Incidental Mutation 'IGL00432:Lrrtm2'
| ID |
5724 |
| 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 # |
IGL00432
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
35342056-35348077 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35346321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 327
(G327D)
|
| 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 benign
Transcript: ENSMUST00000091636
AA Change: G327D
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000089225
Gene: ENSMUSG00000071862
AA Change: G327D
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
T |
1: 130,670,573 (GRCm39) |
Q265L |
possibly damaging |
Het |
| Akr1c18 |
T |
A |
13: 4,187,232 (GRCm39) |
H168L |
probably damaging |
Het |
| Arid3b |
A |
G |
9: 57,741,207 (GRCm39) |
S80P |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Brd1 |
A |
C |
15: 88,614,361 (GRCm39) |
V178G |
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,333,397 (GRCm39) |
R26Q |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,825,527 (GRCm39) |
M358V |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,642,201 (GRCm39) |
D41G |
probably damaging |
Het |
| Erap1 |
T |
G |
13: 74,821,778 (GRCm39) |
V711G |
probably benign |
Het |
| Gchfr |
A |
G |
2: 119,000,229 (GRCm39) |
R37G |
probably damaging |
Het |
| Gm20518 |
T |
A |
16: 17,676,362 (GRCm39) |
N136I |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,754,124 (GRCm39) |
|
probably benign |
Het |
| Hydin |
T |
A |
8: 111,327,884 (GRCm39) |
V4797E |
probably damaging |
Het |
| Iws1 |
C |
A |
18: 32,217,741 (GRCm39) |
N448K |
probably benign |
Het |
| Lin7c |
T |
C |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
| Lrrc40 |
T |
A |
3: 157,754,087 (GRCm39) |
L196Q |
probably damaging |
Het |
| Masp1 |
C |
T |
16: 23,332,601 (GRCm39) |
C78Y |
probably damaging |
Het |
| Mmd |
C |
T |
11: 90,155,360 (GRCm39) |
R101W |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,492,566 (GRCm39) |
Y730H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,126,914 (GRCm39) |
|
probably benign |
Het |
| Pglyrp4 |
G |
A |
3: 90,646,335 (GRCm39) |
V290M |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,326,404 (GRCm39) |
V113I |
probably benign |
Het |
| Prkch |
T |
A |
12: 73,749,363 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
T |
5: 130,237,565 (GRCm39) |
E213* |
probably null |
Het |
| Rdh16f2 |
T |
A |
10: 127,702,533 (GRCm39) |
C37S |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,215,125 (GRCm39) |
Y1109H |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,572,326 (GRCm39) |
L215* |
probably null |
Het |
| Slc25a33 |
A |
T |
4: 149,829,376 (GRCm39) |
L261H |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,717,225 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
T |
C |
12: 73,398,577 (GRCm39) |
I369T |
probably benign |
Het |
| Tgm4 |
A |
T |
9: 122,891,447 (GRCm39) |
|
probably benign |
Het |
| Tnr |
A |
G |
1: 159,688,815 (GRCm39) |
I426V |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,574 (GRCm39) |
I86V |
probably benign |
Het |
| Wwc1 |
G |
A |
11: 35,735,029 (GRCm39) |
P949S |
possibly damaging |
Het |
| Zfp326 |
A |
T |
5: 106,044,399 (GRCm39) |
I286F |
probably damaging |
Het |
|
| Other mutations in Lrrtm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL01589:Lrrtm2
|
APN |
18 |
35,345,851 (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 |
2012-04-20 |
Incidental Mutation