Incidental Mutation 'R0367:Lmtk2'
| ID |
30270 |
| 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 |
038573-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.526)
|
| Stock # |
R0367 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
144037254-144125022 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 144111103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 608
(R608C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041804]
|
| AlphaFold |
Q3TYD6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041804
AA Change: R608C
PolyPhen 2
Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048238
Gene: ENSMUSG00000038970
AA Change: R608C
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
100% (60/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,049,961 (GRCm39) |
S12P |
probably damaging |
Het |
| Alx4 |
T |
A |
2: 93,498,953 (GRCm39) |
D228E |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 98,177,455 (GRCm39) |
E71G |
probably benign |
Het |
| Arhgap19 |
C |
A |
19: 41,790,417 (GRCm39) |
G17V |
probably benign |
Het |
| C8a |
A |
C |
4: 104,719,791 (GRCm39) |
|
probably null |
Het |
| Ccne2 |
T |
A |
4: 11,201,426 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
G |
A |
19: 6,361,425 (GRCm39) |
C317Y |
probably damaging |
Het |
| Cend1 |
C |
A |
7: 141,007,808 (GRCm39) |
R4L |
probably damaging |
Het |
| Cfap44 |
T |
C |
16: 44,253,839 (GRCm39) |
|
probably null |
Het |
| Cpt1c |
T |
C |
7: 44,608,999 (GRCm39) |
N774S |
probably benign |
Het |
| Csmd1 |
C |
T |
8: 15,967,270 (GRCm39) |
D3198N |
probably damaging |
Het |
| Dapk2 |
C |
T |
9: 66,176,168 (GRCm39) |
S323F |
probably damaging |
Het |
| Ddx60 |
T |
G |
8: 62,470,783 (GRCm39) |
I1425R |
possibly damaging |
Het |
| Edem1 |
T |
A |
6: 108,823,713 (GRCm39) |
Y370N |
probably damaging |
Het |
| Elp5 |
A |
G |
11: 69,865,967 (GRCm39) |
V103A |
probably benign |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,477,350 (GRCm39) |
D2132G |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,182,919 (GRCm39) |
|
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,053,791 (GRCm39) |
D57N |
probably damaging |
Het |
| Gpr161 |
T |
C |
1: 165,144,805 (GRCm39) |
|
probably benign |
Het |
| Gstcd |
G |
A |
3: 132,692,138 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
A |
T |
2: 104,261,594 (GRCm39) |
C980* |
probably null |
Het |
| Htr2a |
A |
T |
14: 74,879,649 (GRCm39) |
I93L |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,135,506 (GRCm39) |
K1775N |
probably damaging |
Het |
| Kcnt1 |
G |
A |
2: 25,797,640 (GRCm39) |
V864I |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,278,963 (GRCm39) |
Y38F |
probably damaging |
Het |
| Limch1 |
G |
A |
5: 67,015,297 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
C |
T |
18: 77,513,453 (GRCm39) |
|
probably benign |
Het |
| Lpin2 |
A |
T |
17: 71,522,017 (GRCm39) |
E17V |
probably damaging |
Het |
| Lrrc34 |
A |
T |
3: 30,684,142 (GRCm39) |
F342I |
probably benign |
Het |
| Lyzl6 |
A |
G |
11: 103,527,578 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
A |
C |
17: 12,476,928 (GRCm39) |
|
probably benign |
Het |
| Mocs3 |
C |
T |
2: 168,073,602 (GRCm39) |
P350S |
probably benign |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Or1ad8 |
A |
G |
11: 50,897,904 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or4c52 |
A |
C |
2: 89,846,116 (GRCm39) |
I281L |
probably damaging |
Het |
| Or7e168 |
G |
T |
9: 19,719,839 (GRCm39) |
S75I |
probably damaging |
Het |
| Pcare |
G |
T |
17: 72,057,471 (GRCm39) |
F735L |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,655,538 (GRCm39) |
E477G |
possibly damaging |
Het |
| Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
| Rims2 |
G |
T |
15: 39,326,011 (GRCm39) |
|
probably null |
Het |
| Samd4b |
C |
T |
7: 28,122,873 (GRCm39) |
A62T |
probably damaging |
Het |
| Scamp1 |
T |
C |
13: 94,347,088 (GRCm39) |
N192S |
probably benign |
Het |
| Scnn1g |
T |
C |
7: 121,345,802 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
T |
G |
7: 127,387,358 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,257,192 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,250,823 (GRCm39) |
S415P |
probably benign |
Het |
| Sp140l2 |
G |
T |
1: 85,247,824 (GRCm39) |
|
probably benign |
Het |
| Strip2 |
A |
T |
6: 29,937,650 (GRCm39) |
Y526F |
possibly damaging |
Het |
| Styxl2 |
T |
A |
1: 165,928,332 (GRCm39) |
T427S |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,926,951 (GRCm39) |
D69G |
probably damaging |
Het |
| Syt13 |
C |
A |
2: 92,745,596 (GRCm39) |
A22E |
probably benign |
Het |
| Tm9sf2 |
T |
C |
14: 122,392,780 (GRCm39) |
F432S |
probably benign |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,357 (GRCm39) |
W792R |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,808,227 (GRCm39) |
S1606G |
probably benign |
Het |
| Zfp518a |
A |
T |
19: 40,900,665 (GRCm39) |
H198L |
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 |
|
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 |
|
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'- TGCACACAACCTCTCTGTTGGAAG -3'
(R):5'- AAGGTCGCTCACTTGCTCCTTG -3'
Sequencing Primer
(F):5'- AACCTCTCTGTTGGAAGTGACTAC -3'
(R):5'- GACAATTCTTGGACACTCAGTGG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation