Incidental Mutation 'IGL01946:Or51r1'
| ID |
180955 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51r1
|
| Ensembl Gene |
ENSMUSG00000073975 |
| Gene Name |
olfactory receptor family 51 subfamily R member 1 |
| Synonyms |
GA_x6K02T2PBJ9-5297243-5298193, Olfr550, MOR16-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL01946
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102220638-102228869 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4983 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 102227734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098225]
[ENSMUST00000213540]
[ENSMUST00000216524]
|
| AlphaFold |
E9Q544 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098225
AA Change: S11P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095828
Gene: ENSMUSG00000073975
AA Change: S11P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
311 |
6.2e-102 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
156 |
1.8e-10 |
PFAM |
|
Pfam:7tm_1
|
42 |
293 |
4.6e-18 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000213540
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216524
AA Change: S11P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,547,442 (GRCm39) |
E343K |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,571,763 (GRCm39) |
I1087V |
probably benign |
Het |
| Bcam |
A |
C |
7: 19,494,042 (GRCm39) |
Y416* |
probably null |
Het |
| Bhlhe22 |
T |
A |
3: 18,109,960 (GRCm39) |
C337S |
probably damaging |
Het |
| Cerkl |
T |
C |
2: 79,223,364 (GRCm39) |
D119G |
probably benign |
Het |
| Cog6 |
T |
C |
3: 52,909,825 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
T |
C |
7: 105,408,312 (GRCm39) |
D1840G |
probably damaging |
Het |
| Dhx16 |
G |
T |
17: 36,196,396 (GRCm39) |
M521I |
probably benign |
Het |
| Dnaja2 |
A |
G |
8: 86,273,329 (GRCm39) |
I196T |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,811,369 (GRCm39) |
Y165H |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm3371 |
A |
G |
14: 44,646,178 (GRCm39) |
Y96H |
probably damaging |
Het |
| H2-T10 |
G |
A |
17: 36,431,608 (GRCm39) |
A82V |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,217,350 (GRCm39) |
T1413A |
possibly damaging |
Het |
| Krt23 |
T |
A |
11: 99,383,665 (GRCm39) |
M76L |
possibly damaging |
Het |
| Lipe |
A |
T |
7: 25,082,701 (GRCm39) |
M504K |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,759 (GRCm39) |
R560S |
probably benign |
Het |
| Lta4h |
T |
A |
10: 93,307,232 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,877,522 (GRCm39) |
T348A |
probably damaging |
Het |
| Mybpc2 |
C |
A |
7: 44,159,322 (GRCm39) |
|
probably benign |
Het |
| Or52r1b |
T |
A |
7: 102,691,357 (GRCm39) |
S219T |
probably damaging |
Het |
| Pdp2 |
G |
A |
8: 105,320,824 (GRCm39) |
M224I |
probably benign |
Het |
| Pimreg |
C |
T |
11: 71,935,804 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
A |
T |
3: 28,178,766 (GRCm39) |
S887C |
probably damaging |
Het |
| Ppp1r3g |
G |
A |
13: 36,152,978 (GRCm39) |
A133T |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,390,818 (GRCm39) |
G1323D |
probably damaging |
Het |
| Rab3ip |
A |
G |
10: 116,773,300 (GRCm39) |
|
probably null |
Het |
| Rpain |
A |
G |
11: 70,861,358 (GRCm39) |
H9R |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,110,490 (GRCm39) |
|
probably benign |
Het |
| Serpinb6d |
A |
G |
13: 33,855,369 (GRCm39) |
T348A |
probably benign |
Het |
| Smad3 |
A |
G |
9: 63,664,835 (GRCm39) |
L42P |
probably damaging |
Het |
| Smr3a |
C |
T |
5: 88,156,014 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r13 |
G |
A |
5: 109,322,085 (GRCm39) |
T204I |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,660,561 (GRCm39) |
N1272D |
probably damaging |
Het |
|
| Other mutations in Or51r1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02605:Or51r1
|
APN |
7 |
102,228,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03365:Or51r1
|
APN |
7 |
102,227,836 (GRCm39) |
missense |
probably benign |
|
|
R0180:Or51r1
|
UTSW |
7 |
102,228,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3854:Or51r1
|
UTSW |
7 |
102,228,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Or51r1
|
UTSW |
7 |
102,228,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5606:Or51r1
|
UTSW |
7 |
102,228,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Or51r1
|
UTSW |
7 |
102,228,512 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6009:Or51r1
|
UTSW |
7 |
102,227,801 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6751:Or51r1
|
UTSW |
7 |
102,227,706 (GRCm39) |
start codon destroyed |
probably null |
|
|
R7767:Or51r1
|
UTSW |
7 |
102,220,971 (GRCm39) |
start gained |
probably benign |
|
|
R8701:Or51r1
|
UTSW |
7 |
102,227,899 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9074:Or51r1
|
UTSW |
7 |
102,228,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9101:Or51r1
|
UTSW |
7 |
102,228,137 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9151:Or51r1
|
UTSW |
7 |
102,228,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Or51r1
|
UTSW |
7 |
102,227,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0067:Or51r1
|
UTSW |
7 |
102,227,707 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation