Incidental Mutation 'IGL02488:Or52h1'
| ID |
295515 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52h1
|
| Ensembl Gene |
ENSMUSG00000042909 |
| Gene Name |
olfactory receptor family 52 subfamily H member 1 |
| Synonyms |
Olfr648, GA_x6K02T2PBJ9-6914780-6913830, MOR31-12 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.452)
|
| Stock # |
IGL02488
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103828663-103829613 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103829478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 46
(I46F)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052659]
[ENSMUST00000216612]
|
| AlphaFold |
Q8VG19 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052659
AA Change: I46F
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000062529
Gene: ENSMUSG00000042909
AA Change: I46F
| 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 |
possibly damaging
Transcript: ENSMUST00000104877
AA Change: I46F
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100471
Gene: ENSMUSG00000042909
AA Change: I46F
| 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 |
possibly damaging
Transcript: ENSMUST00000216612
AA Change: I46F
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
C |
T |
8: 25,282,022 (GRCm39) |
D417N |
probably damaging |
Het |
| Akr1d1 |
A |
T |
6: 37,544,095 (GRCm39) |
E324D |
probably benign |
Het |
| Ankrd34a |
A |
G |
3: 96,506,229 (GRCm39) |
I478V |
probably benign |
Het |
| C8b |
A |
G |
4: 104,661,278 (GRCm39) |
H498R |
probably benign |
Het |
| Cct6a |
T |
G |
5: 129,866,885 (GRCm39) |
|
probably benign |
Het |
| Enpp7 |
C |
A |
11: 118,879,640 (GRCm39) |
T98N |
probably damaging |
Het |
| Fcna |
A |
T |
2: 25,515,223 (GRCm39) |
|
probably null |
Het |
| Gtdc1 |
A |
G |
2: 44,715,451 (GRCm39) |
Y31H |
probably benign |
Het |
| Gzme |
A |
T |
14: 56,355,849 (GRCm39) |
N154K |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,430,150 (GRCm39) |
V849A |
probably benign |
Het |
| Hps1 |
C |
T |
19: 42,746,227 (GRCm39) |
|
probably benign |
Het |
| Incenp |
A |
T |
19: 9,870,771 (GRCm39) |
I286N |
unknown |
Het |
| Matn1 |
G |
T |
4: 130,671,804 (GRCm39) |
V24F |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,335,483 (GRCm39) |
T1302A |
probably damaging |
Het |
| Megf10 |
A |
G |
18: 57,425,704 (GRCm39) |
Y1030C |
probably damaging |
Het |
| Mpdu1 |
T |
C |
11: 69,549,435 (GRCm39) |
T87A |
probably damaging |
Het |
| Or1j18 |
T |
A |
2: 36,624,362 (GRCm39) |
S10T |
probably benign |
Het |
| Pde6h |
A |
G |
6: 136,940,264 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,421,993 (GRCm39) |
I3088V |
probably benign |
Het |
| Plec |
G |
T |
15: 76,063,359 (GRCm39) |
T2259K |
possibly damaging |
Het |
| Ptch2 |
C |
T |
4: 116,967,593 (GRCm39) |
R754C |
probably damaging |
Het |
| Ptpn12 |
T |
C |
5: 21,227,060 (GRCm39) |
T81A |
possibly damaging |
Het |
| Sars2 |
C |
T |
7: 28,441,585 (GRCm39) |
R49* |
probably null |
Het |
| Scyl1 |
G |
T |
19: 5,820,341 (GRCm39) |
Y164* |
probably null |
Het |
| Smarcd1 |
T |
C |
15: 99,609,082 (GRCm39) |
C419R |
possibly damaging |
Het |
| Syne2 |
C |
A |
12: 76,012,512 (GRCm39) |
R2568S |
probably benign |
Het |
| Tap2 |
A |
G |
17: 34,433,616 (GRCm39) |
|
probably benign |
Het |
| Thrb |
T |
A |
14: 18,033,455 (GRCm38) |
I406K |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,968,163 (GRCm39) |
I410F |
probably benign |
Het |
| Tns2 |
T |
C |
15: 102,021,178 (GRCm39) |
S940P |
probably benign |
Het |
| Trav6-2 |
A |
G |
14: 52,905,243 (GRCm39) |
K88R |
probably benign |
Het |
| Ttbk2 |
T |
C |
2: 120,586,352 (GRCm39) |
M386V |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,215,675 (GRCm39) |
E224G |
probably damaging |
Het |
| Vmn1r46 |
T |
A |
6: 89,953,963 (GRCm39) |
C271S |
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,302,560 (GRCm39) |
E1808G |
possibly damaging |
Het |
| Zfp385a |
A |
G |
15: 103,228,733 (GRCm39) |
I42T |
probably damaging |
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 |
|
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 |
|
R1262:Or52h1
|
UTSW |
7 |
103,828,623 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation