Incidental Mutation 'R3023:Or4a78'
| ID |
265744 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4a78
|
| Ensembl Gene |
ENSMUSG00000111567 |
| Gene Name |
olfactory receptor family 4 subfamily A member 78 |
| Synonyms |
Olfr1251, GA_x6K02T2Q125-51109312-51108356, MOR231-15P, MOR231-24_p |
| MMRRC Submission |
040539-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
R3023 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
89497272-89498228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89497990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 80
(I80T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214304]
[ENSMUST00000214639]
[ENSMUST00000214750]
|
| AlphaFold |
Q7TQZ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099767
AA Change: I80T
PolyPhen 2
Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097355
Gene: ENSMUSG00000075077
AA Change: I80T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
1.1e-45 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
2.3e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000188085
AA Change: I80T
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140591
Gene: ENSMUSG00000100323
AA Change: I80T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
285 |
1.4e-29 |
PFAM |
|
Pfam:7tm_4
|
137 |
278 |
2e-38 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214304
AA Change: I80T
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214639
AA Change: I80T
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214750
AA Change: I80T
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,646,531 (GRCm39) |
E1060D |
probably benign |
Het |
| Abca15 |
A |
T |
7: 119,982,002 (GRCm39) |
I1106F |
probably benign |
Het |
| Arl5a |
A |
G |
2: 52,306,209 (GRCm39) |
V41A |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,311,957 (GRCm39) |
D190G |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,842,593 (GRCm39) |
|
probably null |
Het |
| Ckap2 |
T |
C |
8: 22,665,877 (GRCm39) |
N390S |
possibly damaging |
Het |
| Dtx3l |
A |
G |
16: 35,752,806 (GRCm39) |
I600T |
probably benign |
Het |
| Epb41l1 |
A |
C |
2: 156,356,129 (GRCm39) |
E555A |
probably damaging |
Het |
| Fxr1 |
G |
A |
3: 34,118,373 (GRCm39) |
R503H |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,833,147 (GRCm39) |
N436D |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,692,433 (GRCm39) |
C11Y |
probably damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,417,077 (GRCm39) |
I703F |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,587,351 (GRCm39) |
Y37C |
probably damaging |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Pwwp2b |
G |
A |
7: 138,836,110 (GRCm39) |
R517H |
probably damaging |
Het |
| Rp1 |
G |
A |
1: 4,422,898 (GRCm39) |
R61W |
probably damaging |
Het |
| Sdk1 |
C |
G |
5: 142,031,991 (GRCm39) |
T1022S |
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,948,541 (GRCm39) |
S669T |
probably benign |
Het |
| Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
| Tlr2 |
C |
T |
3: 83,745,178 (GRCm39) |
V302I |
probably benign |
Het |
| Trav7-6 |
A |
G |
14: 53,954,701 (GRCm39) |
K77R |
probably benign |
Het |
| Vmn2r18 |
T |
C |
5: 151,485,148 (GRCm39) |
N782S |
probably benign |
Het |
| Vmn2r78 |
G |
T |
7: 86,604,174 (GRCm39) |
S784I |
probably damaging |
Het |
|
| Other mutations in Or4a78 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01817:Or4a78
|
APN |
2 |
89,497,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01941:Or4a78
|
APN |
2 |
89,497,812 (GRCm39) |
nonsense |
probably null |
0.00 |
|
IGL01988:Or4a78
|
APN |
2 |
89,497,424 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02388:Or4a78
|
APN |
2 |
89,497,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03169:Or4a78
|
APN |
2 |
89,497,831 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0008:Or4a78
|
UTSW |
2 |
89,497,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Or4a78
|
UTSW |
2 |
89,497,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0834:Or4a78
|
UTSW |
2 |
89,497,423 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1102:Or4a78
|
UTSW |
2 |
89,497,814 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2213:Or4a78
|
UTSW |
2 |
89,497,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2219:Or4a78
|
UTSW |
2 |
89,498,211 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3105:Or4a78
|
UTSW |
2 |
89,497,302 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3433:Or4a78
|
UTSW |
2 |
89,497,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3508:Or4a78
|
UTSW |
2 |
89,497,816 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3758:Or4a78
|
UTSW |
2 |
89,497,916 (GRCm39) |
missense |
probably benign |
0.14 |
|
R3909:Or4a78
|
UTSW |
2 |
89,497,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4049:Or4a78
|
UTSW |
2 |
89,498,006 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4457:Or4a78
|
UTSW |
2 |
89,497,427 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5613:Or4a78
|
UTSW |
2 |
89,497,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5748:Or4a78
|
UTSW |
2 |
89,498,146 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6226:Or4a78
|
UTSW |
2 |
89,497,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6950:Or4a78
|
UTSW |
2 |
89,497,895 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9129:Or4a78
|
UTSW |
2 |
89,497,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9792:Or4a78
|
UTSW |
2 |
89,497,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9793:Or4a78
|
UTSW |
2 |
89,497,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9795:Or4a78
|
UTSW |
2 |
89,497,811 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGATACATACCCTTCGATTCATG -3'
(R):5'- CAGAATTTGTCCTGCTGGGC -3'
Sequencing Primer
(F):5'- CATGATGATCAAATAATGCAGTGGC -3'
(R):5'- TCCTGCTGGGCAAAAAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation