Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:Mknk2'

277440

Institutional Source

Beutler Lab

Gene Symbol

Mknk2

Ensembl Gene

ENSMUSG00000020190

Gene Name

MAP kinase-interacting serine/threonine kinase 2

Synonyms

Mnk2

MMRRC Submission

040895-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80665327-80678112 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 80667975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 367 (W367*)

Ref Sequence

ENSEMBL: ENSMUSP00000143508 (fasta)

Gene Model

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

AlphaFold

Q8CDB0

Predicted Effect

probably null
Transcript: ENSMUST00000003433
AA Change: W320*

SMART Domains

Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190
AA Change: W320*

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 null
Transcript: ENSMUST00000200082
AA Change: W367*

SMART Domains

Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: W367*

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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,736,324		probably null	Het
Abcc12	C	T	8: 86,553,391	E338K	probably benign	Het
Abcc5	A	T	16: 20,372,156	S815T	probably benign	Het
Ankrd16	G	A	2: 11,789,808	E335K	probably benign	Het
Atm	A	G	9: 53,503,075	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,631,652	R281H	probably damaging	Het
Blvra	C	T	2: 127,095,191	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,116,168		probably benign	Het
Cacna2d3	A	G	14: 29,347,120		probably null	Het
Cacng8	T	C	7: 3,394,474	S84P	probably damaging	Het
Cad	T	A	5: 31,061,650	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641	S11P	probably benign	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Corin	T	C	5: 72,422,165	E155G	probably benign	Het
Cul9	T	C	17: 46,525,135	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,737,559	E501G	probably damaging	Het
Dennd3	T	A	15: 73,542,732	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,501,656	I2520L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Fgf14	A	C	14: 123,980,389	I234R	probably benign	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gad2	T	G	2: 22,684,988	D472E	probably benign	Het
Garnl3	G	T	2: 32,992,228	H832N	probably benign	Het
Gm13941	T	C	2: 111,104,853	M11V	unknown	Het
Gnptab	T	A	10: 88,433,577	L714*	probably null	Het
Golgb1	C	A	16: 36,898,733	Q334K	probably benign	Het
Gp9	A	G	6: 87,779,151	I49M	probably benign	Het
Guf1	A	G	5: 69,561,157	N213S	probably damaging	Het
H2-K1	T	G	17: 33,997,329	H281P	probably damaging	Het
Hhip	T	A	8: 79,997,495	M373L	probably benign	Het
Ifi203	C	T	1: 173,933,796	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,357,798	L88S	probably damaging	Het
Kcna3	T	C	3: 107,036,696	Y92H	possibly damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrguk	A	G	6: 34,073,768	D387G	probably damaging	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Mocos	A	G	18: 24,676,662	K441E	probably damaging	Het
Mpnd	T	C	17: 56,011,692	S150P	probably damaging	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Neurod4	C	T	10: 130,270,482	V308I	probably benign	Het
Nxf3	C	T	X: 136,073,983	V474I	probably benign	Het
Olfr1037	A	T	2: 86,085,407	Y123*	probably null	Het
Olfr976	A	T	9: 39,956,581	M118K	probably damaging	Het
Pam	T	A	1: 97,854,756		probably benign	Het
Pde5a	T	C	3: 122,803,160	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,137,121	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,356,519	R376L	probably damaging	Het
Proz	A	G	8: 13,073,533	E268G	probably benign	Het
Rimbp3	A	T	16: 17,210,299	H529L	probably benign	Het
Rnf103	C	G	6: 71,508,875	C163W	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Sept11	G	T	5: 93,162,167	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,702,272	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,314,443	V570A	probably damaging	Het
Spout1	T	C	2: 30,177,407		probably null	Het
Syne2	T	C	12: 76,048,622	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,868,675	I223N	probably damaging	Het
Tead2	T	A	7: 45,232,328		probably null	Het
Thsd1	A	G	8: 22,259,411	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,242,679	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,208,690	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,460,415	H612N	probably damaging	Het
Wnk1	C	T	6: 119,969,354	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,423,996	H282Q	probably benign	Het
Zfp335	C	A	2: 164,900,106		probably null	Het
Zmym2	T	A	14: 56,921,499		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
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
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'- AGGGAAGGCTGAGTTCTCAG -3'
(R):5'- AGGCATCTAGATTGGGCCAGATC -3'

Sequencing Primer
(F):5'- CTGAGTTCTCAGCTGGGCAG -3'
(R):5'- CCAGATCTGTTTTGGGATGACTC -3'

Posted On

2015-04-06