Incidental Mutation 'IGL00848:Lmtk2'
| ID |
11786 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmtk2
|
| Ensembl Gene |
ENSMUSG00000038970 |
| Gene Name |
lemur tyrosine kinase 2 |
| Synonyms |
BREK, AATYK2, A330101P12Rik, KPI2, KPI-2, 2900041G10Rik, cprk |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.526)
|
| Stock # |
IGL00848
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
144037254-144125022 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144113216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1312
(E1312G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041804]
|
| AlphaFold |
Q3TYD6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041804
AA Change: E1312G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000048238
Gene: ENSMUSG00000038970
AA Change: E1312G
| 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 |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,370,237 (GRCm39) |
F508L |
probably damaging |
Het |
| Adgra3 |
C |
T |
5: 50,159,291 (GRCm39) |
G320R |
probably damaging |
Het |
| Arhgef40 |
G |
A |
14: 52,224,884 (GRCm39) |
V10M |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 75,003,388 (GRCm39) |
Q4739* |
probably null |
Het |
| Cdcp3 |
A |
G |
7: 130,848,453 (GRCm39) |
E869G |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,861,981 (GRCm39) |
H54Y |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,362,886 (GRCm39) |
D202G |
probably damaging |
Het |
| Cfhr2 |
T |
A |
1: 139,758,970 (GRCm39) |
T27S |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,938,255 (GRCm39) |
C523S |
possibly damaging |
Het |
| Copz1 |
T |
A |
15: 103,207,176 (GRCm39) |
|
probably benign |
Het |
| Crybg1 |
A |
C |
10: 43,843,814 (GRCm39) |
|
probably null |
Het |
| Cyp3a11 |
A |
T |
5: 145,799,275 (GRCm39) |
I304N |
probably damaging |
Het |
| Eif2d |
C |
T |
1: 131,092,173 (GRCm39) |
Q315* |
probably null |
Het |
| Fgfr4 |
A |
G |
13: 55,306,983 (GRCm39) |
E224G |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,505,658 (GRCm39) |
L870Q |
probably damaging |
Het |
| Glt8d2 |
C |
T |
10: 82,497,999 (GRCm39) |
|
probably null |
Het |
| Gpat3 |
A |
T |
5: 101,041,010 (GRCm39) |
M357L |
probably benign |
Het |
| Hrnr |
A |
T |
3: 93,230,204 (GRCm39) |
K147N |
unknown |
Het |
| Kbtbd3 |
T |
A |
9: 4,331,184 (GRCm39) |
S519R |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,976,624 (GRCm39) |
I221T |
probably benign |
Het |
| Khdrbs2 |
C |
T |
1: 32,511,833 (GRCm39) |
A266V |
probably benign |
Het |
| Mos |
T |
C |
4: 3,871,459 (GRCm39) |
N119S |
probably damaging |
Het |
| Mtpap |
C |
T |
18: 4,380,717 (GRCm39) |
H132Y |
probably benign |
Het |
| Myo18b |
G |
A |
5: 113,019,351 (GRCm39) |
T642I |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,196,463 (GRCm39) |
E1303G |
probably benign |
Het |
| Napepld |
A |
T |
5: 21,888,191 (GRCm39) |
M86K |
probably benign |
Het |
| Nvl |
T |
A |
1: 180,932,690 (GRCm39) |
D709V |
probably damaging |
Het |
| Pak1ip1 |
A |
T |
13: 41,166,099 (GRCm39) |
E341D |
probably benign |
Het |
| Pgghg |
G |
A |
7: 140,522,317 (GRCm39) |
G32D |
probably damaging |
Het |
| Phlpp1 |
G |
A |
1: 106,303,985 (GRCm39) |
R1096H |
probably damaging |
Het |
| Phlpp1 |
C |
T |
1: 106,267,178 (GRCm39) |
T697M |
probably damaging |
Het |
| Piwil4 |
T |
G |
9: 14,638,707 (GRCm39) |
T273P |
probably damaging |
Het |
| Pkd2l1 |
A |
T |
19: 44,180,718 (GRCm39) |
|
probably benign |
Het |
| Polr3b |
A |
G |
10: 84,516,241 (GRCm39) |
D623G |
probably damaging |
Het |
| Pop1 |
A |
G |
15: 34,508,875 (GRCm39) |
T317A |
probably benign |
Het |
| Prune2 |
A |
T |
19: 17,096,482 (GRCm39) |
K662I |
probably damaging |
Het |
| Ptger4 |
T |
C |
15: 5,264,589 (GRCm39) |
I356V |
probably benign |
Het |
| Rhbdd1 |
T |
C |
1: 82,318,165 (GRCm39) |
L16P |
possibly damaging |
Het |
| Rps11 |
C |
T |
7: 44,772,925 (GRCm39) |
R22Q |
probably benign |
Het |
| Sfxn2 |
A |
T |
19: 46,578,596 (GRCm39) |
I204F |
probably damaging |
Het |
| Slc26a9 |
C |
T |
1: 131,685,266 (GRCm39) |
S365F |
probably damaging |
Het |
| Slc47a2 |
C |
T |
11: 61,193,059 (GRCm39) |
V565M |
probably benign |
Het |
| Spns1 |
T |
C |
7: 125,970,414 (GRCm39) |
|
probably null |
Het |
| Stk3 |
T |
A |
15: 35,114,768 (GRCm39) |
E48V |
possibly damaging |
Het |
| Svs3b |
T |
C |
2: 164,098,021 (GRCm39) |
E100G |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,952,942 (GRCm39) |
Q1464R |
probably benign |
Het |
| Tspan10 |
T |
C |
11: 120,335,096 (GRCm39) |
S69P |
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,942,007 (GRCm39) |
|
probably benign |
Het |
| Vps45 |
G |
T |
3: 95,964,285 (GRCm39) |
|
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,343,208 (GRCm39) |
N1790K |
probably damaging |
Het |
| Zfp704 |
A |
T |
3: 9,630,299 (GRCm39) |
S21T |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation