Mutagenetix > Incidental Mutation

Incidental Mutation 'R9140:Mknk2'

694301

Institutional Source

Beutler Lab

Gene Symbol

Mknk2

Ensembl Gene

ENSMUSG00000020190

Gene Name

MAP kinase-interacting serine/threonine kinase 2

Synonyms

Mnk2, 2010016G11Rik

MMRRC Submission

068972-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80501152-80512264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80507427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 102 (V102A)

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
AA Change: V55A

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000003433
Gene: ENSMUSG00000020190
AA Change: V55A

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
AA Change: V90A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000143679
Gene: ENSMUSG00000020190
AA Change: V90A

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
AA Change: V102A

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143508
Gene: ENSMUSG00000020190
AA Change: V102A

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	A	T	17: 33,652,170 (GRCm39)	I77F	possibly damaging	Het
Adgb	G	A	10: 10,216,263 (GRCm39)	R1509*	probably null	Het
Ago1	C	A	4: 126,336,977 (GRCm39)	V547L	probably benign	Het
Arhgap21	T	A	2: 20,886,025 (GRCm39)	Y394F	probably damaging	Het
C1qa	A	C	4: 136,623,553 (GRCm39)	I217S	probably damaging	Het
Cacna1b	T	A	2: 24,525,224 (GRCm39)	I1651F	probably damaging	Het
Car8	T	C	4: 8,183,270 (GRCm39)	T242A	probably benign	Het
Ccdc121rt3	A	T	5: 112,502,723 (GRCm39)	L327Q	probably damaging	Het
Ccn4	G	A	15: 66,791,157 (GRCm39)	V320M	probably damaging	Het
Chrnb4	G	A	9: 54,941,955 (GRCm39)	H440Y		Het
Cic	T	C	7: 24,985,165 (GRCm39)	V1137A	probably damaging	Het
Ctdp1	C	T	18: 80,484,043 (GRCm39)		probably null	Het
Cyp3a16	G	C	5: 145,406,434 (GRCm39)	A6G	unknown	Het
Ddhd1	A	C	14: 45,894,918 (GRCm39)	L184R	probably benign	Het
Dnttip1	A	G	2: 164,596,082 (GRCm39)	D109G	possibly damaging	Het
Dsc3	T	A	18: 20,122,616 (GRCm39)	M103L	probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Elapor2	T	C	5: 9,449,226 (GRCm39)	V118A	probably benign	Het
Eya2	T	C	2: 165,608,977 (GRCm39)	L439S	probably damaging	Het
Eya3	A	G	4: 132,428,411 (GRCm39)	N311S	possibly damaging	Het
Fam151a	C	T	4: 106,605,344 (GRCm39)	R569*	probably null	Het
Fer1l5	A	G	1: 36,460,047 (GRCm39)		probably benign	Het
Fnbp4	A	G	2: 90,576,077 (GRCm39)	T93A	unknown	Het
Fosl2	T	C	5: 32,310,042 (GRCm39)	S164P	probably damaging	Het
Galc	T	C	12: 98,173,673 (GRCm39)	T630A	probably null	Het
Gm5916	G	T	9: 36,031,982 (GRCm39)	Q101K	unknown	Het
Gm7138	A	T	10: 77,612,682 (GRCm39)		probably benign	Het
Habp2	A	G	19: 56,307,934 (GRCm39)	K474R	probably benign	Het
Ibtk	A	G	9: 85,617,114 (GRCm39)	F153L	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Kirrel3	C	T	9: 34,924,596 (GRCm39)	A268V	probably benign	Het
Kprp	G	T	3: 92,732,458 (GRCm39)	Y197*	probably null	Het
Kri1	C	T	9: 21,187,434 (GRCm39)	R471H		Het
Krt17	C	A	11: 100,148,476 (GRCm39)	A322S	possibly damaging	Het
Leng9	A	T	7: 4,152,657 (GRCm39)	D6E	probably benign	Het
Macf1	A	T	4: 123,367,855 (GRCm39)	I2302K	possibly damaging	Het
Manba	G	A	3: 135,191,490 (GRCm39)	V17M	probably benign	Het
Mical2	A	G	7: 112,006,826 (GRCm39)	K582E	probably damaging	Het
Myh1	G	A	11: 67,100,089 (GRCm39)	G636D	probably benign	Het
Or51q1c	A	G	7: 103,653,322 (GRCm39)	N280S	probably damaging	Het
P2rx7	G	A	5: 122,790,789 (GRCm39)		probably null	Het
Pcmt1	A	G	10: 7,514,678 (GRCm39)	*177R	probably null	Het
Pla2r1	T	C	2: 60,271,455 (GRCm39)	K959R	probably benign	Het
Plat	A	G	8: 23,270,562 (GRCm39)	D493G	probably damaging	Het
Prr30	A	G	14: 101,436,430 (GRCm39)	L44P	probably benign	Het
Ptx4	T	C	17: 25,344,180 (GRCm39)	C477R	probably damaging	Het
Pus10	A	G	11: 23,622,625 (GRCm39)	S82G	probably benign	Het
Pygo1	A	G	9: 72,852,988 (GRCm39)	T392A	probably benign	Het
Rad54b	C	A	4: 11,610,386 (GRCm39)	L668I	probably damaging	Het
Rdh19	A	C	10: 127,692,830 (GRCm39)	M166L		Het
Retnlg	C	A	16: 48,693,288 (GRCm39)	Q22K	possibly damaging	Het
Rfc3	G	T	5: 151,568,141 (GRCm39)	T249K	probably benign	Het
Rgs16	T	A	1: 153,619,381 (GRCm39)	V129E	probably damaging	Het
Rptn	T	A	3: 93,303,445 (GRCm39)	Y259*	probably null	Het
Sema6a	T	C	18: 47,415,009 (GRCm39)	N427S	probably benign	Het
Slc7a13	T	C	4: 19,819,487 (GRCm39)	I229T	possibly damaging	Het
Slitrk3	A	T	3: 72,957,792 (GRCm39)	Y327N	probably benign	Het
Smtnl2	A	G	11: 72,290,793 (GRCm39)	L384P	probably damaging	Het
Stil	G	T	4: 114,864,449 (GRCm39)	V117F	probably damaging	Het
Tada1	T	C	1: 166,216,177 (GRCm39)	V126A	probably benign	Het
Tasor2	G	A	13: 3,638,441 (GRCm39)	T430I	probably benign	Het
Tmem30c	T	C	16: 57,090,482 (GRCm39)	I242V	probably damaging	Het
Tnnt2	T	A	1: 135,768,635 (GRCm39)	V8E		Het
Ttn	A	G	2: 76,774,240 (GRCm39)	V2268A	unknown	Het
Uspl1	G	T	5: 149,150,290 (GRCm39)	A497S	possibly damaging	Het
Vmn2r1	A	T	3: 63,997,465 (GRCm39)	N374Y	probably benign	Het
Vmn2r27	A	G	6: 124,169,207 (GRCm39)	F641S	probably damaging	Het
Vmn2r52	T	A	7: 9,892,643 (GRCm39)	Y832F	probably damaging	Het
Zfp748	C	T	13: 67,689,073 (GRCm39)	C729Y	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
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
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'- TCCAGTTCTTGATAGCCACGC -3'
(R):5'- ACAGCTTCTCAGGCAGGTTC -3'

Sequencing Primer
(F):5'- ATCAAGGGCCAGCTGTCATTG -3'
(R):5'- CTTCTCAGGCAGGTTCGAAGG -3'

Posted On

2022-01-20