Mutagenetix > Incidental Mutation

Incidental Mutation 'R8856:Lmtk2'

675323

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

068737-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

R8856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144037254-144125022 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 144113079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1266 (D1266E)

Ref Sequence

ENSEMBL: ENSMUSP00000048238 (fasta)

Gene Model

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

AlphaFold

Q3TYD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000041804
AA Change: D1266E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048238
Gene: ENSMUSG00000038970
AA Change: D1266E

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,618,349 (GRCm39)	R214H	probably benign	Het
Abca4	A	G	3: 121,906,096 (GRCm39)	S822G	probably benign	Het
Adgrv1	T	A	13: 81,707,621 (GRCm39)	I1262F	probably benign	Het
Agbl2	A	G	2: 90,632,088 (GRCm39)	D482G	probably damaging	Het
Asph	T	A	4: 9,630,947 (GRCm39)	T134S	possibly damaging	Het
Cacna1a	C	T	8: 85,286,070 (GRCm39)	A905V	probably benign	Het
Cacna1b	C	T	2: 24,569,530 (GRCm39)	R798H	probably benign	Het
Cpne8	G	T	15: 90,486,044 (GRCm39)	Q140K	probably benign	Het
Crocc2	A	T	1: 93,120,847 (GRCm39)	N538I	probably benign	Het
Cyp2j9	T	A	4: 96,462,184 (GRCm39)	I366F	probably damaging	Het
Dchs1	A	T	7: 105,410,064 (GRCm39)	D1769E	probably damaging	Het
Def6	A	T	17: 28,435,972 (GRCm39)	I44F	probably damaging	Het
Dnah7a	G	A	1: 53,462,422 (GRCm39)	T3723M	probably damaging	Het
Ecd	T	A	14: 20,387,140 (GRCm39)	Y198F	probably damaging	Het
Ecel1	A	C	1: 87,079,760 (GRCm39)	M451R	probably damaging	Het
Eea1	A	G	10: 95,831,506 (GRCm39)	D199G	probably benign	Het
Efna5	A	T	17: 62,914,374 (GRCm39)	I217N	unknown	Het
F13a1	A	T	13: 37,100,859 (GRCm39)	D428E	probably damaging	Het
Fads1	T	G	19: 10,170,276 (GRCm39)	I272S	probably benign	Het
Fam149a	C	T	8: 45,834,611 (GRCm39)	A63T		Het
Fam83a	A	T	15: 57,872,977 (GRCm39)	N269Y	probably damaging	Het
Fasn	G	A	11: 120,708,979 (GRCm39)	T568I	possibly damaging	Het
Fbn1	A	G	2: 125,156,637 (GRCm39)	S2363P	probably damaging	Het
Fbxl4	T	A	4: 22,390,803 (GRCm39)	W329R	probably damaging	Het
Fgf12	A	T	16: 28,008,233 (GRCm39)	V189E	probably damaging	Het
Frmd4b	A	T	6: 97,269,359 (GRCm39)	Y984*	probably null	Het
Galm	A	G	17: 80,490,661 (GRCm39)	T273A	possibly damaging	Het
Gm43302	A	G	5: 105,438,739 (GRCm39)	S50P	probably damaging	Het
Gm45861	C	T	8: 28,010,788 (GRCm39)	S561L	unknown	Het
Gnao1	A	G	8: 94,538,045 (GRCm39)	I28V	probably benign	Het
Golga4	A	G	9: 118,385,779 (GRCm39)	N967S	probably damaging	Het
Gpr155	A	T	2: 73,203,993 (GRCm39)	F274I	probably benign	Het
Grm1	A	C	10: 10,595,092 (GRCm39)	N845K	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,443,120 (GRCm39)		probably null	Het
Hsf4	G	T	8: 105,996,628 (GRCm39)	D18Y	probably null	Het
Htt	T	A	5: 35,060,675 (GRCm39)	D2774E	probably benign	Het
Iars2	A	G	1: 185,028,621 (GRCm39)	I679T	probably benign	Het
Irf4	T	C	13: 30,945,414 (GRCm39)	F387L	probably damaging	Het
Itgb5	A	G	16: 33,720,962 (GRCm39)	Y342C	probably damaging	Het
Kcnmb4	A	G	10: 116,282,299 (GRCm39)	W133R	possibly damaging	Het
Ldhc	A	T	7: 46,525,999 (GRCm39)	H271L	probably benign	Het
Lrrtm1	C	A	6: 77,221,807 (GRCm39)	N421K	possibly damaging	Het
Ly9	G	A	1: 171,432,587 (GRCm39)	T142I	probably benign	Het
Manba	A	G	3: 135,223,764 (GRCm39)	Y217C	probably damaging	Het
Mapkbp1	T	C	2: 119,845,109 (GRCm39)	L330P	probably damaging	Het
Marchf2	A	T	17: 33,915,165 (GRCm39)	V143E	probably benign	Het
Mmel1	A	T	4: 154,969,478 (GRCm39)	D191V	possibly damaging	Het
Mrgpra1	A	T	7: 46,985,583 (GRCm39)	I32N	probably benign	Het
Mroh2b	C	T	15: 4,960,510 (GRCm39)	Q748*	probably null	Het
Mrpl34	T	G	8: 71,918,024 (GRCm39)	W66G	probably damaging	Het
Muc21	T	C	17: 35,931,865 (GRCm39)	T774A	unknown	Het
Nde1	T	A	16: 14,001,446 (GRCm39)	S165T		Het
Nek10	T	G	14: 14,937,610 (GRCm38)	I776M	probably damaging	Het
Nell2	A	G	15: 95,281,552 (GRCm39)	S385P	probably damaging	Het
Nsf	A	T	11: 103,821,568 (GRCm39)	F29Y	possibly damaging	Het
Nsmaf	A	T	4: 6,433,320 (GRCm39)	Y133*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or14j8	A	T	17: 38,263,091 (GRCm39)	S275T	possibly damaging	Het
Pcdhb8	A	G	18: 37,489,776 (GRCm39)	I485V	probably benign	Het
Poteg	T	A	8: 27,938,033 (GRCm39)	M1K	probably null	Het
Pramel24	A	T	4: 143,453,303 (GRCm39)	N137I	probably benign	Het
Prdm5	G	A	6: 65,860,569 (GRCm39)	V418I	possibly damaging	Het
Psmc6	T	A	14: 45,578,320 (GRCm39)	C228S	probably damaging	Het
Ptgfrn	C	T	3: 100,963,927 (GRCm39)	A562T	possibly damaging	Het
Ralgapa2	G	T	2: 146,184,139 (GRCm39)	Q1576K	probably benign	Het
Ranbp9	C	T	13: 43,567,506 (GRCm39)	G400D	probably damaging	Het
Rgs11	A	T	17: 26,423,484 (GRCm39)	I134F	probably damaging	Het
Rnf150	T	A	8: 83,762,715 (GRCm39)	C317S	probably damaging	Het
Rrm2b	G	A	15: 37,960,858 (GRCm39)		probably benign	Het
Scai	T	C	2: 38,996,978 (GRCm39)	Q272R	probably benign	Het
Sec62	C	T	3: 30,847,506 (GRCm39)	R4C	possibly damaging	Het
Sgo2b	C	A	8: 64,393,091 (GRCm39)	L115F	probably null	Het
Slc44a3	G	A	3: 121,307,456 (GRCm39)	P177S	probably damaging	Het
Slc45a4	G	A	15: 73,457,966 (GRCm39)	L528F	probably damaging	Het
Slco1a1	G	T	6: 141,857,624 (GRCm39)	A569D	probably damaging	Het
Stam2	G	T	2: 52,604,984 (GRCm39)	Q184K	probably damaging	Het
Tada2b	A	T	5: 36,641,166 (GRCm39)	L79Q	probably damaging	Het
Tecpr1	T	C	5: 144,153,117 (GRCm39)	E204G	possibly damaging	Het
Tecta	A	T	9: 42,284,597 (GRCm39)	D829E	probably benign	Het
Tepsin	A	G	11: 119,982,654 (GRCm39)	V472A	probably benign	Het
Tnfrsf1a	G	A	6: 125,334,688 (GRCm39)	M109I	possibly damaging	Het
Trim42	A	T	9: 97,245,275 (GRCm39)	Y508*	probably null	Het
Trmo	T	G	4: 46,387,625 (GRCm39)	N65T	probably benign	Het
Tspear	G	T	10: 77,665,471 (GRCm39)	E86*	probably null	Het
Ubr1	A	T	2: 120,734,523 (GRCm39)	S1126T	probably damaging	Het
Usp50	C	A	2: 126,622,477 (GRCm39)	D28Y	probably damaging	Het
Utp6	T	A	11: 79,842,455 (GRCm39)	I225F	probably benign	Het
Utrn	T	C	10: 12,543,351 (GRCm39)	T1766A	probably benign	Het
Vcl	T	A	14: 21,045,160 (GRCm39)	N288K	probably benign	Het
Vmn2r69	T	C	7: 85,061,663 (GRCm39)	N104D	probably benign	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfhx4	T	A	3: 5,455,484 (GRCm39)	S1159R	probably benign	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
R0108:Lmtk2	UTSW	5	144,111,103 (GRCm39)	missense	possibly damaging	0.78
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
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

Predicted Primers

PCR Primer
(F):5'- TGCATACATGAGTTCCACACTGG -3'
(R):5'- CTGGTCAAACAGATAAACGGTG -3'

Sequencing Primer
(F):5'- ACTGGATAAATCTTTGCCCAGC -3'
(R):5'- TCGAAAAATGTCACTGCCTTC -3'

Posted On

2021-07-15