Mutagenetix > Incidental Mutation

Incidental Mutation 'R4649:Mknk2'

350612

Institutional Source

Beutler Lab

Gene Symbol

Mknk2

Ensembl Gene

ENSMUSG00000020190

Gene Name

MAP kinase-interacting serine/threonine kinase 2

Synonyms

Mnk2

MMRRC Submission

041910-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80665327-80678112 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80669339 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 186 (V186E)

Ref Sequence

ENSEMBL: ENSMUSP00000143508 (fasta)

Gene Model

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

AlphaFold

Q8CDB0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003433
AA Change: V139E

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190
AA Change: V139E

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

probably damaging
Transcript: ENSMUST00000200082
AA Change: V186E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: V186E

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Abca4	G	T	3: 122,169,893	V841F	probably damaging	Het
Adcy10	G	A	1: 165,504,049	E84K	probably damaging	Het
Adgrg6	C	A	10: 14,468,827	M127I	probably damaging	Het
Agpat5	A	G	8: 18,879,652	I266V	possibly damaging	Het
Agtpbp1	A	T	13: 59,528,399	Y186N	possibly damaging	Het
Alx1	A	T	10: 103,009,332	N279K	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Arsi	A	G	18: 60,917,098	Y351C	probably damaging	Het
B4galnt3	T	A	6: 120,224,620	R155W	probably damaging	Het
BC028528	T	C	3: 95,888,265	E75G	probably damaging	Het
Bmp2k	C	T	5: 97,053,111	P297S	possibly damaging	Het
Btnl4	A	G	17: 34,472,628	S296P	probably benign	Het
Bzw2	A	T	12: 36,123,981	V98E	probably null	Het
Cacna1d	C	T	14: 30,095,408	M1232I	probably benign	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Catsperb	G	A	12: 101,541,512	A513T	probably benign	Het
Cd19	A	G	7: 126,414,492	S42P	probably benign	Het
Chml	A	G	1: 175,687,396	S138P	probably benign	Het
Clic6	T	G	16: 92,530,939		probably null	Het
Col12a1	A	T	9: 79,639,794	V2252E	probably damaging	Het
Cplx2	G	A	13: 54,379,548	E82K	probably benign	Het
Csmd2	G	A	4: 128,546,073	V3107M	probably benign	Het
Cspg4	T	A	9: 56,886,865	V628D	possibly damaging	Het
Dcaf13	G	A	15: 39,138,242	R315Q	possibly damaging	Het
Deaf1	A	G	7: 141,297,573	V547A	possibly damaging	Het
Dmxl1	C	T	18: 49,878,631	T1285I	probably damaging	Het
Dnah3	C	A	7: 120,047,698	W1036L	probably damaging	Het
Dpy19l1	A	C	9: 24,482,054	S140A	possibly damaging	Het
Dsg2	T	A	18: 20,602,245	D1093E	possibly damaging	Het
Edaradd	T	A	13: 12,508,423	H12L	probably damaging	Het
Enam	T	C	5: 88,492,968	M163T	probably benign	Het
Fbxo22	T	A	9: 55,221,049	V218E	probably damaging	Het
Fbxo34	A	T	14: 47,529,628	K148N	probably damaging	Het
Foxi3	A	G	6: 70,956,976	D149G	probably damaging	Het
Gbp8	C	T	5: 105,041,941	G75D	probably damaging	Het
Gm10784	C	T	13: 49,945,215		noncoding transcript	Het
Gm11127	T	C	17: 36,057,876	Y104C	possibly damaging	Het
Gm7247	G	A	14: 51,569,594		probably null	Het
Grik3	T	A	4: 125,650,485	V333E	probably damaging	Het
Gsap	A	T	5: 21,226,311	D211V	probably damaging	Het
Ino80	T	C	2: 119,431,008	N725S	probably damaging	Het
Itgad	A	G	7: 128,189,531	I443V	probably benign	Het
Itsn1	T	A	16: 91,841,588	I52N	probably damaging	Het
Kmt2b	TCTCCTCCTCCTCCTCCTCCTCCTCC	TCTCCTCCTCCTCCTCCTCCTCC	7: 30,586,358		probably benign	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Lrrk1	T	C	7: 66,273,053	I1366V	probably benign	Het
Lyn	C	A	4: 3,738,850	Q41K	probably benign	Het
Mapk13	C	T	17: 28,778,487	R360*	probably null	Het
Mapk8ip3	T	A	17: 24,904,752	I599F	probably damaging	Het
Me1	T	C	9: 86,679,852	K60R	probably benign	Het
Mga	T	A	2: 119,941,493	D1532E	possibly damaging	Het
Miga1	G	A	3: 152,279,005	S427L	probably benign	Het
Myo1a	C	A	10: 127,710,217	N236K	probably benign	Het
Myt1	A	G	2: 181,797,414	D243G	probably benign	Het
Ncf4	T	C	15: 78,255,989	V196A	possibly damaging	Het
Nlrp5	G	T	7: 23,418,178	L442F	probably damaging	Het
Olfm4	G	A	14: 80,021,307	D332N	probably benign	Het
Olfr1254	C	A	2: 89,789,293	V20F	probably benign	Het
Olfr32	T	A	2: 90,139,088	D17V	probably damaging	Het
Osbpl11	T	A	16: 33,196,082	M69K	probably benign	Het
Oxnad1	T	A	14: 32,102,409	*312K	probably null	Het
Plekhg1	A	G	10: 3,956,985	Q634R	probably benign	Het
Plekhh2	T	C	17: 84,575,263	Y733H	probably damaging	Het
Ppp1r21	A	G	17: 88,549,513	H132R	probably benign	Het
Prkcq	T	C	2: 11,279,522	V501A	possibly damaging	Het
Prpf38b	G	A	3: 108,904,092		probably benign	Het
Prpf4b	A	T	13: 34,899,971	M908L	probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
Pudp	T	C	18: 50,568,188	D158G	probably damaging	Het
R3hdm1	T	C	1: 128,184,444	S422P	probably damaging	Het
Ranbp3	T	A	17: 56,696,640		probably null	Het
Ranbp6	A	G	19: 29,810,321	V877A	probably benign	Het
Rgsl1	A	T	1: 153,817,582	S618T	probably benign	Het
Rhox2a	G	C	X: 37,245,309	R43P	probably benign	Het
Rhox2a	A	T	X: 37,245,362	I61L	probably benign	Het
Rnf207	A	C	4: 152,312,155	D466E	probably benign	Het
Rnf7	A	G	9: 96,471,830	I80T	probably benign	Het
Ros1	T	A	10: 52,129,668	I878F	possibly damaging	Het
Rsbn1	T	A	3: 103,953,780		probably null	Het
Sbk1	T	C	7: 126,291,129	S105P	probably damaging	Het
Sdk1	T	C	5: 142,006,625	Y790H	probably damaging	Het
Sec62	T	A	3: 30,810,534	N182K	unknown	Het
Slc15a1	T	C	14: 121,478,092	Y345C	probably damaging	Het
Slc27a1	G	A	8: 71,570,764	A15T	probably benign	Het
Slc35d1	A	G	4: 103,213,229	F110L	probably damaging	Het
Slc39a5	T	A	10: 128,397,267	S333C	probably benign	Het
Tarbp1	A	G	8: 126,447,195	S927P	probably damaging	Het
Tns1	A	G	1: 73,953,771	S583P	probably damaging	Het
Trim38	A	T	13: 23,782,969	D133V	probably damaging	Het
Trim40	T	C	17: 36,882,639		probably null	Het
Trim42	C	A	9: 97,362,945	V601L	probably benign	Het
Trpc7	G	A	13: 56,887,554	R189C	probably damaging	Het
Ttc29	A	T	8: 78,333,579	Y376F	probably benign	Het
Vmn2r63	A	G	7: 42,903,690	I714T	possibly damaging	Het
Vmn2r68	C	A	7: 85,221,535	A847S	probably benign	Het
Wdr63	A	G	3: 146,048,167	S713P	probably damaging	Het
Zbp1	G	A	2: 173,207,815	P385S	possibly damaging	Het
Zfat	A	G	15: 68,184,476	Y237H	probably damaging	Het
Zfp236	A	T	18: 82,597,659	W1840R	probably damaging	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp462	T	A	4: 55,009,349	N438K	probably benign	Het
Zfp952	T	A	17: 33,002,925	V88E	probably damaging	Het
Znfx1	G	T	2: 167,056,356	A216D	probably benign	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
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
R7943:Mknk2	UTSW	10	80675867	missense	probably benign	0.00
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'- CTCACATAGGATGTTCTCTGGC -3'
(R):5'- ACAGGAAGTGCCATCCAAGG -3'

Sequencing Primer
(F):5'- CACATAGGATGTTCTCTGGCTTTAG -3'
(R):5'- AAGGGCCCCAGCTTTGATG -3'

Posted On

2015-10-08