Incidental Mutation 'R6083:Lmtk2'
| ID |
482294 |
| 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 |
044242-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R6083 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
144037254-144125022 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 144119574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1345
(L1345P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041804]
|
| AlphaFold |
Q3TYD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041804
AA Change: L1345P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048238
Gene: ENSMUSG00000038970
AA Change: L1345P
| 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 |
0.1209 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (76/79) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
A |
11: 58,769,677 (GRCm39) |
P73Q |
possibly damaging |
Het |
| Aak1 |
A |
T |
6: 86,940,978 (GRCm39) |
I591F |
unknown |
Het |
| Ace |
C |
A |
11: 105,876,093 (GRCm39) |
Y816* |
probably null |
Het |
| Ahnak2 |
A |
G |
12: 112,746,715 (GRCm39) |
V1205A |
probably benign |
Het |
| Ahnak2 |
T |
G |
12: 112,746,589 (GRCm39) |
Q1076P |
probably benign |
Het |
| Ap2a1 |
G |
A |
7: 44,557,175 (GRCm39) |
R263W |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,786,397 (GRCm39) |
T257A |
probably benign |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Ccdc17 |
A |
T |
4: 116,454,123 (GRCm39) |
Q47L |
possibly damaging |
Het |
| Cep170 |
C |
T |
1: 176,602,191 (GRCm39) |
R305H |
probably damaging |
Het |
| Cyb5r4 |
C |
T |
9: 86,939,221 (GRCm39) |
P335S |
probably damaging |
Het |
| Cyp2c54 |
A |
G |
19: 40,062,206 (GRCm39) |
L17P |
probably benign |
Het |
| Cyp2c69 |
A |
T |
19: 39,837,900 (GRCm39) |
V394E |
probably damaging |
Het |
| Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
| Defb36 |
A |
T |
2: 152,446,408 (GRCm39) |
M1L |
unknown |
Het |
| Dnaja1 |
A |
G |
4: 40,731,713 (GRCm39) |
D263G |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,510,148 (GRCm39) |
N1560S |
probably damaging |
Het |
| Efnb2 |
T |
C |
8: 8,672,328 (GRCm39) |
|
probably null |
Het |
| Eif3e |
A |
G |
15: 43,129,540 (GRCm39) |
I196T |
probably damaging |
Het |
| Ercc4 |
T |
A |
16: 12,927,903 (GRCm39) |
C24* |
probably null |
Het |
| Fmn1 |
A |
G |
2: 113,194,648 (GRCm39) |
E116G |
unknown |
Het |
| Gnas |
A |
G |
2: 174,139,655 (GRCm39) |
M1V |
probably null |
Het |
| Grin2a |
C |
A |
16: 9,397,404 (GRCm39) |
M894I |
probably benign |
Het |
| Herc2 |
G |
T |
7: 55,878,253 (GRCm39) |
S4566I |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,631,044 (GRCm39) |
P918L |
probably damaging |
Het |
| Hmcn1 |
G |
T |
1: 150,631,045 (GRCm39) |
P918T |
probably damaging |
Het |
| Hsd3b2 |
T |
A |
3: 98,619,372 (GRCm39) |
Y191F |
possibly damaging |
Het |
| Ifit1bl2 |
A |
C |
19: 34,597,217 (GRCm39) |
F133C |
possibly damaging |
Het |
| Itih2 |
T |
C |
2: 10,113,705 (GRCm39) |
|
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,649,899 (GRCm39) |
L191P |
probably benign |
Het |
| Kdr |
T |
C |
5: 76,105,026 (GRCm39) |
K1068R |
probably damaging |
Het |
| Man2b2 |
T |
A |
5: 36,966,385 (GRCm39) |
D936V |
probably damaging |
Het |
| Mapk1ip1 |
G |
A |
7: 138,438,317 (GRCm39) |
R38* |
probably null |
Het |
| Med13l |
T |
C |
5: 118,859,551 (GRCm39) |
V246A |
possibly damaging |
Het |
| Mlec |
T |
A |
5: 115,286,108 (GRCm39) |
T248S |
probably benign |
Het |
| Mslnl |
T |
A |
17: 25,956,876 (GRCm39) |
V54D |
possibly damaging |
Het |
| Muc16 |
G |
A |
9: 18,568,508 (GRCm39) |
T1337I |
unknown |
Het |
| Nek7 |
C |
T |
1: 138,443,392 (GRCm39) |
S187N |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,367,214 (GRCm39) |
V538A |
probably benign |
Het |
| Nktr |
T |
C |
9: 121,579,202 (GRCm39) |
|
probably benign |
Het |
| Npy6r |
A |
G |
18: 44,409,559 (GRCm39) |
K327E |
probably damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,472,789 (GRCm39) |
I221T |
probably damaging |
Het |
| Or3a1c |
A |
G |
11: 74,046,396 (GRCm39) |
M139V |
possibly damaging |
Het |
| Or4a72 |
T |
C |
2: 89,406,016 (GRCm39) |
D18G |
probably benign |
Het |
| Or4c123 |
T |
A |
2: 89,127,368 (GRCm39) |
D82V |
probably damaging |
Het |
| Or5b109 |
A |
T |
19: 13,211,889 (GRCm39) |
I92F |
probably benign |
Het |
| Pcdhga4 |
A |
T |
18: 37,820,478 (GRCm39) |
N676Y |
probably damaging |
Het |
| Pde2a |
T |
C |
7: 101,152,086 (GRCm39) |
I331T |
possibly damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,281,399 (GRCm39) |
Y486* |
probably null |
Het |
| Plch2 |
A |
G |
4: 155,085,275 (GRCm39) |
M272T |
probably benign |
Het |
| Rbm12 |
G |
A |
2: 155,939,646 (GRCm39) |
|
probably benign |
Het |
| Rgs19 |
T |
C |
2: 181,331,300 (GRCm39) |
E111G |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,160,066 (GRCm39) |
N145S |
probably damaging |
Het |
| Rnf4 |
T |
A |
5: 34,508,565 (GRCm39) |
|
probably null |
Het |
| Rpa1 |
T |
C |
11: 75,205,737 (GRCm39) |
T207A |
probably damaging |
Het |
| Rufy4 |
A |
C |
1: 74,168,556 (GRCm39) |
Q113P |
probably damaging |
Het |
| Sh3pxd2b |
T |
G |
11: 32,372,985 (GRCm39) |
S717R |
probably benign |
Het |
| Sin3a |
A |
T |
9: 57,014,824 (GRCm39) |
I682F |
probably damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,212 (GRCm39) |
V842E |
possibly damaging |
Het |
| Slc5a4a |
A |
G |
10: 75,983,431 (GRCm39) |
I23V |
unknown |
Het |
| Slitrk5 |
A |
G |
14: 111,919,157 (GRCm39) |
N927S |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,326,354 (GRCm39) |
K117R |
possibly damaging |
Het |
| Sod2 |
G |
A |
17: 13,226,918 (GRCm39) |
|
probably benign |
Het |
| Stxbp1 |
A |
G |
2: 32,686,030 (GRCm39) |
I567T |
possibly damaging |
Het |
| Tbkbp1 |
C |
A |
11: 97,038,206 (GRCm39) |
L209F |
probably damaging |
Het |
| Tll1 |
G |
T |
8: 64,491,620 (GRCm39) |
|
probably null |
Het |
| Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
| Trib1 |
G |
A |
15: 59,526,324 (GRCm39) |
R298H |
probably damaging |
Het |
| Trim30b |
A |
G |
7: 104,015,349 (GRCm39) |
V13A |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,856,001 (GRCm39) |
T425I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,720,317 (GRCm39) |
|
probably benign |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
A |
1: 187,999,220 (GRCm39) |
S177T |
probably damaging |
Het |
| Usp40 |
A |
T |
1: 87,906,281 (GRCm39) |
S651R |
probably benign |
Het |
| Vmn1r125 |
T |
C |
7: 21,006,644 (GRCm39) |
S181P |
probably damaging |
Het |
| Vmn1r198 |
T |
A |
13: 22,538,928 (GRCm39) |
V138D |
possibly damaging |
Het |
| Vmn1r56 |
A |
G |
7: 5,199,317 (GRCm39) |
L100P |
probably damaging |
Het |
| Vmn2r32 |
T |
A |
7: 7,467,209 (GRCm39) |
D773V |
probably benign |
Het |
| Vmn2r53 |
A |
C |
7: 12,315,808 (GRCm39) |
H670Q |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,711 (GRCm39) |
I809N |
probably damaging |
Het |
| Wdr7 |
G |
A |
18: 63,861,540 (GRCm39) |
G184D |
probably damaging |
Het |
| Wnk1 |
C |
T |
6: 120,014,562 (GRCm39) |
G11D |
probably damaging |
Het |
| Zfp110 |
A |
C |
7: 12,578,602 (GRCm39) |
E171A |
possibly damaging |
Het |
| Zkscan6 |
T |
C |
11: 65,706,757 (GRCm39) |
V134A |
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 |
|
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 |
|
|
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'- AATCCAGGGGAATCTGATGC -3'
(R):5'- CTTTCCAACTGTAGACCATGGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation