Incidental Mutation 'R5818:Lmtk2'
ID |
449156 |
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 |
043398-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.526)
|
Stock # |
R5818 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
144037254-144125022 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 144093718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 232
(V232M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041804]
|
AlphaFold |
Q3TYD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041804
AA Change: V232M
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000048238 Gene: ENSMUSG00000038970 AA Change: V232M
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
100% (64/64) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,110,469 (GRCm39) |
V560D |
probably damaging |
Het |
Actn4 |
A |
G |
7: 28,618,444 (GRCm39) |
I72T |
probably damaging |
Het |
Adam33 |
A |
T |
2: 130,896,278 (GRCm39) |
C440S |
possibly damaging |
Het |
Bace1 |
T |
C |
9: 45,770,347 (GRCm39) |
I361T |
possibly damaging |
Het |
Bend6 |
T |
C |
1: 33,922,654 (GRCm39) |
|
probably benign |
Het |
Bpifb9a |
T |
G |
2: 154,104,215 (GRCm39) |
N219K |
probably damaging |
Het |
Cacna1g |
C |
A |
11: 94,308,946 (GRCm39) |
K1634N |
probably damaging |
Het |
Cdk18 |
A |
G |
1: 132,046,836 (GRCm39) |
|
probably null |
Het |
Chrng |
G |
A |
1: 87,137,523 (GRCm39) |
V320I |
probably benign |
Het |
Corin |
G |
T |
5: 72,592,738 (GRCm39) |
H87N |
probably benign |
Het |
Cps1 |
A |
T |
1: 67,205,647 (GRCm39) |
I557F |
possibly damaging |
Het |
Cyp4a29 |
T |
C |
4: 115,104,229 (GRCm39) |
V99A |
possibly damaging |
Het |
Dach1 |
T |
C |
14: 98,406,120 (GRCm39) |
D209G |
probably damaging |
Het |
Dgat1 |
G |
A |
15: 76,386,407 (GRCm39) |
|
probably benign |
Het |
Eif1ad8 |
T |
G |
12: 87,563,830 (GRCm39) |
V55G |
possibly damaging |
Het |
Fbxw26 |
G |
T |
9: 109,561,634 (GRCm39) |
R187S |
probably benign |
Het |
Gabrd |
G |
A |
4: 155,472,818 (GRCm39) |
P122S |
probably damaging |
Het |
Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
Hif1a |
A |
G |
12: 73,986,338 (GRCm39) |
Q343R |
possibly damaging |
Het |
Hyou1 |
G |
A |
9: 44,300,223 (GRCm39) |
|
probably null |
Het |
Igfn1 |
A |
T |
1: 135,893,864 (GRCm39) |
I2072K |
possibly damaging |
Het |
Itprid2 |
T |
A |
2: 79,474,937 (GRCm39) |
S299T |
probably damaging |
Het |
Kash5 |
C |
T |
7: 44,843,383 (GRCm39) |
|
probably null |
Het |
Kctd8 |
C |
T |
5: 69,454,054 (GRCm39) |
A328T |
probably benign |
Het |
Krt10 |
A |
G |
11: 99,279,597 (GRCm39) |
Y188H |
probably damaging |
Het |
Krtap4-16 |
T |
A |
11: 99,742,349 (GRCm39) |
Q17L |
unknown |
Het |
Larp4b |
T |
A |
13: 9,208,596 (GRCm39) |
S416R |
probably benign |
Het |
Mroh4 |
A |
G |
15: 74,483,831 (GRCm39) |
I571T |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,388,777 (GRCm39) |
R2021Q |
probably benign |
Het |
Npl |
G |
A |
1: 153,411,661 (GRCm39) |
R63C |
probably damaging |
Het |
Ntn4 |
A |
G |
10: 93,480,626 (GRCm39) |
I80V |
probably benign |
Het |
Numb |
C |
T |
12: 83,872,028 (GRCm39) |
|
probably null |
Het |
Nusap1 |
A |
C |
2: 119,465,994 (GRCm39) |
M205L |
possibly damaging |
Het |
Onecut2 |
T |
A |
18: 64,474,046 (GRCm39) |
M180K |
possibly damaging |
Het |
Or10d1b |
T |
C |
9: 39,613,661 (GRCm39) |
S135G |
probably benign |
Het |
Pmfbp1 |
T |
C |
8: 110,265,311 (GRCm39) |
|
probably null |
Het |
Ppfia1 |
T |
C |
7: 144,074,305 (GRCm39) |
|
probably benign |
Het |
Ppm1b |
A |
G |
17: 85,301,147 (GRCm39) |
K9R |
probably benign |
Het |
Rab11fip3 |
T |
C |
17: 26,235,090 (GRCm39) |
S608G |
probably damaging |
Het |
Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
Sohlh2 |
A |
G |
3: 55,097,922 (GRCm39) |
T125A |
probably damaging |
Het |
Tet1 |
C |
A |
10: 62,652,187 (GRCm39) |
M1610I |
possibly damaging |
Het |
Tgfbr3 |
A |
T |
5: 107,280,869 (GRCm39) |
D630E |
probably benign |
Het |
Thnsl2 |
T |
C |
6: 71,111,127 (GRCm39) |
D247G |
probably benign |
Het |
Tmem198b |
G |
A |
10: 128,638,057 (GRCm39) |
R169W |
probably benign |
Het |
Tmem201 |
G |
A |
4: 149,811,849 (GRCm39) |
A332V |
probably benign |
Het |
Tsku |
T |
C |
7: 98,001,305 (GRCm39) |
D342G |
possibly damaging |
Het |
Ucn2 |
A |
T |
9: 108,815,565 (GRCm39) |
H109L |
probably benign |
Het |
Virma |
T |
G |
4: 11,513,319 (GRCm39) |
L391R |
possibly damaging |
Het |
Vmn1r60 |
T |
A |
7: 5,548,098 (GRCm39) |
M1L |
probably benign |
Het |
Vmn2r76 |
T |
C |
7: 85,879,142 (GRCm39) |
H386R |
probably benign |
Het |
Zfp608 |
C |
T |
18: 55,028,468 (GRCm39) |
R1315Q |
probably benign |
Het |
Zmym2 |
A |
G |
14: 57,183,986 (GRCm39) |
T983A |
probably benign |
Het |
Zscan26 |
A |
G |
13: 21,629,931 (GRCm39) |
S65P |
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 |
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'- GTCGTTGTCAGACTGTATTTCC -3'
(R):5'- GGCATGTTAGCAGTCTACCAAC -3'
Sequencing Primer
(F):5'- GTTGTCAGACTGTATTTCCTTTACTG -3'
(R):5'- TAAGTTACAGCCAGCCGTTC -3'
|
Posted On |
2016-12-20 |