Incidental Mutation 'R1195:Lingo2'
| ID |
197523 |
| 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 |
039267-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R1195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
35706647-36951747 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35708538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 481
(Y481H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065173]
[ENSMUST00000098151]
[ENSMUST00000108122]
[ENSMUST00000108124]
[ENSMUST00000164772]
|
| AlphaFold |
Q3URE9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065173
AA Change: Y481H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069772
Gene: ENSMUSG00000045083
AA Change: Y481H
| 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 damaging
Transcript: ENSMUST00000098151
AA Change: Y481H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095754
Gene: ENSMUSG00000045083
AA Change: Y481H
| 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 damaging
Transcript: ENSMUST00000108122
AA Change: Y481H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103757
Gene: ENSMUSG00000045083
AA Change: Y481H
| 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 damaging
Transcript: ENSMUST00000108124
AA Change: Y481H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103759
Gene: ENSMUSG00000045083
AA Change: Y481H
| 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 damaging
Transcript: ENSMUST00000164772
AA Change: Y481H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130423
Gene: ENSMUSG00000045083
AA Change: Y481H
| 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 |
0.9449 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.8%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
C |
A |
13: 30,565,901 (GRCm39) |
P322Q |
probably damaging |
Het |
| Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
| Brd1 |
T |
C |
15: 88,585,014 (GRCm39) |
E940G |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,302,209 (GRCm39) |
|
probably benign |
Het |
| Cd28 |
C |
T |
1: 60,802,303 (GRCm39) |
T74I |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 46,460,902 (GRCm39) |
M646K |
probably benign |
Het |
| Cyb5d1 |
C |
T |
11: 69,285,797 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dab2ip |
T |
C |
2: 35,608,757 (GRCm39) |
|
probably benign |
Het |
| Dnajc25 |
C |
T |
4: 59,003,415 (GRCm39) |
A62V |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,250,235 (GRCm39) |
D4063G |
probably damaging |
Het |
| Elmod1 |
T |
C |
9: 53,843,052 (GRCm39) |
Y42C |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,096,332 (GRCm39) |
I310V |
probably damaging |
Het |
| Hpx |
A |
G |
7: 105,248,856 (GRCm39) |
|
probably benign |
Het |
| Ighv10-1 |
A |
T |
12: 114,443,015 (GRCm39) |
|
probably benign |
Het |
| Igsf3 |
A |
G |
3: 101,365,419 (GRCm39) |
D1130G |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,465,654 (GRCm39) |
R1343G |
probably damaging |
Het |
| Kdm4d |
A |
G |
9: 14,374,395 (GRCm39) |
S488P |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Map3k20 |
C |
T |
2: 72,268,562 (GRCm39) |
P523L |
probably damaging |
Het |
| Msx1 |
A |
G |
5: 37,978,625 (GRCm39) |
Y297H |
probably damaging |
Het |
| Myo9a |
A |
G |
9: 59,802,483 (GRCm39) |
D1990G |
probably damaging |
Het |
| Niban2 |
T |
C |
2: 32,809,815 (GRCm39) |
V304A |
probably benign |
Het |
| Perp |
C |
A |
10: 18,731,483 (GRCm39) |
Y147* |
probably null |
Het |
| Prr16 |
A |
T |
18: 51,435,755 (GRCm39) |
D78V |
probably damaging |
Het |
| Rfx7 |
C |
T |
9: 72,525,228 (GRCm39) |
T806M |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,713,016 (GRCm39) |
|
probably null |
Het |
| Sema5b |
A |
T |
16: 35,472,030 (GRCm39) |
E496V |
probably null |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Spdl1 |
T |
C |
11: 34,710,644 (GRCm39) |
Y368C |
probably damaging |
Het |
| Sptbn2 |
G |
C |
19: 4,795,921 (GRCm39) |
R1700P |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tln2 |
T |
G |
9: 67,165,848 (GRCm39) |
K1000Q |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,711,943 (GRCm39) |
T63A |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,926,885 (GRCm39) |
D129G |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Ttll6 |
T |
C |
11: 96,026,555 (GRCm39) |
I113T |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,318,606 (GRCm39) |
F210L |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,131,131 (GRCm39) |
V224E |
probably benign |
Het |
| Zfp639 |
G |
A |
3: 32,573,345 (GRCm39) |
V86I |
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 |
|
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 |
|
R4474:Lingo2
|
UTSW |
4 |
35,708,810 (GRCm39) |
missense |
probably benign |
|
|
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'- GGGCACATACTCAAGGTCAATGCTG -3'
(R):5'- TCTCCTCGTGGATGAAGGGCAAAC -3'
Sequencing Primer
(F):5'- TCCCAGGAATGTGAAACAGC -3'
(R):5'- AGGGCAAACGGTCCAGC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation