Incidental Mutation 'R2972:Or4a69'
| ID |
255235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4a69
|
| Ensembl Gene |
ENSMUSG00000075086 |
| Gene Name |
olfactory receptor family 4 subfamily A member 69 |
| Synonyms |
MOR231-14, Olfr1241, GA_x6K02T2Q125-50926215-50925271 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R2972 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
89311658-89317470 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89313120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 120
(R120S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149914
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099778]
[ENSMUST00000214743]
[ENSMUST00000215055]
|
| AlphaFold |
Q8VF91 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099778
AA Change: R120S
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000097366
Gene: ENSMUSG00000075086
AA Change: R120S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
1.5e-46 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
8.5e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214743
AA Change: R120S
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215055
AA Change: R120S
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC048507 |
T |
C |
13: 68,011,749 (GRCm39) |
I42T |
probably benign |
Het |
| Card9 |
C |
T |
2: 26,247,222 (GRCm39) |
R309H |
probably damaging |
Het |
| Clec14a |
T |
A |
12: 58,314,360 (GRCm39) |
R421W |
probably damaging |
Het |
| Crnkl1 |
A |
G |
2: 145,774,181 (GRCm39) |
L94P |
probably benign |
Het |
| D930007J09Rik |
C |
T |
13: 32,986,742 (GRCm39) |
|
probably benign |
Het |
| Dhrs7c |
T |
A |
11: 67,706,697 (GRCm39) |
I285N |
possibly damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,671 (GRCm39) |
N752S |
probably benign |
Het |
| Klrb1-ps1 |
A |
G |
6: 129,096,719 (GRCm39) |
|
noncoding transcript |
Het |
| Nin |
G |
A |
12: 70,109,487 (GRCm39) |
R151C |
probably damaging |
Het |
| Nsun6 |
A |
C |
2: 15,042,883 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
C |
T |
1: 81,169,485 (GRCm39) |
R81* |
probably null |
Het |
| Or1n2 |
G |
A |
2: 36,797,416 (GRCm39) |
V153M |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,410,644 (GRCm39) |
M2717K |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,867,540 (GRCm39) |
K5E |
possibly damaging |
Het |
| Rnf130 |
T |
A |
11: 49,984,627 (GRCm39) |
L309* |
probably null |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rxrg |
G |
A |
1: 167,466,715 (GRCm39) |
R422H |
probably damaging |
Het |
| Serpinb9e |
T |
A |
13: 33,439,126 (GRCm39) |
V184E |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,517 (GRCm39) |
I381N |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,599,455 (GRCm39) |
P1032L |
probably benign |
Het |
| Sptlc3 |
A |
G |
2: 139,431,581 (GRCm39) |
T368A |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,133,847 (GRCm39) |
Y748H |
probably benign |
Het |
| Ugt8a |
T |
C |
3: 125,708,957 (GRCm39) |
H51R |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,678,830 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,893 (GRCm39) |
Y537H |
probably benign |
Het |
|
| Other mutations in Or4a69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01289:Or4a69
|
APN |
2 |
89,313,191 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02175:Or4a69
|
APN |
2 |
89,312,626 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02625:Or4a69
|
APN |
2 |
89,313,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Or4a69
|
UTSW |
2 |
89,313,147 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0109:Or4a69
|
UTSW |
2 |
89,313,147 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1468:Or4a69
|
UTSW |
2 |
89,312,855 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1468:Or4a69
|
UTSW |
2 |
89,312,855 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1511:Or4a69
|
UTSW |
2 |
89,312,592 (GRCm39) |
missense |
probably null |
0.01 |
|
R1527:Or4a69
|
UTSW |
2 |
89,312,876 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1528:Or4a69
|
UTSW |
2 |
89,312,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1585:Or4a69
|
UTSW |
2 |
89,313,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2483:Or4a69
|
UTSW |
2 |
89,313,471 (GRCm39) |
nonsense |
probably null |
|
|
R3692:Or4a69
|
UTSW |
2 |
89,313,240 (GRCm39) |
missense |
probably benign |
|
|
R4592:Or4a69
|
UTSW |
2 |
89,313,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Or4a69
|
UTSW |
2 |
89,312,652 (GRCm39) |
missense |
probably benign |
|
|
R7104:Or4a69
|
UTSW |
2 |
89,313,458 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7347:Or4a69
|
UTSW |
2 |
89,312,799 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9487:Or4a69
|
UTSW |
2 |
89,312,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTACATGTCACAGATAAAGTGG -3'
(R):5'- ACAGTCATAGCCAGTCCCTC -3'
Sequencing Primer
(F):5'- GTGGTCAATTACATTTGGACCAC -3'
(R):5'- AGTCATAGCCAGTCCCTCCTTAGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation