Mutagenetix > Incidental Mutation

Incidental Mutation 'R7700:Lmtk3'

593942

Institutional Source

Beutler Lab

Gene Symbol

Lmtk3

Ensembl Gene

ENSMUSG00000062044

Gene Name

lemur tyrosine kinase 3

Synonyms

AATYK3, Aatyk3

MMRRC Submission

045761-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.554) question?

Stock #

R7700 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45433162-45453568 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45441998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 352 (D352A)

Ref Sequence

ENSEMBL: ENSMUSP00000148041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072580] [ENSMUST00000120005] [ENSMUST00000209617] [ENSMUST00000209701] [ENSMUST00000211609]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000072580
AA Change: D326A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: D326A

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: ENSMUST00000120005
AA Change: D326A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: D326A

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: D352A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000209701

Predicted Effect

probably benign
Transcript: ENSMUST00000211127

Predicted Effect

probably benign
Transcript: ENSMUST00000211609

Meta Mutation Damage Score

0.1404

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (85/85)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,867,417 (GRCm39)	L72P	probably benign	Het
4930407I10Rik	C	A	15: 81,948,306 (GRCm39)	H734Q	probably benign	Het
Acadl	A	G	1: 66,877,522 (GRCm39)	V343A	possibly damaging	Het
Acot4	A	T	12: 84,090,011 (GRCm39)	D236V	probably damaging	Het
App	T	A	16: 84,837,197 (GRCm39)		probably null	Het
Arfgef1	G	A	1: 10,264,636 (GRCm39)	T470I	possibly damaging	Het
Arhgef5	T	C	6: 43,251,691 (GRCm39)	I814T	probably benign	Het
Atr	A	T	9: 95,757,743 (GRCm39)	R968*	probably null	Het
Bltp1	T	A	3: 37,028,321 (GRCm39)	N2329K	possibly damaging	Het
Bltp1	C	T	3: 37,080,303 (GRCm39)	S267L	probably benign	Het
Capn7	C	T	14: 31,074,401 (GRCm39)	T268I	probably benign	Het
Ccdc192	A	G	18: 57,696,388 (GRCm39)		probably null	Het
Ccn1	C	T	3: 145,354,447 (GRCm39)	G155R	probably damaging	Het
Csmd2	G	T	4: 128,439,549 (GRCm39)		probably null	Het
Cubn	A	T	2: 13,352,989 (GRCm39)	F1916L	probably benign	Het
Cubn	A	G	2: 13,494,728 (GRCm39)	V107A	possibly damaging	Het
Cyp11b1	T	A	15: 74,707,691 (GRCm39)	T473S	probably damaging	Het
Dip2c	T	G	13: 9,709,347 (GRCm39)	S1396A	probably benign	Het
Dop1b	T	G	16: 93,595,649 (GRCm39)		probably null	Het
Dyrk1b	T	C	7: 27,883,737 (GRCm39)	Y198H	probably damaging	Het
Echdc2	G	T	4: 108,031,274 (GRCm39)	R206L	probably benign	Het
Ep400	C	T	5: 110,843,898 (GRCm39)	R1594Q	unknown	Het
Esyt1	T	A	10: 128,351,723 (GRCm39)		probably benign	Het
Fmnl2	G	A	2: 52,926,520 (GRCm39)	R69Q		Het
Fry	T	A	5: 150,328,792 (GRCm39)	H1308Q	probably damaging	Het
Fyb2	T	A	4: 104,867,651 (GRCm39)	D667E	probably benign	Het
Gimap7	T	A	6: 48,700,791 (GRCm39)	Y126N	possibly damaging	Het
Gm1979	A	T	5: 26,205,178 (GRCm39)	W266R	probably damaging	Het
Gm28042	T	A	2: 119,870,197 (GRCm39)	M712K	possibly damaging	Het
Gm3238	A	G	10: 77,606,469 (GRCm39)	*231R	probably null	Het
Gm5592	C	A	7: 40,935,831 (GRCm39)	A111E	probably damaging	Het
Gm7694	A	G	1: 170,128,717 (GRCm39)	*271Q	probably null	Het
Gm9195	A	C	14: 72,693,342 (GRCm39)		probably null	Het
Ift81	T	C	5: 122,732,623 (GRCm39)	M304V	possibly damaging	Het
Igfals	T	C	17: 25,099,548 (GRCm39)	L213P	probably damaging	Het
Ints3	G	A	3: 90,329,111 (GRCm39)	P83S	probably benign	Het
Kcna10	T	G	3: 107,102,856 (GRCm39)	S496A	probably damaging	Het
Kmt2d	G	A	15: 98,741,600 (GRCm39)	A4520V	unknown	Het
Lemd3	A	T	10: 120,813,995 (GRCm39)	Y413N	probably damaging	Het
Lgr6	T	C	1: 134,923,770 (GRCm39)	N453S	probably damaging	Het
Lrrc4c	T	C	2: 97,461,024 (GRCm39)	M550T	possibly damaging	Het
Maml2	A	T	9: 13,532,385 (GRCm39)	Q533L		Het
Mdn1	T	A	4: 32,741,344 (GRCm39)	D3815E	probably damaging	Het
Megf8	C	T	7: 25,029,353 (GRCm39)	A299V	possibly damaging	Het
Meis3	G	T	7: 15,911,481 (GRCm39)	E59D	probably benign	Het
Mppe1	A	G	18: 67,358,775 (GRCm39)	*398R	probably null	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Mtus1	T	A	8: 41,537,006 (GRCm39)	T237S	possibly damaging	Het
Ndfip2	T	A	14: 105,525,193 (GRCm39)	V158E	possibly damaging	Het
Nrbp2	T	G	15: 75,962,746 (GRCm39)	T53P	probably damaging	Het
Nrde2	G	A	12: 100,097,094 (GRCm39)	P902L	probably benign	Het
Or10ab5	T	A	7: 108,244,879 (GRCm39)	K301N	probably damaging	Het
Or11g24	T	A	14: 50,662,792 (GRCm39)	M272K	probably benign	Het
Or2y13	A	G	11: 49,415,381 (GRCm39)	Y277C	probably damaging	Het
Or6c202	T	C	10: 128,995,924 (GRCm39)	M310V	probably benign	Het
Pcdha1	A	G	18: 37,064,115 (GRCm39)	T260A	probably damaging	Het
Pdlim1	T	G	19: 40,238,102 (GRCm39)	K98N	probably damaging	Het
Pdxk	A	T	10: 78,279,764 (GRCm39)		probably null	Het
Phrf1	G	A	7: 140,834,842 (GRCm39)	G207R	unknown	Het
Pik3r6	A	G	11: 68,419,389 (GRCm39)	K124R	probably damaging	Het
Polr2b	T	A	5: 77,488,268 (GRCm39)	F823I	probably benign	Het
Prss58	T	C	6: 40,872,322 (GRCm39)	I234V	probably damaging	Het
Ptpn14	A	T	1: 189,597,608 (GRCm39)	N766I	probably benign	Het
Qrfprl	T	A	6: 65,429,940 (GRCm39)	I212N	probably benign	Het
Repin1	T	A	6: 48,574,756 (GRCm39)	S562T	probably damaging	Het
Rgr	C	T	14: 36,766,552 (GRCm39)	D165N	probably damaging	Het
Rho	T	C	6: 115,912,200 (GRCm39)	F221L	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnase2a	A	G	14: 51,493,248 (GRCm39)	I39T	probably damaging	Het
Rpl13a	T	G	7: 44,776,660 (GRCm39)	I43L	probably benign	Het
Rpp30	T	C	19: 36,066,558 (GRCm39)	V97A	probably benign	Het
Scube3	T	C	17: 28,386,023 (GRCm39)	Y755H	probably damaging	Het
Sec24a	A	T	11: 51,603,084 (GRCm39)	V788E	probably damaging	Het
Spns2	A	T	11: 72,380,443 (GRCm39)	L60*	probably null	Het
Strc	T	C	2: 121,202,229 (GRCm39)	N1213S	possibly damaging	Het
Tec	A	T	5: 72,943,367 (GRCm39)	I116N	possibly damaging	Het
Tll1	A	T	8: 64,546,988 (GRCm39)	D319E	probably benign	Het
Tmem121b	T	C	6: 120,470,388 (GRCm39)	T110A	unknown	Het
Tmem232	T	A	17: 65,572,213 (GRCm39)	I593F	probably damaging	Het
Tpp2	A	G	1: 44,009,626 (GRCm39)	I487V	probably benign	Het
Ubr4	C	A	4: 139,136,178 (GRCm39)	C934*	probably null	Het
Vmn1r68	A	G	7: 10,261,559 (GRCm39)	Y180H	probably benign	Het
Vmn2r25	T	C	6: 123,816,882 (GRCm39)	D233G	possibly damaging	Het
Wdr6	A	G	9: 108,453,560 (GRCm39)	W108R	possibly damaging	Het
Zng1	A	G	19: 24,920,045 (GRCm39)		probably null	Het

Other mutations in Lmtk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Lmtk3	APN	7	45,440,331 (GRCm39)	missense	probably damaging	1.00
IGL01996:Lmtk3	APN	7	45,442,871 (GRCm39)	splice site	probably null
IGL02146:Lmtk3	APN	7	45,444,371 (GRCm39)	unclassified	probably benign
IGL02192:Lmtk3	APN	7	45,443,933 (GRCm39)	unclassified	probably benign
IGL02598:Lmtk3	APN	7	45,442,564 (GRCm39)	missense	probably damaging	1.00
BB006:Lmtk3	UTSW	7	45,444,572 (GRCm39)	missense	unknown
BB016:Lmtk3	UTSW	7	45,444,572 (GRCm39)	missense	unknown
R0469:Lmtk3	UTSW	7	45,443,536 (GRCm39)	missense	possibly damaging	0.95
R0510:Lmtk3	UTSW	7	45,443,536 (GRCm39)	missense	possibly damaging	0.95
R0603:Lmtk3	UTSW	7	45,444,980 (GRCm39)	unclassified	probably benign
R0781:Lmtk3	UTSW	7	45,444,427 (GRCm39)	unclassified	probably benign
R1110:Lmtk3	UTSW	7	45,444,427 (GRCm39)	unclassified	probably benign
R1270:Lmtk3	UTSW	7	45,443,252 (GRCm39)	missense	probably damaging	0.96
R1535:Lmtk3	UTSW	7	45,443,994 (GRCm39)	unclassified	probably benign
R1666:Lmtk3	UTSW	7	45,443,588 (GRCm39)	missense	probably benign	0.03
R1807:Lmtk3	UTSW	7	45,442,702 (GRCm39)	missense	probably benign	0.02
R1883:Lmtk3	UTSW	7	45,436,273 (GRCm39)	missense	probably damaging	1.00
R2060:Lmtk3	UTSW	7	45,450,335 (GRCm39)	critical splice acceptor site	probably null
R2107:Lmtk3	UTSW	7	45,443,393 (GRCm39)	missense	possibly damaging	0.56
R2214:Lmtk3	UTSW	7	45,444,277 (GRCm39)	unclassified	probably benign
R2369:Lmtk3	UTSW	7	45,444,512 (GRCm39)	unclassified	probably benign
R4084:Lmtk3	UTSW	7	45,442,716 (GRCm39)	missense	probably damaging	0.97
R4246:Lmtk3	UTSW	7	45,443,486 (GRCm39)	missense	possibly damaging	0.75
R4247:Lmtk3	UTSW	7	45,443,486 (GRCm39)	missense	possibly damaging	0.75
R4249:Lmtk3	UTSW	7	45,443,486 (GRCm39)	missense	possibly damaging	0.75
R4250:Lmtk3	UTSW	7	45,443,486 (GRCm39)	missense	possibly damaging	0.75
R4587:Lmtk3	UTSW	7	45,443,504 (GRCm39)	missense	possibly damaging	0.92
R5026:Lmtk3	UTSW	7	45,443,836 (GRCm39)	unclassified	probably benign
R5275:Lmtk3	UTSW	7	45,440,722 (GRCm39)	missense	probably damaging	1.00
R5295:Lmtk3	UTSW	7	45,440,722 (GRCm39)	missense	probably damaging	1.00
R5624:Lmtk3	UTSW	7	45,436,286 (GRCm39)	missense	probably damaging	0.96
R5688:Lmtk3	UTSW	7	45,440,834 (GRCm39)	missense	probably damaging	1.00
R6478:Lmtk3	UTSW	7	45,448,013 (GRCm39)	missense	unknown
R6737:Lmtk3	UTSW	7	45,443,051 (GRCm39)	missense	probably damaging	0.99
R6800:Lmtk3	UTSW	7	45,443,233 (GRCm39)	missense	possibly damaging	0.91
R6856:Lmtk3	UTSW	7	45,443,721 (GRCm39)	unclassified	probably benign
R7319:Lmtk3	UTSW	7	45,443,740 (GRCm39)	missense	unknown
R7335:Lmtk3	UTSW	7	45,444,581 (GRCm39)	missense	unknown
R7353:Lmtk3	UTSW	7	45,437,424 (GRCm39)	missense	possibly damaging	0.46
R7621:Lmtk3	UTSW	7	45,442,841 (GRCm39)	missense	probably damaging	1.00
R7699:Lmtk3	UTSW	7	45,441,998 (GRCm39)	missense	probably damaging	1.00
R7836:Lmtk3	UTSW	7	45,436,327 (GRCm39)	missense	possibly damaging	0.89
R7929:Lmtk3	UTSW	7	45,444,572 (GRCm39)	missense	unknown
R7951:Lmtk3	UTSW	7	45,435,030 (GRCm39)	missense	probably benign	0.01
R7976:Lmtk3	UTSW	7	45,444,890 (GRCm39)	missense	unknown
R8128:Lmtk3	UTSW	7	45,443,598 (GRCm39)	missense
R8678:Lmtk3	UTSW	7	45,435,975 (GRCm39)	nonsense	probably null
R8732:Lmtk3	UTSW	7	45,447,712 (GRCm39)	missense	unknown
R9335:Lmtk3	UTSW	7	45,442,165 (GRCm39)	missense	probably damaging	1.00
R9356:Lmtk3	UTSW	7	45,443,312 (GRCm39)	missense	probably damaging	0.96
R9432:Lmtk3	UTSW	7	45,441,994 (GRCm39)	missense	probably damaging	1.00
R9645:Lmtk3	UTSW	7	45,450,431 (GRCm39)	missense	unknown
X0052:Lmtk3	UTSW	7	45,442,922 (GRCm39)	missense	probably benign	0.03
X0067:Lmtk3	UTSW	7	45,444,104 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCTGACTGTGCGTATTGG -3'
(R):5'- ATAGGTGACGATAGGGCTGTGC -3'

Sequencing Primer
(F):5'- CTACAAGGTGGGCAGTGC -3'
(R):5'- TGTGCCCCGAACTCGAATAG -3'

Posted On

2019-11-12