Incidental Mutation 'R4328:Lingo2'
| ID |
324461 |
| 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 |
041098-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R4328 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
35706647-36951747 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35708462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 506
(D506V)
|
| 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: D506V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069772
Gene: ENSMUSG00000045083
AA Change: D506V
| 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: D506V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095754
Gene: ENSMUSG00000045083
AA Change: D506V
| 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: D506V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103757
Gene: ENSMUSG00000045083
AA Change: D506V
| 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: D506V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103759
Gene: ENSMUSG00000045083
AA Change: D506V
| 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: D506V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130423
Gene: ENSMUSG00000045083
AA Change: D506V
| 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 |
0.1896 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
T |
C |
9: 63,306,238 (GRCm39) |
K89R |
probably damaging |
Het |
| Aadacl4fm2 |
T |
A |
4: 144,282,164 (GRCm39) |
K209N |
possibly damaging |
Het |
| Alcam |
T |
C |
16: 52,073,579 (GRCm39) |
N549S |
possibly damaging |
Het |
| Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
| Bin3 |
A |
G |
14: 70,356,054 (GRCm39) |
I4V |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,720,961 (GRCm39) |
T688K |
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
C |
T |
1: 130,375,104 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,380,220 (GRCm39) |
C253S |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,607,671 (GRCm39) |
T386S |
possibly damaging |
Het |
| Col13a1 |
T |
C |
10: 61,699,758 (GRCm39) |
T476A |
unknown |
Het |
| Crym |
C |
T |
7: 119,794,562 (GRCm39) |
G219E |
probably damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,458,878 (GRCm39) |
I776F |
probably damaging |
Het |
| Eif1ad16 |
T |
A |
12: 87,985,285 (GRCm39) |
D86V |
possibly damaging |
Het |
| Erlec1 |
C |
T |
11: 30,899,972 (GRCm39) |
E166K |
probably benign |
Het |
| Gm3336 |
C |
T |
8: 71,173,234 (GRCm39) |
T82I |
probably benign |
Het |
| Gm3604 |
A |
T |
13: 62,517,079 (GRCm39) |
S425R |
possibly damaging |
Het |
| Gpn2 |
T |
C |
4: 133,315,919 (GRCm39) |
V203A |
probably benign |
Het |
| Gskip |
T |
C |
12: 105,666,960 (GRCm39) |
Y113H |
probably damaging |
Het |
| Hcn2 |
T |
C |
10: 79,560,445 (GRCm39) |
Y259H |
probably damaging |
Het |
| Hira |
C |
A |
16: 18,715,362 (GRCm39) |
Q87K |
probably benign |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kirrel1 |
T |
C |
3: 86,992,081 (GRCm39) |
|
probably benign |
Het |
| Klhl40 |
A |
G |
9: 121,607,956 (GRCm39) |
D372G |
probably benign |
Het |
| Ly6e |
C |
A |
15: 74,830,370 (GRCm39) |
N73K |
probably damaging |
Het |
| Med12l |
T |
C |
3: 59,172,688 (GRCm39) |
S1813P |
probably benign |
Het |
| Med24 |
A |
G |
11: 98,597,942 (GRCm39) |
|
probably null |
Het |
| Niban1 |
T |
C |
1: 151,512,169 (GRCm39) |
S24P |
possibly damaging |
Het |
| Nup210l |
C |
A |
3: 90,083,142 (GRCm39) |
|
probably null |
Het |
| Or2t1 |
T |
A |
14: 14,328,193 (GRCm38) |
F27L |
probably damaging |
Het |
| Or5w12 |
C |
A |
2: 87,502,008 (GRCm39) |
R234S |
possibly damaging |
Het |
| Or7g34 |
T |
A |
9: 19,478,318 (GRCm39) |
M121L |
possibly damaging |
Het |
| Or8d1 |
T |
C |
9: 38,767,132 (GRCm39) |
M258T |
possibly damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
| Pak3 |
T |
C |
X: 142,516,205 (GRCm39) |
|
probably null |
Het |
| Palm |
G |
A |
10: 79,643,520 (GRCm39) |
G83S |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,331,663 (GRCm39) |
F140S |
possibly damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,515,540 (GRCm39) |
C34* |
probably null |
Het |
| Ppp3cb |
A |
T |
14: 20,581,016 (GRCm39) |
I136K |
probably damaging |
Het |
| Prep |
T |
C |
10: 44,996,745 (GRCm39) |
V341A |
probably benign |
Het |
| Prickle4 |
C |
A |
17: 47,999,543 (GRCm39) |
G337C |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,422,627 (GRCm39) |
Y627N |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,782,484 (GRCm39) |
Y1953C |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,064,137 (GRCm39) |
V708D |
probably damaging |
Het |
| Tent5b |
C |
T |
4: 133,213,914 (GRCm39) |
Q262* |
probably null |
Het |
| Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
T |
A |
2: 120,810,991 (GRCm39) |
N156K |
probably damaging |
Het |
| Ttyh1 |
A |
T |
7: 4,133,580 (GRCm39) |
D295V |
probably damaging |
Het |
| Twsg1 |
T |
C |
17: 66,255,733 (GRCm39) |
T14A |
probably benign |
Het |
| Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
| Zfp239 |
T |
C |
6: 117,848,745 (GRCm39) |
L161P |
probably damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,448,432 (GRCm39) |
T199A |
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 |
|
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 |
|
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'- GCACATACTCAAGGTCAATGC -3'
(R):5'- GCGTTTTATCACCACCAAGTCC -3'
Sequencing Primer
(F):5'- ACTCAAGGTCAATGCTGTTTTTG -3'
(R):5'- GTTTTATCACCACCAAGTCCAACGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation