Incidental Mutation 'R8909:Lingo2'
ID |
678493 |
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 |
068700-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.109)
|
Stock # |
R8909 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
35706647-36951747 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35708349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 544
(S544P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069772
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065173]
[ENSMUST00000098151]
[ENSMUST00000108122]
[ENSMUST00000108124]
[ENSMUST00000164772]
|
AlphaFold |
Q3URE9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065173
AA Change: S544P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000069772 Gene: ENSMUSG00000045083 AA Change: S544P
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: S544P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000095754 Gene: ENSMUSG00000045083 AA Change: S544P
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: S544P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103757 Gene: ENSMUSG00000045083 AA Change: S544P
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: S544P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103759 Gene: ENSMUSG00000045083 AA Change: S544P
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: S544P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000130423 Gene: ENSMUSG00000045083 AA Change: S544P
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 |
0.2148 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
96% (47/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aopep |
G |
T |
13: 63,388,111 (GRCm39) |
R698L |
possibly damaging |
Het |
Btnl10 |
T |
C |
11: 58,813,198 (GRCm39) |
C276R |
probably benign |
Het |
Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
Cavin4 |
G |
A |
4: 48,672,421 (GRCm39) |
G289R |
probably benign |
Het |
Cdh9 |
T |
C |
15: 16,848,610 (GRCm39) |
F430S |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,014,086 (GRCm39) |
I1246T |
possibly damaging |
Het |
Chd8 |
C |
T |
14: 52,450,389 (GRCm39) |
V1490M |
possibly damaging |
Het |
Clec2g |
A |
G |
6: 128,958,195 (GRCm39) |
N137S |
probably benign |
Het |
Cntn6 |
T |
A |
6: 104,825,093 (GRCm39) |
S878T |
probably benign |
Het |
Cryga |
G |
T |
1: 65,142,173 (GRCm39) |
S73R |
probably benign |
Het |
Dach1 |
T |
C |
14: 98,406,120 (GRCm39) |
D209G |
probably damaging |
Het |
Dnai4 |
T |
G |
4: 102,944,607 (GRCm39) |
E248A |
possibly damaging |
Het |
Duox2 |
A |
G |
2: 122,126,862 (GRCm39) |
S218P |
probably benign |
Het |
Fbn2 |
T |
A |
18: 58,192,508 (GRCm39) |
Q1491L |
possibly damaging |
Het |
Foxg1 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
12: 49,431,475 (GRCm39) |
|
probably benign |
Het |
Glra3 |
A |
T |
8: 56,444,159 (GRCm39) |
|
probably null |
Het |
Helz |
A |
G |
11: 107,556,834 (GRCm39) |
D1284G |
possibly damaging |
Het |
Iqsec3 |
G |
A |
6: 121,390,118 (GRCm39) |
A451V |
unknown |
Het |
Kat6b |
A |
G |
14: 21,719,214 (GRCm39) |
T1189A |
probably benign |
Het |
Lama1 |
T |
A |
17: 68,079,736 (GRCm39) |
F1203Y |
|
Het |
Llcfc1 |
T |
C |
6: 41,661,525 (GRCm39) |
V25A |
probably benign |
Het |
Map1a |
A |
C |
2: 121,129,391 (GRCm39) |
H143P |
probably damaging |
Het |
Mbd5 |
T |
C |
2: 49,169,233 (GRCm39) |
V1468A |
probably benign |
Het |
Meis3 |
T |
A |
7: 15,919,385 (GRCm39) |
M367K |
possibly damaging |
Het |
Myo3b |
G |
A |
2: 70,083,440 (GRCm39) |
A698T |
probably damaging |
Het |
Nbn |
A |
T |
4: 15,970,833 (GRCm39) |
D272V |
probably damaging |
Het |
Or51a43 |
A |
G |
7: 103,718,032 (GRCm39) |
S69P |
probably damaging |
Het |
Or56a5 |
C |
T |
7: 104,793,249 (GRCm39) |
V84I |
probably benign |
Het |
Or7g20 |
G |
T |
9: 18,946,888 (GRCm39) |
M156I |
probably benign |
Het |
Or8k27 |
C |
T |
2: 86,276,082 (GRCm39) |
M81I |
possibly damaging |
Het |
Os9 |
C |
A |
10: 126,956,825 (GRCm39) |
|
probably null |
Het |
Pard3b |
A |
G |
1: 62,383,294 (GRCm39) |
D796G |
probably benign |
Het |
Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pkp4 |
A |
G |
2: 59,184,758 (GRCm39) |
E1180G |
possibly damaging |
Het |
Plod1 |
T |
A |
4: 148,011,563 (GRCm39) |
K221* |
probably null |
Het |
Ppp6r3 |
T |
C |
19: 3,509,461 (GRCm39) |
T795A |
probably benign |
Het |
Pramel15 |
T |
C |
4: 144,103,553 (GRCm39) |
Q191R |
probably benign |
Het |
Prokr2 |
T |
C |
2: 132,215,723 (GRCm39) |
E246G |
probably damaging |
Het |
Psmb7 |
A |
G |
2: 38,503,481 (GRCm39) |
M178T |
probably damaging |
Het |
Rbm39 |
C |
T |
2: 156,019,697 (GRCm39) |
|
probably benign |
Het |
Saa1 |
T |
C |
7: 46,390,773 (GRCm39) |
N46S |
probably benign |
Het |
Samd12 |
A |
G |
15: 53,521,853 (GRCm39) |
L119P |
probably damaging |
Het |
Sdc3 |
A |
G |
4: 130,546,094 (GRCm39) |
E151G |
unknown |
Het |
Serpina1a |
T |
C |
12: 103,820,938 (GRCm39) |
K370E |
probably damaging |
Het |
Slc49a3 |
C |
T |
5: 108,592,432 (GRCm39) |
V253I |
probably benign |
Het |
Tnrc18 |
C |
A |
5: 142,762,131 (GRCm39) |
S681I |
|
Het |
Ulk2 |
C |
T |
11: 61,690,380 (GRCm39) |
G636R |
probably benign |
Het |
V1ra8 |
T |
C |
6: 90,179,938 (GRCm39) |
L47P |
possibly damaging |
Het |
Wasf3 |
T |
C |
5: 146,392,410 (GRCm39) |
L160P |
|
Het |
Zbtb34 |
A |
C |
2: 33,301,701 (GRCm39) |
V280G |
possibly damaging |
Het |
Zfp646 |
T |
C |
7: 127,478,515 (GRCm39) |
Y231H |
probably 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 |
|
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 |
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'- CATTTTCATGTTGAACCTCCTGGG -3'
(R):5'- TGCCCAGGATCAAGACAGTG -3'
Sequencing Primer
(F):5'- TTGAACCTCCTGGGGCCAG -3'
(R):5'- ATGTTTGCATCGCGAGCAAC -3'
|
Posted On |
2021-08-02 |