Mutagenetix > Incidental Mutation

Incidental Mutation 'H8562:Mknk2'

44357

Institutional Source

Beutler Lab

Gene Symbol

Mknk2

Ensembl Gene

ENSMUSG00000020190

Gene Name

MAP kinase-interacting serine/threonine kinase 2

Synonyms

Mnk2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

H8562 (G3) of strain 604

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80665327-80678112 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 80668934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200082

SMART Domains

Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (109/114)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	A	G	19: 7,422,921	K251E	probably benign	Het
2810021J22Rik	T	C	11: 58,880,891	C400R	probably damaging	Het
4930519F16Rik	A	T	X: 103,255,857		noncoding transcript	Het
5430402E10Rik	G	T	X: 77,922,734	H117Q	probably damaging	Het
Abca15	T	C	7: 120,374,854		probably benign	Het
Abca8a	A	G	11: 110,043,009	I1190T	probably benign	Het
Acmsd	T	C	1: 127,749,058	Y107H	probably benign	Het
Adcy5	A	G	16: 35,267,181	I471V	probably damaging	Het
Aff2	G	A	X: 69,848,926	A939T	unknown	Het
Ampd2	C	A	3: 108,081,111	A11S	probably benign	Het
Aoah	T	A	13: 20,816,524	C43S	probably damaging	Het
Apobec4	T	C	1: 152,757,174	S318P	probably damaging	Het
Arid2	C	T	15: 96,369,546	P636S	possibly damaging	Het
Atp13a3	A	T	16: 30,359,725	C164*	probably null	Het
Avl9	G	A	6: 56,757,310	A625T	probably damaging	Het
Bco1	G	T	8: 117,105,647		probably benign	Het
Brd3	C	T	2: 27,450,533	G555S	possibly damaging	Het
Brd4	A	T	17: 32,229,403		probably benign	Het
Btbd7	A	G	12: 102,788,302	V735A	probably benign	Het
C2cd2	G	T	16: 97,879,640	Q325K	possibly damaging	Het
Carmil1	A	G	13: 24,064,647	V485A	probably benign	Het
Casz1	T	C	4: 148,933,451	L113P	probably damaging	Het
Ccdc3	T	C	2: 5,138,205	L91S	probably damaging	Het
Cd180	A	G	13: 102,705,418	K324R	probably benign	Het
Cd200r4	A	G	16: 44,833,373	T132A	possibly damaging	Het
Cops7a	A	G	6: 124,962,453		probably benign	Het
Cyp2c29	A	T	19: 39,309,662	N217I	probably damaging	Het
Dapk1	C	A	13: 60,761,312	H1246Q	probably damaging	Het
Dmbt1	T	A	7: 131,112,076	C1450*	probably null	Het
Dnah10	T	A	5: 124,829,529	M4151K	probably damaging	Het
Dnaic1	C	A	4: 41,629,833	F452L	possibly damaging	Het
Dync1h1	T	C	12: 110,616,807	M446T	probably benign	Het
Dytn	A	C	1: 63,674,912	S143A	possibly damaging	Het
E130308A19Rik	T	A	4: 59,691,033	L289Q	possibly damaging	Het
Efemp2	G	T	19: 5,480,649	V250L	probably benign	Het
Elmo1	T	C	13: 20,280,863	S201P	probably damaging	Het
Fam208b	A	T	13: 3,577,000	S983R	probably damaging	Het
Fam222b	T	A	11: 78,154,578	C194S	probably damaging	Het
Fam91a1	G	A	15: 58,427,121		probably null	Het
Fcf1	T	A	12: 84,980,612		probably benign	Het
Fnip1	T	A	11: 54,480,297	F134L	probably damaging	Het
Fyn	T	C	10: 39,511,954	S69P	probably benign	Het
Gabbr1	T	C	17: 37,071,949	Y845H	probably damaging	Het
Gfra2	C	T	14: 70,978,378	T169M	possibly damaging	Het
Gm13083	T	A	4: 143,615,350		probably benign	Het
Gm1966	A	G	7: 106,603,149	F296S	probably damaging	Het
Gm5435	T	C	12: 82,495,675		noncoding transcript	Het
Gm7251	A	G	13: 49,805,672	Y94H	probably damaging	Het
Heatr1	T	A	13: 12,408,713	N530K	probably benign	Het
Hist1h2bn	T	C	13: 21,754,478	V119A	probably benign	Het
Icam5	A	T	9: 21,035,146	E355V	probably benign	Het
Ighv3-6	A	G	12: 114,288,538		probably benign	Het
Intu	T	C	3: 40,692,673	S659P	probably damaging	Het
Ivns1abp	T	C	1: 151,354,695	V198A	probably damaging	Het
Katnb1	T	A	8: 95,095,510		probably benign	Het
Kcna5	T	C	6: 126,533,423	S581G	probably damaging	Het
Kif23	A	G	9: 61,924,065	V741A	probably benign	Het
Lbr	A	T	1: 181,820,668		probably benign	Het
Loxhd1	A	C	18: 77,341,931	T508P	possibly damaging	Het
Lrrk2	T	A	15: 91,673,358	N26K	probably benign	Het
Ly96	A	T	1: 16,691,694	K41N	probably damaging	Het
Lypd1	C	T	1: 125,910,537		probably benign	Het
Macf1	A	G	4: 123,466,040	V1817A	probably benign	Het
Mmp19	A	T	10: 128,795,601	I117L	probably benign	Het
Mmrn1	G	A	6: 60,958,180	G220D	probably damaging	Het
Mtrr	T	C	13: 68,564,377	H630R	probably damaging	Het
Nfat5	T	C	8: 107,339,382		probably benign	Het
Ngef	C	A	1: 87,487,807	K288N	possibly damaging	Het
Nkain4	T	C	2: 180,943,145	E71G	probably benign	Het
Odc1	T	C	12: 17,548,037	Y122H	probably benign	Het
Olfr384	T	C	11: 73,603,447	I289T	probably damaging	Het
Olfr715	C	A	7: 107,129,241	A51S	probably benign	Het
Olfr919	C	A	9: 38,697,910	G156V	probably damaging	Het
Osbpl3	A	T	6: 50,347,466	N190K	probably benign	Het
Osgepl1	T	C	1: 53,315,039	V54A	probably damaging	Het
Otogl	T	C	10: 107,910,956	Y19C	probably benign	Het
Pop1	T	C	15: 34,530,212	S919P	probably benign	Het
Prl8a9	A	G	13: 27,562,601		probably benign	Het
Prr14l	A	T	5: 32,793,728	V1907D	probably damaging	Het
Ptprn	T	C	1: 75,254,620	T547A	possibly damaging	Het
Rdh14	G	T	12: 10,394,709	V187F	probably damaging	Het
Rev1	A	G	1: 38,056,767	L853P	probably damaging	Het
Robo4	T	C	9: 37,405,810		probably benign	Het
Ryr2	A	G	13: 11,717,141		probably benign	Het
Sec16a	G	A	2: 26,441,505	P166L	probably benign	Het
Slc6a19	G	A	13: 73,700,124		probably benign	Het
Slco4c1	T	A	1: 96,842,485	T285S	probably benign	Het
Speg	G	T	1: 75,415,597	A1633S	probably benign	Het
Srpk1	T	A	17: 28,602,733	T236S	probably benign	Het
Stxbp5	T	C	10: 9,769,443	N262S	probably benign	Het
Suco	T	C	1: 161,852,851	E317G	probably damaging	Het
Syk	A	G	13: 52,640,621	N441D	probably damaging	Het
Syt17	T	C	7: 118,408,069	K334R	probably benign	Het
Sytl5	A	T	X: 9,960,096	H436L	probably benign	Het
Thada	A	G	17: 84,446,544	L333P	probably damaging	Het
Thap12	T	C	7: 98,715,107	Y161H	probably damaging	Het
Thbs2	C	T	17: 14,671,453	V941I	probably benign	Het
Tktl1	A	T	X: 74,181,864	E72V	probably damaging	Het
Tm4sf5	T	A	11: 70,505,512		probably benign	Het
Urb1	T	A	16: 90,769,469	M1477L	probably benign	Het
Vcp	T	A	4: 42,982,596	I699F	probably damaging	Het
Vmn1r232	T	C	17: 20,913,394	T315A	probably benign	Het
Vmn2r100	T	A	17: 19,521,490	W155R	possibly damaging	Het
Vmn2r19	T	C	6: 123,315,902	I301T	possibly damaging	Het
Wwc2	A	G	8: 47,920,666	V55A	possibly damaging	Het
Xirp2	A	G	2: 67,515,457	T2681A	probably benign	Het
Zfp39	C	A	11: 58,900,686	L58F	probably damaging	Het
Zfp612	T	C	8: 110,090,038	F587L	probably damaging	Het
Zfp810	T	C	9: 22,279,091	R174G	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
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
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'- TCGTAGATGCTGGCCTCTTCACTG -3'
(R):5'- AGAGAACATCCTATGTGAGCACCCC -3'

Sequencing Primer
(F):5'- TCAGAAGGGATGCCAGCTC -3'
(R):5'- AGGTGAGGCTGCCTGAC -3'

Posted On

2013-06-11