Incidental Mutation 'R1417:Lrrtm2'
| ID |
159876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrtm2
|
| Ensembl Gene |
ENSMUSG00000071862 |
| Gene Name |
leucine rich repeat transmembrane neuronal 2 |
| Synonyms |
C630011A14Rik |
| MMRRC Submission |
039473-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
35342056-35348077 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35347011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 97
(I97N)
|
| 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: I97N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089225
Gene: ENSMUSG00000071862
AA Change: I97N
| 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: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
A |
G |
16: 29,117,053 (GRCm39) |
V565A |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,730,862 (GRCm39) |
S196P |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
| Clu |
T |
A |
14: 66,212,420 (GRCm39) |
Y124* |
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,458,162 (GRCm39) |
E658G |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,846,573 (GRCm39) |
E2913G |
probably damaging |
Het |
| Edc4 |
G |
A |
8: 106,614,487 (GRCm39) |
|
probably null |
Het |
| Enox1 |
C |
T |
14: 77,723,445 (GRCm39) |
|
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,053,312 (GRCm39) |
V122A |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,652 (GRCm39) |
S453G |
possibly damaging |
Het |
| Gm12185 |
A |
C |
11: 48,798,669 (GRCm39) |
V608G |
probably damaging |
Het |
| Hbq1a |
A |
G |
11: 32,250,722 (GRCm39) |
D135G |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,244,947 (GRCm39) |
T891A |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,413,993 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Ipo8 |
C |
T |
6: 148,719,550 (GRCm39) |
D132N |
probably benign |
Het |
| Klhl11 |
T |
C |
11: 100,363,115 (GRCm39) |
E147G |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,764,311 (GRCm39) |
V41D |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,894,653 (GRCm39) |
I2306V |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,636,425 (GRCm39) |
V1514A |
probably benign |
Het |
| Mtmr3 |
C |
A |
11: 4,437,923 (GRCm39) |
V844L |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,197,011 (GRCm39) |
E1832G |
probably damaging |
Het |
| Or4n5 |
T |
A |
14: 50,133,020 (GRCm39) |
R80* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,180 (GRCm39) |
T47A |
probably benign |
Het |
| Pfkp |
T |
C |
13: 6,655,755 (GRCm39) |
K293E |
probably benign |
Het |
| Phlpp2 |
G |
T |
8: 110,667,313 (GRCm39) |
E1281* |
probably null |
Het |
| Prss23 |
T |
A |
7: 89,159,392 (GRCm39) |
T226S |
probably damaging |
Het |
| Slc8a1 |
T |
G |
17: 81,715,709 (GRCm39) |
M775L |
probably damaging |
Het |
| Stx12 |
A |
G |
4: 132,587,853 (GRCm39) |
|
probably null |
Het |
| Syt11 |
A |
T |
3: 88,669,289 (GRCm39) |
I201N |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,783,327 (GRCm39) |
N543S |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,037,812 (GRCm39) |
N764S |
probably benign |
Het |
| Xylb |
A |
G |
9: 119,193,606 (GRCm39) |
D100G |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,500,284 (GRCm39) |
|
probably null |
Het |
| Zkscan16 |
T |
C |
4: 58,952,377 (GRCm39) |
V225A |
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 |
|
R1189:Lrrtm2
|
UTSW |
18 |
35,346,545 (GRCm39) |
nonsense |
probably null |
|
|
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'- GCAAACGGTTTGTGCTCAGATCC -3'
(R):5'- CCACCTAAATGCCGCTGTGAGAAG -3'
Sequencing Primer
(F):5'- GTTTGTGCTCAGATCCAGAAACTC -3'
(R):5'- AGAAGCTGCTATTCTACTGCGAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation