Incidental Mutation 'IGL01589:Lrrtm2'
ID |
91525 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrtm2
|
Ensembl Gene |
ENSMUSG00000071862 |
Gene Name |
leucine rich repeat transmembrane neuronal 2 |
Synonyms |
C630011A14Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01589
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
35342056-35348077 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 35345851 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 484
(N484Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089225
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042345]
[ENSMUST00000091636]
|
AlphaFold |
Q8BGA3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042345
|
SMART Domains |
Protein: ENSMUSP00000049007 Gene: ENSMUSG00000037815
Domain | Start | End | E-Value | Type |
Pfam:Vinculin
|
19 |
339 |
2.6e-99 |
PFAM |
Pfam:Vinculin
|
333 |
867 |
3.3e-218 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091636
AA Change: N484Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089225 Gene: ENSMUSG00000071862 AA Change: N484Y
Domain | Start | End | E-Value | Type |
LRRNT
|
33 |
61 |
2.45e0 |
SMART |
LRR_TYP
|
84 |
107 |
5.14e-3 |
SMART |
LRR_TYP
|
108 |
131 |
3.58e-2 |
SMART |
LRR_TYP
|
132 |
155 |
1.6e-4 |
SMART |
LRR_TYP
|
156 |
179 |
4.24e-4 |
SMART |
LRR
|
180 |
203 |
1.14e0 |
SMART |
LRR
|
204 |
224 |
6.05e0 |
SMART |
LRR
|
228 |
251 |
5.12e1 |
SMART |
LRR
|
252 |
275 |
1.97e2 |
SMART |
LRR
|
276 |
299 |
2.45e0 |
SMART |
Blast:LRRCT
|
311 |
360 |
2e-11 |
BLAST |
transmembrane domain
|
422 |
444 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 110,046,003 (GRCm39) |
F307S |
probably damaging |
Het |
Abcc6 |
A |
T |
7: 45,652,096 (GRCm39) |
|
probably benign |
Het |
Adamts12 |
T |
A |
15: 11,311,323 (GRCm39) |
D1193E |
probably benign |
Het |
Akap6 |
T |
A |
12: 53,186,447 (GRCm39) |
L1287H |
probably damaging |
Het |
Ascl3 |
A |
G |
7: 109,327,245 (GRCm39) |
S25P |
probably benign |
Het |
Brd2 |
A |
G |
17: 34,336,016 (GRCm39) |
S66P |
probably damaging |
Het |
Cacna1i |
C |
A |
15: 80,271,960 (GRCm39) |
|
probably benign |
Het |
Cdc5l |
T |
C |
17: 45,715,602 (GRCm39) |
Y670C |
probably damaging |
Het |
Clybl |
T |
A |
14: 122,608,834 (GRCm39) |
I142N |
probably damaging |
Het |
Cyp2c66 |
T |
C |
19: 39,172,379 (GRCm39) |
|
probably null |
Het |
Dck |
C |
T |
5: 88,922,095 (GRCm39) |
|
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,651 (GRCm39) |
Y1053H |
probably damaging |
Het |
Gm9912 |
T |
C |
3: 148,890,986 (GRCm39) |
D49G |
unknown |
Het |
Gpr107 |
T |
C |
2: 31,057,163 (GRCm39) |
|
probably benign |
Het |
Hsd3b7 |
T |
C |
7: 127,402,036 (GRCm39) |
F227S |
probably damaging |
Het |
Muc19 |
A |
T |
15: 91,754,699 (GRCm39) |
|
noncoding transcript |
Het |
Nodal |
G |
A |
10: 61,254,176 (GRCm39) |
R33Q |
probably benign |
Het |
Or1a1 |
T |
C |
11: 74,086,587 (GRCm39) |
L86P |
probably damaging |
Het |
Plcb4 |
A |
G |
2: 135,809,038 (GRCm39) |
I569V |
probably benign |
Het |
Plekhg1 |
T |
C |
10: 3,913,631 (GRCm39) |
Y1118H |
probably benign |
Het |
Polr2a |
T |
G |
11: 69,632,020 (GRCm39) |
E1015D |
probably benign |
Het |
Recql5 |
A |
G |
11: 115,785,495 (GRCm39) |
F667S |
probably damaging |
Het |
Scube1 |
T |
C |
15: 83,496,754 (GRCm39) |
Y749C |
probably damaging |
Het |
Serpinb1c |
C |
A |
13: 33,070,155 (GRCm39) |
V136F |
probably damaging |
Het |
Slain2 |
T |
C |
5: 73,098,789 (GRCm39) |
|
probably benign |
Het |
Slc10a7 |
T |
C |
8: 79,456,369 (GRCm39) |
S296P |
probably damaging |
Het |
Sspo |
C |
T |
6: 48,428,112 (GRCm39) |
R320W |
probably damaging |
Het |
Usp16 |
G |
A |
16: 87,276,071 (GRCm39) |
A469T |
probably benign |
Het |
Vmn2r102 |
A |
T |
17: 19,899,066 (GRCm39) |
L469F |
probably benign |
Het |
Zfp772 |
A |
G |
7: 7,208,523 (GRCm39) |
F107S |
possibly damaging |
Het |
|
Other mutations in Lrrtm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00432:Lrrtm2
|
APN |
18 |
35,346,321 (GRCm39) |
missense |
probably benign |
0.13 |
IGL00835:Lrrtm2
|
APN |
18 |
35,347,292 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01097:Lrrtm2
|
APN |
18 |
35,345,994 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02106:Lrrtm2
|
APN |
18 |
35,345,868 (GRCm39) |
nonsense |
probably null |
|
R0149:Lrrtm2
|
UTSW |
18 |
35,345,985 (GRCm39) |
missense |
probably benign |
0.28 |
R0361:Lrrtm2
|
UTSW |
18 |
35,345,985 (GRCm39) |
missense |
probably benign |
0.28 |
R0924:Lrrtm2
|
UTSW |
18 |
35,346,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R1189:Lrrtm2
|
UTSW |
18 |
35,346,545 (GRCm39) |
nonsense |
probably null |
|
R1417:Lrrtm2
|
UTSW |
18 |
35,347,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R1585:Lrrtm2
|
UTSW |
18 |
35,346,428 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3433:Lrrtm2
|
UTSW |
18 |
35,346,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4019:Lrrtm2
|
UTSW |
18 |
35,345,923 (GRCm39) |
missense |
possibly damaging |
0.76 |
R4540:Lrrtm2
|
UTSW |
18 |
35,346,199 (GRCm39) |
missense |
probably benign |
0.29 |
R4664:Lrrtm2
|
UTSW |
18 |
35,347,310 (GRCm39) |
splice site |
probably null |
|
R4879:Lrrtm2
|
UTSW |
18 |
35,346,372 (GRCm39) |
missense |
probably damaging |
0.98 |
R5797:Lrrtm2
|
UTSW |
18 |
35,346,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R7378:Lrrtm2
|
UTSW |
18 |
35,346,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R7387:Lrrtm2
|
UTSW |
18 |
35,346,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R7391:Lrrtm2
|
UTSW |
18 |
35,345,818 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7408:Lrrtm2
|
UTSW |
18 |
35,346,688 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7584:Lrrtm2
|
UTSW |
18 |
35,345,818 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7629:Lrrtm2
|
UTSW |
18 |
35,347,310 (GRCm39) |
splice site |
probably null |
|
R8105:Lrrtm2
|
UTSW |
18 |
35,346,510 (GRCm39) |
missense |
probably damaging |
0.99 |
R8163:Lrrtm2
|
UTSW |
18 |
35,346,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R8490:Lrrtm2
|
UTSW |
18 |
35,346,451 (GRCm39) |
splice site |
probably null |
|
R8702:Lrrtm2
|
UTSW |
18 |
35,346,018 (GRCm39) |
missense |
probably damaging |
1.00 |
R9513:Lrrtm2
|
UTSW |
18 |
35,346,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R9617:Lrrtm2
|
UTSW |
18 |
35,346,490 (GRCm39) |
missense |
probably benign |
0.41 |
R9725:Lrrtm2
|
UTSW |
18 |
35,345,788 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Lrrtm2
|
UTSW |
18 |
35,347,712 (GRCm39) |
start gained |
probably benign |
|
|
Posted On |
2013-12-09 |