Incidental Mutation 'R7390:Lmtk2'
| ID |
573356 |
| 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 |
045472-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R7390 (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 144066261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 65
(V65A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041804]
|
| AlphaFold |
Q3TYD6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041804
AA Change: V65A
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048238
Gene: ENSMUSG00000038970
AA Change: V65A
| 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: 99.0%
|
| Validation Efficiency |
97% (66/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
T |
13: 60,992,152 (GRCm39) |
D291E |
probably benign |
Het |
| Abca9 |
C |
T |
11: 110,036,487 (GRCm39) |
V541I |
probably benign |
Het |
| Adamts15 |
A |
T |
9: 30,822,404 (GRCm39) |
|
probably null |
Het |
| Adgrg7 |
A |
G |
16: 56,553,207 (GRCm39) |
I630T |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,980,569 (GRCm39) |
I618V |
probably benign |
Het |
| Amotl2 |
T |
A |
9: 102,608,889 (GRCm39) |
V801E |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,430,779 (GRCm39) |
T1002A |
probably benign |
Het |
| Bmp7 |
C |
T |
2: 172,711,998 (GRCm39) |
D409N |
probably damaging |
Het |
| Bpifb2 |
A |
G |
2: 153,731,726 (GRCm39) |
N293S |
possibly damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,510,044 (GRCm39) |
C854R |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,736,304 (GRCm39) |
E1225G |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,741,833 (GRCm39) |
E2146G |
possibly damaging |
Het |
| Ces1a |
A |
C |
8: 93,771,469 (GRCm39) |
|
probably null |
Het |
| Cfap45 |
T |
G |
1: 172,368,925 (GRCm39) |
D444E |
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,843,802 (GRCm39) |
V296A |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,552,931 (GRCm39) |
R1011H |
probably benign |
Het |
| Cops4 |
C |
T |
5: 100,691,741 (GRCm39) |
R347C |
probably damaging |
Het |
| D16Ertd472e |
G |
T |
16: 78,344,576 (GRCm39) |
D177E |
probably benign |
Het |
| Dcdc2a |
T |
C |
13: 25,291,600 (GRCm39) |
V195A |
possibly damaging |
Het |
| Dipk2a |
A |
G |
9: 94,419,436 (GRCm39) |
S165P |
probably damaging |
Het |
| Dpagt1 |
G |
A |
9: 44,243,319 (GRCm39) |
V285I |
probably benign |
Het |
| Dspp |
G |
T |
5: 104,323,552 (GRCm39) |
A232S |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,615,411 (GRCm39) |
I726T |
possibly damaging |
Het |
| Ephx2 |
G |
A |
14: 66,347,904 (GRCm39) |
|
|
Het |
| Fat1 |
T |
C |
8: 45,405,511 (GRCm39) |
V754A |
possibly damaging |
Het |
| Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,077,314 (GRCm39) |
S953T |
possibly damaging |
Het |
| Gm1123 |
T |
C |
9: 98,893,033 (GRCm39) |
N315S |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,178,202 (GRCm39) |
E37G |
|
Het |
| Gpr139 |
T |
A |
7: 118,743,835 (GRCm39) |
Q250L |
probably benign |
Het |
| Grik3 |
C |
T |
4: 125,543,532 (GRCm39) |
R283C |
probably damaging |
Het |
| Haao |
A |
C |
17: 84,154,081 (GRCm39) |
V22G |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,266,490 (GRCm39) |
F1884I |
probably damaging |
Het |
| Hyal3 |
G |
A |
9: 107,462,166 (GRCm39) |
G67S |
probably damaging |
Het |
| Kbtbd3 |
T |
A |
9: 4,330,424 (GRCm39) |
I266K |
probably benign |
Het |
| Klhl26 |
A |
C |
8: 70,905,499 (GRCm39) |
L137R |
probably damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Lars1 |
A |
G |
18: 42,343,083 (GRCm39) |
|
probably null |
Het |
| Lats1 |
C |
T |
10: 7,577,859 (GRCm39) |
Q328* |
probably null |
Het |
| Lingo3 |
G |
A |
10: 80,670,463 (GRCm39) |
T489I |
probably damaging |
Het |
| Lysmd1 |
T |
C |
3: 95,045,795 (GRCm39) |
S211P |
probably damaging |
Het |
| Med15 |
C |
T |
16: 17,540,626 (GRCm39) |
S21N |
unknown |
Het |
| Nav1 |
T |
C |
1: 135,512,656 (GRCm39) |
T135A |
probably benign |
Het |
| Nt5c1a |
G |
C |
4: 123,102,272 (GRCm39) |
R66T |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,732,024 (GRCm39) |
Y3509H |
unknown |
Het |
| Pkp4 |
G |
A |
2: 59,140,484 (GRCm39) |
G397R |
possibly damaging |
Het |
| Ppp1r21 |
G |
A |
17: 88,856,958 (GRCm39) |
A138T |
probably benign |
Het |
| Pum3 |
A |
T |
19: 27,401,642 (GRCm39) |
V136D |
probably benign |
Het |
| Rab11fip3 |
A |
T |
17: 26,287,126 (GRCm39) |
D342E |
possibly damaging |
Het |
| Rcvrn |
T |
A |
11: 67,590,883 (GRCm39) |
W156R |
probably damaging |
Het |
| Rspry1 |
C |
T |
8: 95,349,813 (GRCm39) |
T67I |
probably benign |
Het |
| Serpina1d |
T |
C |
12: 103,734,037 (GRCm39) |
D89G |
possibly damaging |
Het |
| Sgsm3 |
T |
A |
15: 80,893,021 (GRCm39) |
V366E |
possibly damaging |
Het |
| Shank3 |
T |
G |
15: 89,433,515 (GRCm39) |
L1420R |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,608,100 (GRCm39) |
L215* |
probably null |
Het |
| Slc16a13 |
C |
T |
11: 70,109,797 (GRCm39) |
V235I |
probably benign |
Het |
| Slc16a14 |
T |
C |
1: 84,907,187 (GRCm39) |
D29G |
probably benign |
Het |
| Speer1a |
T |
C |
5: 11,394,879 (GRCm39) |
V122A |
probably benign |
Het |
| Spns2 |
T |
A |
11: 72,347,704 (GRCm39) |
T329S |
possibly damaging |
Het |
| Sufu |
G |
A |
19: 46,439,108 (GRCm39) |
|
probably null |
Het |
| Tll2 |
A |
G |
19: 41,108,608 (GRCm39) |
|
probably null |
Het |
| Trim10 |
G |
A |
17: 37,180,773 (GRCm39) |
M1I |
probably null |
Het |
| Trim42 |
A |
C |
9: 97,241,182 (GRCm39) |
N683K |
probably damaging |
Het |
| Trmt5 |
A |
G |
12: 73,328,394 (GRCm39) |
S270P |
probably damaging |
Het |
| Vmn1r59 |
C |
A |
7: 5,456,986 (GRCm39) |
R258L |
possibly damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,482,851 (GRCm39) |
L41S |
probably benign |
Het |
| Vmn2r93 |
A |
T |
17: 18,525,329 (GRCm39) |
E329V |
probably damaging |
Het |
| Ywhae |
G |
T |
11: 75,655,487 (GRCm39) |
E253* |
probably null |
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 |
|
|
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'- GATCCATTCATATCCAGAATGTTGG -3'
(R):5'- TCCCAAGAGAATGTGGTCGAC -3'
Sequencing Primer
(F):5'- CATTCATATCCAGAATGTTGGTTCAG -3'
(R):5'- TACTTGCCTTGTACAATGAGGAGGAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation