Incidental Mutation 'IGL01097:Lrrtm2'
| ID |
53166 |
| 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 # |
IGL01097
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
35342056-35348077 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35345994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 436
(I436N)
|
| 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: I436N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089225
Gene: ENSMUSG00000071862
AA Change: I436N
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
C |
T |
1: 60,486,505 (GRCm39) |
A75V |
probably damaging |
Het |
| Bud23 |
G |
A |
5: 135,089,935 (GRCm39) |
A86V |
probably damaging |
Het |
| Dnajc5 |
T |
C |
2: 181,189,149 (GRCm39) |
Y42H |
probably benign |
Het |
| Fchsd1 |
T |
C |
18: 38,100,810 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
C |
A |
2: 90,606,694 (GRCm39) |
A835D |
possibly damaging |
Het |
| Gm57859 |
T |
C |
11: 113,583,296 (GRCm39) |
I541T |
probably benign |
Het |
| Grin2d |
A |
T |
7: 45,502,716 (GRCm39) |
N718K |
probably damaging |
Het |
| Gsdma3 |
A |
G |
11: 98,528,398 (GRCm39) |
K357E |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,081,010 (GRCm39) |
|
probably null |
Het |
| Mterf2 |
T |
A |
10: 84,955,677 (GRCm39) |
I316L |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,220,942 (GRCm39) |
A1710T |
probably damaging |
Het |
| Nrros |
A |
G |
16: 31,963,003 (GRCm39) |
V338A |
possibly damaging |
Het |
| Or2f2 |
T |
G |
6: 42,767,077 (GRCm39) |
Y35D |
probably damaging |
Het |
| Or52a20 |
G |
T |
7: 103,366,328 (GRCm39) |
V176F |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,684,718 (GRCm39) |
Y807C |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,545 (GRCm39) |
L246P |
probably damaging |
Het |
| Stat6 |
T |
C |
10: 127,490,801 (GRCm39) |
S407P |
probably damaging |
Het |
| Ttpal |
T |
C |
2: 163,449,240 (GRCm39) |
Y32H |
probably damaging |
Het |
| Zfp523 |
A |
G |
17: 28,420,023 (GRCm39) |
K223E |
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 |
|
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 |
2013-06-21 |
Incidental Mutation