Incidental Mutation 'R1189:Lrrtm2'
ID |
102445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrtm2
|
Ensembl Gene |
ENSMUSG00000071862 |
Gene Name |
leucine rich repeat transmembrane neuronal 2 |
Synonyms |
C630011A14Rik |
MMRRC Submission |
039261-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1189 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
35342056-35348077 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 35346545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 252
(W252*)
|
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 null
Transcript: ENSMUST00000091636
AA Change: W252*
|
SMART Domains |
Protein: ENSMUSP00000089225 Gene: ENSMUSG00000071862 AA Change: W252*
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 |
- 1x: 98.6%
- 3x: 97.2%
- 10x: 92.5%
- 20x: 81.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930022D16Rik |
A |
G |
11: 109,308,934 (GRCm39) |
H100R |
unknown |
Het |
Abcc2 |
T |
A |
19: 43,807,852 (GRCm39) |
V831D |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,750,787 (GRCm39) |
S533R |
probably benign |
Het |
Aldh1a2 |
G |
T |
9: 71,171,105 (GRCm39) |
A198S |
possibly damaging |
Het |
Cbarp |
C |
A |
10: 79,967,630 (GRCm39) |
R537L |
possibly damaging |
Het |
Crybg1 |
T |
A |
10: 43,874,790 (GRCm39) |
S773C |
probably damaging |
Het |
Cyp3a13 |
G |
T |
5: 137,909,892 (GRCm39) |
|
probably null |
Het |
Gatad1 |
T |
A |
5: 3,693,701 (GRCm39) |
D156V |
probably damaging |
Het |
Ift172 |
T |
A |
5: 31,443,174 (GRCm39) |
|
probably null |
Het |
Mitf |
T |
C |
6: 97,983,086 (GRCm39) |
C270R |
possibly damaging |
Het |
Muc6 |
T |
A |
7: 141,232,122 (GRCm39) |
S1002C |
probably damaging |
Het |
Or4k2 |
A |
G |
14: 50,424,539 (GRCm39) |
I45T |
probably damaging |
Het |
Or5b113 |
A |
T |
19: 13,342,543 (GRCm39) |
M184L |
probably benign |
Het |
Pcdhb8 |
C |
T |
18: 37,489,620 (GRCm39) |
Q92* |
probably null |
Het |
Plekhm1 |
A |
G |
11: 103,277,888 (GRCm39) |
S403P |
probably benign |
Het |
Ppara |
A |
G |
15: 85,682,365 (GRCm39) |
I354V |
probably benign |
Het |
Psmd2 |
T |
C |
16: 20,480,644 (GRCm39) |
M761T |
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,343,805 (GRCm39) |
N2015K |
probably damaging |
Het |
Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCATTCCCACAGATTGCCAGAGAG -3'
(R):5'- GCAGACCTTGCATTTACGTTCCAAC -3'
Sequencing Primer
(F):5'- ATTGCCAGAGAGGCCAAC -3'
(R):5'- GTTTCTGGATCTGAGCACAAACC -3'
|
Posted On |
2014-01-15 |