 80,507,391 (GRCm39) critical splice donor site probably null
R2105:Mknk2 UTSW 10 80,504,435 (GRCm39) missense possibly damaging 0.90
R2167:Mknk2 UTSW 10 80,504,535 (GRCm39) missense probably damaging 1.00
R3847:Mknk2 UTSW 10 80,503,809 (GRCm39) nonsense probably null
R4649:Mknk2 UTSW 10 80,505,173 (GRCm39) missense probably damaging 1.00
R5062:Mknk2 UTSW 10 80,507,603 (GRCm39) missense probably damaging 1.00
R5358:Mknk2 UTSW 10 80,507,597 (GRCm39) missense probably benign 0.19
R5433:Mknk2 UTSW 10 80,503,059 (GRCm39) missense probably benign 0.00
R5518:Mknk2 UTSW 10 80,504,475 (GRCm39) missense possibly damaging 0.92
R5813:Mknk2 UTSW 10 80,511,696 (GRCm39) missense probably benign 0.34
R6060:Mknk2 UTSW 10 80,507,468 (GRCm39) missense probably benign 0.00
R6151:Mknk2 UTSW 10 80,504,859 (GRCm39) splice site probably null
R6366:Mknk2 UTSW 10 80,507,767 (GRCm39) missense probably damaging 0.99
R7640:Mknk2 UTSW 10 80,504,400 (GRCm39) missense probably benign 0.00
R7827:Mknk2 UTSW 10 80,503,021 (GRCm39) missense probably benign 0.03
R7943:Mknk2 UTSW 10 80,511,701 (GRCm39) missense probably benign 0.00
R8075:Mknk2 UTSW 10 80,507,982 (GRCm39) intron probably benign
R9114:Mknk2 UTSW 10 80,504,823 (GRCm39) missense probably damaging 1.00
R9140:Mknk2 UTSW 10 80,507,427 (GRCm39) missense probably benign 0.22
R9451:Mknk2 UTSW 10 80,505,496 (GRCm39) missense probably benign 0.12
R9506:Mknk2 UTSW 10 80,503,918 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16