Incidental Mutation 'R4474:Lingo2'
| ID |
330483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lingo2
|
| Ensembl Gene |
ENSMUSG00000045083 |
| Gene Name |
leucine rich repeat and Ig domain containing 2 |
| Synonyms |
Lrrn6c, LERN3, B230217C06Rik |
| MMRRC Submission |
041731-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R4474 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
35706647-36951747 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35708810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 390
(E390G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065173]
[ENSMUST00000098151]
[ENSMUST00000108122]
[ENSMUST00000108124]
[ENSMUST00000164772]
|
| AlphaFold |
Q3URE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065173
AA Change: E390G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000069772
Gene: ENSMUSG00000045083
AA Change: E390G
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
27 |
61 |
1.86e-4 |
SMART |
|
LRR
|
80 |
103 |
5.89e1 |
SMART |
|
LRR_TYP
|
104 |
127 |
8.22e-2 |
SMART |
|
LRR
|
128 |
151 |
6.57e-1 |
SMART |
|
LRR
|
152 |
175 |
1.31e0 |
SMART |
|
LRR
|
176 |
199 |
4.83e0 |
SMART |
|
LRR
|
200 |
223 |
1.62e2 |
SMART |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
LRR
|
272 |
295 |
2.17e-1 |
SMART |
|
LRR
|
296 |
319 |
8.01e0 |
SMART |
|
LRR_TYP
|
320 |
343 |
7.15e-2 |
SMART |
|
LRRCT
|
355 |
408 |
3.7e-2 |
SMART |
|
IGc2
|
423 |
490 |
9.99e-13 |
SMART |
|
transmembrane domain
|
543 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098151
AA Change: E390G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095754
Gene: ENSMUSG00000045083
AA Change: E390G
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
27 |
61 |
1.86e-4 |
SMART |
|
LRR
|
80 |
103 |
5.89e1 |
SMART |
|
LRR_TYP
|
104 |
127 |
8.22e-2 |
SMART |
|
LRR
|
128 |
151 |
6.57e-1 |
SMART |
|
LRR
|
152 |
175 |
1.31e0 |
SMART |
|
LRR
|
176 |
199 |
4.83e0 |
SMART |
|
LRR
|
200 |
223 |
1.62e2 |
SMART |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
LRR
|
272 |
295 |
2.17e-1 |
SMART |
|
LRR
|
296 |
319 |
8.01e0 |
SMART |
|
LRR_TYP
|
320 |
343 |
7.15e-2 |
SMART |
|
LRRCT
|
355 |
408 |
3.7e-2 |
SMART |
|
IGc2
|
423 |
490 |
9.99e-13 |
SMART |
|
transmembrane domain
|
543 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108122
AA Change: E390G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103757
Gene: ENSMUSG00000045083
AA Change: E390G
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
27 |
61 |
1.86e-4 |
SMART |
|
LRR
|
80 |
103 |
5.89e1 |
SMART |
|
LRR_TYP
|
104 |
127 |
8.22e-2 |
SMART |
|
LRR
|
128 |
151 |
6.57e-1 |
SMART |
|
LRR
|
152 |
175 |
1.31e0 |
SMART |
|
LRR
|
176 |
199 |
4.83e0 |
SMART |
|
LRR
|
200 |
223 |
1.62e2 |
SMART |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
LRR
|
272 |
295 |
2.17e-1 |
SMART |
|
LRR
|
296 |
319 |
8.01e0 |
SMART |
|
LRR_TYP
|
320 |
343 |
7.15e-2 |
SMART |
|
LRRCT
|
355 |
408 |
3.7e-2 |
SMART |
|
IGc2
|
423 |
490 |
9.99e-13 |
SMART |
|
transmembrane domain
|
543 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108124
AA Change: E390G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103759
Gene: ENSMUSG00000045083
AA Change: E390G
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
27 |
61 |
1.86e-4 |
SMART |
|
LRR
|
80 |
103 |
5.89e1 |
SMART |
|
LRR_TYP
|
104 |
127 |
8.22e-2 |
SMART |
|
LRR
|
128 |
151 |
6.57e-1 |
SMART |
|
LRR
|
152 |
175 |
1.31e0 |
SMART |
|
LRR
|
176 |
199 |
4.83e0 |
SMART |
|
LRR
|
200 |
223 |
1.62e2 |
SMART |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
LRR
|
272 |
295 |
2.17e-1 |
SMART |
|
LRR
|
296 |
319 |
8.01e0 |
SMART |
|
LRR_TYP
|
320 |
343 |
7.15e-2 |
SMART |
|
LRRCT
|
355 |
408 |
3.7e-2 |
SMART |
|
IGc2
|
423 |
490 |
9.99e-13 |
SMART |
|
transmembrane domain
|
543 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164772
AA Change: E390G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130423
Gene: ENSMUSG00000045083
AA Change: E390G
| Domain | Start | End | E-Value | Type |
|---|
|
LRRNT
|
27 |
61 |
1.86e-4 |
SMART |
|
LRR
|
80 |
103 |
5.89e1 |
SMART |
|
LRR_TYP
|
104 |
127 |
8.22e-2 |
SMART |
|
LRR
|
128 |
151 |
6.57e-1 |
SMART |
|
LRR
|
152 |
175 |
1.31e0 |
SMART |
|
LRR
|
176 |
199 |
4.83e0 |
SMART |
|
LRR
|
200 |
223 |
1.62e2 |
SMART |
|
low complexity region
|
249 |
263 |
N/A |
INTRINSIC |
|
LRR
|
272 |
295 |
2.17e-1 |
SMART |
|
LRR
|
296 |
319 |
8.01e0 |
SMART |
|
LRR_TYP
|
320 |
343 |
7.15e-2 |
SMART |
|
LRRCT
|
355 |
408 |
3.7e-2 |
SMART |
|
IGc2
|
423 |
490 |
9.99e-13 |
SMART |
|
transmembrane domain
|
543 |
565 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1003 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
95% (36/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,124,598 (GRCm39) |
I397K |
possibly damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,146,865 (GRCm39) |
A2795D |
probably damaging |
Het |
| Cdk19 |
G |
A |
10: 40,345,952 (GRCm39) |
|
probably null |
Het |
| Cep104 |
T |
A |
4: 154,073,693 (GRCm39) |
M476K |
possibly damaging |
Het |
| Csf1 |
T |
C |
3: 107,661,172 (GRCm39) |
D115G |
probably damaging |
Het |
| Dclre1b |
C |
A |
3: 103,714,559 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
A |
G |
13: 63,023,075 (GRCm39) |
L74P |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hydin |
G |
T |
8: 111,290,497 (GRCm39) |
V3319L |
probably benign |
Het |
| Kcna4 |
A |
G |
2: 107,126,352 (GRCm39) |
N362S |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,967,631 (GRCm39) |
|
probably null |
Het |
| Mdh1 |
T |
G |
11: 21,516,624 (GRCm39) |
D33A |
possibly damaging |
Het |
| Mov10 |
C |
T |
3: 104,725,781 (GRCm39) |
G21D |
probably damaging |
Het |
| Muc21 |
G |
T |
17: 35,931,496 (GRCm39) |
|
probably benign |
Het |
| Or4f56 |
G |
A |
2: 111,703,784 (GRCm39) |
R139W |
possibly damaging |
Het |
| Or7g32 |
T |
A |
9: 19,408,173 (GRCm39) |
L43Q |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,610,749 (GRCm39) |
Y332N |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,325,956 (GRCm39) |
S763G |
probably damaging |
Het |
| Sarm1 |
T |
A |
11: 78,387,927 (GRCm39) |
I120L |
probably benign |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Snx31 |
A |
G |
15: 36,546,256 (GRCm39) |
|
probably benign |
Het |
| Tmem150a |
C |
T |
6: 72,334,035 (GRCm39) |
S39F |
probably benign |
Het |
| Tsc2 |
T |
A |
17: 24,816,238 (GRCm39) |
H1605L |
probably damaging |
Het |
| Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
| Vmn2r95 |
T |
C |
17: 18,672,507 (GRCm39) |
L820P |
probably damaging |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,924 (GRCm39) |
N97D |
possibly damaging |
Het |
|
| Other mutations in Lingo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01861:Lingo2
|
APN |
4 |
35,709,526 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02532:Lingo2
|
APN |
4 |
35,709,171 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02999:Lingo2
|
APN |
4 |
35,708,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Lingo2
|
UTSW |
4 |
35,708,375 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0669:Lingo2
|
UTSW |
4 |
35,709,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1195:Lingo2
|
UTSW |
4 |
35,708,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Lingo2
|
UTSW |
4 |
35,708,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1195:Lingo2
|
UTSW |
4 |
35,708,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Lingo2
|
UTSW |
4 |
35,709,420 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1403:Lingo2
|
UTSW |
4 |
35,709,420 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1552:Lingo2
|
UTSW |
4 |
35,708,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2066:Lingo2
|
UTSW |
4 |
35,709,179 (GRCm39) |
missense |
probably benign |
|
|
R4207:Lingo2
|
UTSW |
4 |
35,709,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4208:Lingo2
|
UTSW |
4 |
35,709,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4326:Lingo2
|
UTSW |
4 |
35,708,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4327:Lingo2
|
UTSW |
4 |
35,708,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Lingo2
|
UTSW |
4 |
35,708,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6801:Lingo2
|
UTSW |
4 |
35,709,566 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7343:Lingo2
|
UTSW |
4 |
35,709,450 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7629:Lingo2
|
UTSW |
4 |
35,708,675 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7740:Lingo2
|
UTSW |
4 |
35,709,248 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7867:Lingo2
|
UTSW |
4 |
35,709,302 (GRCm39) |
missense |
probably benign |
|
|
R7995:Lingo2
|
UTSW |
4 |
35,709,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8909:Lingo2
|
UTSW |
4 |
35,708,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9418:Lingo2
|
UTSW |
4 |
35,709,035 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9612:Lingo2
|
UTSW |
4 |
35,708,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9633:Lingo2
|
UTSW |
4 |
35,709,885 (GRCm39) |
missense |
|
|
|
R9764:Lingo2
|
UTSW |
4 |
35,709,750 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9775:Lingo2
|
UTSW |
4 |
35,708,781 (GRCm39) |
missense |
probably benign |
0.16 |
|
Z1177:Lingo2
|
UTSW |
4 |
35,709,656 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCACCCAGGAAATCACGG -3'
(R):5'- GCACTATTGAGCCTCACTCC -3'
Sequencing Primer
(F):5'- CAGGAAATCACGGGCTGC -3'
(R):5'- CAATGTATCTCAGAACCTGCTGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation