Incidental Mutation 'R6806:Or51q1'
| ID |
537487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51q1
|
| Ensembl Gene |
ENSMUSG00000094520 |
| Gene Name |
olfactory receptor family 51 subfamily Q member 1 |
| Synonyms |
Olfr635, GA_x6K02T2PBJ9-6713641-6714588, MOR5-2 |
| MMRRC Submission |
044919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R6806 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103628383-103629348 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 103628771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 124
(R124L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098185]
[ENSMUST00000209473]
|
| AlphaFold |
K7N6B1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098185
AA Change: R130L
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095788
Gene: ENSMUSG00000094520
AA Change: R130L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
39 |
318 |
1.2e-119 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
43 |
182 |
1.3e-9 |
PFAM |
|
Pfam:7tm_1
|
49 |
300 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209473
AA Change: R124L
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
95% (39/41) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
A |
G |
7: 76,075,669 (GRCm39) |
Y437C |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,345,207 (GRCm39) |
D132E |
probably damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,288,098 (GRCm39) |
S258P |
probably damaging |
Het |
| Bach2 |
T |
A |
4: 32,575,301 (GRCm39) |
M509K |
possibly damaging |
Het |
| Ccdc186 |
T |
A |
19: 56,788,561 (GRCm39) |
K549N |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,094 (GRCm39) |
R238H |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 99,868,374 (GRCm39) |
C30Y |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,216,342 (GRCm39) |
Q520R |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,411 (GRCm39) |
|
probably null |
Het |
| Ebna1bp2 |
T |
C |
4: 118,478,174 (GRCm39) |
C16R |
probably benign |
Het |
| Grin2b |
A |
G |
6: 135,751,826 (GRCm39) |
Y579H |
possibly damaging |
Het |
| Ifi206 |
C |
T |
1: 173,309,137 (GRCm39) |
M286I |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,492,908 (GRCm39) |
V2478I |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,950 (GRCm39) |
E6G |
unknown |
Het |
| Ltbp2 |
T |
C |
12: 84,856,012 (GRCm39) |
S744G |
possibly damaging |
Het |
| Magi3 |
T |
A |
3: 103,954,285 (GRCm39) |
N684I |
possibly damaging |
Het |
| Muc16 |
A |
G |
9: 18,449,206 (GRCm39) |
|
probably null |
Het |
| Nphp4 |
G |
T |
4: 152,622,558 (GRCm39) |
Q614H |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,217,509 (GRCm39) |
I11T |
probably damaging |
Het |
| Pank2 |
T |
C |
2: 131,104,627 (GRCm39) |
|
probably benign |
Het |
| Prss58 |
A |
T |
6: 40,874,666 (GRCm39) |
N58K |
probably damaging |
Het |
| Ptk7 |
C |
T |
17: 46,884,454 (GRCm39) |
V759M |
probably damaging |
Het |
| Rassf7 |
A |
G |
7: 140,796,722 (GRCm39) |
T28A |
probably damaging |
Het |
| Rbm45 |
C |
T |
2: 76,210,804 (GRCm39) |
T445I |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rsrc2 |
T |
G |
5: 123,877,594 (GRCm39) |
|
probably benign |
Het |
| Saxo2 |
A |
T |
7: 82,284,240 (GRCm39) |
I206N |
probably benign |
Het |
| Sh3d19 |
T |
A |
3: 86,011,640 (GRCm39) |
Y409N |
probably damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,851,032 (GRCm39) |
N365K |
probably benign |
Het |
| Stkld1 |
C |
G |
2: 26,833,922 (GRCm39) |
N136K |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,461,166 (GRCm39) |
D904G |
possibly damaging |
Het |
| Tmf1 |
G |
A |
6: 97,138,408 (GRCm39) |
R837* |
probably null |
Het |
| Tnn |
T |
C |
1: 159,948,278 (GRCm39) |
T812A |
possibly damaging |
Het |
| Trgj4 |
T |
C |
13: 19,526,365 (GRCm39) |
L15P |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,059,147 (GRCm39) |
I905V |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,786,308 (GRCm39) |
|
probably benign |
Het |
| Zfp446 |
T |
C |
7: 12,713,043 (GRCm39) |
L27P |
probably damaging |
Het |
| Zfp719 |
A |
G |
7: 43,235,809 (GRCm39) |
D57G |
possibly damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,985,766 (GRCm39) |
|
probably benign |
Het |
| Zfp978 |
G |
A |
4: 147,475,284 (GRCm39) |
R277K |
probably benign |
Het |
|
| Other mutations in Or51q1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Or51q1
|
APN |
7 |
103,628,999 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01330:Or51q1
|
APN |
7 |
103,629,349 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01433:Or51q1
|
APN |
7 |
103,628,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Or51q1
|
UTSW |
7 |
103,629,110 (GRCm39) |
frame shift |
probably null |
|
|
FR4340:Or51q1
|
UTSW |
7 |
103,629,110 (GRCm39) |
frame shift |
probably null |
|
|
FR4342:Or51q1
|
UTSW |
7 |
103,629,110 (GRCm39) |
frame shift |
probably null |
|
|
R0271:Or51q1
|
UTSW |
7 |
103,628,837 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1909:Or51q1
|
UTSW |
7 |
103,628,997 (GRCm39) |
nonsense |
probably null |
|
|
R2212:Or51q1
|
UTSW |
7 |
103,628,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2484:Or51q1
|
UTSW |
7 |
103,628,545 (GRCm39) |
missense |
probably benign |
|
|
R3412:Or51q1
|
UTSW |
7 |
103,628,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4513:Or51q1
|
UTSW |
7 |
103,628,648 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4559:Or51q1
|
UTSW |
7 |
103,628,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5032:Or51q1
|
UTSW |
7 |
103,628,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5436:Or51q1
|
UTSW |
7 |
103,628,473 (GRCm39) |
missense |
probably benign |
|
|
R5591:Or51q1
|
UTSW |
7 |
103,629,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5617:Or51q1
|
UTSW |
7 |
103,628,921 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5911:Or51q1
|
UTSW |
7 |
103,628,915 (GRCm39) |
missense |
probably benign |
|
|
R6249:Or51q1
|
UTSW |
7 |
103,628,818 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6275:Or51q1
|
UTSW |
7 |
103,629,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7589:Or51q1
|
UTSW |
7 |
103,628,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8188:Or51q1
|
UTSW |
7 |
103,628,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Or51q1
|
UTSW |
7 |
103,628,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9106:Or51q1
|
UTSW |
7 |
103,628,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9507:Or51q1
|
UTSW |
7 |
103,629,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9592:Or51q1
|
UTSW |
7 |
103,629,179 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
RF004:Or51q1
|
UTSW |
7 |
103,629,110 (GRCm39) |
frame shift |
probably null |
|
|
RF005:Or51q1
|
UTSW |
7 |
103,628,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTATCCGCACAGAGCCATC -3'
(R):5'- TATCCTGGTGGAGGCAGTAG -3'
Sequencing Primer
(F):5'- GCACAGAGCCATCTCTCC -3'
(R):5'- CTGGTGGAGGCAGTAGGAGTG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation