Incidental Mutation 'R6543:Or6c3b'
| ID |
520958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c3b
|
| Ensembl Gene |
ENSMUSG00000046041 |
| Gene Name |
olfactory receptor family 6 subfamily C member 3B |
| Synonyms |
GA_x6K02T2PULF-11370664-11369738, MOR111-3, Olfr803 |
| MMRRC Submission |
044669-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R6543 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
129526982-129527908 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 129527859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 17
(G17V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056736]
[ENSMUST00000203785]
[ENSMUST00000204641]
[ENSMUST00000217576]
|
| AlphaFold |
Q8VFI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056736
AA Change: G17V
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000055860
Gene: ENSMUSG00000046041
AA Change: G17V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
306 |
6.2e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
303 |
3.8e-6 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
3.2e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203785
|
| SMART Domains |
Protein: ENSMUSP00000144741
Gene: ENSMUSG00000093866
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
305 |
6.8e-56 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
2.5e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204641
AA Change: G17V
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000145400
Gene: ENSMUSG00000046041
AA Change: G17V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
307 |
2.9e-49 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
8.3e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217576
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (41/41) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
C |
2: 126,908,525 (GRCm39) |
V1091A |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,640,715 (GRCm39) |
N1320D |
probably benign |
Het |
| Atl3 |
T |
A |
19: 7,487,463 (GRCm39) |
F126Y |
probably damaging |
Het |
| Borcs5 |
C |
T |
6: 134,687,143 (GRCm39) |
T167M |
probably damaging |
Het |
| Cplane2 |
T |
G |
4: 140,944,599 (GRCm39) |
V50G |
probably benign |
Het |
| Creld2 |
A |
G |
15: 88,709,481 (GRCm39) |
T331A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,911,497 (GRCm39) |
V494A |
probably damaging |
Het |
| Dclk1 |
C |
T |
3: 55,407,552 (GRCm39) |
P244S |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,220,825 (GRCm39) |
N126S |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,197,493 (GRCm39) |
S629P |
unknown |
Het |
| Grip1 |
T |
C |
10: 119,821,499 (GRCm39) |
L389P |
probably benign |
Het |
| Igkv4-91 |
A |
T |
6: 68,745,582 (GRCm39) |
D105E |
probably damaging |
Het |
| Il20ra |
G |
A |
10: 19,625,071 (GRCm39) |
A117T |
probably damaging |
Het |
| Il6ra |
A |
G |
3: 89,784,170 (GRCm39) |
V367A |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,306,455 (GRCm39) |
V47M |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,300,682 (GRCm39) |
Y220C |
probably damaging |
Het |
| Lims1 |
T |
A |
10: 58,248,273 (GRCm39) |
C243* |
probably null |
Het |
| Man1a |
C |
A |
10: 53,811,077 (GRCm39) |
G435* |
probably null |
Het |
| Msantd5f4 |
A |
G |
4: 73,557,215 (GRCm39) |
E16G |
probably damaging |
Het |
| Mtor |
T |
A |
4: 148,630,053 (GRCm39) |
I2250N |
probably damaging |
Het |
| N4bp1 |
G |
A |
8: 87,588,534 (GRCm39) |
Q135* |
probably null |
Het |
| Nbeal2 |
A |
T |
9: 110,473,526 (GRCm39) |
D76E |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,986,605 (GRCm39) |
S669P |
probably benign |
Het |
| Nfrkb |
C |
T |
9: 31,312,281 (GRCm39) |
Q456* |
probably null |
Het |
| Pcnx3 |
C |
T |
19: 5,715,275 (GRCm39) |
A1557T |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Prokr2 |
T |
A |
2: 132,215,819 (GRCm39) |
Q53L |
probably benign |
Het |
| Pxmp4 |
C |
A |
2: 154,429,979 (GRCm39) |
A137S |
possibly damaging |
Het |
| Rasef |
C |
T |
4: 73,698,756 (GRCm39) |
|
probably benign |
Het |
| Scpppq1 |
T |
C |
5: 104,222,741 (GRCm39) |
|
probably benign |
Het |
| Scrt2 |
C |
T |
2: 151,935,063 (GRCm39) |
A72V |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,177,101 (GRCm39) |
E1171G |
possibly damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,857,375 (GRCm39) |
T923A |
possibly damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,078,872 (GRCm39) |
K141R |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,849,492 (GRCm39) |
|
probably null |
Het |
| Sympk |
A |
T |
7: 18,770,755 (GRCm39) |
H282L |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,751,677 (GRCm39) |
Y1324C |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,577,600 (GRCm39) |
N170S |
possibly damaging |
Het |
| Trav6-3 |
T |
C |
14: 53,666,219 (GRCm39) |
M1T |
probably null |
Het |
| Trim66 |
A |
G |
7: 109,075,086 (GRCm39) |
S392P |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,599,155 (GRCm39) |
T10958A |
probably damaging |
Het |
| Ubr7 |
A |
G |
12: 102,734,494 (GRCm39) |
K256R |
probably benign |
Het |
|
| Other mutations in Or6c3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Or6c3b
|
APN |
10 |
129,527,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01298:Or6c3b
|
APN |
10 |
129,527,898 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02008:Or6c3b
|
APN |
10 |
129,527,887 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02166:Or6c3b
|
APN |
10 |
129,527,782 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02598:Or6c3b
|
APN |
10 |
129,527,142 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03158:Or6c3b
|
APN |
10 |
129,527,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03393:Or6c3b
|
APN |
10 |
129,527,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2246:Or6c3b
|
UTSW |
10 |
129,527,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3749:Or6c3b
|
UTSW |
10 |
129,527,830 (GRCm39) |
missense |
probably benign |
|
|
R5060:Or6c3b
|
UTSW |
10 |
129,527,699 (GRCm39) |
missense |
probably benign |
|
|
R5116:Or6c3b
|
UTSW |
10 |
129,527,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5253:Or6c3b
|
UTSW |
10 |
129,527,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6166:Or6c3b
|
UTSW |
10 |
129,527,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:Or6c3b
|
UTSW |
10 |
129,527,391 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6828:Or6c3b
|
UTSW |
10 |
129,527,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7284:Or6c3b
|
UTSW |
10 |
129,527,220 (GRCm39) |
missense |
probably benign |
|
|
R7510:Or6c3b
|
UTSW |
10 |
129,527,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8488:Or6c3b
|
UTSW |
10 |
129,527,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8887:Or6c3b
|
UTSW |
10 |
129,527,372 (GRCm39) |
nonsense |
probably null |
|
|
R9257:Or6c3b
|
UTSW |
10 |
129,527,003 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9323:Or6c3b
|
UTSW |
10 |
129,527,829 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTAATTATTGATGCCAGGAATCTG -3'
(R):5'- ACATGCAGCAAGTCTTACAAGG -3'
Sequencing Primer
(F):5'- CAGGAATCTGGGAATGGAAACACTAG -3'
(R):5'- TCTTACAAGGAAGGGAAGTCATTGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation