Incidental Mutation 'IGL03009:Or51ab3'
| ID |
407687 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51ab3
|
| Ensembl Gene |
ENSMUSG00000078624 |
| Gene Name |
olfactory receptor family 51 subfamily AB member 3 |
| Synonyms |
Olfr613, Olfr614, MOR20-1, GA_x6K02T2PBJ9-6275524-6276477, GA_x6K02T2PBJ9-6271959-6272393, MOR20-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL03009
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103199575-103204711 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 103201734 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 247
(C247*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149332
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106888]
[ENSMUST00000214173]
[ENSMUST00000214345]
[ENSMUST00000215673]
|
| AlphaFold |
E9PYB4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000106888
AA Change: C247*
|
| SMART Domains |
Protein: ENSMUSP00000102501
Gene: ENSMUSG00000078624
AA Change: C247*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
311 |
1.1e-99 |
PFAM |
|
Pfam:7tm_1
|
42 |
293 |
5.6e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000214173
AA Change: C247*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214345
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215673
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
C |
A |
15: 80,836,444 (GRCm39) |
S67* |
probably null |
Het |
| Arrdc4 |
A |
G |
7: 68,389,241 (GRCm39) |
V411A |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,865,794 (GRCm39) |
Y794C |
probably damaging |
Het |
| Flt4 |
G |
T |
11: 49,517,951 (GRCm39) |
K330N |
probably benign |
Het |
| Foxs1 |
T |
C |
2: 152,774,849 (GRCm39) |
H68R |
probably damaging |
Het |
| Gm21969 |
C |
T |
4: 139,334,965 (GRCm39) |
S333L |
probably damaging |
Het |
| Gm7008 |
T |
A |
12: 40,273,546 (GRCm39) |
|
probably benign |
Het |
| Gmppa |
A |
G |
1: 75,416,014 (GRCm39) |
Y137C |
probably damaging |
Het |
| Grwd1 |
A |
G |
7: 45,476,561 (GRCm39) |
|
probably benign |
Het |
| Kdm5a |
C |
T |
6: 120,407,047 (GRCm39) |
R1421W |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,894,039 (GRCm39) |
T1749A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,069,468 (GRCm39) |
|
probably benign |
Het |
| Ntng1 |
T |
C |
3: 109,842,018 (GRCm39) |
K252E |
possibly damaging |
Het |
| Nup133 |
A |
G |
8: 124,660,239 (GRCm39) |
I353T |
possibly damaging |
Het |
| Osbpl11 |
T |
C |
16: 33,062,100 (GRCm39) |
|
probably benign |
Het |
| Pcsk9 |
C |
T |
4: 106,311,542 (GRCm39) |
G230S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,967,988 (GRCm39) |
N1127S |
probably damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,873,756 (GRCm39) |
K688N |
possibly damaging |
Het |
| Rhot1 |
A |
G |
11: 80,111,080 (GRCm39) |
|
probably null |
Het |
| Rims2 |
A |
T |
15: 39,430,393 (GRCm39) |
Q1159L |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 52,022,003 (GRCm39) |
I594V |
probably benign |
Het |
| Slc43a2 |
G |
A |
11: 75,463,202 (GRCm39) |
C536Y |
probably benign |
Het |
| Stip1 |
A |
T |
19: 6,998,489 (GRCm39) |
V537E |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Vav1 |
A |
T |
17: 57,603,582 (GRCm39) |
T94S |
probably benign |
Het |
| Zfr |
A |
T |
15: 12,162,321 (GRCm39) |
I824F |
probably damaging |
Het |
|
| Other mutations in Or51ab3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00937:Or51ab3
|
APN |
7 |
103,201,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0047:Or51ab3
|
UTSW |
7 |
103,201,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Or51ab3
|
UTSW |
7 |
103,201,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Or51ab3
|
UTSW |
7 |
103,201,372 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2247:Or51ab3
|
UTSW |
7 |
103,201,097 (GRCm39) |
splice site |
probably null |
|
|
R4622:Or51ab3
|
UTSW |
7 |
103,201,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4674:Or51ab3
|
UTSW |
7 |
103,201,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Or51ab3
|
UTSW |
7 |
103,201,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5101:Or51ab3
|
UTSW |
7 |
103,201,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6396:Or51ab3
|
UTSW |
7 |
103,201,888 (GRCm39) |
nonsense |
probably null |
|
|
R6860:Or51ab3
|
UTSW |
7 |
103,201,075 (GRCm39) |
missense |
probably benign |
|
|
R7310:Or51ab3
|
UTSW |
7 |
103,201,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7318:Or51ab3
|
UTSW |
7 |
103,201,298 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7593:Or51ab3
|
UTSW |
7 |
103,200,956 (GRCm39) |
unclassified |
probably benign |
|
|
R8046:Or51ab3
|
UTSW |
7 |
103,201,584 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8138:Or51ab3
|
UTSW |
7 |
103,201,266 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8243:Or51ab3
|
UTSW |
7 |
103,201,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9784:Or51ab3
|
UTSW |
7 |
103,201,266 (GRCm39) |
missense |
probably benign |
0.22 |
|
| Posted On |
2016-08-02 |
Incidental Mutation