Incidental Mutation 'R4621:Lmtk2'
ID |
346138 |
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 |
041886-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.526)
|
Stock # |
R4621 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
144037254-144125022 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 144111752 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 824
(I824N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041804]
|
AlphaFold |
Q3TYD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041804
AA Change: I824N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000048238 Gene: ENSMUSG00000038970 AA Change: I824N
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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (90/90) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd2 |
T |
C |
7: 78,975,235 (GRCm39) |
Y142H |
probably damaging |
Het |
Abra |
C |
T |
15: 41,732,620 (GRCm39) |
D149N |
probably benign |
Het |
Acin1 |
A |
T |
14: 54,890,900 (GRCm39) |
|
probably benign |
Het |
Adap2 |
T |
A |
11: 80,064,899 (GRCm39) |
|
probably null |
Het |
Afdn |
A |
G |
17: 14,109,082 (GRCm39) |
E1535G |
probably damaging |
Het |
Ajm1 |
G |
A |
2: 25,468,412 (GRCm39) |
P500S |
probably damaging |
Het |
Ak9 |
A |
G |
10: 41,282,887 (GRCm39) |
N1218D |
possibly damaging |
Het |
Angptl1 |
G |
A |
1: 156,672,494 (GRCm39) |
V107M |
probably damaging |
Het |
Arhgap26 |
G |
A |
18: 39,032,894 (GRCm39) |
|
probably benign |
Het |
Cage1 |
A |
C |
13: 38,209,477 (GRCm39) |
S61A |
possibly damaging |
Het |
Cdadc1 |
T |
C |
14: 59,824,004 (GRCm39) |
T163A |
probably benign |
Het |
Celsr2 |
A |
T |
3: 108,302,532 (GRCm39) |
V2568D |
possibly damaging |
Het |
Cep44 |
G |
A |
8: 56,995,951 (GRCm39) |
T166M |
probably damaging |
Het |
Cnksr3 |
T |
C |
10: 7,076,182 (GRCm39) |
K187E |
possibly damaging |
Het |
Cyp20a1 |
A |
G |
1: 60,415,258 (GRCm39) |
T295A |
probably benign |
Het |
Dus2 |
T |
A |
8: 106,757,074 (GRCm39) |
M88K |
probably damaging |
Het |
E330034G19Rik |
A |
T |
14: 24,346,070 (GRCm39) |
|
probably benign |
Het |
Ecrg4 |
G |
A |
1: 43,776,412 (GRCm39) |
|
probably null |
Het |
Efna5 |
T |
C |
17: 62,958,040 (GRCm39) |
D72G |
probably benign |
Het |
Epb41l2 |
T |
C |
10: 25,378,038 (GRCm39) |
|
probably null |
Het |
Espn |
A |
G |
4: 152,215,709 (GRCm39) |
S408P |
probably damaging |
Het |
Evi5l |
T |
C |
8: 4,252,909 (GRCm39) |
|
probably benign |
Het |
F830016B08Rik |
G |
A |
18: 60,433,939 (GRCm39) |
V341I |
probably benign |
Het |
Flii |
A |
G |
11: 60,606,937 (GRCm39) |
L1013P |
possibly damaging |
Het |
Fndc10 |
G |
A |
4: 155,779,264 (GRCm39) |
V103M |
probably damaging |
Het |
Frem3 |
T |
A |
8: 81,395,820 (GRCm39) |
|
probably null |
Het |
Gltp |
C |
T |
5: 114,812,188 (GRCm39) |
R106Q |
probably damaging |
Het |
Gtf3c3 |
A |
G |
1: 54,458,575 (GRCm39) |
Y449H |
probably damaging |
Het |
H1f9 |
G |
A |
11: 94,858,986 (GRCm39) |
V94M |
probably damaging |
Het |
Hmga1b |
T |
C |
11: 120,653,866 (GRCm39) |
V51A |
probably damaging |
Het |
Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
Igkv13-84 |
T |
C |
6: 68,916,783 (GRCm39) |
S27P |
possibly damaging |
Het |
Il15ra |
A |
G |
2: 11,723,140 (GRCm39) |
N55D |
possibly damaging |
Het |
Kctd19 |
T |
G |
8: 106,123,103 (GRCm39) |
N104H |
probably damaging |
Het |
Kif27 |
T |
G |
13: 58,478,827 (GRCm39) |
D572A |
probably benign |
Het |
Larp1b |
G |
A |
3: 40,918,424 (GRCm39) |
G22R |
possibly damaging |
Het |
Lcn2 |
A |
T |
2: 32,274,655 (GRCm39) |
|
probably benign |
Het |
Ltbp2 |
A |
G |
12: 84,856,122 (GRCm39) |
I707T |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,266,141 (GRCm39) |
|
probably null |
Het |
Magel2 |
A |
T |
7: 62,027,486 (GRCm39) |
H130L |
unknown |
Het |
Mcoln1 |
A |
G |
8: 3,555,923 (GRCm39) |
I73V |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mycbp2 |
G |
T |
14: 103,457,415 (GRCm39) |
T1627K |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,177,084 (GRCm39) |
E412G |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,778,355 (GRCm39) |
D1370E |
probably benign |
Het |
Ndufaf5 |
A |
G |
2: 140,025,845 (GRCm39) |
T135A |
probably benign |
Het |
Neb |
G |
A |
2: 52,161,051 (GRCm39) |
Q2207* |
probably null |
Het |
Nek3 |
T |
C |
8: 22,647,055 (GRCm39) |
Y160C |
probably damaging |
Het |
Or2y6 |
G |
C |
11: 52,104,706 (GRCm39) |
L37V |
probably benign |
Het |
Or5k8 |
A |
T |
16: 58,644,469 (GRCm39) |
I201N |
possibly damaging |
Het |
Osbpl8 |
A |
G |
10: 111,105,279 (GRCm39) |
I245V |
probably benign |
Het |
Pcdh9 |
T |
C |
14: 94,125,079 (GRCm39) |
I241V |
probably benign |
Het |
Pcdhb12 |
A |
G |
18: 37,570,213 (GRCm39) |
Q453R |
probably benign |
Het |
Pcdhb2 |
A |
G |
18: 37,428,980 (GRCm39) |
T318A |
probably benign |
Het |
Prlr |
T |
A |
15: 10,319,462 (GRCm39) |
|
probably benign |
Het |
Ptprz1 |
C |
T |
6: 23,001,453 (GRCm39) |
A1181V |
possibly damaging |
Het |
Racgap1 |
C |
A |
15: 99,524,087 (GRCm39) |
S440I |
probably benign |
Het |
Rap1gap2 |
A |
G |
11: 74,326,525 (GRCm39) |
|
probably null |
Het |
Rbm5 |
A |
G |
9: 107,631,345 (GRCm39) |
V244A |
probably damaging |
Het |
Rexo5 |
T |
G |
7: 119,418,722 (GRCm39) |
I254R |
probably benign |
Het |
Robo2 |
A |
T |
16: 73,782,821 (GRCm39) |
S316T |
probably benign |
Het |
Satb2 |
A |
T |
1: 56,884,778 (GRCm39) |
V382E |
probably damaging |
Het |
Scg2 |
C |
T |
1: 79,414,381 (GRCm39) |
R114Q |
probably benign |
Het |
Scube2 |
T |
C |
7: 109,399,857 (GRCm39) |
D893G |
possibly damaging |
Het |
Snrpn |
T |
C |
7: 59,637,274 (GRCm39) |
D14G |
possibly damaging |
Het |
Spag17 |
A |
G |
3: 100,010,559 (GRCm39) |
T2018A |
probably benign |
Het |
Spata9 |
T |
G |
13: 76,116,001 (GRCm39) |
F17V |
possibly damaging |
Het |
Supt6 |
A |
G |
11: 78,103,572 (GRCm39) |
Y1378H |
possibly damaging |
Het |
Thsd7b |
T |
C |
1: 129,358,652 (GRCm39) |
S29P |
possibly damaging |
Het |
Tmem59 |
A |
T |
4: 107,047,915 (GRCm39) |
|
probably benign |
Het |
Tmem87a |
A |
G |
2: 120,227,905 (GRCm39) |
S81P |
probably benign |
Het |
Togaram1 |
A |
T |
12: 65,029,224 (GRCm39) |
E882D |
possibly damaging |
Het |
Trbj2-4 |
T |
A |
6: 41,520,308 (GRCm39) |
|
probably benign |
Het |
Trim42 |
T |
A |
9: 97,245,201 (GRCm39) |
Y533F |
probably benign |
Het |
Tssk5 |
C |
T |
15: 76,256,668 (GRCm39) |
R280Q |
probably benign |
Het |
Vmn1r82 |
A |
G |
7: 12,039,263 (GRCm39) |
T179A |
possibly damaging |
Het |
Yipf7 |
T |
A |
5: 69,676,704 (GRCm39) |
Q145L |
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 |
|
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 |
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'- ACTTTCCTTTGTCACAGGGAG -3'
(R):5'- ATCCTGTCTCGATTCTGGAAGAC -3'
Sequencing Primer
(F):5'- TTCCTTTGTCACAGGGAGACACG -3'
(R):5'- GTCTCGATTCTGGAAGACAACTC -3'
|
Posted On |
2015-09-25 |