Incidental Mutation 'IGL03052:Mknk2'
ID 392191
Institutional Source Beutler Lab
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 # IGL03052 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 80501152-80512264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80505496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 154 (R154H)
Ref Sequence ENSEMBL: ENSMUSP00000143508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003433] [ENSMUST00000197276] [ENSMUST00000198819] [ENSMUST00000199949] [ENSMUST00000200082]
AlphaFold Q8CDB0
Predicted Effect probably benign
Transcript: ENSMUST00000003433
AA Change: R107H

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190
AA Change: R107H

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000200082
AA Change: R154H

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: R154H

DomainStartEndE-ValueType
low complexity region 60 70 N/A INTRINSIC
S_TKc 83 368 7.09e-88 SMART
Meta Mutation Damage Score 0.1903 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (53/53)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 T C 4: 155,987,815 (GRCm39) F517S probably damaging Het
Afap1l1 A G 18: 61,881,894 (GRCm39) V267A probably benign Het
Asap1 A G 15: 64,025,683 (GRCm39) probably benign Het
Bcl6 T C 16: 23,793,788 (GRCm39) probably benign Het
Ccdc73 C A 2: 104,782,281 (GRCm39) H212Q possibly damaging Het
Cct5 A T 15: 31,597,633 (GRCm39) H85Q probably damaging Het
Cfap69 A C 5: 5,639,206 (GRCm39) L238R probably damaging Het
Chl1 A T 6: 103,668,628 (GRCm39) T470S probably benign Het
Cnga4 T C 7: 105,053,932 (GRCm39) S12P probably benign Het
Cyp2c29 C T 19: 39,275,662 (GRCm39) T34M possibly damaging Het
Cyp2c67 T C 19: 39,637,329 (GRCm39) D49G possibly damaging Het
Dab2ip A G 2: 35,533,909 (GRCm39) Q45R probably benign Het
Ddhd1 A G 14: 45,858,240 (GRCm39) V164A probably damaging Het
Dnaaf8 A T 16: 4,795,358 (GRCm39) noncoding transcript Het
Dnah7c A G 1: 46,671,309 (GRCm39) Y1566C probably damaging Het
Dnase1l2 T C 17: 24,659,968 (GRCm39) probably benign Het
Dock2 G T 11: 34,182,853 (GRCm39) N1593K probably benign Het
Dpp6 G T 5: 27,914,506 (GRCm39) M530I probably benign Het
Epm2a T C 10: 11,332,974 (GRCm39) V269A possibly damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fgf2 A G 3: 37,403,161 (GRCm39) S55G probably benign Het
Frem3 C T 8: 81,341,159 (GRCm39) P1151S probably damaging Het
Gm15737 T C 6: 92,846,481 (GRCm39) probably benign Het
Gpi-ps T A 8: 5,689,816 (GRCm39) noncoding transcript Het
Gvin-ps6 T C 7: 106,022,902 (GRCm39) noncoding transcript Het
Hoxa3 G A 6: 52,147,267 (GRCm39) probably benign Het
Larp7-ps A G 4: 92,079,287 (GRCm39) L178P probably benign Het
Macf1 T C 4: 123,281,188 (GRCm39) I3770V probably damaging Het
Mapk15 G T 15: 75,865,731 (GRCm39) R8L probably benign Het
Mecom C T 3: 30,015,112 (GRCm39) probably benign Het
Mrgprb3 A T 7: 48,293,341 (GRCm39) V70E possibly damaging Het
Mtdh A G 15: 34,140,876 (GRCm39) K570E possibly damaging Het
Myo5c G T 9: 75,159,798 (GRCm39) probably benign Het
Myom2 T C 8: 15,173,442 (GRCm39) probably benign Het
Or52m2 C T 7: 102,263,656 (GRCm39) R180Q probably benign Het
Or5b124 T C 19: 13,611,090 (GRCm39) I205T probably benign Het
Or7g25 A T 9: 19,159,938 (GRCm39) Y252* probably null Het
Pcca A T 14: 123,124,513 (GRCm39) M695L probably benign Het
Pcdha2 A T 18: 37,074,670 (GRCm39) D767V probably damaging Het
Plekhs1 G A 19: 56,459,189 (GRCm39) D16N probably benign Het
Prr11 T C 11: 86,994,478 (GRCm39) N56S possibly damaging Het
Rxfp2 A T 5: 149,966,645 (GRCm39) probably benign Het
Sacs G T 14: 61,445,307 (GRCm39) G2451V probably damaging Het
Scarb1 G A 5: 125,371,163 (GRCm39) A4V probably damaging Het
Scart2 G A 7: 139,828,827 (GRCm39) C162Y probably damaging Het
Sik3 C A 9: 46,109,447 (GRCm39) T475K probably damaging Het
Slco1b2 A T 6: 141,594,311 (GRCm39) I59L probably benign Het
Sspo G A 6: 48,437,387 (GRCm39) G1382R probably damaging Het
Stx16 C A 2: 173,934,231 (GRCm39) P145T probably benign Het
Tnrc18 G A 5: 142,760,974 (GRCm39) A674V unknown Het
Uqcrq A G 11: 53,321,476 (GRCm39) V14A possibly damaging Het
Vmn2r79 A T 7: 86,652,799 (GRCm39) E497V probably benign Het
Vps8 T A 16: 21,267,115 (GRCm39) I166K probably damaging Het
Vwa8 A G 14: 79,302,361 (GRCm39) D1010G probably benign Het
Wnk1 T A 6: 119,921,760 (GRCm39) probably benign Het
Zfand3 T A 17: 30,279,798 (GRCm39) M29K probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CTTCCTTGGGTCCAATACTGG -3'
(R):5'- ATAGGTAAGGTGGCCTGCCTAG -3'

Sequencing Primer
(F):5'- TCCAATACTGGGCCGTGG -3'
(R):5'- GAGCCCATCACTTCAGCAGG -3'
Posted On 2016-06-09