Incidental Mutation 'R3870:Lmtk2'
ID |
276500 |
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 |
040789-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.526)
|
Stock # |
R3870 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
144037254-144125022 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 144103245 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041804]
|
AlphaFold |
Q3TYD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041804
|
SMART Domains |
Protein: ENSMUSP00000048238 Gene: ENSMUSG00000038970
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: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
90% (61/68) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028J19Rik |
T |
A |
7: 43,880,828 (GRCm39) |
|
probably null |
Het |
Adam22 |
C |
A |
5: 8,182,418 (GRCm39) |
C514F |
probably damaging |
Het |
Akap8 |
G |
A |
17: 32,536,813 (GRCm39) |
|
probably benign |
Het |
Armcx2 |
A |
T |
X: 133,707,048 (GRCm39) |
V195E |
probably benign |
Het |
Atg7 |
T |
C |
6: 114,674,008 (GRCm39) |
S301P |
possibly damaging |
Het |
Cc2d2a |
C |
A |
5: 43,876,033 (GRCm39) |
Y1003* |
probably null |
Het |
Ccdc93 |
A |
G |
1: 121,390,843 (GRCm39) |
S272G |
probably benign |
Het |
Ces1d |
C |
G |
8: 93,901,714 (GRCm39) |
L418F |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 115,987,979 (GRCm39) |
E170G |
probably damaging |
Het |
Cplane1 |
A |
T |
15: 8,247,948 (GRCm39) |
K1499M |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Ehd4 |
T |
A |
2: 119,967,434 (GRCm39) |
D120V |
probably damaging |
Het |
Eif4g3 |
T |
A |
4: 137,824,211 (GRCm39) |
V71E |
probably damaging |
Het |
Exoc5 |
A |
G |
14: 49,256,853 (GRCm39) |
|
probably benign |
Het |
Glud1 |
T |
A |
14: 34,047,537 (GRCm39) |
|
probably benign |
Het |
Gm10985 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
3: 53,752,626 (GRCm39) |
|
probably null |
Het |
Gm11555 |
G |
T |
11: 99,540,816 (GRCm39) |
C64* |
probably null |
Het |
Gm5468 |
A |
G |
15: 25,414,561 (GRCm39) |
|
probably benign |
Het |
Gpatch2 |
T |
A |
1: 187,054,491 (GRCm39) |
L74Q |
probably damaging |
Het |
Hnrnpa0 |
G |
A |
13: 58,275,713 (GRCm39) |
R139C |
probably damaging |
Het |
Hrh1 |
A |
G |
6: 114,457,880 (GRCm39) |
Y387C |
probably damaging |
Het |
Ldb3 |
A |
T |
14: 34,289,440 (GRCm39) |
D216E |
probably damaging |
Het |
Lingo1 |
A |
T |
9: 56,527,009 (GRCm39) |
S533T |
probably benign |
Het |
Map1s |
A |
G |
8: 71,369,745 (GRCm39) |
E939G |
possibly damaging |
Het |
Mast1 |
G |
A |
8: 85,645,360 (GRCm39) |
T695I |
probably damaging |
Het |
Mettl21e |
G |
A |
1: 44,245,524 (GRCm39) |
R241W |
probably benign |
Het |
Mfsd4a |
G |
A |
1: 131,974,091 (GRCm39) |
T261I |
probably damaging |
Het |
Mmel1 |
T |
C |
4: 154,968,095 (GRCm39) |
S144P |
probably benign |
Het |
Myo16 |
A |
T |
8: 10,492,239 (GRCm39) |
H727L |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,257,477 (GRCm39) |
|
probably null |
Het |
Nipa2 |
T |
C |
7: 55,582,690 (GRCm39) |
R352G |
probably damaging |
Het |
Oaf |
C |
T |
9: 43,134,055 (GRCm39) |
R222Q |
probably benign |
Het |
Or2ag2b |
T |
A |
7: 106,418,047 (GRCm39) |
Y252* |
probably null |
Het |
Pard3 |
T |
C |
8: 128,136,167 (GRCm39) |
S847P |
probably damaging |
Het |
Pgbd1 |
C |
T |
13: 21,618,540 (GRCm39) |
R39H |
possibly damaging |
Het |
Plcb1 |
A |
C |
2: 135,167,591 (GRCm39) |
I462L |
probably damaging |
Het |
Prex2 |
T |
C |
1: 11,230,416 (GRCm39) |
V814A |
possibly damaging |
Het |
Rasal3 |
G |
A |
17: 32,612,522 (GRCm39) |
R780W |
possibly damaging |
Het |
Rubcnl |
C |
T |
14: 75,278,356 (GRCm39) |
P380L |
probably benign |
Het |
Ryk |
A |
G |
9: 102,768,427 (GRCm39) |
E359G |
probably damaging |
Het |
Sall2 |
C |
A |
14: 52,551,451 (GRCm39) |
L579F |
probably damaging |
Het |
Satb2 |
A |
G |
1: 56,930,379 (GRCm39) |
S215P |
probably damaging |
Het |
Scg3 |
T |
C |
9: 75,582,781 (GRCm39) |
|
probably benign |
Het |
Slc35f5 |
A |
G |
1: 125,490,098 (GRCm39) |
T65A |
probably benign |
Het |
Snx33 |
T |
C |
9: 56,834,024 (GRCm39) |
N15S |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,113,762 (GRCm39) |
S180R |
probably benign |
Het |
Stxbp2 |
A |
G |
8: 3,684,079 (GRCm39) |
T129A |
probably damaging |
Het |
Tas1r3 |
A |
T |
4: 155,945,810 (GRCm39) |
C529S |
probably damaging |
Het |
Tlr12 |
T |
A |
4: 128,510,361 (GRCm39) |
M630L |
probably benign |
Het |
Tnfrsf10b |
T |
G |
14: 70,010,905 (GRCm39) |
D103E |
probably benign |
Het |
Togaram1 |
A |
C |
12: 65,049,419 (GRCm39) |
E1285D |
probably benign |
Het |
Tppp |
A |
G |
13: 74,178,891 (GRCm39) |
T111A |
probably benign |
Het |
Trim12c |
T |
C |
7: 103,997,544 (GRCm39) |
Q4R |
probably benign |
Het |
Ttbk2 |
T |
G |
2: 120,570,500 (GRCm39) |
S1149R |
probably damaging |
Het |
Uncx |
T |
C |
5: 139,533,120 (GRCm39) |
L395P |
probably damaging |
Het |
Usp14 |
A |
G |
18: 10,002,370 (GRCm39) |
S314P |
possibly damaging |
Het |
Usp32 |
A |
T |
11: 84,897,881 (GRCm39) |
Y1153* |
probably null |
Het |
Vmn2r6 |
T |
C |
3: 64,464,042 (GRCm39) |
E264G |
probably damaging |
Het |
Vmn2r77 |
T |
C |
7: 86,461,050 (GRCm39) |
F792S |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,792,008 (GRCm39) |
I425V |
probably benign |
Het |
Vstm4 |
C |
T |
14: 32,585,712 (GRCm39) |
A93V |
probably benign |
Het |
Xrcc6 |
T |
A |
15: 81,909,885 (GRCm39) |
S97T |
probably benign |
Het |
Zscan20 |
A |
G |
4: 128,480,218 (GRCm39) |
C758R |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCCCCTCACATGGAATTC -3'
(R):5'- TAACAGCCCAAACCTCTCAGTTTTC -3'
Sequencing Primer
(F):5'- ATGGAATTCCCCTGAACACTGTG -3'
(R):5'- AAGCACTTACTGTATTCCAGGCCG -3'
|
Posted On |
2015-04-06 |