Mutagenetix > Incidental Mutation

Incidental Mutation 'R5813:Mknk2'

459822

Institutional Source

Beutler Lab

Gene Symbol

Mknk2

Ensembl Gene

ENSMUSG00000020190

Gene Name

MAP kinase-interacting serine/threonine kinase 2

Synonyms

Mnk2, 2010016G11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5813 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

80501152-80512264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80511696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 5 (R5G)

Ref Sequence

ENSEMBL: ENSMUSP00000143655 (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: R5G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000200082
AA Change: R5G

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

SMART Domains

Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: R5G

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: 97.2%
20x: 95.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	A	G	3: 89,253,135 (GRCm39)	Y230H	probably benign	Het
Ano7	G	T	1: 93,312,641 (GRCm39)		probably null	Het
Arap2	T	C	5: 62,834,506 (GRCm39)	Y792C	probably damaging	Het
Art3	C	A	5: 92,560,100 (GRCm39)		probably benign	Het
Atad2	C	T	15: 57,963,250 (GRCm39)	G1085D	probably benign	Het
Birc6	C	A	17: 74,953,497 (GRCm39)	A3253E	probably damaging	Het
C9	C	T	15: 6,526,607 (GRCm39)	P547L	probably benign	Het
Cecr2	T	C	6: 120,739,169 (GRCm39)	S1271P	probably damaging	Het
Ces1e	T	A	8: 93,948,305 (GRCm39)	K105*	probably null	Het
Cpsf4	A	G	5: 145,115,683 (GRCm39)	N204S	probably benign	Het
Cracd	A	G	5: 77,006,275 (GRCm39)	T879A	unknown	Het
Dgkz	T	C	2: 91,769,733 (GRCm39)	D615G	possibly damaging	Het
Disp1	G	T	1: 182,869,974 (GRCm39)	N815K	probably damaging	Het
Enah	A	G	1: 181,758,750 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,800,919 (GRCm39)	T1322A	possibly damaging	Het
Frem1	A	G	4: 82,918,395 (GRCm39)	F516L	probably damaging	Het
Fry	G	A	5: 150,323,136 (GRCm39)	A1096T	probably damaging	Het
Fyco1	T	C	9: 123,660,413 (GRCm39)	Y190C	probably damaging	Het
Gfra1	T	C	19: 58,227,687 (GRCm39)	D417G	probably benign	Het
Gigyf2	T	C	1: 87,368,485 (GRCm39)	I1055T	probably damaging	Het
Invs	A	G	4: 48,398,146 (GRCm39)	E444G	probably damaging	Het
Itga10	A	G	3: 96,559,901 (GRCm39)	T519A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kdm2b	A	G	5: 123,009,931 (GRCm39)	S727P	probably benign	Het
Kidins220	A	T	12: 25,107,139 (GRCm39)	K1531*	probably null	Het
Ksr1	C	T	11: 78,929,024 (GRCm39)	V266M	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lipi	T	C	16: 75,370,798 (GRCm39)	R140G	possibly damaging	Het
Lrrc32	T	C	7: 98,147,618 (GRCm39)	S133P	probably damaging	Het
Map3k7	T	A	4: 31,964,318 (GRCm39)	I19N	probably damaging	Het
Marf1	A	G	16: 13,970,449 (GRCm39)	V90A	probably benign	Het
Mark3	T	C	12: 111,621,877 (GRCm39)	L673P	probably damaging	Het
Meis1	T	C	11: 18,966,229 (GRCm39)	H48R	probably benign	Het
Mettl26	G	A	17: 26,094,995 (GRCm39)	V87M	probably damaging	Het
Mtcl3	G	T	10: 29,026,240 (GRCm39)	V441F	probably damaging	Het
Mterf1b	T	C	5: 4,246,956 (GRCm39)	V199A	possibly damaging	Het
Ncs1	T	A	2: 31,170,666 (GRCm39)		probably null	Het
Nek10	T	C	14: 14,986,704 (GRCm38)	V1014A	probably benign	Het
Notch2	A	G	3: 98,042,744 (GRCm39)	N1370D	probably benign	Het
Nr2e3	TCCATCGGAGTGTTCCC	TC	9: 59,850,701 (GRCm39)		probably benign	Het
Opn5	C	G	17: 42,903,897 (GRCm39)	R146T	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5m3	T	C	2: 85,838,636 (GRCm39)	I172T	probably damaging	Het
Or8b55	T	A	9: 38,726,952 (GRCm39)	M51K	probably benign	Het
Or8g33	A	G	9: 39,338,032 (GRCm39)	C112R	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pcyox1l	C	T	18: 61,832,359 (GRCm39)		probably null	Het
Plxnb2	T	C	15: 89,044,962 (GRCm39)	T1128A	possibly damaging	Het
Prex1	T	C	2: 166,425,127 (GRCm39)	T960A	probably benign	Het
Prkaa2	A	C	4: 104,893,291 (GRCm39)	*553G	probably null	Het
Rasgrp4	A	G	7: 28,844,639 (GRCm39)	D297G	probably damaging	Het
Sdf4	G	A	4: 156,083,856 (GRCm39)	V109I	probably benign	Het
Serpinb3d	T	C	1: 107,007,027 (GRCm39)	K227R	probably benign	Het
Sgsm1	A	T	5: 113,398,822 (GRCm39)	I750N	probably damaging	Het
Shtn1	T	A	19: 59,020,673 (GRCm39)	K183M	probably damaging	Het
Skic3	A	G	13: 76,303,852 (GRCm39)	T1257A	probably benign	Het
Slc22a30	T	C	19: 8,381,945 (GRCm39)	T109A	probably benign	Het
Slco1c1	A	G	6: 141,487,929 (GRCm39)	D99G	probably damaging	Het
Tcf25	T	A	8: 124,122,354 (GRCm39)		probably null	Het
Tex10	A	G	4: 48,452,928 (GRCm39)	V677A	probably benign	Het
Tmem131l	A	G	3: 83,847,879 (GRCm39)	S329P	probably benign	Het
Trappc10	T	A	10: 78,058,573 (GRCm39)	N136I	probably damaging	Het
Trpt1	T	C	19: 6,975,906 (GRCm39)	F173L	probably benign	Het
Ube4b	G	A	4: 149,421,925 (GRCm39)	R955C	probably damaging	Het
Usp34	C	A	11: 23,371,340 (GRCm39)	P1840T	probably benign	Het
Vmn1r27	A	T	6: 58,192,985 (GRCm39)	N6K	possibly damaging	Het
Wdr25	T	C	12: 108,993,347 (GRCm39)	V521A	possibly damaging	Het
Wdr64	G	A	1: 175,639,623 (GRCm39)	E1031K	possibly damaging	Het
Wnt10a	A	G	1: 74,839,755 (GRCm39)	N147S	probably damaging	Het
Zbed5	T	C	5: 129,931,059 (GRCm39)	I336T	possibly damaging	Het
Zfp758	T	A	17: 22,594,796 (GRCm39)	H427Q	probably damaging	Het
Zfp961	C	A	8: 72,722,070 (GRCm39)	H194Q	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
R5062:Mknk2	UTSW	10	80,507,603 (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
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

Posted On

2017-02-27