Incidental Mutation 'R0919:Or5m3'
| ID |
81571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5m3
|
| Ensembl Gene |
ENSMUSG00000042796 |
| Gene Name |
olfactory receptor family 5 subfamily M member 3 |
| Synonyms |
Olfr1032, MOR199-1, GA_x6K02T2Q125-47485813-47486745 |
| MMRRC Submission |
039069-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R0919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
85838122-85839054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85838984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 288
(Y288C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107216
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062166]
[ENSMUST00000079298]
[ENSMUST00000111589]
|
| AlphaFold |
A2ATE5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000062166
AA Change: Y288C
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000054494
Gene: ENSMUSG00000042796
AA Change: Y288C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
5.6e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079298
AA Change: Y288C
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078279
Gene: ENSMUSG00000042796
AA Change: Y288C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
1.3e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
9.9e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111589
AA Change: Y288C
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107216
Gene: ENSMUSG00000042796
AA Change: Y288C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
2.4e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
3.5e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
96% (43/45) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
C |
A |
18: 65,440,544 (GRCm39) |
C283F |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,459,651 (GRCm39) |
R1803G |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,012,979 (GRCm39) |
V423A |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,465,483 (GRCm39) |
I2120T |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,968,143 (GRCm39) |
H1109Q |
probably benign |
Het |
| Cfap418 |
A |
G |
4: 10,882,462 (GRCm39) |
T124A |
probably benign |
Het |
| Cfap70 |
G |
A |
14: 20,454,232 (GRCm39) |
P851S |
probably benign |
Het |
| Clcf1 |
T |
A |
19: 4,272,252 (GRCm39) |
L103Q |
probably damaging |
Het |
| Col11a2 |
T |
A |
17: 34,278,124 (GRCm39) |
V1032E |
possibly damaging |
Het |
| Cyp2c38 |
T |
G |
19: 39,393,113 (GRCm39) |
D318A |
probably benign |
Het |
| Dbpht2 |
A |
G |
12: 74,345,774 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx34 |
A |
C |
7: 15,935,883 (GRCm39) |
V893G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,815,828 (GRCm39) |
C3854S |
possibly damaging |
Het |
| Htr1a |
T |
C |
13: 105,581,344 (GRCm39) |
Y195H |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,208,769 (GRCm39) |
S1231P |
probably damaging |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Kpna4 |
A |
T |
3: 68,993,161 (GRCm39) |
|
probably benign |
Het |
| Or52d13 |
A |
G |
7: 103,110,019 (GRCm39) |
I132T |
probably damaging |
Het |
| Or52e8 |
A |
T |
7: 104,624,519 (GRCm39) |
Y228* |
probably null |
Het |
| Osbpl7 |
G |
A |
11: 96,946,927 (GRCm39) |
R239H |
possibly damaging |
Het |
| Prkce |
G |
A |
17: 86,937,588 (GRCm39) |
V674I |
probably benign |
Het |
| Prkrip1 |
T |
C |
5: 136,226,685 (GRCm39) |
M52V |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,605,843 (GRCm39) |
M849T |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,247,395 (GRCm39) |
L906S |
probably damaging |
Het |
| Sfmbt2 |
T |
C |
2: 10,582,382 (GRCm39) |
L676P |
probably benign |
Het |
| Sgsm1 |
C |
T |
5: 113,406,708 (GRCm39) |
V923I |
probably damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,533,158 (GRCm39) |
L305Q |
probably damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,949,223 (GRCm39) |
Y232C |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,979,259 (GRCm39) |
|
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,095 (GRCm39) |
I414V |
probably damaging |
Het |
| Tbc1d12 |
C |
T |
19: 38,902,493 (GRCm39) |
H551Y |
possibly damaging |
Het |
| Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
| Trpc7 |
C |
T |
13: 56,970,462 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
G |
A |
2: 126,673,158 (GRCm39) |
R532C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,777,086 (GRCm39) |
K1485* |
probably null |
Het |
| Txn2 |
T |
C |
15: 77,811,949 (GRCm39) |
D69G |
probably damaging |
Het |
| U2af2 |
C |
T |
7: 5,072,433 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,882,255 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,200,603 (GRCm39) |
|
probably benign |
Het |
| Usp49 |
T |
A |
17: 47,983,376 (GRCm39) |
V127D |
probably benign |
Het |
| Washc2 |
C |
T |
6: 116,185,225 (GRCm39) |
R20W |
probably damaging |
Het |
| Zscan10 |
T |
C |
17: 23,828,981 (GRCm39) |
S476P |
probably damaging |
Het |
|
| Other mutations in Or5m3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01069:Or5m3
|
APN |
2 |
85,838,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03110:Or5m3
|
APN |
2 |
85,838,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03167:Or5m3
|
APN |
2 |
85,838,511 (GRCm39) |
nonsense |
probably null |
|
|
R0206:Or5m3
|
UTSW |
2 |
85,838,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Or5m3
|
UTSW |
2 |
85,838,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Or5m3
|
UTSW |
2 |
85,838,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2019:Or5m3
|
UTSW |
2 |
85,838,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Or5m3
|
UTSW |
2 |
85,838,357 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3843:Or5m3
|
UTSW |
2 |
85,838,548 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4295:Or5m3
|
UTSW |
2 |
85,838,614 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5813:Or5m3
|
UTSW |
2 |
85,838,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6283:Or5m3
|
UTSW |
2 |
85,838,443 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7031:Or5m3
|
UTSW |
2 |
85,838,939 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7427:Or5m3
|
UTSW |
2 |
85,838,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7428:Or5m3
|
UTSW |
2 |
85,838,563 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7856:Or5m3
|
UTSW |
2 |
85,838,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8048:Or5m3
|
UTSW |
2 |
85,838,524 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8504:Or5m3
|
UTSW |
2 |
85,838,149 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9129:Or5m3
|
UTSW |
2 |
85,838,356 (GRCm39) |
missense |
|
|
|
R9150:Or5m3
|
UTSW |
2 |
85,838,626 (GRCm39) |
nonsense |
probably null |
|
|
R9180:Or5m3
|
UTSW |
2 |
85,838,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGCGCAAGGCATTTTCCA -3'
(R):5'- CCCCAGCCTCCAAGAGTCTATTTCTTA -3'
Sequencing Primer
(F):5'- GCAAGGCATTTTCCACCTGTG -3'
(R):5'- AGTACAACACAGAACTTTCTTGC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation