Mutagenetix > Incidental Mutation

Incidental Mutation 'R2061:Mknk2'

332093

Institutional Source

Beutler Lab

Gene Symbol

Mknk2

Ensembl Gene

ENSMUSG00000020190

Gene Name

MAP kinase-interacting serine/threonine kinase 2

Synonyms

Mnk2

MMRRC Submission

040066-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2061 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

80665327-80678112 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 80671557 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143508 (fasta)

Gene Model

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

AlphaFold

Q8CDB0

Predicted Effect

probably null
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 null
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 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: 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 null
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

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (124/125)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	C	9: 103,268,314	M395V	probably benign	Het
2610507B11Rik	T	A	11: 78,268,749	C541*	probably null	Het
9130011E15Rik	C	T	19: 45,978,667	R12Q	probably damaging	Het
A4gnt	T	C	9: 99,620,359	S191P	probably damaging	Het
AI314180	G	T	4: 58,824,270	P1116T	probably damaging	Het
Ak2	C	T	4: 129,008,197	A221V	probably damaging	Het
Akap9	T	A	5: 3,961,010	V571E	probably damaging	Het
Amph	G	T	13: 19,125,035	E428*	probably null	Het
Arnt2	T	A	7: 84,343,870	D154V	probably damaging	Het
Arrdc1	G	A	2: 24,926,352	Q202*	probably null	Het
Ate1	A	G	7: 130,510,913	C72R	probably damaging	Het
Atox1	A	G	11: 55,454,898	V22A	possibly damaging	Het
Bbs12	A	T	3: 37,319,066	M3L	probably damaging	Het
BC067074	T	A	13: 113,318,094	W225R	probably damaging	Het
Bfsp1	A	G	2: 143,862,678	V85A	probably benign	Het
Caskin2	C	A	11: 115,803,630	V382F	probably benign	Het
Ccdc39	T	A	3: 33,819,896	M596L	probably damaging	Het
Cd22	C	T	7: 30,870,105	V529M	probably damaging	Het
Cd22	A	C	7: 30,876,156	Y154D	probably benign	Het
Cdadc1	T	A	14: 59,581,334	E348D	probably damaging	Het
Cdhr2	T	C	13: 54,720,818	V531A	probably damaging	Het
Cdk11b	A	G	4: 155,641,604		probably benign	Het
Cebpa	G	T	7: 35,119,522	R35L	probably damaging	Het
Chat	T	C	14: 32,446,873	N235S	probably benign	Het
Col12a1	T	A	9: 79,617,705	I2725F	possibly damaging	Het
Cracr2b	A	G	7: 141,465,280	E231G	probably damaging	Het
Cryaa	G	T	17: 31,681,055	A151S	probably benign	Het
Dab1	A	T	4: 104,678,741	I116F	probably damaging	Het
Ddx43	C	A	9: 78,396,104	N75K	probably benign	Het
Dmbt1	T	G	7: 131,099,133	C1014G	possibly damaging	Het
Dner	C	A	1: 84,405,989	C558F	probably damaging	Het
Dsc2	A	G	18: 20,032,399	V839A	possibly damaging	Het
Dsg3	C	T	18: 20,527,737	R378*	probably null	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Epha6	T	C	16: 59,655,797	M1069V	probably damaging	Het
F930017D23Rik	A	C	10: 43,604,420		noncoding transcript	Het
Faf1	A	T	4: 109,710,808	N22Y	probably damaging	Het
Flrt3	A	T	2: 140,661,453	V85E	probably damaging	Het
Gadl1	T	A	9: 115,941,380	I87N	probably damaging	Het
Galnt14	A	G	17: 73,512,153	F314S	probably damaging	Het
Gba2	A	T	4: 43,574,029	Y141*	probably null	Het
Gdap1	A	T	1: 17,145,465		probably benign	Het
Gfod1	A	T	13: 43,303,243		probably null	Het
Gm14295	C	T	2: 176,810,681	R655*	probably null	Het
Gm4353	A	G	7: 116,083,699	S216P	probably damaging	Het
Gm6605	T	A	7: 38,448,282		noncoding transcript	Het
Hectd1	A	T	12: 51,794,444	D634E	probably damaging	Het
Helz2	A	G	2: 181,240,544	I152T	probably damaging	Het
Hivep1	A	G	13: 42,160,124	K1947E	possibly damaging	Het
Ifrd1	A	T	12: 40,213,245	F144L	probably benign	Het
Itgae	A	T	11: 73,118,622	Q544L	probably benign	Het
Jmjd1c	A	T	10: 67,218,426	E323D	probably damaging	Het
Kdm5a	G	T	6: 120,381,617	R207L	probably benign	Het
Kif5b	C	T	18: 6,226,377		probably null	Het
Lbp	T	C	2: 158,324,579	V351A	probably benign	Het
Lss	A	T	10: 76,546,098		probably null	Het
Madd	A	C	2: 91,161,486		probably benign	Het
Map6	G	A	7: 99,317,472	V503I	probably damaging	Het
Mark1	A	G	1: 184,928,063	L22P	probably damaging	Het
Mcfd2	T	C	17: 87,255,976	N130D	probably damaging	Het
Mcm3ap	A	G	10: 76,470,068	N5S	probably benign	Het
Mdm4	A	T	1: 133,012,651	F48I	probably damaging	Het
Mga	A	T	2: 119,964,980		probably benign	Het
Mmp15	T	C	8: 95,370,779	Y459H	possibly damaging	Het
Mthfd1l	A	G	10: 4,103,288	K879R	probably benign	Het
Mycbp2	T	C	14: 103,287,260	K655E	probably damaging	Het
Nasp	T	C	4: 116,611,126	N221D	probably benign	Het
Ndc80	T	C	17: 71,514,218	E245G	probably benign	Het
Nmral1	C	T	16: 4,716,329	E83K	probably damaging	Het
Noa1	T	A	5: 77,304,187	Q550L	possibly damaging	Het
Nutm1	A	T	2: 112,255,752	Y211*	probably null	Het
Olfr1420	T	A	19: 11,896,557	Y179N	probably damaging	Het
Olfr1474	A	G	19: 13,471,241	I90M	probably damaging	Het
Olfr148	G	T	9: 39,613,775	M69I	probably benign	Het
Olfr700	A	C	7: 106,805,768	H231Q	probably benign	Het
Olfr723	T	C	14: 49,929,021	I174M	possibly damaging	Het
Otoa	T	C	7: 121,131,328	F584L	probably damaging	Het
Palb2	G	A	7: 122,124,525	T304I	possibly damaging	Het
Pcolce2	A	T	9: 95,670,176	M121L	probably benign	Het
Pcsk5	T	C	19: 17,454,872	T1460A	probably benign	Het
Pdzrn4	A	T	15: 92,770,160	D731V	probably damaging	Het
Pex11b	C	A	3: 96,635,721	Q12K	possibly damaging	Het
Pigw	G	C	11: 84,877,310	Q398E	probably benign	Het
Pkd1	A	G	17: 24,569,914	E882G	possibly damaging	Het
Pkhd1	A	T	1: 20,612,812	N55K	possibly damaging	Het
Plch2	A	T	4: 155,042,841		probably benign	Het
Plcl1	T	A	1: 55,751,345	L1058Q	probably benign	Het
Ppfia2	T	C	10: 106,837,329	S511P	possibly damaging	Het
Ppfibp2	T	C	7: 107,739,230	L676P	probably damaging	Het
Ppp6c	T	G	2: 39,226,174	D23A	probably damaging	Het
Pqlc1	G	T	18: 80,291,715	A232S	probably benign	Het
Prss30	G	A	17: 23,974,668		probably benign	Het
Ptprz1	T	C	6: 23,049,675		probably null	Het
Rec114	T	A	9: 58,652,905		probably benign	Het
Ryr2	T	C	13: 11,665,878		probably null	Het
Ryr3	A	T	2: 112,663,004	I3715N	possibly damaging	Het
Scin	T	C	12: 40,080,948	Y322C	probably damaging	Het
Scn3a	A	G	2: 65,461,308	V1698A	probably damaging	Het
Scn5a	G	A	9: 119,485,651	S1996L	probably damaging	Het
Serpinb2	A	G	1: 107,522,795	K174R	possibly damaging	Het
Slc16a4	T	C	3: 107,300,711	I179T	probably benign	Het
Slc35b1	T	G	11: 95,385,892	F102V	possibly damaging	Het
Slc6a15	A	G	10: 103,409,734	D526G	probably benign	Het
Spata16	A	G	3: 26,924,370	D495G	probably damaging	Het
Stk11ip	G	A	1: 75,529,584	E583K	possibly damaging	Het
Stk-ps1	T	G	17: 36,398,152		noncoding transcript	Het
Sufu	T	A	19: 46,397,212	I37N	probably damaging	Het
Tacr1	C	T	6: 82,492,554	P140S	probably damaging	Het
Tas1r3	G	A	4: 155,860,470	R765C	probably damaging	Het
Tenm3	C	T	8: 48,342,256		probably null	Het
Tex36	A	T	7: 133,595,223	I55N	probably damaging	Het
Tmem150c	T	C	5: 100,080,028	Y192C	probably damaging	Het
Tmem237	A	G	1: 59,120,286		probably benign	Het
Trim11	A	G	11: 58,982,063	E191G	probably damaging	Het
Ttll3	C	T	6: 113,409,042	A612V	possibly damaging	Het
Ttn	G	A	2: 76,977,122	A89V	probably damaging	Het
Usp37	A	G	1: 74,468,272	F529L	probably damaging	Het
Vmn1r217	A	C	13: 23,114,528	V68G	probably benign	Het
Vwf	T	C	6: 125,591,188	S349P	probably damaging	Het
Wt1	G	A	2: 105,131,157		probably null	Het
Zcchc7	T	A	4: 44,895,838	L262H	probably damaging	Het
Zfp873	A	G	10: 82,060,157	S241G	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
H8562:Mknk2	UTSW	10	80668934	splice site	probably benign
IGL03052:Mknk2	UTSW	10	80669662	missense	probably benign	0.12
R0645:Mknk2	UTSW	10	80671908	splice 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'- AAGTTTCCAGTTCTTGATAGCCAC -3'
(R):5'- TTCGAAGGTGAGCTGCAGAG -3'

Sequencing Primer
(F):5'- CAGTTCTTGATAGCCACGCTAGG -3'
(R):5'- GTGAGCTGCAGAGAGCTG -3'

Posted On

2015-07-30