Mutagenetix > Incidental Mutation

Incidental Mutation 'R0108:Lmtk2'

17653

Institutional Source

Beutler Lab

Gene Symbol

Lmtk2

Ensembl Gene

ENSMUSG00000038970

Gene Name

lemur tyrosine kinase 2

Synonyms

BREK, AATYK2, A330101P12Rik, KPI2, KPI-2, 2900041G10Rik, cprk

MMRRC Submission

038394-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

R0108 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

144037254-144125022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 144111103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 608 (R608C)

Ref Sequence

ENSEMBL: ENSMUSP00000048238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041804]

AlphaFold

Q3TYD6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041804
AA Change: R608C

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048238
Gene: ENSMUSG00000038970
AA Change: R608C

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
transmembrane domain	42	61	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC
STYKc	136	406	3.4e-39	SMART
low complexity region	924	953	N/A	INTRINSIC
low complexity region	1019	1035	N/A	INTRINSIC
low complexity region	1104	1117	N/A	INTRINSIC
low complexity region	1168	1180	N/A	INTRINSIC
low complexity region	1252	1266	N/A	INTRINSIC
low complexity region	1354	1367	N/A	INTRINSIC
low complexity region	1380	1392	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 87.1%
3x: 81.7%
10x: 58.7%
20x: 25.7%

Validation Efficiency

90% (92/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null mutation in this gene display partial prenatal lethality, male infertility, and azoospermia. [provided by MGI curators]

Allele List at MGI

All alleles(31) : Targeted, knock-out(1) Gene trapped(30)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,224,692 (GRCm39)	N910K	probably benign	Het
Ackr4	T	A	9: 103,976,387 (GRCm39)	I187F	probably benign	Het
Adamts12	T	C	15: 11,311,184 (GRCm39)	V1147A	probably benign	Het
Adcy2	A	T	13: 68,800,054 (GRCm39)	V858E	probably damaging	Het
Adgrv1	A	G	13: 81,726,523 (GRCm39)		probably benign	Het
Atg4c	C	T	4: 99,109,677 (GRCm39)	H215Y	possibly damaging	Het
Ccdc88a	T	A	11: 29,453,463 (GRCm39)	S337T	probably damaging	Het
Evpl	T	C	11: 116,111,702 (GRCm39)	E1996G	probably damaging	Het
Fbxw10	A	G	11: 62,767,887 (GRCm39)	T903A	probably benign	Het
Frem2	G	T	3: 53,555,382 (GRCm39)	D1718E	probably benign	Het
Gatad2b	T	A	3: 90,265,250 (GRCm39)	Y576N	probably damaging	Het
Gm136	G	T	4: 34,746,593 (GRCm39)	H139Q	possibly damaging	Het
Helq	C	A	5: 100,916,234 (GRCm39)	E913*	probably null	Het
Itgb7	C	T	15: 102,131,917 (GRCm39)	R222H	probably damaging	Het
Lonp2	G	A	8: 87,442,983 (GRCm39)	V815I	probably benign	Het
Mpdz	C	T	4: 81,300,042 (GRCm39)	V319I	probably damaging	Het
Ntng1	T	C	3: 109,759,071 (GRCm39)		probably benign	Het
Nup210l	A	G	3: 90,096,882 (GRCm39)	T1364A	probably damaging	Het
Or10q1b	A	T	19: 13,683,042 (GRCm39)	T284S	probably damaging	Het
Pcdha1	T	A	18: 37,131,809 (GRCm39)	W293R	probably benign	Het
Plcl1	A	G	1: 55,737,098 (GRCm39)	Y813C	possibly damaging	Het
Plekho2	A	T	9: 65,466,705 (GRCm39)	D128E	probably damaging	Het
Pstpip1	A	G	9: 56,035,050 (GRCm39)	E341G	probably benign	Het
Rps6ka2	G	A	17: 7,563,442 (GRCm39)	D617N	probably benign	Het
Scin	A	G	12: 40,177,986 (GRCm39)	V83A	possibly damaging	Het
Sec11a	A	G	7: 80,584,787 (GRCm39)	V50A	probably damaging	Het
Sel1l3	C	T	5: 53,295,244 (GRCm39)	A786T	possibly damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc30a5	G	T	13: 100,939,908 (GRCm39)	A669E	probably damaging	Het
Tm6sf1	G	A	7: 81,515,093 (GRCm39)		probably null	Het
Ttll4	G	T	1: 74,718,928 (GRCm39)	V260L	probably benign	Het
Zfand3	A	G	17: 30,354,372 (GRCm39)	E63G	probably damaging	Het

Other mutations in Lmtk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Lmtk2	APN	5	144,070,973 (GRCm39)	missense	probably damaging	1.00
IGL00496:Lmtk2	APN	5	144,111,512 (GRCm39)	missense	probably benign
IGL00848:Lmtk2	APN	5	144,113,216 (GRCm39)	missense	probably benign
IGL01450:Lmtk2	APN	5	144,111,520 (GRCm39)	missense	probably benign	0.03
IGL01833:Lmtk2	APN	5	144,112,753 (GRCm39)	nonsense	probably null
IGL01967:Lmtk2	APN	5	144,119,597 (GRCm39)	missense	probably benign
IGL01998:Lmtk2	APN	5	144,112,883 (GRCm39)	missense	probably damaging	1.00
IGL02106:Lmtk2	APN	5	144,112,769 (GRCm39)	missense	probably benign	0.03
IGL02147:Lmtk2	APN	5	144,093,754 (GRCm39)	missense	possibly damaging	0.78
IGL02581:Lmtk2	APN	5	144,085,166 (GRCm39)	missense	probably damaging	1.00
madagascar	UTSW	5	144,111,737 (GRCm39)	missense	probably benign	0.02
A4554:Lmtk2	UTSW	5	144,103,135 (GRCm39)	missense	possibly damaging	0.82
R0039:Lmtk2	UTSW	5	144,103,205 (GRCm39)	missense	probably damaging	1.00
R0039:Lmtk2	UTSW	5	144,103,205 (GRCm39)	missense	probably damaging	1.00
R0367:Lmtk2	UTSW	5	144,111,103 (GRCm39)	missense	possibly damaging	0.78
R0515:Lmtk2	UTSW	5	144,111,809 (GRCm39)	missense	possibly damaging	0.77
R1434:Lmtk2	UTSW	5	144,111,407 (GRCm39)	missense	probably damaging	1.00
R1617:Lmtk2	UTSW	5	144,110,680 (GRCm39)	missense	probably damaging	1.00
R1760:Lmtk2	UTSW	5	144,110,993 (GRCm39)	missense	probably damaging	0.99
R1785:Lmtk2	UTSW	5	144,111,806 (GRCm39)	missense	possibly damaging	0.61
R1786:Lmtk2	UTSW	5	144,111,806 (GRCm39)	missense	possibly damaging	0.61
R1907:Lmtk2	UTSW	5	144,111,928 (GRCm39)	missense	probably benign	0.00
R2130:Lmtk2	UTSW	5	144,111,806 (GRCm39)	missense	possibly damaging	0.61
R2131:Lmtk2	UTSW	5	144,111,806 (GRCm39)	missense	possibly damaging	0.61
R2132:Lmtk2	UTSW	5	144,111,806 (GRCm39)	missense	possibly damaging	0.61
R2133:Lmtk2	UTSW	5	144,111,806 (GRCm39)	missense	possibly damaging	0.61
R2140:Lmtk2	UTSW	5	144,084,433 (GRCm39)	missense	probably damaging	1.00
R2141:Lmtk2	UTSW	5	144,084,433 (GRCm39)	missense	probably damaging	1.00
R2210:Lmtk2	UTSW	5	144,084,427 (GRCm39)	missense	probably damaging	1.00
R2289:Lmtk2	UTSW	5	144,112,924 (GRCm39)	missense	possibly damaging	0.80
R2312:Lmtk2	UTSW	5	144,110,444 (GRCm39)	missense	probably damaging	1.00
R2352:Lmtk2	UTSW	5	144,110,729 (GRCm39)	missense	probably benign	0.05
R3870:Lmtk2	UTSW	5	144,103,245 (GRCm39)	splice site	probably benign
R4011:Lmtk2	UTSW	5	144,112,697 (GRCm39)	missense	probably benign	0.01
R4272:Lmtk2	UTSW	5	144,120,044 (GRCm39)	missense	probably benign	0.05
R4361:Lmtk2	UTSW	5	144,084,482 (GRCm39)	missense	probably damaging	1.00
R4580:Lmtk2	UTSW	5	144,111,599 (GRCm39)	missense	possibly damaging	0.56
R4621:Lmtk2	UTSW	5	144,111,752 (GRCm39)	missense	probably benign	0.02
R4981:Lmtk2	UTSW	5	144,113,265 (GRCm39)	missense	probably damaging	1.00
R5818:Lmtk2	UTSW	5	144,093,718 (GRCm39)	missense	probably benign	0.07
R5984:Lmtk2	UTSW	5	144,111,656 (GRCm39)	missense	probably benign
R6083:Lmtk2	UTSW	5	144,119,574 (GRCm39)	missense	probably damaging	1.00
R6180:Lmtk2	UTSW	5	144,112,160 (GRCm39)	missense	probably damaging	1.00
R6411:Lmtk2	UTSW	5	144,111,404 (GRCm39)	missense	probably damaging	0.99
R6544:Lmtk2	UTSW	5	144,110,624 (GRCm39)	missense	possibly damaging	0.68
R6628:Lmtk2	UTSW	5	144,111,503 (GRCm39)	missense	probably benign	0.03
R6698:Lmtk2	UTSW	5	144,111,737 (GRCm39)	missense	probably benign	0.02
R6742:Lmtk2	UTSW	5	144,085,175 (GRCm39)	missense	probably damaging	1.00
R6763:Lmtk2	UTSW	5	144,110,615 (GRCm39)	missense	probably damaging	1.00
R7286:Lmtk2	UTSW	5	144,111,178 (GRCm39)	nonsense	probably null
R7390:Lmtk2	UTSW	5	144,066,261 (GRCm39)	missense	possibly damaging	0.79
R7594:Lmtk2	UTSW	5	144,110,564 (GRCm39)	missense	probably damaging	1.00
R7660:Lmtk2	UTSW	5	144,085,158 (GRCm39)	missense	probably damaging	1.00
R7785:Lmtk2	UTSW	5	144,111,571 (GRCm39)	missense	probably benign	0.00
R7977:Lmtk2	UTSW	5	144,111,959 (GRCm39)	missense	probably benign	0.02
R7987:Lmtk2	UTSW	5	144,111,959 (GRCm39)	missense	probably benign	0.02
R8089:Lmtk2	UTSW	5	144,093,718 (GRCm39)	missense	probably benign	0.07
R8138:Lmtk2	UTSW	5	144,112,415 (GRCm39)	missense	probably damaging	0.99
R8694:Lmtk2	UTSW	5	144,108,566 (GRCm39)	missense	probably damaging	1.00
R8714:Lmtk2	UTSW	5	144,112,876 (GRCm39)	missense	probably damaging	1.00
R8816:Lmtk2	UTSW	5	144,112,793 (GRCm39)	nonsense	probably null
R8845:Lmtk2	UTSW	5	144,110,704 (GRCm39)	missense	probably damaging	1.00
R8856:Lmtk2	UTSW	5	144,113,079 (GRCm39)	missense	probably damaging	1.00
R9306:Lmtk2	UTSW	5	144,119,599 (GRCm39)	missense	probably benign	0.17
R9494:Lmtk2	UTSW	5	144,037,338 (GRCm39)	start gained	probably benign
X0024:Lmtk2	UTSW	5	144,111,068 (GRCm39)	missense	probably benign	0.22
Z1088:Lmtk2	UTSW	5	144,119,669 (GRCm39)	missense	probably benign	0.12

Posted On

2013-01-31