Mutagenetix > Incidental Mutations

Incidental Mutation 'R4084:Lmtk3'

317022

Institutional Source

Beutler Lab

Gene Symbol

Lmtk3

Ensembl Gene

ENSMUSG00000062044

Gene Name

lemur tyrosine kinase 3

Synonyms

AATYK3, Aatyk3

MMRRC Submission

040857-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.504) question?

Stock #

R4084 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45783738-45804144 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45793292 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 466 (S466R)

Ref Sequence

ENSEMBL: ENSMUSP00000148041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072580] [ENSMUST00000120005] [ENSMUST00000209617] [ENSMUST00000209701]

Predicted Effect

probably damaging
Transcript: ENSMUST00000072580
AA Change: S440R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: S440R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
Pfam:Pkinase	133	408	8.3e-37	PFAM
Pfam:Pkinase_Tyr	133	408	4.9e-64	PFAM
low complexity region	415	444	N/A	INTRINSIC
low complexity region	484	506	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC
low complexity region	639	669	N/A	INTRINSIC
low complexity region	735	791	N/A	INTRINSIC
low complexity region	797	843	N/A	INTRINSIC
low complexity region	1081	1105	N/A	INTRINSIC
low complexity region	1116	1132	N/A	INTRINSIC
low complexity region	1196	1223	N/A	INTRINSIC
low complexity region	1225	1263	N/A	INTRINSIC
low complexity region	1345	1362	N/A	INTRINSIC
low complexity region	1384	1393	N/A	INTRINSIC
low complexity region	1407	1421	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118564
AA Change: S466R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113323
Gene: ENSMUSG00000062044
AA Change: S466R

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
transmembrane domain	61	83	N/A	INTRINSIC
Pfam:Pkinase_Tyr	159	434	4.2e-64	PFAM
Pfam:Pkinase	159	436	1.3e-33	PFAM
low complexity region	441	470	N/A	INTRINSIC
low complexity region	510	532	N/A	INTRINSIC
low complexity region	625	635	N/A	INTRINSIC
low complexity region	665	695	N/A	INTRINSIC
low complexity region	761	817	N/A	INTRINSIC
low complexity region	823	869	N/A	INTRINSIC
low complexity region	1107	1131	N/A	INTRINSIC
low complexity region	1142	1158	N/A	INTRINSIC
low complexity region	1222	1249	N/A	INTRINSIC
low complexity region	1251	1289	N/A	INTRINSIC
low complexity region	1371	1388	N/A	INTRINSIC
low complexity region	1410	1419	N/A	INTRINSIC
low complexity region	1433	1447	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120005
AA Change: S440R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: S440R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
Pfam:Pkinase	133	408	8.3e-37	PFAM
Pfam:Pkinase_Tyr	133	408	4.9e-64	PFAM
low complexity region	415	444	N/A	INTRINSIC
low complexity region	484	506	N/A	INTRINSIC
low complexity region	599	609	N/A	INTRINSIC
low complexity region	639	669	N/A	INTRINSIC
low complexity region	735	791	N/A	INTRINSIC
low complexity region	797	843	N/A	INTRINSIC
low complexity region	1081	1105	N/A	INTRINSIC
low complexity region	1116	1132	N/A	INTRINSIC
low complexity region	1196	1223	N/A	INTRINSIC
low complexity region	1225	1263	N/A	INTRINSIC
low complexity region	1345	1362	N/A	INTRINSIC
low complexity region	1384	1393	N/A	INTRINSIC
low complexity region	1407	1421	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209351

Predicted Effect

probably damaging
Transcript: ENSMUST00000209617
AA Change: S466R

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000209701

Predicted Effect

probably benign
Transcript: ENSMUST00000211127

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit pronounced behavioral abnormalities, including locomotor hyperactivity, reduced anxiety, and decreased depression-like behavior, an increased striatal dopamine turnover rate, and enhanced behavioral response to methylphenidate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amotl2	A	T	9: 102,724,685		probably null	Het
Arhgdig	T	C	17: 26,199,825	D114G	possibly damaging	Het
Btnl1	C	T	17: 34,381,159	T212I	possibly damaging	Het
Camkk1	C	T	11: 73,037,865	T410I	probably damaging	Het
Capn13	C	T	17: 73,337,449	G362R	probably benign	Het
Catsperd	A	G	17: 56,654,453	T392A	probably benign	Het
Ccdc180	A	G	4: 45,950,632	I1626V	probably benign	Het
Cdon	C	A	9: 35,478,131	T844K	probably damaging	Het
Col28a1	G	A	6: 8,013,131	Q974*	probably null	Het
Col28a1	C	G	6: 8,013,132	K973N	possibly damaging	Het
Dnhd1	T	C	7: 105,709,588	L3428P	probably damaging	Het
Ecm1	A	T	3: 95,734,363	N519K	probably damaging	Het
Fbxw11	T	C	11: 32,739,248	V457A	probably damaging	Het
Flna	C	T	X: 74,236,925	V1009M	possibly damaging	Het
Fmnl2	A	T	2: 53,107,495	K486I	possibly damaging	Het
Gja1	A	C	10: 56,388,511	Q322P	possibly damaging	Het
Gm14124	T	A	2: 150,266,202	N27K	possibly damaging	Het
Gtpbp3	A	G	8: 71,490,512	Q189R	probably benign	Het
H2-Eb1	T	C	17: 34,314,443	V213A	probably damaging	Het
Herc4	G	T	10: 63,283,237	G322V	probably damaging	Het
Hgf	G	T	5: 16,615,858	G668*	probably null	Het
Htra1	T	C	7: 130,936,344	S25P	probably benign	Het
Ifi44	A	G	3: 151,745,489		probably null	Het
Klhl24	T	A	16: 20,114,562	S308T	probably damaging	Het
Lamb2	A	G	9: 108,488,018	N1291S	probably benign	Het
Lgals9	A	T	11: 78,969,763	F162Y	possibly damaging	Het
Lig3	T	A	11: 82,795,424	I634N	probably damaging	Het
Lipn	T	C	19: 34,078,940	F229L	probably benign	Het
Lonrf2	G	A	1: 38,821,151	T22I	probably benign	Het
Macf1	T	C	4: 123,450,072	H2119R	probably damaging	Het
Muc6	C	T	7: 141,648,655	C634Y	probably damaging	Het
Nap1l1	G	A	10: 111,490,077	V86I	possibly damaging	Het
Noxred1	A	G	12: 87,233,484	Y25H	possibly damaging	Het
Nphp4	T	C	4: 152,488,791	L62P	probably damaging	Het
Olfr1359	G	A	13: 21,703,068	W22*	probably null	Het
Olfr1359	C	A	13: 21,703,069	L23M	probably damaging	Het
Olfr599	T	G	7: 103,338,320	F89V	probably damaging	Het
Olfr745	T	A	14: 50,642,848	I189N	probably damaging	Het
Pcdh10	A	C	3: 45,392,707	D979A	probably damaging	Het
Pla2g4f	C	G	2: 120,312,325	Q101H	probably benign	Het
Ppp1r15b	T	C	1: 133,133,067	F441L	probably damaging	Het
Prkaca	C	A	8: 83,995,310	P309T	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ripor3	A	G	2: 167,984,466	Y720H	possibly damaging	Het
Rpgrip1	A	G	14: 52,149,351	E751G	possibly damaging	Het
Rsf1	GCGGCGGCGGCGGCGGC	GCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,579,919		probably benign	Het
Ryr3	A	G	2: 112,900,908	S686P	probably damaging	Het
Seh1l	T	C	18: 67,788,790	V240A	possibly damaging	Het
Slc10a2	T	G	8: 5,089,126	I273L	possibly damaging	Het
Slc23a2	A	T	2: 132,091,217	L107*	probably null	Het
Slc44a4	T	C	17: 34,917,347	L38P	probably damaging	Het
Slc6a18	C	T	13: 73,667,029	V387I	probably benign	Het
Slu7	G	A	11: 43,443,391	A415T	probably benign	Het
Tlr5	A	T	1: 182,974,848	R572S	possibly damaging	Het
Tmem45a2	C	T	16: 57,071,024	G3D	probably benign	Het
Trim24	A	G	6: 37,915,257	T242A	probably damaging	Het
Triobp	T	A	15: 78,973,671	N1157K	probably benign	Het
Ugt1a6a	A	T	1: 88,139,177	D235V	probably benign	Het
Vmn2r37	C	T	7: 9,215,985	V467I	probably benign	Het
Vmn2r7	C	T	3: 64,692,993	E495K	probably benign	Het
Vstm2a	A	G	11: 16,263,098	E161G	probably damaging	Het
Ypel3	T	C	7: 126,778,365	V74A	possibly damaging	Het
Zfp27	C	T	7: 29,895,367	R391H	possibly damaging	Het

Other mutations in Lmtk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Lmtk3	APN	7	45790907	missense	probably damaging	1.00
IGL01996:Lmtk3	APN	7	45793447	splice site	probably null
IGL02146:Lmtk3	APN	7	45794947	unclassified	probably benign
IGL02192:Lmtk3	APN	7	45794509	unclassified	probably benign
IGL02598:Lmtk3	APN	7	45793140	missense	probably damaging	1.00
BB006:Lmtk3	UTSW	7	45795148	missense	unknown
BB016:Lmtk3	UTSW	7	45795148	missense	unknown
R0469:Lmtk3	UTSW	7	45794112	missense	possibly damaging	0.95
R0510:Lmtk3	UTSW	7	45794112	missense	possibly damaging	0.95
R0603:Lmtk3	UTSW	7	45795556	unclassified	probably benign
R0781:Lmtk3	UTSW	7	45795003	unclassified	probably benign
R1110:Lmtk3	UTSW	7	45795003	unclassified	probably benign
R1270:Lmtk3	UTSW	7	45793828	missense	probably damaging	0.96
R1535:Lmtk3	UTSW	7	45794570	unclassified	probably benign
R1666:Lmtk3	UTSW	7	45794164	missense	probably benign	0.03
R1807:Lmtk3	UTSW	7	45793278	missense	probably benign	0.02
R1883:Lmtk3	UTSW	7	45786849	missense	probably damaging	1.00
R2060:Lmtk3	UTSW	7	45800911	critical splice acceptor site	probably null
R2107:Lmtk3	UTSW	7	45793969	missense	possibly damaging	0.56
R2214:Lmtk3	UTSW	7	45794853	unclassified	probably benign
R2369:Lmtk3	UTSW	7	45795088	unclassified	probably benign
R4246:Lmtk3	UTSW	7	45794062	missense	possibly damaging	0.75
R4247:Lmtk3	UTSW	7	45794062	missense	possibly damaging	0.75
R4249:Lmtk3	UTSW	7	45794062	missense	possibly damaging	0.75
R4250:Lmtk3	UTSW	7	45794062	missense	possibly damaging	0.75
R4587:Lmtk3	UTSW	7	45794080	missense	possibly damaging	0.92
R5026:Lmtk3	UTSW	7	45794412	unclassified	probably benign
R5275:Lmtk3	UTSW	7	45791298	missense	probably damaging	1.00
R5295:Lmtk3	UTSW	7	45791298	missense	probably damaging	1.00
R5624:Lmtk3	UTSW	7	45786862	missense	probably damaging	0.96
R5688:Lmtk3	UTSW	7	45791410	missense	probably damaging	1.00
R6478:Lmtk3	UTSW	7	45798589	missense	unknown
R6737:Lmtk3	UTSW	7	45793627	missense	probably damaging	0.99
R6800:Lmtk3	UTSW	7	45793809	missense	possibly damaging	0.91
R6856:Lmtk3	UTSW	7	45794297	unclassified	probably benign
R7319:Lmtk3	UTSW	7	45794316	missense	unknown
R7335:Lmtk3	UTSW	7	45795157	missense	unknown
R7353:Lmtk3	UTSW	7	45788000	missense	possibly damaging	0.46
R7621:Lmtk3	UTSW	7	45793417	missense	probably damaging	1.00
R7699:Lmtk3	UTSW	7	45792574	missense	probably damaging	1.00
R7700:Lmtk3	UTSW	7	45792574	missense	probably damaging	1.00
R7836:Lmtk3	UTSW	7	45786903	missense	possibly damaging	0.89
R7929:Lmtk3	UTSW	7	45795148	missense	unknown
R7951:Lmtk3	UTSW	7	45785606	missense	probably benign	0.01
R7976:Lmtk3	UTSW	7	45795466	missense	unknown
R8128:Lmtk3	UTSW	7	45794174	missense
X0052:Lmtk3	UTSW	7	45793498	missense	probably benign	0.03
X0067:Lmtk3	UTSW	7	45794680	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGGTATGACATTTTGCAGTCTTG -3'
(R):5'- GCGCCTCATAGAAGGGATTG -3'

Sequencing Primer
(F):5'- GCAGTCTTGCTGGCGGC -3'
(R):5'- CCTCATAGAAGGGATTGGATGGATTG -3'

Posted On

2015-05-15