Incidental Mutation 'IGL02293:Lmbrd2'
| ID |
290113 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lmbrd2
|
| Ensembl Gene |
ENSMUSG00000039704 |
| Gene Name |
LMBR1 domain containing 2 |
| Synonyms |
9930036E21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
IGL02293
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
9140637-9202569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9172276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 357
(S357P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090380]
[ENSMUST00000227556]
|
| AlphaFold |
Q8C561 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090380
AA Change: S357P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
AA Change: S357P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
8 |
546 |
4.2e-192 |
PFAM |
|
low complexity region
|
574 |
598 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227216
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227556
AA Change: S357P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
G |
13: 30,565,340 (GRCm39) |
K135R |
probably benign |
Het |
| Ahdc1 |
C |
T |
4: 132,792,929 (GRCm39) |
A1390V |
possibly damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,559 (GRCm39) |
|
probably null |
Het |
| Bltp2 |
T |
A |
11: 78,162,736 (GRCm39) |
L866H |
probably damaging |
Het |
| C6 |
T |
A |
15: 4,784,785 (GRCm39) |
I217K |
probably benign |
Het |
| Ccr1l1 |
G |
A |
9: 123,777,973 (GRCm39) |
T158I |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,110,633 (GRCm39) |
|
probably benign |
Het |
| Ect2l |
A |
G |
10: 18,016,259 (GRCm39) |
|
probably null |
Het |
| Eif1ad11 |
A |
G |
12: 87,994,033 (GRCm39) |
N87S |
probably benign |
Het |
| Endov |
T |
C |
11: 119,395,999 (GRCm39) |
|
probably benign |
Het |
| Fpr-rs7 |
A |
G |
17: 20,334,232 (GRCm39) |
V86A |
probably benign |
Het |
| Gle1 |
A |
G |
2: 29,847,772 (GRCm39) |
I660V |
probably benign |
Het |
| Hk2 |
A |
T |
6: 82,720,956 (GRCm39) |
D159E |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,540,666 (GRCm39) |
V2881A |
probably damaging |
Het |
| Hspa14 |
T |
C |
2: 3,512,071 (GRCm39) |
K68E |
probably damaging |
Het |
| Ifi207 |
A |
T |
1: 173,551,314 (GRCm39) |
I974N |
probably damaging |
Het |
| Igkv4-71 |
A |
C |
6: 69,220,306 (GRCm39) |
S42A |
possibly damaging |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Klhl32 |
A |
G |
4: 24,626,935 (GRCm39) |
Y555H |
probably damaging |
Het |
| Mfsd1 |
T |
A |
3: 67,505,425 (GRCm39) |
V380D |
probably damaging |
Het |
| Ndc80 |
A |
G |
17: 71,821,273 (GRCm39) |
F225S |
probably damaging |
Het |
| Or2ak7 |
T |
C |
11: 58,574,996 (GRCm39) |
V99A |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,940,874 (GRCm39) |
V1355A |
probably damaging |
Het |
| Prkd1 |
A |
G |
12: 50,536,761 (GRCm39) |
S108P |
probably damaging |
Het |
| Ptges3 |
C |
T |
10: 127,911,204 (GRCm39) |
|
probably benign |
Het |
| Rabggta |
G |
T |
14: 55,959,153 (GRCm39) |
L5M |
probably benign |
Het |
| Rag1 |
C |
T |
2: 101,473,391 (GRCm39) |
D584N |
probably benign |
Het |
| Rasl12 |
A |
G |
9: 65,315,593 (GRCm39) |
D79G |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,422,186 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
T |
C |
18: 36,666,268 (GRCm39) |
L483P |
probably benign |
Het |
|
| Other mutations in Lmbrd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Lmbrd2
|
APN |
15 |
9,157,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00864:Lmbrd2
|
APN |
15 |
9,175,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01554:Lmbrd2
|
APN |
15 |
9,165,906 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02142:Lmbrd2
|
APN |
15 |
9,186,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02176:Lmbrd2
|
APN |
15 |
9,182,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02692:Lmbrd2
|
APN |
15 |
9,149,155 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03101:Lmbrd2
|
APN |
15 |
9,186,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Lmbrd2
|
UTSW |
15 |
9,184,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0370:Lmbrd2
|
UTSW |
15 |
9,165,939 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0379:Lmbrd2
|
UTSW |
15 |
9,149,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0513:Lmbrd2
|
UTSW |
15 |
9,194,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1610:Lmbrd2
|
UTSW |
15 |
9,186,699 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1628:Lmbrd2
|
UTSW |
15 |
9,182,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Lmbrd2
|
UTSW |
15 |
9,177,838 (GRCm39) |
nonsense |
probably null |
|
|
R2422:Lmbrd2
|
UTSW |
15 |
9,194,852 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3614:Lmbrd2
|
UTSW |
15 |
9,177,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3924:Lmbrd2
|
UTSW |
15 |
9,149,624 (GRCm39) |
missense |
probably benign |
|
|
R4014:Lmbrd2
|
UTSW |
15 |
9,151,672 (GRCm39) |
splice site |
probably benign |
|
|
R4298:Lmbrd2
|
UTSW |
15 |
9,165,882 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5126:Lmbrd2
|
UTSW |
15 |
9,194,788 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5699:Lmbrd2
|
UTSW |
15 |
9,175,269 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5841:Lmbrd2
|
UTSW |
15 |
9,182,657 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5974:Lmbrd2
|
UTSW |
15 |
9,172,202 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5988:Lmbrd2
|
UTSW |
15 |
9,182,493 (GRCm39) |
splice site |
probably null |
|
|
R6179:Lmbrd2
|
UTSW |
15 |
9,149,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6666:Lmbrd2
|
UTSW |
15 |
9,151,656 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7180:Lmbrd2
|
UTSW |
15 |
9,175,283 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7269:Lmbrd2
|
UTSW |
15 |
9,194,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Lmbrd2
|
UTSW |
15 |
9,165,906 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8017:Lmbrd2
|
UTSW |
15 |
9,172,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8066:Lmbrd2
|
UTSW |
15 |
9,172,172 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8110:Lmbrd2
|
UTSW |
15 |
9,175,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:Lmbrd2
|
UTSW |
15 |
9,178,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8401:Lmbrd2
|
UTSW |
15 |
9,156,294 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8922:Lmbrd2
|
UTSW |
15 |
9,172,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9009:Lmbrd2
|
UTSW |
15 |
9,157,311 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9434:Lmbrd2
|
UTSW |
15 |
9,157,314 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2015-04-16 |
Incidental Mutation