Incidental Mutation 'R6801:Lingo2'
| ID |
533331 |
| 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 |
044914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R6801 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
35706647-36951747 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35709566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 138
(E138V)
|
| 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: E138V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069772
Gene: ENSMUSG00000045083
AA Change: E138V
| 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: E138V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095754
Gene: ENSMUSG00000045083
AA Change: E138V
| 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: E138V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103757
Gene: ENSMUSG00000045083
AA Change: E138V
| 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: E138V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103759
Gene: ENSMUSG00000045083
AA Change: E138V
| 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: E138V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130423
Gene: ENSMUSG00000045083
AA Change: E138V
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,174,680 (GRCm39) |
Y695F |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,759,892 (GRCm39) |
D545G |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,643,159 (GRCm39) |
E1457G |
possibly damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,655,524 (GRCm39) |
I747F |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
| C2cd6 |
TC |
T |
1: 59,133,742 (GRCm39) |
|
probably null |
Het |
| Ccdc90b |
A |
G |
7: 92,216,943 (GRCm39) |
T72A |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,554,497 (GRCm39) |
E352G |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,277,743 (GRCm39) |
E953G |
probably benign |
Het |
| Dchs2 |
T |
A |
3: 83,035,841 (GRCm39) |
M196K |
probably benign |
Het |
| Ddx10 |
G |
A |
9: 53,159,207 (GRCm39) |
Q33* |
probably null |
Het |
| Dennd4b |
T |
A |
3: 90,176,086 (GRCm39) |
V201E |
probably damaging |
Het |
| Fbn2 |
T |
A |
18: 58,246,420 (GRCm39) |
H494L |
probably benign |
Het |
| Fbxw13 |
G |
A |
9: 109,023,795 (GRCm39) |
A83V |
probably null |
Het |
| Fxr1 |
A |
G |
3: 34,108,452 (GRCm39) |
D321G |
possibly damaging |
Het |
| Galm |
A |
G |
17: 80,489,053 (GRCm39) |
H233R |
probably benign |
Het |
| Gm7298 |
A |
G |
6: 121,752,768 (GRCm39) |
T837A |
probably benign |
Het |
| Gmppa |
C |
G |
1: 75,418,391 (GRCm39) |
S258C |
possibly damaging |
Het |
| Hk1 |
T |
G |
10: 62,116,910 (GRCm39) |
E645A |
probably damaging |
Het |
| Igkv1-132 |
A |
G |
6: 67,737,324 (GRCm39) |
T97A |
probably damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,084,716 (GRCm39) |
F547L |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Myb |
T |
C |
10: 21,020,865 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
A |
G |
1: 9,753,353 (GRCm39) |
V243A |
probably benign |
Het |
| Mylk4 |
C |
T |
13: 32,912,393 (GRCm39) |
S189N |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,855,206 (GRCm39) |
L299* |
probably null |
Het |
| Or2y16 |
A |
G |
11: 49,335,169 (GRCm39) |
M164V |
probably benign |
Het |
| Or4k77 |
A |
T |
2: 111,199,394 (GRCm39) |
Q139L |
probably benign |
Het |
| Or4x12-ps1 |
A |
T |
2: 89,915,953 (GRCm39) |
I284N |
probably damaging |
Het |
| Or5w1b |
A |
G |
2: 87,475,667 (GRCm39) |
Y267H |
probably benign |
Het |
| Or8g19 |
A |
T |
9: 39,055,506 (GRCm39) |
I37F |
probably benign |
Het |
| Oxld1 |
A |
T |
11: 120,347,650 (GRCm39) |
D182E |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,017 (GRCm39) |
L295Q |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prss33 |
A |
G |
17: 24,053,813 (GRCm39) |
L88P |
possibly damaging |
Het |
| Ralgds |
A |
G |
2: 28,438,448 (GRCm39) |
Y596C |
probably damaging |
Het |
| Rftn2 |
A |
G |
1: 55,233,418 (GRCm39) |
I379T |
possibly damaging |
Het |
| Rnf214 |
C |
T |
9: 45,807,403 (GRCm39) |
E267K |
probably damaging |
Het |
| Rpp14 |
T |
C |
14: 8,083,717 (GRCm38) |
|
probably benign |
Het |
| Rpusd2 |
A |
G |
2: 118,865,876 (GRCm39) |
Y191C |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,341,807 (GRCm39) |
M1L |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,088,795 (GRCm39) |
D434G |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,192,010 (GRCm39) |
S888L |
probably benign |
Het |
| Suv39h2 |
C |
T |
2: 3,465,458 (GRCm39) |
R299K |
probably benign |
Het |
| Trappc4 |
A |
T |
9: 44,315,685 (GRCm39) |
I176N |
probably damaging |
Het |
| Trim12c |
A |
T |
7: 103,997,337 (GRCm39) |
V73E |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
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 |
|
R4474:Lingo2
|
UTSW |
4 |
35,708,810 (GRCm39) |
missense |
probably benign |
|
|
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'- TTCAGATGCAGGGCGATGAG -3'
(R):5'- GCATAAACCCTGAAGAGTTCATCTC -3'
Sequencing Primer
(F):5'- GGAAAGGGCTTCTGTTGGTAC -3'
(R):5'- ACCCTGAAGAGTTCATCTCATATC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation