Incidental Mutation 'R6634:Ltb4r2'
| ID |
525413 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ltb4r2
|
| Ensembl Gene |
ENSMUSG00000040432 |
| Gene Name |
leukotriene B4 receptor 2 |
| Synonyms |
5830462O07Rik, BLT2 |
| MMRRC Submission |
044756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6634 (G1)
|
| Quality Score |
109.008 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55998885-56002595 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 55999962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051368
(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 |
possibly damaging
Transcript: ENSMUST00000044554
AA Change: F194L
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048358
Gene: ENSMUSG00000040432
AA Change: F194L
| 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 null
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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
97% (31/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,094,127 (GRCm39) |
|
probably null |
Het |
| Alox12b |
C |
A |
11: 69,059,647 (GRCm39) |
Y566* |
probably null |
Het |
| Chl1 |
T |
A |
6: 103,667,220 (GRCm39) |
S403R |
probably damaging |
Het |
| Cpa5 |
T |
A |
6: 30,626,363 (GRCm39) |
D241E |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Cyp2t4 |
C |
A |
7: 26,855,213 (GRCm39) |
C121* |
probably null |
Het |
| Dkkl1 |
C |
A |
7: 44,859,882 (GRCm39) |
R56L |
possibly damaging |
Het |
| Ebf3 |
A |
G |
7: 136,802,889 (GRCm39) |
V387A |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,784,609 (GRCm39) |
M2797T |
probably benign |
Het |
| Fer1l5 |
A |
G |
1: 36,450,466 (GRCm39) |
T1212A |
probably damaging |
Het |
| Galnt16 |
T |
A |
12: 80,565,944 (GRCm39) |
M1K |
probably null |
Het |
| Gm5800 |
A |
G |
14: 51,953,595 (GRCm39) |
S7P |
possibly damaging |
Het |
| Gstp1 |
T |
A |
19: 4,085,510 (GRCm39) |
H199L |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,345,026 (GRCm39) |
S1940P |
probably benign |
Het |
| Igkv8-24 |
C |
T |
6: 70,194,365 (GRCm39) |
W14* |
probably null |
Het |
| Iqcd |
C |
A |
5: 120,738,556 (GRCm39) |
Q125K |
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,553,413 (GRCm39) |
D812E |
probably damaging |
Het |
| Morc2a |
T |
C |
11: 3,622,376 (GRCm39) |
|
probably null |
Het |
| Myh1 |
A |
T |
11: 67,099,890 (GRCm39) |
N600I |
possibly damaging |
Het |
| Nedd9 |
T |
A |
13: 41,465,584 (GRCm39) |
K685N |
probably damaging |
Het |
| Or10aa3 |
A |
G |
1: 173,878,535 (GRCm39) |
I199V |
probably benign |
Het |
| Otogl |
A |
C |
10: 107,698,165 (GRCm39) |
V735G |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 81,964,656 (GRCm39) |
Y274* |
probably null |
Het |
| Pias1 |
A |
T |
9: 62,826,706 (GRCm39) |
I252N |
probably damaging |
Het |
| Pitpnm3 |
T |
C |
11: 71,942,755 (GRCm39) |
D844G |
probably null |
Het |
| Satb2 |
G |
T |
1: 56,884,880 (GRCm39) |
S348* |
probably null |
Het |
| Sfxn1 |
T |
A |
13: 54,247,048 (GRCm39) |
V180D |
probably damaging |
Het |
| Slc35g3 |
A |
T |
11: 69,651,109 (GRCm39) |
V314D |
probably damaging |
Het |
| Tmem200c |
C |
A |
17: 69,149,101 (GRCm39) |
D561E |
probably benign |
Het |
| Usp53 |
T |
A |
3: 122,757,935 (GRCm39) |
Q69L |
probably benign |
Het |
|
| Other mutations in Ltb4r2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03228:Ltb4r2
|
APN |
14 |
55,999,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCGGTGTACTACGTGTG -3'
(R):5'- GACATAGAGCACTGGGTTGACG -3'
Sequencing Primer
(F):5'- TCAGCATGTACGCCAGC -3'
(R):5'- ACTGGGTTGACGCTGGAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation