Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01833:Lmtk2'

154849

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lmtk2

Ensembl Gene

ENSMUSG00000038970

Gene Name

lemur tyrosine kinase 2

Synonyms

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

Accession Numbers

Genbank: NM_001081109; MGI: 3036247

Is this an essential gene?

Possibly non essential (E-score: 0.305) question?

Stock #

IGL01833

Quality Score

Status

Chromosome

Chromosomal Location

144100436-144188204 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 144175935 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1158 (R1158*)

Ref Sequence

ENSEMBL: ENSMUSP00000048238 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000041804
AA Change: R1158*

SMART Domains

Protein: ENSMUSP00000048238
Gene: ENSMUSG00000038970
AA Change: R1158*

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

Coding Region Coverage

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	G	17: 56,881,062	N190S	probably benign	Het
Adamts18	T	A	8: 113,743,096	Y658F	probably benign	Het
Camsap3	T	A	8: 3,608,508	L1151Q	probably damaging	Het
Casp14	T	A	10: 78,715,403	Y16F	probably damaging	Het
Clip2	A	T	5: 134,498,084		probably benign	Het
Clip4	G	A	17: 71,827,790		probably benign	Het
Cyb5r4	G	A	9: 87,059,452		probably null	Het
Ep400	A	T	5: 110,680,008	N2329K	unknown	Het
Fam163a	T	A	1: 156,079,996	I17F	probably damaging	Het
Fam213b	G	T	4: 154,896,602		probably benign	Het
Galnt1	T	A	18: 24,267,560	I241N	probably damaging	Het
Galnt14	T	G	17: 73,504,904	I441L	probably benign	Het
Gpr45	T	C	1: 43,032,242	L15P	probably benign	Het
Hivep1	A	T	13: 42,154,988	K235*	probably null	Het
Kcnip2	T	C	19: 45,794,307		probably null	Het
Kpna3	T	C	14: 61,370,445	N437S	possibly damaging	Het
Lpo	A	G	11: 87,807,333	V612A	possibly damaging	Het
Myh15	T	C	16: 49,114,058	C663R	probably damaging	Het
Nacad	G	A	11: 6,605,700	R17C	unknown	Het
Olfr1351	A	T	10: 79,017,936	M205L	probably benign	Het
Pcsk2	A	G	2: 143,687,580	Q99R	possibly damaging	Het
Pkd1l2	T	C	8: 117,060,525	N593S	probably benign	Het
Plce1	G	A	19: 38,720,981	S1093N	probably damaging	Het
Rhpn2	T	A	7: 35,376,171	Y258N	probably benign	Het
Serpinb9d	T	C	13: 33,200,705	Y222H	probably damaging	Het
Shprh	T	C	10: 11,191,062	L1401P	probably damaging	Het
Slc5a7	A	G	17: 54,281,833	L262P	probably damaging	Het
Stat2	T	G	10: 128,281,176	F293V	probably benign	Het
Stpg4	T	A	17: 87,395,157		probably null	Het
Styk1	G	T	6: 131,302,366		probably benign	Het
Sult2a2	T	A	7: 13,734,796	D62E	probably damaging	Het
Sytl2	G	A	7: 90,396,537	V632M	probably damaging	Het
Themis	C	T	10: 28,782,311	Q445*	probably null	Het
Tmem225	A	T	9: 40,148,429	E35V	probably damaging	Het
Vmn1r48	T	A	6: 90,036,283	T187S	probably damaging	Het
Xpnpep1	A	G	19: 53,000,393	Y463H	probably damaging	Het

Other mutations in Lmtk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Lmtk2	APN	5	144134155	missense	probably damaging	1.00
IGL00496:Lmtk2	APN	5	144174694	missense	probably benign
IGL00848:Lmtk2	APN	5	144176398	missense	probably benign
IGL01450:Lmtk2	APN	5	144174702	missense	probably benign	0.03
IGL01967:Lmtk2	APN	5	144182779	missense	probably benign
IGL01998:Lmtk2	APN	5	144176065	missense	probably damaging	1.00
IGL02106:Lmtk2	APN	5	144175951	missense	probably benign	0.03
IGL02147:Lmtk2	APN	5	144156936	missense	possibly damaging	0.78
IGL02581:Lmtk2	APN	5	144148348	missense	probably damaging	1.00
A4554:Lmtk2	UTSW	5	144166317	missense	possibly damaging	0.82
R0039:Lmtk2	UTSW	5	144166387	missense	probably damaging	1.00
R0039:Lmtk2	UTSW	5	144166387	missense	probably damaging	1.00
R0108:Lmtk2	UTSW	5	144174285	missense	possibly damaging	0.78
R0367:Lmtk2	UTSW	5	144174285	missense	possibly damaging	0.78
R0515:Lmtk2	UTSW	5	144174991	missense	possibly damaging	0.77
R1434:Lmtk2	UTSW	5	144174589	missense	probably damaging	1.00
R1617:Lmtk2	UTSW	5	144173862	missense	probably damaging	1.00
R1760:Lmtk2	UTSW	5	144174175	missense	probably damaging	0.99
R1785:Lmtk2	UTSW	5	144174988	missense	possibly damaging	0.61
R1786:Lmtk2	UTSW	5	144174988	missense	possibly damaging	0.61
R1907:Lmtk2	UTSW	5	144175110	missense	probably benign	0.00
R2130:Lmtk2	UTSW	5	144174988	missense	possibly damaging	0.61
R2131:Lmtk2	UTSW	5	144174988	missense	possibly damaging	0.61
R2132:Lmtk2	UTSW	5	144174988	missense	possibly damaging	0.61
R2133:Lmtk2	UTSW	5	144174988	missense	possibly damaging	0.61
R2140:Lmtk2	UTSW	5	144147615	missense	probably damaging	1.00
R2141:Lmtk2	UTSW	5	144147615	missense	probably damaging	1.00
R2210:Lmtk2	UTSW	5	144147609	missense	probably damaging	1.00
R2289:Lmtk2	UTSW	5	144176106	missense	possibly damaging	0.80
R2312:Lmtk2	UTSW	5	144173626	missense	probably damaging	1.00
R2352:Lmtk2	UTSW	5	144173911	missense	probably benign	0.05
R3870:Lmtk2	UTSW	5	144166427	splice site	probably benign
R4011:Lmtk2	UTSW	5	144175879	missense	probably benign	0.01
R4272:Lmtk2	UTSW	5	144183226	missense	probably benign	0.05
R4361:Lmtk2	UTSW	5	144147664	missense	probably damaging	1.00
R4580:Lmtk2	UTSW	5	144174781	missense	possibly damaging	0.56
R4621:Lmtk2	UTSW	5	144174934	missense	probably benign	0.02
R4981:Lmtk2	UTSW	5	144176447	missense	probably damaging	1.00
R5818:Lmtk2	UTSW	5	144156900	missense	probably benign	0.07
R5984:Lmtk2	UTSW	5	144174838	missense	probably benign
R6083:Lmtk2	UTSW	5	144182756	missense	probably damaging	1.00
R6180:Lmtk2	UTSW	5	144175342	missense	probably damaging	1.00
R6411:Lmtk2	UTSW	5	144174586	missense	probably damaging	0.99
R6544:Lmtk2	UTSW	5	144173806	missense	possibly damaging	0.68
R6628:Lmtk2	UTSW	5	144174685	missense	probably benign	0.03
R6698:Lmtk2	UTSW	5	144174919	missense	probably benign	0.02
R6742:Lmtk2	UTSW	5	144148357	missense	probably damaging	1.00
R6763:Lmtk2	UTSW	5	144173797	missense	probably damaging	1.00
X0024:Lmtk2	UTSW	5	144174250	missense	probably benign	0.22
Z1088:Lmtk2	UTSW	5	144182851	missense	probably benign	0.12

Posted On

2014-02-04