Incidental Mutation 'R8816:Lmtk2'
ID |
672729 |
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 |
068726-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.548)
|
Stock # |
R8816 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
144037254-144125022 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 144112793 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 1171
(L1171*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041804]
|
AlphaFold |
Q3TYD6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041804
AA Change: L1171*
|
SMART Domains |
Protein: ENSMUSP00000048238 Gene: ENSMUSG00000038970 AA Change: L1171*
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: 99.1%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
A |
11: 110,127,513 (GRCm39) |
H348L |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,478,024 (GRCm39) |
Y74* |
probably null |
Het |
Ass1 |
T |
C |
2: 31,383,189 (GRCm39) |
|
probably benign |
Het |
Atp8b4 |
C |
T |
2: 126,214,084 (GRCm39) |
|
probably benign |
Het |
Atrn |
C |
A |
2: 130,748,798 (GRCm39) |
N106K |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,846,494 (GRCm39) |
V1256A |
probably damaging |
Het |
Bicdl1 |
T |
A |
5: 115,862,804 (GRCm39) |
Q150H |
probably damaging |
Het |
Bltp3b |
T |
C |
10: 89,626,597 (GRCm39) |
|
probably benign |
Het |
Cdhr4 |
T |
C |
9: 107,872,791 (GRCm39) |
V280A |
possibly damaging |
Het |
Cfap54 |
C |
T |
10: 92,714,454 (GRCm39) |
V2642I |
unknown |
Het |
Chd2 |
T |
C |
7: 73,140,245 (GRCm39) |
H661R |
probably damaging |
Het |
Cntnap2 |
A |
G |
6: 46,833,076 (GRCm39) |
D763G |
possibly damaging |
Het |
Csnk1g2 |
T |
C |
10: 80,474,093 (GRCm39) |
C160R |
probably damaging |
Het |
Cyb5r4 |
T |
C |
9: 86,904,286 (GRCm39) |
S19P |
probably benign |
Het |
Cyp4a30b |
G |
A |
4: 115,309,834 (GRCm39) |
V12M |
probably benign |
Het |
Dpp6 |
C |
T |
5: 27,930,711 (GRCm39) |
P848S |
probably benign |
Het |
Dzip1 |
T |
C |
14: 119,159,785 (GRCm39) |
Y141C |
probably benign |
Het |
Eif2b3 |
C |
A |
4: 116,928,052 (GRCm39) |
Q424K |
probably benign |
Het |
Fbxw14 |
G |
A |
9: 109,105,305 (GRCm39) |
R287* |
probably null |
Het |
Fcgbp |
T |
G |
7: 27,784,412 (GRCm39) |
S157R |
probably benign |
Het |
Fmnl2 |
T |
G |
2: 53,004,214 (GRCm39) |
V642G |
unknown |
Het |
Gpr119 |
C |
T |
X: 47,762,276 (GRCm39) |
R287Q |
possibly damaging |
Het |
Grm7 |
C |
T |
6: 111,230,966 (GRCm39) |
T463I |
possibly damaging |
Het |
Haus4 |
G |
A |
14: 54,779,710 (GRCm39) |
R305C |
probably benign |
Het |
Htr1f |
A |
G |
16: 64,746,537 (GRCm39) |
S252P |
probably benign |
Het |
Ino80b |
T |
C |
6: 83,098,861 (GRCm39) |
Q359R |
probably damaging |
Het |
Itgad |
C |
A |
7: 127,797,542 (GRCm39) |
Y924* |
probably null |
Het |
Itpr2 |
A |
G |
6: 146,142,710 (GRCm39) |
Y1703H |
probably damaging |
Het |
Kif5c |
T |
A |
2: 49,584,799 (GRCm39) |
V174E |
probably damaging |
Het |
Kifc2 |
A |
G |
15: 76,548,371 (GRCm39) |
E405G |
probably damaging |
Het |
Klk1b3 |
T |
C |
7: 43,851,668 (GRCm39) |
V242A |
possibly damaging |
Het |
Kndc1 |
T |
C |
7: 139,517,909 (GRCm39) |
F1615S |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,693,778 (GRCm39) |
E1530G |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,699,721 (GRCm39) |
S258C |
possibly damaging |
Het |
Nudcd3 |
C |
T |
11: 6,100,587 (GRCm39) |
G186S |
probably damaging |
Het |
Or9s15 |
T |
A |
1: 92,524,768 (GRCm39) |
C176S |
probably damaging |
Het |
Otog |
C |
T |
7: 45,950,905 (GRCm39) |
S374F |
possibly damaging |
Het |
P2ry2 |
T |
A |
7: 100,647,763 (GRCm39) |
I181F |
possibly damaging |
Het |
Pde11a |
T |
C |
2: 76,121,577 (GRCm39) |
I335V |
probably benign |
Het |
Phyhip |
A |
C |
14: 70,704,375 (GRCm39) |
D198A |
probably damaging |
Het |
Pik3r5 |
A |
T |
11: 68,385,060 (GRCm39) |
Y655F |
probably damaging |
Het |
Rab6a |
T |
C |
7: 100,279,145 (GRCm39) |
I95T |
possibly damaging |
Het |
Sgsm1 |
T |
C |
5: 113,435,097 (GRCm39) |
E99G |
probably damaging |
Het |
Skint10 |
A |
T |
4: 112,603,892 (GRCm39) |
F98L |
probably benign |
Het |
Slc35c2 |
A |
G |
2: 165,119,378 (GRCm39) |
S321P |
probably benign |
Het |
Smyd1 |
T |
A |
6: 71,192,868 (GRCm39) |
E447V |
probably damaging |
Het |
Smyd4 |
T |
C |
11: 75,281,232 (GRCm39) |
V235A |
probably benign |
Het |
Sod2 |
A |
G |
17: 13,227,253 (GRCm39) |
Y69C |
probably benign |
Het |
Spns1 |
G |
A |
7: 125,971,593 (GRCm39) |
S319F |
possibly damaging |
Het |
Tfap2b |
A |
G |
1: 19,284,337 (GRCm39) |
S82G |
probably benign |
Het |
Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
Tln2 |
A |
G |
9: 67,128,799 (GRCm39) |
I1430T |
probably damaging |
Het |
Trio |
G |
T |
15: 27,741,357 (GRCm39) |
N2680K |
probably damaging |
Het |
Trmt10c |
A |
T |
16: 55,854,522 (GRCm39) |
V371D |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,965,580 (GRCm39) |
S1692P |
probably damaging |
Het |
Usb1 |
G |
T |
8: 96,071,984 (GRCm39) |
C228F |
probably benign |
Het |
Veph1 |
G |
T |
3: 66,065,646 (GRCm39) |
H474N |
probably benign |
Het |
Wls |
A |
G |
3: 159,639,928 (GRCm39) |
T520A |
possibly damaging |
Het |
Ywhae |
T |
C |
11: 75,623,878 (GRCm39) |
Y9H |
probably damaging |
Het |
Zranb3 |
C |
T |
1: 127,964,347 (GRCm39) |
V127M |
possibly 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 |
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 |
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'- ACCTGAGTCAGTTGTCCCAG -3'
(R):5'- CAAAGTTTGCCAAGGTATTTCCC -3'
Sequencing Primer
(F):5'- TGTCCCAGAAGAAAGCTCTGATGTC -3'
(R):5'- AAGGTATTTCCCTTCAATGTCTGG -3'
|
Posted On |
2021-04-30 |