Incidental Mutation 'R8105:Lrrtm2'
| ID |
630703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrtm2
|
| Ensembl Gene |
ENSMUSG00000071862 |
| Gene Name |
leucine rich repeat transmembrane neuronal 2 |
| Synonyms |
C630011A14Rik |
| MMRRC Submission |
067536-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8105 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
35342056-35348077 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35346510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 264
(E264G)
|
| 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: E264G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000089225
Gene: ENSMUSG00000071862
AA Change: E264G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid1b |
G |
A |
17: 5,341,518 (GRCm39) |
A941T |
possibly damaging |
Het |
| Calb1 |
A |
T |
4: 15,900,767 (GRCm39) |
|
probably null |
Het |
| Cc2d1b |
T |
C |
4: 108,485,130 (GRCm39) |
S518P |
possibly damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Cltc |
C |
T |
11: 86,598,438 (GRCm39) |
V975I |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,330,567 (GRCm39) |
W62R |
probably damaging |
Het |
| Crot |
A |
G |
5: 9,027,505 (GRCm39) |
Y276H |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,372,548 (GRCm39) |
V2933A |
probably benign |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fhod1 |
T |
C |
8: 106,063,847 (GRCm39) |
T253A |
unknown |
Het |
| Fndc3b |
G |
A |
3: 27,524,374 (GRCm39) |
T462I |
probably benign |
Het |
| Folh1 |
A |
T |
7: 86,395,354 (GRCm39) |
N359K |
probably damaging |
Het |
| Gmppa |
T |
C |
1: 75,413,641 (GRCm39) |
V34A |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,255,949 (GRCm39) |
T484A |
probably benign |
Het |
| Luc7l2 |
T |
C |
6: 38,569,588 (GRCm39) |
F182S |
probably benign |
Het |
| Ly9 |
G |
C |
1: 171,432,890 (GRCm39) |
|
probably null |
Het |
| Meox2 |
C |
T |
12: 37,159,061 (GRCm39) |
H78Y |
possibly damaging |
Het |
| Mynn |
G |
A |
3: 30,665,628 (GRCm39) |
C420Y |
possibly damaging |
Het |
| Or52e18 |
C |
G |
7: 104,609,629 (GRCm39) |
M103I |
probably benign |
Het |
| Rfx1 |
C |
G |
8: 84,814,505 (GRCm39) |
A358G |
possibly damaging |
Het |
| Rnf151 |
G |
A |
17: 24,935,400 (GRCm39) |
T177I |
probably benign |
Het |
| Spef2 |
T |
G |
15: 9,682,748 (GRCm39) |
N578H |
probably benign |
Het |
| Stpg2 |
A |
G |
3: 138,948,925 (GRCm39) |
I240M |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,538,231 (GRCm39) |
V1824I |
probably benign |
Het |
| Ugt3a1 |
T |
A |
15: 9,306,476 (GRCm39) |
F208L |
probably benign |
Het |
| Vldlr |
C |
T |
19: 27,216,204 (GRCm39) |
Q342* |
probably null |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,245 (GRCm39) |
F274L |
probably benign |
Het |
| Xrcc6 |
T |
C |
15: 81,915,352 (GRCm39) |
L435P |
probably 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 |
|
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 |
|
|
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'- TGGCATAGGATGGAGTGCTC -3'
(R):5'- ACTGAGAGAGCTTCATCTAGAGC -3'
Sequencing Primer
(F):5'- TTGGAAACTGCCCAGCCAG -3'
(R):5'- GCTTCATCTAGAGCACAATCAGCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation