Incidental Mutation 'IGL00586:Lmbrd2'
| ID |
5847 |
| 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 # |
IGL00586
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
9140637-9202569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9157382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 207
(V207M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090380]
[ENSMUST00000190131]
[ENSMUST00000227556]
|
| AlphaFold |
Q8C561 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090380
AA Change: V207M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
AA Change: V207M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LMBR1
|
8 |
546 |
4.2e-192 |
PFAM |
|
low complexity region
|
574 |
598 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190131
|
| SMART Domains |
Protein: ENSMUSP00000139997
Gene: ENSMUSG00000054115
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
65 |
105 |
2.3e-10 |
SMART |
|
LRR
|
170 |
194 |
5.3e-1 |
SMART |
|
LRR
|
195 |
219 |
5.3e-2 |
SMART |
|
LRR
|
220 |
245 |
1.2e-1 |
SMART |
|
LRR
|
299 |
324 |
1.2e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226149
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227556
AA Change: V207M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5b |
T |
C |
2: 15,074,746 (GRCm39) |
S76P |
probably benign |
Het |
| Asap3 |
A |
C |
4: 135,933,879 (GRCm39) |
D17A |
probably damaging |
Het |
| Ccdc24 |
C |
T |
4: 117,729,243 (GRCm39) |
R78H |
probably damaging |
Het |
| Crp |
T |
C |
1: 172,526,568 (GRCm39) |
F218L |
probably benign |
Het |
| Dab2 |
T |
C |
15: 6,459,306 (GRCm39) |
L385P |
probably benign |
Het |
| Dip2c |
C |
A |
13: 9,660,791 (GRCm39) |
T855N |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,137,302 (GRCm39) |
F269I |
possibly damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,205,400 (GRCm39) |
D396E |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,887,460 (GRCm39) |
V541A |
probably damaging |
Het |
| Gbgt1 |
A |
T |
2: 28,392,207 (GRCm39) |
|
probably null |
Het |
| Gm6871 |
A |
T |
7: 41,195,845 (GRCm39) |
D297E |
possibly damaging |
Het |
| Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
| Itgb6 |
T |
G |
2: 60,450,696 (GRCm39) |
D581A |
probably benign |
Het |
| Lce1a1 |
C |
T |
3: 92,554,470 (GRCm39) |
M1I |
probably null |
Het |
| Muc5b |
T |
A |
7: 141,395,129 (GRCm39) |
V45E |
unknown |
Het |
| Mybpc2 |
A |
G |
7: 44,154,806 (GRCm39) |
V977A |
probably damaging |
Het |
| Oas1c |
T |
C |
5: 120,946,744 (GRCm39) |
T29A |
probably benign |
Het |
| Pdzd2 |
G |
T |
15: 12,365,853 (GRCm39) |
|
probably null |
Het |
| Plk2 |
T |
C |
13: 110,532,912 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Prss1l |
T |
C |
6: 41,373,049 (GRCm39) |
I107T |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,443,983 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
C |
T |
14: 56,658,539 (GRCm39) |
T76I |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,854,350 (GRCm39) |
V624A |
possibly damaging |
Het |
| Sin3b |
T |
C |
8: 73,483,628 (GRCm39) |
V1005A |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,495 (GRCm39) |
V358A |
possibly damaging |
Het |
| Zfp120 |
T |
C |
2: 149,961,748 (GRCm39) |
I67V |
possibly damaging |
Het |
| Zfp942 |
A |
T |
17: 22,147,605 (GRCm39) |
H341Q |
probably damaging |
Het |
|
| Other mutations in Lmbrd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02293:Lmbrd2
|
APN |
15 |
9,172,276 (GRCm39) |
missense |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation