Mutagenetix > Incidental Mutation

Incidental Mutation 'R7943:Mknk2'

649170

Institutional Source

Beutler Lab

Gene Symbol

Mknk2

Ensembl Gene

ENSMUSG00000020190

Gene Name

MAP kinase-interacting serine/threonine kinase 2

Synonyms

Mnk2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7943 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80665327-80678112 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80675867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 3 (Q3L)

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

SMART Domains

Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190

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
AA Change: Q3L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000200082
AA Change: Q3L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: Q3L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	C	T	5: 8,686,222	T205I	probably benign	Het
Acsbg1	T	C	9: 54,622,737	H225R	probably damaging	Het
Anks1	T	A	17: 27,985,204	Y209N	probably damaging	Het
Appl1	T	A	14: 26,945,568	I377L	probably benign	Het
Arl9	A	T	5: 77,010,548	D159V	probably damaging	Het
Arsa	A	C	15: 89,474,089	L339R	probably damaging	Het
C2	A	G	17: 34,872,378	L380P	probably damaging	Het
Ccdc13	A	G	9: 121,799,130	C97R	unknown	Het
Ccdc74a	A	G	16: 17,650,552	H346R	probably benign	Het
Ccnl1	T	C	3: 65,956,905	I152V	probably benign	Het
Cd4	C	T	6: 124,870,244		probably null	Het
Ceacam5	A	T	7: 17,745,566	I203L	probably benign	Het
Ckap2	C	A	8: 22,175,074	R458L	probably damaging	Het
Cldn10	T	C	14: 118,861,859		probably null	Het
Col27a1	C	T	4: 63,318,283	R1377C	unknown	Het
Cry1	A	T	10: 85,143,120	M514K	probably benign	Het
Crybg2	T	G	4: 134,072,984	V176G	probably damaging	Het
Cyp2j5	C	T	4: 96,659,612	G131D	possibly damaging	Het
Ddx46	A	G	13: 55,669,722	Y720C	probably damaging	Het
Dock10	A	T	1: 80,648,289	V44D	probably damaging	Het
Enam	A	T	5: 88,488,551		probably null	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fam184a	C	T	10: 53,647,041	A956T	probably damaging	Het
Fbxw10	A	T	11: 62,850,661	R202*	probably null	Het
Fnip1	A	G	11: 54,502,388	E550G	probably damaging	Het
Gm37596	A	T	3: 93,692,763	C100S	probably benign	Het
Gm8300	C	T	12: 87,517,003	A36V	probably damaging	Het
Gpr149	A	G	3: 62,530,711	L675P	probably damaging	Het
Hivep3	T	C	4: 120,132,357	Y2002H	probably benign	Het
Hp	A	G	8: 109,575,555	Y254H	probably damaging	Het
Ighg1	G	T	12: 113,330,337	T62N		Het
Jcad	A	G	18: 4,672,700	E154G	probably damaging	Het
Kmt2a	A	G	9: 44,849,140	S471P	probably damaging	Het
Med13	A	G	11: 86,278,526	V1968A	probably damaging	Het
Nup98	G	A	7: 102,194,822	T65I	probably benign	Het
Olfr1028	A	G	2: 85,951,998	T312A	probably benign	Het
Olfr1499	A	T	19: 13,815,236	M118K	probably damaging	Het
Olfr585	G	A	7: 103,097,946	M68I	probably damaging	Het
Olfr763	T	A	10: 129,012,065	M260K	possibly damaging	Het
Pcdhgb4	C	T	18: 37,722,010	T486I	probably benign	Het
Perm1	T	A	4: 156,218,534	F512I	probably damaging	Het
Pgap3	A	T	11: 98,390,401	L262Q	probably damaging	Het
Pklr	A	C	3: 89,141,507	Y126S	probably damaging	Het
Ppl	C	T	16: 5,088,861	R1190H	probably damaging	Het
Ppm1k	T	C	6: 57,524,828	T117A	probably benign	Het
Prkd2	G	A	7: 16,850,319	E366K	probably benign	Het
Psd	C	A	19: 46,324,730	C67F	possibly damaging	Het
Ptpa	T	A	2: 30,432,044	F100L	probably damaging	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rock1	T	C	18: 10,112,357	E466G	probably damaging	Het
Sec16b	A	T	1: 157,554,757	M588L	probably benign	Het
Serpina1f	T	A	12: 103,693,690	H111L	probably damaging	Het
Sf3a1	T	C	11: 4,166,537	I76T	possibly damaging	Het
Shcbp1	A	T	8: 4,748,812	L369Q	possibly damaging	Het
Spef2	A	G	15: 9,601,085	M1697T	unknown	Het
St7	G	A	6: 17,844,912	C133Y	probably damaging	Het
Tex19.1	T	A	11: 121,147,160	W115R	possibly damaging	Het
Tfrc	T	A	16: 32,630,221	I726N	probably benign	Het
Thbs1	A	G	2: 118,119,617		probably null	Het
Trim43a	C	T	9: 88,582,185	P50S	probably benign	Het
Trpm4	A	T	7: 45,308,681	V935E	probably damaging	Het
Ttc12	A	T	9: 49,470,320	V117D	possibly damaging	Het
Ulbp1	T	C	10: 7,457,053	T82A	probably damaging	Het
Usp13	C	T	3: 32,876,940	H288Y	probably damaging	Het
Vmn2r82	A	G	10: 79,396,245	K693E	possibly damaging	Het
Vmn2r90	A	G	17: 17,712,304	T158A	probably damaging	Het
Vps8	A	G	16: 21,477,872	K540R	possibly damaging	Het
Zfp143	T	A	7: 110,072,474		probably null	Het
Zfp709	G	T	8: 71,890,089	C454F	probably damaging	Het

Other mutations in Mknk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Mknk2	APN	10	80667664	splice site	probably benign
IGL02471:Mknk2	APN	10	80668121	missense	probably damaging	0.99
IGL02643:Mknk2	APN	10	80668601	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTAACTGCAAGGGACACAGAGC -3'
(R):5'- TCTGTTCCCTGAGAAAGGCG -3'

Sequencing Primer
(F):5'- CAATCACAAGCCTGGGGGTG -3'
(R):5'- TTCGGGACCGCGCCTATAAAG -3'

Posted On

2020-09-15