Incidental Mutation 'R5433:Mknk2'
ID 428164
Institutional Source Beutler Lab
Gene Symbol Mknk2
Ensembl Gene ENSMUSG00000020190
Gene Name MAP kinase-interacting serine/threonine kinase 2
Synonyms Mnk2, 2010016G11Rik
MMRRC Submission 042998-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5433 (G1)
Quality Score 193
Status Validated
Chromosome 10
Chromosomal Location 80501152-80512264 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80503059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 421 (I421N)
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: I374N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190
AA Change: I374N

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: I421N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: I421N

DomainStartEndE-ValueType
low complexity region 60 70 N/A INTRINSIC
S_TKc 83 368 7.09e-88 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 100% (58/58)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,964,657 (GRCm39) S24G probably damaging Het
1810064F22Rik A G 9: 22,119,039 (GRCm39) noncoding transcript Het
Aacs A T 5: 125,592,078 (GRCm39) M589L probably benign Het
Adamts8 A C 9: 30,873,012 (GRCm39) H739P probably benign Het
Atp8b2 T C 3: 89,860,216 (GRCm39) probably benign Het
BC030500 A G 8: 59,366,043 (GRCm39) probably benign Het
Btnl9 T A 11: 49,066,830 (GRCm39) probably benign Het
Cd74 G T 18: 60,940,993 (GRCm39) A31S probably benign Het
Ceacam3 G A 7: 16,893,808 (GRCm39) A440T possibly damaging Het
Ces1d G A 8: 93,912,664 (GRCm39) T258I probably benign Het
Col10a1 A G 10: 34,266,735 (GRCm39) probably benign Het
Coro1b C T 19: 4,203,449 (GRCm39) A430V probably benign Het
Cyp2c65 A T 19: 39,081,928 (GRCm39) I485L probably benign Het
Dio1 A T 4: 107,163,977 (GRCm39) probably benign Het
Dmxl1 G A 18: 50,000,966 (GRCm39) probably null Het
Dynlt5 A G 4: 102,859,700 (GRCm39) E84G possibly damaging Het
Elp6 A G 9: 110,144,851 (GRCm39) Y136C probably damaging Het
Gon4l A T 3: 88,803,532 (GRCm39) Q1382L possibly damaging Het
Guca1a T C 17: 47,711,295 (GRCm39) E17G probably damaging Het
Gucy2d G A 7: 98,098,982 (GRCm39) G267E probably damaging Het
Gvin3 T A 7: 106,199,314 (GRCm39) noncoding transcript Het
Hspg2 T A 4: 137,256,105 (GRCm39) probably null Het
Il1a G T 2: 129,149,821 (GRCm39) D26E possibly damaging Het
Il22b T A 10: 118,130,789 (GRCm39) I36F probably damaging Het
Kcna1 A T 6: 126,620,075 (GRCm39) F82I probably damaging Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Lamtor5 T G 3: 107,189,323 (GRCm39) C120G probably benign Het
Lars1 A G 18: 42,384,363 (GRCm39) C72R possibly damaging Het
Lrrfip1 T G 1: 91,014,848 (GRCm39) probably null Het
Mapkapk3 T C 9: 107,133,491 (GRCm39) D349G probably damaging Het
Myh6 A G 14: 55,191,381 (GRCm39) I820T probably benign Het
Notch2 T G 3: 98,033,450 (GRCm39) V1182G probably damaging Het
Or1af1 T G 2: 37,109,684 (GRCm39) F61C probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2z2 C T 11: 58,346,680 (GRCm39) V32M probably damaging Het
Ppfia4 A T 1: 134,245,632 (GRCm39) S641T probably damaging Het
Prok1 T A 3: 107,146,949 (GRCm39) H6L probably benign Het
Ptprm A T 17: 67,000,468 (GRCm39) V1172E probably damaging Het
Rasal3 C T 17: 32,612,575 (GRCm39) R762Q probably benign Het
Rgs20 G T 1: 5,140,333 (GRCm39) A23E possibly damaging Het
Rprd1a T C 18: 24,640,288 (GRCm39) T163A probably benign Het
Rrm1 A T 7: 102,114,974 (GRCm39) N37I probably damaging Het
Shc4 T A 2: 125,481,350 (GRCm39) E520V probably damaging Het
Slc14a2 G T 18: 78,252,143 (GRCm39) P56Q probably damaging Het
Slc22a3 C T 17: 12,677,377 (GRCm39) G264S probably damaging Het
Svil A G 18: 5,059,294 (GRCm39) E770G probably damaging Het
Svop A G 5: 114,198,186 (GRCm39) V129A probably damaging Het
Szt2 A T 4: 118,232,663 (GRCm39) probably benign Het
Tcof1 T C 18: 60,951,105 (GRCm39) probably benign Het
Tmem30a T A 9: 79,687,930 (GRCm39) I80F probably damaging Het
Vmn2r16 G T 5: 109,511,708 (GRCm39) L638F probably damaging Het
Xkr7 T A 2: 152,896,244 (GRCm39) I366N probably damaging Het
Zer1 A G 2: 29,990,998 (GRCm39) 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
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
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'- CCGGGCACTTGCTTTCAATAG -3'
(R):5'- GACCCAACAGCACCAGTTTG -3'

Sequencing Primer
(F):5'- CACTTGCTTTCAATAGCGGCAAAG -3'
(R):5'- TCAGCTCCTGGAAGGGCTTAC -3'
Posted On 2016-09-01