Mutagenetix > Incidental Mutation

Incidental Mutation 'R5062:Mknk2'

386699

Institutional Source

Beutler Lab

Gene Symbol

Mknk2

Ensembl Gene

ENSMUSG00000020190

Gene Name

MAP kinase-interacting serine/threonine kinase 2

Synonyms

Mnk2, 2010016G11Rik

MMRRC Submission

042652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80501152-80512264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80507603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 58 (R58W)

Ref Sequence

ENSEMBL: ENSMUSP00000143679 (fasta)

Gene Model

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

AlphaFold

Q8CDB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000003433
AA Change: R23W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190
AA Change: R23W

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 damaging
Transcript: ENSMUST00000197276
AA Change: R58W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143679
Gene: ENSMUSG00000020190
AA Change: R58W

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 damaging
Transcript: ENSMUST00000198819
AA Change: R23W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000199949

Predicted Effect

probably damaging
Transcript: ENSMUST00000200082
AA Change: R70W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: R70W

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

0.2024

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.1%

Validation Efficiency

100% (79/79)

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
Abca6	A	T	11: 110,067,892 (GRCm39)	I1593N	probably benign	Het
Akr1b10	G	T	6: 34,369,041 (GRCm39)	K173N	probably damaging	Het
Artn	A	T	4: 117,784,873 (GRCm39)	L3Q	probably damaging	Het
Asxl3	T	A	18: 22,655,775 (GRCm39)	S1262T	possibly damaging	Het
Atp6v0a4	A	T	6: 38,051,118 (GRCm39)	M420K	probably benign	Het
Bcam	T	A	7: 19,494,026 (GRCm39)	T422S	possibly damaging	Het
Casp2	C	T	6: 42,246,206 (GRCm39)		probably benign	Het
Ccdc137	A	G	11: 120,353,341 (GRCm39)		probably benign	Het
Cd177	C	A	7: 24,443,741 (GRCm39)	A786S	probably benign	Het
Cdca4	T	C	12: 112,785,483 (GRCm39)	N82D	probably benign	Het
Clu	A	C	14: 66,217,177 (GRCm39)	T337P	probably damaging	Het
Col6a3	A	C	1: 90,707,074 (GRCm39)	I2013S	unknown	Het
Cpne9	T	A	6: 113,281,449 (GRCm39)	M510K	probably damaging	Het
Cyp3a13	A	C	5: 137,897,161 (GRCm39)	N384K	possibly damaging	Het
Fam186a	A	C	15: 99,842,527 (GRCm39)	I1239S	possibly damaging	Het
Fryl	T	C	5: 73,233,236 (GRCm39)	E413G	possibly damaging	Het
Fscn2	A	C	11: 120,257,575 (GRCm39)	Y312S	probably damaging	Het
Fshr	A	T	17: 89,293,474 (GRCm39)	C401*	probably null	Het
Glyat	A	C	19: 12,627,627 (GRCm39)	Q74P	probably damaging	Het
Gm6158	A	T	14: 24,120,158 (GRCm39)		noncoding transcript	Het
Grm7	A	G	6: 110,623,097 (GRCm39)	N90S	probably damaging	Het
Hectd1	A	T	12: 51,791,662 (GRCm39)	C2536S	probably damaging	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Kctd3	A	C	1: 188,727,890 (GRCm39)		probably benign	Het
Klhl30	A	G	1: 91,283,300 (GRCm39)	T301A	probably benign	Het
Klra9	T	C	6: 130,156,072 (GRCm39)	K228E	possibly damaging	Het
Lamc3	A	T	2: 31,795,679 (GRCm39)	T355S	possibly damaging	Het
Lcmt1	A	C	7: 123,010,053 (GRCm39)		probably null	Het
Limch1	C	T	5: 67,126,578 (GRCm39)	P60S	probably damaging	Het
Lrfn2	A	G	17: 49,377,528 (GRCm39)	D203G	probably damaging	Het
Mc5r	T	C	18: 68,472,352 (GRCm39)	L237P	probably damaging	Het
Mrgpra2b	T	C	7: 47,152,676 (GRCm39)		probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Nae1	A	T	8: 105,243,334 (GRCm39)	C395S	possibly damaging	Het
Ncoa1	A	G	12: 4,309,333 (GRCm39)	M1321T	probably damaging	Het
Neb	A	C	2: 52,170,513 (GRCm39)	F1720V	possibly damaging	Het
Nectin2	C	T	7: 19,472,198 (GRCm39)	V64I	probably benign	Het
Nisch	T	A	14: 30,894,397 (GRCm39)	T1145S	probably damaging	Het
Nlrp5	A	T	7: 23,135,335 (GRCm39)	R1009*	probably null	Het
Or12d13	A	T	17: 37,647,822 (GRCm39)	H100Q	probably damaging	Het
Or4k15	T	A	14: 50,364,894 (GRCm39)	Y287N	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pak1ip1	A	G	13: 41,161,621 (GRCm39)		probably benign	Het
Pcm1	T	C	8: 41,712,297 (GRCm39)	V189A	probably damaging	Het
Peak1	G	T	9: 56,167,573 (GRCm39)	N118K	probably damaging	Het
Phgdh	T	A	3: 98,235,655 (GRCm39)	I121F	probably damaging	Het
Pi4ka	G	T	16: 17,127,261 (GRCm39)	A1064E	probably benign	Het
Pkhd1	A	C	1: 20,655,935 (GRCm39)	C199W	probably benign	Het
Plat	A	G	8: 23,262,327 (GRCm39)	D117G	probably benign	Het
Ppp2r2b	C	A	18: 42,821,526 (GRCm39)	V211L	possibly damaging	Het
Ptgs1	A	G	2: 36,127,294 (GRCm39)	D60G	probably damaging	Het
Ryr2	T	C	13: 11,715,240 (GRCm39)	E2776G	probably damaging	Het
Sema4c	C	T	1: 36,592,059 (GRCm39)		probably null	Het
Sharpin	T	C	15: 76,231,811 (GRCm39)		probably benign	Het
Slamf6	A	G	1: 171,764,100 (GRCm39)	I164M	possibly damaging	Het
Slco1a7	A	C	6: 141,713,180 (GRCm39)	M67R	possibly damaging	Het
Spef1	A	G	2: 131,015,201 (GRCm39)	Y46H	probably damaging	Het
Spns1	G	A	7: 125,973,501 (GRCm39)		probably benign	Het
Supt5	C	T	7: 28,028,440 (GRCm39)		probably null	Het
Tbx5	T	A	5: 119,974,987 (GRCm39)	D3E	probably damaging	Het
Thbs1	T	C	2: 117,951,718 (GRCm39)		probably null	Het
Tmem140	G	A	6: 34,849,897 (GRCm39)	V138M	probably damaging	Het
Tmem200a	T	A	10: 25,869,813 (GRCm39)	D152V	probably damaging	Het
Tmem200b	A	G	4: 131,649,848 (GRCm39)	D256G	probably damaging	Het
Tns1	A	T	1: 73,992,023 (GRCm39)	L885Q	probably damaging	Het
Umod	G	A	7: 119,071,644 (GRCm39)	Q366*	probably null	Het
Vsir	A	G	10: 60,200,042 (GRCm39)	I208V	probably damaging	Het
Zfp646	G	A	7: 127,479,671 (GRCm39)	R616H	probably damaging	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
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
R5518:Mknk2	UTSW	10	80,504,475 (GRCm39)	missense	possibly damaging	0.92
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'- TTGACAGCATATTCCTGGTTGG -3'
(R):5'- TGACTTCAGCCCACAGTGTG -3'

Sequencing Primer
(F):5'- TGAGATTGACACAGGTCTGCAC -3'
(R):5'- ACAGTGTGAAGCCCGACCTG -3'

Posted On

2016-06-06