Incidental Mutation 'R4517:Olfr541'
| ID |
332952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfr541
|
| Ensembl Gene |
ENSMUSG00000057997 |
| Gene Name |
olfactory receptor 541 |
| Synonyms |
GA_x6K02T2PBJ9-42850324-42851256, MOR253-3 |
| MMRRC Submission |
041761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140697267-140705606 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140705091 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 280
(Y280C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080681]
[ENSMUST00000209857]
[ENSMUST00000210357]
|
| AlphaFold |
Q8VGM0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080681
AA Change: Y280C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079508
Gene: ENSMUSG00000057997
AA Change: Y280C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
309 |
2.2e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
180 |
5e-8 |
PFAM |
|
Pfam:7tm_1
|
43 |
292 |
1.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209857
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210357
AA Change: Y280C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
95% (39/41) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank |
A |
G |
15: 27,562,749 (GRCm38) |
H181R |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 141,067,722 (GRCm38) |
K408E |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,745,525 (GRCm38) |
D123V |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,631,592 (GRCm38) |
I340V |
probably benign |
Het |
| Echs1 |
A |
G |
7: 140,112,496 (GRCm38) |
S113P |
possibly damaging |
Het |
| Fam122c |
G |
A |
X: 53,293,499 (GRCm38) |
R94H |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,530,715 (GRCm38) |
I391V |
probably benign |
Het |
| Glb1l |
C |
T |
1: 75,208,703 (GRCm38) |
C121Y |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,243,571 (GRCm38) |
D25V |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,552,239 (GRCm38) |
N508K |
possibly damaging |
Het |
| H2-M10.3 |
C |
T |
17: 36,367,830 (GRCm38) |
|
probably null |
Het |
| Ibsp |
C |
A |
5: 104,305,997 (GRCm38) |
S67* |
probably null |
Het |
| Ifit1bl2 |
C |
T |
19: 34,629,764 (GRCm38) |
|
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,664,061 (GRCm38) |
|
probably null |
Het |
| Kcnma1 |
A |
G |
14: 23,337,029 (GRCm38) |
S982P |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,213,272 (GRCm38) |
S707G |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,705,120 (GRCm38) |
I437V |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 120,025,064 (GRCm38) |
|
probably benign |
Het |
| Mcu |
T |
C |
10: 59,467,634 (GRCm38) |
Y127C |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,476,057 (GRCm38) |
Y284C |
probably damaging |
Het |
| Nr2f2 |
T |
G |
7: 70,358,122 (GRCm38) |
N204T |
probably benign |
Het |
| Olfr8 |
T |
A |
10: 78,956,043 (GRCm38) |
Y279* |
probably null |
Het |
| Pcf11 |
T |
C |
7: 92,646,488 (GRCm38) |
Y1451C |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,225,531 (GRCm38) |
S109G |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,028,973 (GRCm38) |
S920P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,147,663 (GRCm38) |
C537R |
probably damaging |
Het |
| Tas2r135 |
A |
T |
6: 42,406,079 (GRCm38) |
H184L |
probably benign |
Het |
| Tmem38a |
C |
T |
8: 72,572,161 (GRCm38) |
P20S |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 104,149,718 (GRCm38) |
V191M |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,681,213 (GRCm38) |
Y534C |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 30,270,258 (GRCm38) |
V259A |
probably damaging |
Het |
| Whrn |
A |
G |
4: 63,461,280 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Olfr541 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Olfr541
|
APN |
7 |
140,704,437 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01872:Olfr541
|
APN |
7 |
140,704,263 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
IGL02814:Olfr541
|
APN |
7 |
140,705,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0690:Olfr541
|
UTSW |
7 |
140,704,787 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R1019:Olfr541
|
UTSW |
7 |
140,704,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1665:Olfr541
|
UTSW |
7 |
140,704,794 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1696:Olfr541
|
UTSW |
7 |
140,704,496 (GRCm38) |
nonsense |
probably null |
|
|
R4065:Olfr541
|
UTSW |
7 |
140,704,269 (GRCm38) |
missense |
probably benign |
|
|
R5549:Olfr541
|
UTSW |
7 |
140,704,799 (GRCm38) |
splice site |
probably null |
|
|
R6327:Olfr541
|
UTSW |
7 |
140,704,703 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7288:Olfr541
|
UTSW |
7 |
140,705,029 (GRCm38) |
nonsense |
probably null |
|
|
R7307:Olfr541
|
UTSW |
7 |
140,705,147 (GRCm38) |
missense |
probably benign |
0.39 |
|
R7454:Olfr541
|
UTSW |
7 |
140,704,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8725:Olfr541
|
UTSW |
7 |
140,704,694 (GRCm38) |
missense |
probably benign |
|
|
R9404:Olfr541
|
UTSW |
7 |
140,704,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATCAACTTCGTGCTAACAC -3'
(R):5'- GATGGGTACACTTTGCTCCG -3'
Sequencing Primer
(F):5'- TATGGCTACATCATTGGCAGC -3'
(R):5'- GGTACACTTTGCTCCGTGAAGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation