Incidental Mutation 'R1262:Or52h1'
| ID |
262744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52h1
|
| Ensembl Gene |
ENSMUSG00000042909 |
| Gene Name |
olfactory receptor family 52 subfamily H member 1 |
| Synonyms |
Olfr648, GA_x6K02T2PBJ9-6914780-6913830, MOR31-12 |
| MMRRC Submission |
039329-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.440)
|
| Stock # |
R1262 (G1)
|
| Quality Score |
141 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103828663-103829613 bp(-) (GRCm39) |
| Type of Mutation |
splice site (40 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 103828623 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052659]
[ENSMUST00000216612]
|
| AlphaFold |
Q8VG19 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052659
|
| SMART Domains |
Protein: ENSMUSP00000062529
Gene: ENSMUSG00000042909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
2e-111 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
309 |
7.7e-7 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
3.1e-17 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000104877
|
| SMART Domains |
Protein: ENSMUSP00000100471
Gene: ENSMUSG00000042909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
37 |
309 |
1.1e-8 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
3.6e-28 |
PFAM |
|
Pfam:7tm_4
|
141 |
287 |
1.9e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216612
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,912,470 (GRCm39) |
V114A |
probably benign |
Het |
| BC048679 |
A |
G |
7: 81,145,089 (GRCm39) |
F85L |
probably benign |
Het |
| Btbd7 |
A |
G |
12: 102,754,210 (GRCm39) |
I852T |
probably benign |
Het |
| Cenpk |
T |
A |
13: 104,367,293 (GRCm39) |
V43E |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cyp2b10 |
C |
T |
7: 25,614,836 (GRCm39) |
T281M |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,069,998 (GRCm39) |
D6G |
possibly damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Nipsnap3b |
G |
T |
4: 53,015,166 (GRCm39) |
G71V |
probably damaging |
Het |
| Or51b6b |
G |
A |
7: 103,309,648 (GRCm39) |
P270S |
probably benign |
Het |
| Snx25 |
T |
A |
8: 46,558,328 (GRCm39) |
R80S |
probably damaging |
Het |
| Syt6 |
A |
T |
3: 103,492,656 (GRCm39) |
|
probably null |
Het |
| Tas1r2 |
G |
A |
4: 139,382,599 (GRCm39) |
R79Q |
probably damaging |
Het |
| Ttc7 |
C |
T |
17: 87,648,364 (GRCm39) |
T521I |
probably benign |
Het |
|
| Other mutations in Or52h1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02121:Or52h1
|
APN |
7 |
103,829,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02488:Or52h1
|
APN |
7 |
103,829,478 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02956:Or52h1
|
APN |
7 |
103,829,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:Or52h1
|
UTSW |
7 |
103,828,680 (GRCm39) |
nonsense |
probably null |
|
|
R0057:Or52h1
|
UTSW |
7 |
103,829,536 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1054:Or52h1
|
UTSW |
7 |
103,829,498 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4589:Or52h1
|
UTSW |
7 |
103,828,636 (GRCm39) |
splice site |
probably null |
|
|
R4975:Or52h1
|
UTSW |
7 |
103,828,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Or52h1
|
UTSW |
7 |
103,829,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Or52h1
|
UTSW |
7 |
103,829,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6195:Or52h1
|
UTSW |
7 |
103,828,961 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6211:Or52h1
|
UTSW |
7 |
103,828,954 (GRCm39) |
nonsense |
probably null |
|
|
R6233:Or52h1
|
UTSW |
7 |
103,828,961 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6259:Or52h1
|
UTSW |
7 |
103,829,261 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7138:Or52h1
|
UTSW |
7 |
103,829,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7357:Or52h1
|
UTSW |
7 |
103,828,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Or52h1
|
UTSW |
7 |
103,828,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8352:Or52h1
|
UTSW |
7 |
103,829,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8452:Or52h1
|
UTSW |
7 |
103,829,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Or52h1
|
UTSW |
7 |
103,829,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8937:Or52h1
|
UTSW |
7 |
103,828,949 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
X0018:Or52h1
|
UTSW |
7 |
103,828,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
|
| Posted On |
2015-02-04 |
Incidental Mutation