Incidental Mutation 'IGL03228:Ltb4r2'
| ID |
413798 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ltb4r2
|
| Ensembl Gene |
ENSMUSG00000040432 |
| Gene Name |
leukotriene B4 receptor 2 |
| Synonyms |
5830462O07Rik, BLT2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL03228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55998885-56002595 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55999408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 10
(N10Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001497]
[ENSMUST00000044554]
[ENSMUST00000057569]
|
| AlphaFold |
Q9JJL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001497
|
| SMART Domains |
Protein: ENSMUSP00000001497
Gene: ENSMUSG00000022219
| Domain | Start | End | E-Value | Type |
|---|
|
CAD
|
36 |
108 |
2.16e-41 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044554
AA Change: N10Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000048358
Gene: ENSMUSG00000040432
AA Change: N10Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
37 |
288 |
5.7e-31 |
PFAM |
|
low complexity region
|
309 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057569
|
| SMART Domains |
Protein: ENSMUSP00000051368
Gene: ENSMUSG00000046908
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
28 |
196 |
7.4e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
31 |
249 |
2e-8 |
PFAM |
|
Pfam:7tm_1
|
37 |
285 |
1.3e-42 |
PFAM |
|
Pfam:Serpentine_r_xa
|
54 |
201 |
2.8e-4 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228302
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced incidence and severity of autoantibody-induced inflammatory arthritis and decreased susceptibility to IgE antigen-dependent passive cutaneous anaphylaxis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid3a |
G |
A |
10: 79,786,578 (GRCm39) |
V444I |
possibly damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,397,650 (GRCm39) |
Y1021C |
probably damaging |
Het |
| Cbx1 |
A |
G |
11: 96,691,631 (GRCm39) |
|
probably benign |
Het |
| Cdk15 |
G |
T |
1: 59,297,912 (GRCm39) |
K106N |
possibly damaging |
Het |
| Itpkb |
A |
T |
1: 180,241,564 (GRCm39) |
R745W |
probably damaging |
Het |
| Kdr |
T |
A |
5: 76,117,708 (GRCm39) |
I682F |
probably damaging |
Het |
| Klhl1 |
T |
A |
14: 96,477,763 (GRCm39) |
E435V |
probably damaging |
Het |
| Lamp3 |
T |
A |
16: 19,494,817 (GRCm39) |
Y296F |
possibly damaging |
Het |
| Mmrn1 |
C |
T |
6: 60,921,876 (GRCm39) |
P111L |
probably benign |
Het |
| Nt5c |
A |
G |
11: 115,381,987 (GRCm39) |
Y107H |
probably damaging |
Het |
| Or2m12 |
A |
C |
16: 19,105,140 (GRCm39) |
L118V |
probably damaging |
Het |
| Or5p53 |
T |
A |
7: 107,533,330 (GRCm39) |
I201N |
possibly damaging |
Het |
| Or8h9 |
A |
G |
2: 86,789,050 (GRCm39) |
F251L |
probably benign |
Het |
| Piezo2 |
T |
A |
18: 63,186,133 (GRCm39) |
S1679C |
probably damaging |
Het |
| Plac8l1 |
T |
A |
18: 42,325,672 (GRCm39) |
S78C |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,485,942 (GRCm39) |
I549N |
probably damaging |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Slc6a20b |
G |
T |
9: 123,461,197 (GRCm39) |
Y65* |
probably null |
Het |
| Stx11 |
G |
A |
10: 12,816,956 (GRCm39) |
T256M |
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,026,686 (GRCm39) |
C3505R |
probably benign |
Het |
| Trim75 |
A |
G |
8: 65,436,006 (GRCm39) |
L148P |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,156,909 (GRCm39) |
N2311K |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,249 (GRCm39) |
H268R |
probably damaging |
Het |
|
| Other mutations in Ltb4r2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2077:Ltb4r2
|
UTSW |
14 |
55,999,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4076:Ltb4r2
|
UTSW |
14 |
56,000,398 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6221:Ltb4r2
|
UTSW |
14 |
55,999,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6247:Ltb4r2
|
UTSW |
14 |
56,000,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6519:Ltb4r2
|
UTSW |
14 |
56,000,438 (GRCm39) |
missense |
probably benign |
|
|
R6634:Ltb4r2
|
UTSW |
14 |
55,999,962 (GRCm39) |
splice site |
probably null |
|
|
R6709:Ltb4r2
|
UTSW |
14 |
55,999,990 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7626:Ltb4r2
|
UTSW |
14 |
56,000,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9302:Ltb4r2
|
UTSW |
14 |
55,999,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Ltb4r2
|
UTSW |
14 |
56,000,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation