Mutagenetix > Incidental Mutation

Incidental Mutation 'R5518:Mknk2'

431412

Institutional Source

Beutler Lab

Gene Symbol

Mknk2

Ensembl Gene

ENSMUSG00000020190

Gene Name

MAP kinase-interacting serine/threonine kinase 2

Synonyms

Mnk2, 2010016G11Rik

MMRRC Submission

043077-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5518 (G1)

Quality Score

116

Status

Validated

Chromosome

Chromosomal Location

80501152-80512264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80504475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 229 (C229S)

Ref Sequence

ENSEMBL: ENSMUSP00000003433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003433] [ENSMUST00000197276] [ENSMUST00000198819] [ENSMUST00000199949] [ENSMUST00000200082]

AlphaFold

Q8CDB0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003433
AA Change: C229S

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190
AA Change: C229S

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000200082
AA Change: C276S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: C276S

Domain	Start	End	E-Value	Type
low complexity region	60	70	N/A	INTRINSIC
S_TKc	83	368	7.09e-88	SMART

Meta Mutation Damage Score

0.9612

Coding Region Coverage

1x: 99.0%
3x: 97.4%
10x: 94.2%
20x: 86.3%

Validation Efficiency

100% (75/75)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	T	7: 45,769,873 (GRCm39)	E881K	probably benign	Het
Abcf1	C	T	17: 36,269,233 (GRCm39)	R675K	possibly damaging	Het
Abl1	T	A	2: 31,680,754 (GRCm39)	C349S	probably damaging	Het
Acot11	C	A	4: 106,607,207 (GRCm39)	V459L	probably benign	Het
Ank2	A	T	3: 126,753,348 (GRCm39)	V311D	probably damaging	Het
Ankrd11	C	G	8: 123,617,733 (GRCm39)	E2040Q	possibly damaging	Het
Ankrd26	T	C	6: 118,525,869 (GRCm39)	I359V	probably benign	Het
Armc3	T	G	2: 19,302,739 (GRCm39)	L684V	probably benign	Het
Asb10	G	A	5: 24,744,643 (GRCm39)	P184S	probably damaging	Het
Atp10b	T	C	11: 43,042,463 (GRCm39)	S8P	possibly damaging	Het
Blk	G	T	14: 63,615,956 (GRCm39)	S324R	possibly damaging	Het
C4b	G	C	17: 34,953,416 (GRCm39)	N1022K	probably benign	Het
Card6	G	T	15: 5,134,696 (GRCm39)	T169K	probably damaging	Het
Catsper2	T	C	2: 121,236,844 (GRCm39)	T268A	possibly damaging	Het
Cbx3	C	T	6: 51,458,726 (GRCm39)	P64S	probably benign	Het
Chchd6	A	G	6: 89,544,567 (GRCm39)		probably null	Het
Cntn1	G	A	15: 92,212,534 (GRCm39)	E899K	probably benign	Het
Col6a4	A	T	9: 105,949,387 (GRCm39)	S749R	possibly damaging	Het
Cpne3	T	G	4: 19,553,779 (GRCm39)	N84T	probably benign	Het
Dcxr	A	C	11: 120,617,025 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Emsy	T	C	7: 98,242,818 (GRCm39)	Q1107R	possibly damaging	Het
Erbb2	G	T	11: 98,313,596 (GRCm39)	C221F	probably damaging	Het
Exoc3l	T	C	8: 106,019,795 (GRCm39)	N353D	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
G3bp2	T	A	5: 92,216,347 (GRCm39)	H63L	probably benign	Het
Galnt17	A	G	5: 130,929,428 (GRCm39)	Y460H	probably damaging	Het
Gm6003	T	A	7: 32,865,004 (GRCm39)		noncoding transcript	Het
Ighv5-12-4	A	G	12: 113,726,154 (GRCm39)	L23P	probably damaging	Het
Ins1	T	C	19: 52,253,177 (GRCm39)	L39P	probably damaging	Het
Itpr3	T	G	17: 27,306,566 (GRCm39)	V210G	probably damaging	Het
Klrb1	T	A	6: 128,683,488 (GRCm39)	T210S	probably benign	Het
Krtap24-1	A	T	16: 88,408,596 (GRCm39)	F177I	probably damaging	Het
Lrrc37	A	T	11: 103,506,079 (GRCm39)	I1963K	probably benign	Het
Mcat	A	G	15: 83,431,875 (GRCm39)		probably null	Het
Mta2	C	A	19: 8,925,456 (GRCm39)	Q362K	probably benign	Het
Ndst4	T	C	3: 125,232,105 (GRCm39)	Y225H	probably benign	Het
Or4d11	T	C	19: 12,013,429 (GRCm39)	R226G	probably damaging	Het
Pcdha1	A	G	18: 37,065,415 (GRCm39)	D693G	probably benign	Het
Pik3r5	G	A	11: 68,368,294 (GRCm39)	D100N	possibly damaging	Het
Pld3	T	C	7: 27,231,796 (GRCm39)	D465G	probably damaging	Het
Prkdc	T	C	16: 15,496,172 (GRCm39)	Y788H	probably damaging	Het
Ptprt	T	A	2: 162,120,143 (GRCm39)	D108V	probably damaging	Het
Rasgrp3	T	A	17: 75,823,354 (GRCm39)	M475K	probably benign	Het
Rbak	A	G	5: 143,159,064 (GRCm39)	L663P	probably damaging	Het
Rnf17	A	G	14: 56,719,590 (GRCm39)	N947D	probably damaging	Het
Ryr2	T	C	13: 11,702,795 (GRCm39)	S2898G	probably benign	Het
Serpina1e	A	C	12: 103,917,087 (GRCm39)	L194R	probably damaging	Het
Smg6	T	C	11: 74,944,724 (GRCm39)	S158P	probably damaging	Het
Smtnl2	A	T	11: 72,292,342 (GRCm39)	V269E	possibly damaging	Het
Snx14	G	T	9: 88,265,855 (GRCm39)	P760Q	probably damaging	Het
Sorl1	T	C	9: 41,948,508 (GRCm39)	E759G	possibly damaging	Het
Sspo	C	T	6: 48,473,588 (GRCm39)	T4906M	possibly damaging	Het
Syne2	T	A	12: 75,991,944 (GRCm39)	F1970I	possibly damaging	Het
Tekt3	C	A	11: 62,974,768 (GRCm39)	H362Q	probably benign	Het
Tmem121	T	C	12: 113,152,547 (GRCm39)	V255A	possibly damaging	Het
Tmem201	T	C	4: 149,802,534 (GRCm39)	T614A	probably benign	Het
Tnc	T	C	4: 63,935,916 (GRCm39)	D340G	probably damaging	Het
Ttc28	A	T	5: 111,373,794 (GRCm39)	T1046S	probably benign	Het
Ubxn2a	T	C	12: 4,952,238 (GRCm39)	D8G	probably benign	Het
Vwde	T	C	6: 13,186,937 (GRCm39)	N850S	probably benign	Het
Zfp280d	A	G	9: 72,231,417 (GRCm39)	H451R	probably damaging	Het
Zfp462	T	C	4: 55,009,818 (GRCm39)	C595R	probably damaging	Het
Zfp768	A	G	7: 126,943,583 (GRCm39)	S182P	probably benign	Het

Other mutations in Mknk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5433:Mknk2	UTSW	10	80,503,059 (GRCm39)	missense	probably benign	0.00
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'- GCTCAGAAACAAGGCCTAGTG -3'
(R):5'- TTGGCCTTCCGCTTAGCAAC -3'

Sequencing Primer
(F):5'- CTCAGAAACAAGGCCTAGTGAAAGG -3'
(R):5'- TCCGCTTAGCAACAGCTG -3'

Posted On

2016-10-05