Incidental Mutation 'R5062:Mknk2'
ID 386699
Institutional Source Beutler Lab
Gene Symbol Mknk2
Ensembl Gene ENSMUSG00000020190
Gene Name MAP kinase-interacting serine/threonine kinase 2
Synonyms Mnk2, 2010016G11Rik
MMRRC Submission 042652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5062 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 80501152-80512264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80507603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 58 (R58W)
Ref Sequence ENSEMBL: ENSMUSP00000143679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003433] [ENSMUST00000197276] [ENSMUST00000198819] [ENSMUST00000199949] [ENSMUST00000200082]
AlphaFold Q8CDB0
Predicted Effect probably damaging
Transcript: ENSMUST00000003433
AA Change: R23W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190
AA Change: R23W

low complexity region 13 23 N/A INTRINSIC
S_TKc 36 321 7.09e-88 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197276
AA Change: R58W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143679
Gene: ENSMUSG00000020190
AA Change: R58W

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 damaging
Transcript: ENSMUST00000198819
AA Change: R23W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000199949
Predicted Effect probably damaging
Transcript: ENSMUST00000200082
AA Change: R70W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: R70W

low complexity region 60 70 N/A INTRINSIC
S_TKc 83 368 7.09e-88 SMART
Meta Mutation Damage Score 0.2024 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.7%
  • 20x: 90.1%
Validation Efficiency 100% (79/79)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,067,892 (GRCm39) I1593N probably benign Het
Akr1b10 G T 6: 34,369,041 (GRCm39) K173N probably damaging Het
Artn A T 4: 117,784,873 (GRCm39) L3Q probably damaging Het
Asxl3 T A 18: 22,655,775 (GRCm39) S1262T possibly damaging Het
Atp6v0a4 A T 6: 38,051,118 (GRCm39) M420K probably benign Het
Bcam T A 7: 19,494,026 (GRCm39) T422S possibly damaging Het
Casp2 C T 6: 42,246,206 (GRCm39) probably benign Het
Ccdc137 A G 11: 120,353,341 (GRCm39) probably benign Het
Cd177 C A 7: 24,443,741 (GRCm39) A786S probably benign Het
Cdca4 T C 12: 112,785,483 (GRCm39) N82D probably benign Het
Clu A C 14: 66,217,177 (GRCm39) T337P probably damaging Het
Col6a3 A C 1: 90,707,074 (GRCm39) I2013S unknown Het
Cpne9 T A 6: 113,281,449 (GRCm39) M510K probably damaging Het
Cyp3a13 A C 5: 137,897,161 (GRCm39) N384K possibly damaging Het
Fam186a A C 15: 99,842,527 (GRCm39) I1239S possibly damaging Het
Fryl T C 5: 73,233,236 (GRCm39) E413G possibly damaging Het
Fscn2 A C 11: 120,257,575 (GRCm39) Y312S probably damaging Het
Fshr A T 17: 89,293,474 (GRCm39) C401* probably null Het
Glyat A C 19: 12,627,627 (GRCm39) Q74P probably damaging Het
Gm6158 A T 14: 24,120,158 (GRCm39) noncoding transcript Het
Grm7 A G 6: 110,623,097 (GRCm39) N90S probably damaging Het
Hectd1 A T 12: 51,791,662 (GRCm39) C2536S probably damaging Het
Herc3 C T 6: 58,832,745 (GRCm39) Q137* probably null Het
Kctd3 A C 1: 188,727,890 (GRCm39) probably benign Het
Klhl30 A G 1: 91,283,300 (GRCm39) T301A probably benign Het
Klra9 T C 6: 130,156,072 (GRCm39) K228E possibly damaging Het
Lamc3 A T 2: 31,795,679 (GRCm39) T355S possibly damaging Het
Lcmt1 A C 7: 123,010,053 (GRCm39) probably null Het
Limch1 C T 5: 67,126,578 (GRCm39) P60S probably damaging Het
Lrfn2 A G 17: 49,377,528 (GRCm39) D203G probably damaging Het
Mc5r T C 18: 68,472,352 (GRCm39) L237P probably damaging Het
Mrgpra2b T C 7: 47,152,676 (GRCm39) probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Nae1 A T 8: 105,243,334 (GRCm39) C395S possibly damaging Het
Ncoa1 A G 12: 4,309,333 (GRCm39) M1321T probably damaging Het
Neb A C 2: 52,170,513 (GRCm39) F1720V possibly damaging Het
Nectin2 C T 7: 19,472,198 (GRCm39) V64I probably benign Het
Nisch T A 14: 30,894,397 (GRCm39) T1145S probably damaging Het
Nlrp5 A T 7: 23,135,335 (GRCm39) R1009* probably null Het
Or12d13 A T 17: 37,647,822 (GRCm39) H100Q probably damaging Het
Or4k15 T A 14: 50,364,894 (GRCm39) Y287N probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pak1ip1 A G 13: 41,161,621 (GRCm39) probably benign Het
Pcm1 T C 8: 41,712,297 (GRCm39) V189A probably damaging Het
Peak1 G T 9: 56,167,573 (GRCm39) N118K probably damaging Het
Phgdh T A 3: 98,235,655 (GRCm39) I121F probably damaging Het
Pi4ka G T 16: 17,127,261 (GRCm39) A1064E probably benign Het
Pkhd1 A C 1: 20,655,935 (GRCm39) C199W probably benign Het
Plat A G 8: 23,262,327 (GRCm39) D117G probably benign Het
Ppp2r2b C A 18: 42,821,526 (GRCm39) V211L possibly damaging Het
Ptgs1 A G 2: 36,127,294 (GRCm39) D60G probably damaging Het
Ryr2 T C 13: 11,715,240 (GRCm39) E2776G probably damaging Het
Sema4c C T 1: 36,592,059 (GRCm39) probably null Het
Sharpin T C 15: 76,231,811 (GRCm39) probably benign Het
Slamf6 A G 1: 171,764,100 (GRCm39) I164M possibly damaging Het
Slco1a7 A C 6: 141,713,180 (GRCm39) M67R possibly damaging Het
Spef1 A G 2: 131,015,201 (GRCm39) Y46H probably damaging Het
Spns1 G A 7: 125,973,501 (GRCm39) probably benign Het
Supt5 C T 7: 28,028,440 (GRCm39) probably null Het
Tbx5 T A 5: 119,974,987 (GRCm39) D3E probably damaging Het
Thbs1 T C 2: 117,951,718 (GRCm39) probably null Het
Tmem140 G A 6: 34,849,897 (GRCm39) V138M probably damaging Het
Tmem200a T A 10: 25,869,813 (GRCm39) D152V probably damaging Het
Tmem200b A G 4: 131,649,848 (GRCm39) D256G probably damaging Het
Tns1 A T 1: 73,992,023 (GRCm39) L885Q probably damaging Het
Umod G A 7: 119,071,644 (GRCm39) Q366* probably null Het
Vsir A G 10: 60,200,042 (GRCm39) I208V probably damaging Het
Zfp646 G A 7: 127,479,671 (GRCm39) R616H probably damaging Het
Other mutations in Mknk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01468:Mknk2 APN 10 80,503,498 (GRCm39) splice site probably benign
IGL02471:Mknk2 APN 10 80,503,955 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-06-06