Incidental Mutation 'IGL02532:Lingo2'
ID |
297348 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lingo2
|
Ensembl Gene |
ENSMUSG00000045083 |
Gene Name |
leucine rich repeat and Ig domain containing 2 |
Synonyms |
Lrrn6c, LERN3, B230217C06Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
IGL02532
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
35706647-36951747 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35709171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 270
(K270E)
|
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: K270E
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000069772 Gene: ENSMUSG00000045083 AA Change: K270E
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: K270E
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000095754 Gene: ENSMUSG00000045083 AA Change: K270E
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: K270E
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103757 Gene: ENSMUSG00000045083 AA Change: K270E
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: K270E
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103759 Gene: ENSMUSG00000045083 AA Change: K270E
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: K270E
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000130423 Gene: ENSMUSG00000045083 AA Change: K270E
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
T |
C |
7: 28,947,645 (GRCm39) |
K15E |
possibly damaging |
Het |
Abca2 |
A |
G |
2: 25,325,148 (GRCm39) |
T381A |
probably benign |
Het |
Adcy1 |
T |
A |
11: 7,094,737 (GRCm39) |
N554K |
probably benign |
Het |
Adcy5 |
A |
G |
16: 35,092,453 (GRCm39) |
I605V |
possibly damaging |
Het |
Arhgap11a |
G |
T |
2: 113,664,021 (GRCm39) |
S754* |
probably null |
Het |
Arhgef28 |
T |
A |
13: 98,166,391 (GRCm39) |
D319V |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,474,327 (GRCm39) |
D2410G |
probably damaging |
Het |
Carmil2 |
T |
A |
8: 106,419,063 (GRCm39) |
|
probably null |
Het |
Catip |
A |
G |
1: 74,403,775 (GRCm39) |
N189S |
probably damaging |
Het |
Cd177 |
T |
C |
7: 24,444,674 (GRCm39) |
K636E |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,380,927 (GRCm39) |
T145A |
probably benign |
Het |
Cthrc1 |
T |
C |
15: 38,940,560 (GRCm39) |
|
probably benign |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Fas |
C |
A |
19: 34,293,999 (GRCm39) |
T118N |
probably damaging |
Het |
Fgd3 |
G |
A |
13: 49,439,237 (GRCm39) |
A253V |
probably damaging |
Het |
Fig4 |
A |
G |
10: 41,161,277 (GRCm39) |
|
probably benign |
Het |
Fubp3 |
T |
C |
2: 31,490,571 (GRCm39) |
|
probably benign |
Het |
Gria2 |
T |
A |
3: 80,614,306 (GRCm39) |
E578V |
probably damaging |
Het |
Gtpbp1 |
T |
A |
15: 79,604,278 (GRCm39) |
V662E |
probably benign |
Het |
Hbb-bt |
T |
C |
7: 103,463,081 (GRCm39) |
|
probably benign |
Het |
Ighv6-5 |
T |
A |
12: 114,380,424 (GRCm39) |
D50V |
probably benign |
Het |
Inpp5k |
T |
C |
11: 75,524,010 (GRCm39) |
|
probably benign |
Het |
Kalrn |
T |
C |
16: 34,181,216 (GRCm39) |
N141D |
probably damaging |
Het |
Kbtbd8 |
A |
G |
6: 95,103,517 (GRCm39) |
T389A |
probably benign |
Het |
Klhl6 |
C |
A |
16: 19,775,832 (GRCm39) |
R242L |
possibly damaging |
Het |
Kmt2b |
T |
C |
7: 30,286,314 (GRCm39) |
|
probably benign |
Het |
Krt13 |
A |
T |
11: 100,010,195 (GRCm39) |
L262Q |
probably damaging |
Het |
Mroh7 |
A |
G |
4: 106,577,788 (GRCm39) |
S297P |
probably benign |
Het |
Ndufs1 |
G |
A |
1: 63,209,298 (GRCm39) |
R22C |
probably damaging |
Het |
Nlrp5 |
T |
A |
7: 23,109,398 (GRCm39) |
S115T |
possibly damaging |
Het |
Nup50l |
A |
C |
6: 96,141,771 (GRCm39) |
S424R |
probably damaging |
Het |
Pfpl |
A |
T |
19: 12,406,209 (GRCm39) |
R153S |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
Psme1 |
T |
A |
14: 55,818,595 (GRCm39) |
Y223* |
probably null |
Het |
R3hdm1 |
T |
C |
1: 128,124,836 (GRCm39) |
|
probably null |
Het |
Rnf103 |
A |
G |
6: 71,486,809 (GRCm39) |
D480G |
probably benign |
Het |
Rnf103 |
T |
G |
6: 71,486,636 (GRCm39) |
S422R |
probably damaging |
Het |
Rps6ka2 |
T |
C |
17: 7,523,365 (GRCm39) |
V213A |
probably damaging |
Het |
Sort1 |
G |
T |
3: 108,233,036 (GRCm39) |
K203N |
probably benign |
Het |
Sugp1 |
A |
T |
8: 70,512,469 (GRCm39) |
K239N |
possibly damaging |
Het |
Sult2a8 |
C |
T |
7: 14,150,183 (GRCm39) |
R176K |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,320,291 (GRCm39) |
N888K |
probably damaging |
Het |
Vmn1r4 |
A |
C |
6: 56,934,135 (GRCm39) |
H213P |
possibly damaging |
Het |
Wdr45b |
G |
T |
11: 121,219,639 (GRCm39) |
T303K |
probably benign |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |