Incidental Mutation 'IGL02643:Mknk2'
ID 301842
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02643
Quality Score
Chromosome 10
Chromosomal Location 80665327-80678112 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 80668601 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 289 (L289R)
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: L242R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190
AA Change: L242R

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: L289R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: L289R

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T G 5: 121,631,570 M608L probably benign Het
Adamts2 A T 11: 50,788,700 M836L probably benign Het
Ankrd11 A T 8: 122,892,322 M1597K probably damaging Het
Arhgef17 A T 7: 100,883,882 F1145L possibly damaging Het
Atp13a3 A T 16: 30,333,796 W32R probably null Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Bod1l T A 5: 41,818,805 E1722V possibly damaging Het
Ceacam16 A G 7: 19,861,161 probably benign Het
Col14a1 T A 15: 55,420,862 Y840N unknown Het
Dlg5 A G 14: 24,191,182 C132R probably damaging Het
Dock4 T A 12: 40,668,430 N242K probably damaging Het
Dsg3 G A 18: 20,528,955 V426I probably benign Het
Dync1h1 T C 12: 110,659,272 probably benign Het
Flvcr2 T A 12: 85,796,223 M357K possibly damaging Het
Gapvd1 A G 2: 34,704,180 S932P probably damaging Het
Gata4 T A 14: 63,204,755 D205V possibly damaging Het
Gm5244 T C 19: 12,846,936 noncoding transcript Het
Kcnk2 T A 1: 189,258,779 I195L possibly damaging Het
Krt1 T C 15: 101,847,044 I427V probably benign Het
Mapk1ip1l T A 14: 47,310,882 H162Q possibly damaging Het
Micu1 A G 10: 59,839,736 D380G probably damaging Het
Myo18a A T 11: 77,778,172 N286I possibly damaging Het
Olfr291 A T 7: 84,857,031 I221F probably damaging Het
Pdp1 C T 4: 11,962,062 R83H probably benign Het
Ptafr A C 4: 132,580,126 I276L probably benign Het
Rab3gap2 A T 1: 185,267,000 D968V possibly damaging Het
Samd8 T A 14: 21,793,144 M447K probably damaging Het
Six5 G T 7: 19,097,530 V649L probably benign Het
Slc1a2 T A 2: 102,739,880 F168I probably benign Het
Slc1a7 G A 4: 108,012,300 V521M possibly damaging Het
Soga1 A G 2: 157,040,743 V463A probably damaging Het
Sorbs1 T C 19: 40,365,133 D206G possibly damaging Het
Stim2 T C 5: 54,110,613 V417A probably damaging Het
Tbx20 A G 9: 24,773,713 probably benign Het
Tia1 A G 6: 86,416,390 I71V probably benign Het
Ttc7 T C 17: 87,340,899 S509P possibly damaging Het
Ttpal A G 2: 163,607,220 probably benign Het
Tubgcp2 A T 7: 139,996,154 N865K probably damaging Het
Wdr45 G T X: 7,727,049 E62* probably null Het
Zfp507 A G 7: 35,795,231 F129S probably damaging Het
Zfp518b T A 5: 38,674,155 H169L probably damaging Het
Other mutations in Mknk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01468:Mknk2 APN 10 80667664 splice site probably benign
IGL02471:Mknk2 APN 10 80668121 missense probably damaging 0.99
H8562:Mknk2 UTSW 10 80668934 splice site probably benign
IGL03052:Mknk2 UTSW 10 80669662 missense probably benign 0.12
R0645:Mknk2 UTSW 10 80671908 splice site probably null
R2061:Mknk2 UTSW 10 80671557 critical splice donor site probably null
R2105:Mknk2 UTSW 10 80668601 missense possibly damaging 0.90
R2167:Mknk2 UTSW 10 80668701 missense probably damaging 1.00
R3847:Mknk2 UTSW 10 80667975 nonsense probably null
R4649:Mknk2 UTSW 10 80669339 missense probably damaging 1.00
R5062:Mknk2 UTSW 10 80671769 missense probably damaging 1.00
R5358:Mknk2 UTSW 10 80671763 missense probably benign 0.19
R5433:Mknk2 UTSW 10 80667225 missense probably benign 0.00
R5518:Mknk2 UTSW 10 80668641 missense possibly damaging 0.92
R5813:Mknk2 UTSW 10 80675862 missense probably benign 0.34
R6060:Mknk2 UTSW 10 80671634 missense probably benign 0.00
R6151:Mknk2 UTSW 10 80669025 splice site probably null
R6366:Mknk2 UTSW 10 80671933 missense probably damaging 0.99
R7640:Mknk2 UTSW 10 80668566 missense probably benign 0.00
R7827:Mknk2 UTSW 10 80667187 missense probably benign 0.03
R7943:Mknk2 UTSW 10 80675867 missense probably benign 0.00
R8075:Mknk2 UTSW 10 80672148 intron probably benign
R9114:Mknk2 UTSW 10 80668989 missense probably damaging 1.00
R9140:Mknk2 UTSW 10 80671593 missense probably benign 0.22
R9451:Mknk2 UTSW 10 80669662 missense probably benign 0.12
R9506:Mknk2 UTSW 10 80668084 missense probably benign 0.00
Posted On 2015-04-16