Incidental Mutation 'R1403:Lingo2'
| ID |
188598 |
| 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 |
039465-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R1403 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
35706647-36951747 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35709420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 187
(C187S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065173]
[ENSMUST00000098151]
[ENSMUST00000108122]
[ENSMUST00000108124]
[ENSMUST00000164772]
|
| AlphaFold |
Q3URE9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065173
AA Change: C187S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000069772
Gene: ENSMUSG00000045083
AA Change: C187S
| 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 |
possibly damaging
Transcript: ENSMUST00000098151
AA Change: C187S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000095754
Gene: ENSMUSG00000045083
AA Change: C187S
| 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 |
possibly damaging
Transcript: ENSMUST00000108122
AA Change: C187S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103757
Gene: ENSMUSG00000045083
AA Change: C187S
| 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 |
possibly damaging
Transcript: ENSMUST00000108124
AA Change: C187S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103759
Gene: ENSMUSG00000045083
AA Change: C187S
| 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 |
possibly damaging
Transcript: ENSMUST00000164772
AA Change: C187S
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130423
Gene: ENSMUSG00000045083
AA Change: C187S
| 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 |
0.1779 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (51/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,059,253 (GRCm39) |
|
probably benign |
Het |
| AC238840.3 |
T |
G |
7: 38,567,345 (GRCm39) |
I28L |
probably benign |
Het |
| Acsf2 |
G |
T |
11: 94,453,700 (GRCm39) |
N420K |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,022,229 (GRCm39) |
C420* |
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,874,909 (GRCm39) |
Y424C |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,576,246 (GRCm39) |
V553A |
probably benign |
Het |
| Akr7a5 |
T |
A |
4: 139,045,434 (GRCm39) |
M325K |
probably damaging |
Het |
| Akt3 |
C |
T |
1: 176,958,676 (GRCm39) |
|
probably benign |
Het |
| Aldh7a1 |
C |
A |
18: 56,692,341 (GRCm39) |
E87* |
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,767,578 (GRCm39) |
K7E |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,466,114 (GRCm39) |
D1959E |
probably benign |
Het |
| Cdc42se2 |
A |
G |
11: 54,611,192 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Chil5 |
G |
T |
3: 105,925,409 (GRCm39) |
Q171K |
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Dhrs7c |
A |
T |
11: 67,702,476 (GRCm39) |
I155F |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,603,300 (GRCm39) |
|
probably null |
Het |
| Ell |
T |
A |
8: 71,044,138 (GRCm39) |
|
probably benign |
Het |
| Fam124b |
T |
C |
1: 80,191,056 (GRCm39) |
Y109C |
possibly damaging |
Het |
| Gak |
T |
A |
5: 108,739,011 (GRCm39) |
K156M |
probably damaging |
Het |
| Gm9797 |
C |
A |
10: 11,485,294 (GRCm39) |
|
noncoding transcript |
Het |
| Got1l1 |
C |
G |
8: 27,690,745 (GRCm39) |
|
probably null |
Het |
| Grm1 |
T |
C |
10: 10,955,879 (GRCm39) |
D135G |
probably benign |
Het |
| Hrh3 |
T |
G |
2: 179,744,547 (GRCm39) |
D131A |
probably damaging |
Het |
| Itpr1 |
A |
T |
6: 108,366,514 (GRCm39) |
Q979L |
probably null |
Het |
| Kdm7a |
C |
A |
6: 39,128,187 (GRCm39) |
|
probably benign |
Het |
| Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,417,760 (GRCm39) |
|
probably null |
Het |
| Ltbp4 |
T |
C |
7: 27,028,464 (GRCm39) |
N266S |
unknown |
Het |
| Mgam |
G |
A |
6: 40,643,815 (GRCm39) |
S581N |
possibly damaging |
Het |
| Mrgpra9 |
T |
A |
7: 46,885,386 (GRCm39) |
I94L |
probably benign |
Het |
| Msantd4 |
A |
T |
9: 4,384,023 (GRCm39) |
I115F |
probably benign |
Het |
| Mterf3 |
A |
G |
13: 67,077,944 (GRCm39) |
|
probably benign |
Het |
| Neurl1a |
C |
A |
19: 47,242,150 (GRCm39) |
N414K |
probably damaging |
Het |
| Nfkbiz |
A |
G |
16: 55,636,833 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
C |
17: 90,950,481 (GRCm39) |
L566R |
probably benign |
Het |
| Nsmce1 |
A |
G |
7: 125,067,027 (GRCm39) |
|
probably benign |
Het |
| Or5p59 |
T |
A |
7: 107,702,822 (GRCm39) |
I102N |
probably benign |
Het |
| Prl7d1 |
A |
T |
13: 27,893,180 (GRCm39) |
F243I |
possibly damaging |
Het |
| Rbm27 |
T |
C |
18: 42,450,746 (GRCm39) |
S509P |
probably damaging |
Het |
| Rnf126 |
C |
T |
10: 79,596,702 (GRCm39) |
A239T |
probably benign |
Het |
| Rnf44 |
C |
T |
13: 54,829,821 (GRCm39) |
E306K |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,416,520 (GRCm39) |
R1531G |
possibly damaging |
Het |
| Sf3b4 |
A |
G |
3: 96,080,953 (GRCm39) |
|
probably null |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Syt15 |
C |
A |
14: 33,943,159 (GRCm39) |
|
probably benign |
Het |
| Vcan |
T |
A |
13: 89,836,603 (GRCm39) |
E2980D |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,709,268 (GRCm39) |
|
probably benign |
Het |
| Vwa2 |
C |
T |
19: 56,869,570 (GRCm39) |
P2S |
unknown |
Het |
| Wdr77 |
G |
A |
3: 105,874,573 (GRCm39) |
V322I |
possibly damaging |
Het |
| Zfp12 |
C |
A |
5: 143,230,535 (GRCm39) |
Y287* |
probably null |
Het |
| Zfp937 |
T |
A |
2: 150,080,868 (GRCm39) |
Y299* |
probably null |
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 |
|
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'- TTGGCTGGCATCAAATCCAACAAAG -3'
(R):5'- CCCAGAAGGCATTCCCATTGAGAC -3'
Sequencing Primer
(F):5'- ACAAAGGCCAATAGTCGATCTC -3'
(R):5'- GCCTGGGGCATTTAACAATC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation