Mutagenetix > Incidental Mutation

Incidental Mutation 'R6151:Mknk2'

489273

Institutional Source

Beutler Lab

Gene Symbol

Mknk2

Ensembl Gene

ENSMUSG00000020190

Gene Name

MAP kinase-interacting serine/threonine kinase 2

Synonyms

Mnk2

MMRRC Submission

044298-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6151 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80665327-80678112 bp(-) (GRCm38)

Type of Mutation

splice site (2921 bp from exon)

DNA Base Change (assembly)

T to C at 80669025 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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
AA Change: I177V

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190
AA Change: I177V

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 null
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 null
Transcript: ENSMUST00000198819

Predicted Effect

probably null
Transcript: ENSMUST00000199949

Predicted Effect

probably damaging
Transcript: ENSMUST00000200082
AA Change: I224V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: I224V

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	A	T	13: 66,431,681 (GRCm38)	C248S	probably damaging	Het
3110009E18Rik	A	G	1: 120,171,486 (GRCm38)		probably null	Het
4930550C14Rik	G	T	9: 53,414,383 (GRCm38)	R73S	probably damaging	Het
Abca1	A	G	4: 53,085,261 (GRCm38)	V517A	probably benign	Het
Adck5	A	T	15: 76,594,687 (GRCm38)	K370N	possibly damaging	Het
Akap6	A	C	12: 53,025,792 (GRCm38)	D981A	probably damaging	Het
Apbb1	G	A	7: 105,574,252 (GRCm38)	R51*	probably null	Het
Arhgap23	A	G	11: 97,500,412 (GRCm38)	M1252V	probably benign	Het
Arhgef1	A	G	7: 24,917,942 (GRCm38)	T354A	probably benign	Het
Arid1a	G	T	4: 133,684,976 (GRCm38)	Q1636K	unknown	Het
Asmt	C	T	X: 170,676,467 (GRCm38)	A237V	possibly damaging	Het
Brat1	T	A	5: 140,705,961 (GRCm38)	C43S	probably benign	Het
Cd36	T	C	5: 17,795,595 (GRCm38)	Y370C	probably damaging	Het
Ceacam12	A	T	7: 18,069,105 (GRCm38)	L145F	probably benign	Het
Col24a1	C	T	3: 145,314,054 (GRCm38)	T62I	probably damaging	Het
Col6a3	G	T	1: 90,813,753 (GRCm38)	N652K	possibly damaging	Het
Dcbld1	T	C	10: 52,304,660 (GRCm38)	L140P	probably damaging	Het
Dhrs13	G	A	11: 78,036,982 (GRCm38)	C218Y	probably damaging	Het
Diaph1	T	G	18: 37,853,353 (GRCm38)	E1158A	probably damaging	Het
Emp2	A	C	16: 10,292,281 (GRCm38)	F20C	probably damaging	Het
Enpep	T	C	3: 129,332,418 (GRCm38)	I22V	possibly damaging	Het
Epha2	A	G	4: 141,318,480 (GRCm38)		probably null	Het
Eprs	G	T	1: 185,407,754 (GRCm38)		probably null	Het
Etl4	T	A	2: 20,713,360 (GRCm38)	I304N	probably damaging	Het
Exoc3l2	C	A	7: 19,491,745 (GRCm38)	S89*	probably null	Het
F5	A	T	1: 164,181,635 (GRCm38)	I325F	probably damaging	Het
F5	G	A	1: 164,190,187 (GRCm38)	C611Y	probably damaging	Het
Fam133b	A	T	5: 3,559,133 (GRCm38)	S116C	probably null	Het
Fam13b	A	T	18: 34,494,277 (GRCm38)	D190E	probably damaging	Het
Fam169a	T	G	13: 97,093,630 (GRCm38)	Y58D	probably damaging	Het
Far1	G	A	7: 113,561,396 (GRCm38)	R383H	possibly damaging	Het
Fnbp1l	T	C	3: 122,570,930 (GRCm38)	K52R	possibly damaging	Het
Foxj3	C	A	4: 119,623,271 (GRCm38)	Q469K	unknown	Het
Frs3	A	T	17: 47,689,088 (GRCm38)		probably benign	Het
Gdpd3	A	G	7: 126,775,502 (GRCm38)	S290G	probably benign	Het
Gm6768	T	G	12: 119,261,106 (GRCm38)		noncoding transcript	Het
Gmip	T	A	8: 69,817,085 (GRCm38)	L610Q	probably damaging	Het
Gprc5c	T	A	11: 114,864,025 (GRCm38)	I176N	probably damaging	Het
Grm3	A	G	5: 9,511,556 (GRCm38)	F765L	probably damaging	Het
Hhat	A	T	1: 192,759,757 (GRCm38)	L2Q	probably damaging	Het
Hrasls5	C	T	19: 7,619,291 (GRCm38)	P148S	probably damaging	Het
Hspbap1	T	C	16: 35,817,222 (GRCm38)	S214P	probably damaging	Het
Ighv1-62-3	C	A	12: 115,461,289 (GRCm38)	V21F	probably damaging	Het
Kcnj15	A	T	16: 95,295,668 (GRCm38)	K50*	probably null	Het
Kidins220	T	C	12: 25,056,909 (GRCm38)	S1454P	possibly damaging	Het
Kl	T	A	5: 150,988,853 (GRCm38)	M689K	possibly damaging	Het
Klhl23	T	G	2: 69,824,854 (GRCm38)	L356R	probably damaging	Het
Kndc1	A	T	7: 139,921,213 (GRCm38)	D806V	probably benign	Het
Krt26	T	C	11: 99,337,489 (GRCm38)	E139G	probably benign	Het
Lefty1	T	C	1: 180,935,116 (GRCm38)	F3L	unknown	Het
Madd	A	C	2: 91,165,457 (GRCm38)	Y853*	probably null	Het
Map1a	T	A	2: 121,289,823 (GRCm38)	D63E	probably benign	Het
Mdn1	T	A	4: 32,684,735 (GRCm38)	V815E	probably damaging	Het
Mettl3	A	G	14: 52,295,020 (GRCm38)	Y569H	probably damaging	Het
Mpp3	C	A	11: 102,008,566 (GRCm38)	R376S	probably benign	Het
Nup160	T	A	2: 90,690,105 (GRCm38)	Y293*	probably null	Het
Nupl1	A	T	14: 60,244,616 (GRCm38)	F100I	possibly damaging	Het
Nxpe2	A	C	9: 48,326,191 (GRCm38)	L255V	probably benign	Het
Olfr1423	T	C	19: 12,036,736 (GRCm38)	E2G	probably benign	Het
Olfr167	A	T	16: 19,515,531 (GRCm38)	L35Q	probably damaging	Het
Olfr390	T	A	11: 73,787,695 (GRCm38)	Y252*	probably null	Het
Olfr479	A	G	7: 108,055,899 (GRCm38)	I306V	probably benign	Het
Padi3	A	T	4: 140,796,394 (GRCm38)	D248E	probably damaging	Het
Paxip1	G	T	5: 27,761,618 (GRCm38)	H637N	probably damaging	Het
Pde4b	T	A	4: 102,601,551 (GRCm38)	M296K	probably damaging	Het
Pkd1	A	G	17: 24,575,606 (GRCm38)	H2089R	probably benign	Het
Prpf40a	T	C	2: 53,157,915 (GRCm38)	M197V	probably benign	Het
Rhebl1	T	C	15: 98,878,279 (GRCm38)	I165V	probably benign	Het
Rock1	A	T	18: 10,106,426 (GRCm38)	V481E	possibly damaging	Het
Rtca	T	A	3: 116,507,827 (GRCm38)	T24S	probably benign	Het
Serpina3c	T	A	12: 104,152,068 (GRCm38)	I4F	possibly damaging	Het
Serpina3j	C	A	12: 104,317,390 (GRCm38)	A249E	possibly damaging	Het
Slc38a9	A	G	13: 112,689,376 (GRCm38)	N116S	probably damaging	Het
Slco2b1	C	T	7: 99,690,563 (GRCm38)	V58I	possibly damaging	Het
Slfn8	T	A	11: 83,017,321 (GRCm38)	Y132F	probably damaging	Het
Smg6	T	G	11: 75,156,207 (GRCm38)	I1242S	probably damaging	Het
Tap2	G	T	17: 34,212,047 (GRCm38)	V374L	probably benign	Het
Tbc1d10b	G	A	7: 127,207,996 (GRCm38)	T123M	probably damaging	Het
Tenm2	A	C	11: 36,008,783 (GRCm38)	V2516G	probably damaging	Het
Tenm3	C	T	8: 48,395,573 (GRCm38)	R12Q	probably damaging	Het
Tmem130	T	A	5: 144,737,851 (GRCm38)	M355L	probably benign	Het
Tns4	C	T	11: 99,075,550 (GRCm38)	S433N	probably benign	Het
Traip	G	T	9: 107,970,619 (GRCm38)		probably null	Het
Trmo	G	A	4: 46,389,390 (GRCm38)	R2C	probably damaging	Het
Ttn	A	T	2: 76,944,160 (GRCm38)	I2134N	probably damaging	Het
Uba1y	A	G	Y: 825,984 (GRCm38)	D380G	probably benign	Het
Ube2t	T	A	1: 134,967,960 (GRCm38)		probably null	Het
Ugdh	A	T	5: 65,417,581 (GRCm38)	Y367*	probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm38)	D331A	probably damaging	Het
Vmn1r84	G	T	7: 12,361,914 (GRCm38)	T284K	possibly damaging	Het
Vmn1r91	T	A	7: 20,101,435 (GRCm38)	F93Y	probably benign	Het
Vmn2r77	T	A	7: 86,801,670 (GRCm38)	Y255N	probably benign	Het
Vmn2r96	A	T	17: 18,583,959 (GRCm38)	Q490H	probably benign	Het
Vwa2	A	G	19: 56,903,465 (GRCm38)		probably null	Het
Vwf	A	G	6: 125,657,065 (GRCm38)	K169E	unknown	Het
Zc3h7b	G	C	15: 81,778,710 (GRCm38)		probably null	Het
Zfp458	T	A	13: 67,257,598 (GRCm38)	H259L	possibly damaging	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het
Zfp804b	A	G	5: 6,769,910 (GRCm38)	V1051A	probably benign	Het

Other mutations in Mknk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Mknk2	APN	10	80,667,664 (GRCm38)	splice site	probably benign
IGL02471:Mknk2	APN	10	80,668,121 (GRCm38)	missense	probably damaging	0.99
IGL02643:Mknk2	APN	10	80,668,601 (GRCm38)	missense	probably damaging	1.00
H8562:Mknk2	UTSW	10	80,668,934 (GRCm38)	splice site	probably benign
IGL03052:Mknk2	UTSW	10	80,669,662 (GRCm38)	missense	probably benign	0.12
R0645:Mknk2	UTSW	10	80,671,908 (GRCm38)	splice site	probably null
R2061:Mknk2	UTSW	10	80,671,557 (GRCm38)	critical splice donor site	probably null
R2105:Mknk2	UTSW	10	80,668,601 (GRCm38)	missense	possibly damaging	0.90
R2167:Mknk2	UTSW	10	80,668,701 (GRCm38)	missense	probably damaging	1.00
R3847:Mknk2	UTSW	10	80,667,975 (GRCm38)	nonsense	probably null
R4649:Mknk2	UTSW	10	80,669,339 (GRCm38)	missense	probably damaging	1.00
R5062:Mknk2	UTSW	10	80,671,769 (GRCm38)	missense	probably damaging	1.00
R5358:Mknk2	UTSW	10	80,671,763 (GRCm38)	missense	probably benign	0.19
R5433:Mknk2	UTSW	10	80,667,225 (GRCm38)	missense	probably benign	0.00
R5518:Mknk2	UTSW	10	80,668,641 (GRCm38)	missense	possibly damaging	0.92
R5813:Mknk2	UTSW	10	80,675,862 (GRCm38)	missense	probably benign	0.34
R6060:Mknk2	UTSW	10	80,671,634 (GRCm38)	missense	probably benign	0.00
R6366:Mknk2	UTSW	10	80,671,933 (GRCm38)	missense	probably damaging	0.99
R7640:Mknk2	UTSW	10	80,668,566 (GRCm38)	missense	probably benign	0.00
R7827:Mknk2	UTSW	10	80,667,187 (GRCm38)	missense	probably benign	0.03
R7943:Mknk2	UTSW	10	80,675,867 (GRCm38)	missense	probably benign	0.00
R8075:Mknk2	UTSW	10	80,672,148 (GRCm38)	intron	probably benign
R9114:Mknk2	UTSW	10	80,668,989 (GRCm38)	missense	probably damaging	1.00
R9140:Mknk2	UTSW	10	80,671,593 (GRCm38)	missense	probably benign	0.22
R9451:Mknk2	UTSW	10	80,669,662 (GRCm38)	missense	probably benign	0.12
R9506:Mknk2	UTSW	10	80,668,084 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGCTAAGCGGAAGGCCAAG -3'
(R):5'- CTGGTTGCTTTAGAGGTACCC -3'

Sequencing Primer
(F):5'- GCTGGCAGGGGAAAGCTG -3'
(R):5'- GGTACCCACCCCTAACCTC -3'

Posted On

2017-10-10