Incidental Mutation 'R8017:Lmbrd2'
| ID |
656311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmbrd2
|
| Ensembl Gene |
ENSMUSG00000039704 |
| Gene Name |
LMBR1 domain containing 2 |
| Synonyms |
9930036E21Rik |
| MMRRC Submission |
067457-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R8017 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
9140637-9202569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9172317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 370
(N370K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090380]
[ENSMUST00000227556]
|
| AlphaFold |
Q8C561 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090380
AA Change: N370K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000087858
Gene: ENSMUSG00000039704
AA Change: N370K
| 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: ENSMUST00000227556
AA Change: N370K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
95% (36/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
G |
2: 156,397,876 (GRCm39) |
I296S |
probably benign |
Het |
| Acsl5 |
A |
G |
19: 55,257,228 (GRCm39) |
I42V |
probably benign |
Het |
| Adam25 |
T |
A |
8: 41,207,124 (GRCm39) |
M130K |
possibly damaging |
Het |
| Atosb |
A |
T |
4: 43,034,413 (GRCm39) |
F394Y |
probably damaging |
Het |
| Bcl2l2 |
T |
A |
14: 55,121,840 (GRCm39) |
M1K |
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,342,899 (GRCm39) |
N724S |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,648,748 (GRCm39) |
S211P |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,484 (GRCm39) |
V239E |
possibly damaging |
Het |
| Dcn |
G |
A |
10: 97,319,397 (GRCm39) |
R58Q |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,877,949 (GRCm39) |
N2678S |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,140,283 (GRCm39) |
S173P |
probably damaging |
Het |
| Fbxo24 |
C |
A |
5: 137,611,073 (GRCm39) |
M572I |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,447,889 (GRCm39) |
E145G |
probably benign |
Het |
| Ica1 |
A |
G |
6: 8,658,286 (GRCm39) |
V277A |
probably benign |
Het |
| Idi1 |
G |
A |
13: 8,937,974 (GRCm39) |
S140N |
probably benign |
Het |
| Kank1 |
TGCGA |
T |
19: 25,388,568 (GRCm39) |
|
probably null |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kif20b |
T |
C |
19: 34,917,279 (GRCm39) |
V603A |
probably damaging |
Het |
| Klc2 |
T |
C |
19: 5,161,867 (GRCm39) |
K276R |
probably benign |
Het |
| Map2k5 |
G |
T |
9: 63,246,403 (GRCm39) |
A108D |
probably damaging |
Het |
| Obox2 |
T |
C |
7: 15,130,974 (GRCm39) |
S69P |
possibly damaging |
Het |
| Or2w2 |
G |
A |
13: 21,758,648 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
A |
C |
2: 89,969,170 (GRCm39) |
F104L |
probably benign |
Het |
| Or4f57 |
G |
A |
2: 111,790,918 (GRCm39) |
P167S |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,783 (GRCm39) |
E613G |
probably damaging |
Het |
| Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
| Rab2a |
T |
C |
4: 8,604,444 (GRCm39) |
|
probably null |
Het |
| Rsph4a |
A |
C |
10: 33,785,455 (GRCm39) |
R455S |
probably damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,850,840 (GRCm39) |
T439A |
probably damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tmem151a |
T |
C |
19: 5,132,588 (GRCm39) |
E206G |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,231,204 (GRCm39) |
C222Y |
probably damaging |
Het |
| Tnfrsf11b |
C |
T |
15: 54,117,598 (GRCm39) |
W219* |
probably null |
Het |
| Ttc36 |
T |
C |
9: 44,710,898 (GRCm39) |
E144G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,597,801 (GRCm39) |
R19704H |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,091,403 (GRCm39) |
I1137S |
possibly damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,826,637 (GRCm39) |
L226P |
probably damaging |
Het |
| Zbtb8b |
G |
A |
4: 129,322,238 (GRCm39) |
R408W |
probably damaging |
Het |
| Zfp268 |
A |
G |
4: 145,349,138 (GRCm39) |
T192A |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,896,193 (GRCm39) |
V308E |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTGATTTATTCAGTTCAAAGGCA -3'
(R):5'- AAGTCAGCATTGTATTGATGAAACA -3'
Sequencing Primer
(F):5'- TATTCAGTTCAAAGGCACCGTCG -3'
(R):5'- ATAGGGGACTTTTGGGATAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation