Incidental Mutation 'IGL03393:Or6c3b'
| ID |
421127 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6c3b
|
| Ensembl Gene |
ENSMUSG00000046041 |
| Gene Name |
olfactory receptor family 6 subfamily C member 3B |
| Synonyms |
GA_x6K02T2PULF-11370664-11369738, MOR111-3, Olfr803 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL03393
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
129526982-129527908 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129527147 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 254
(I254M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056736]
[ENSMUST00000203785]
[ENSMUST00000204641]
[ENSMUST00000217576]
|
| AlphaFold |
Q8VFI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056736
AA Change: I254M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000055860
Gene: ENSMUSG00000046041
AA Change: I254M
| 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 damaging
Transcript: ENSMUST00000204641
AA Change: I254M
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145400
Gene: ENSMUSG00000046041
AA Change: I254M
| 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
|
| Coding Region Coverage |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
G |
10: 86,909,902 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
G |
T |
16: 85,665,083 (GRCm39) |
S627Y |
probably damaging |
Het |
| Allc |
G |
A |
12: 28,610,010 (GRCm39) |
R196C |
probably damaging |
Het |
| Ccdc65 |
A |
C |
15: 98,618,568 (GRCm39) |
E241A |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,317,741 (GRCm39) |
|
probably benign |
Het |
| Fzd4 |
T |
C |
7: 89,056,505 (GRCm39) |
V184A |
probably benign |
Het |
| Gfap |
T |
A |
11: 102,784,083 (GRCm39) |
|
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,511,366 (GRCm39) |
V211A |
probably benign |
Het |
| Gprc6a |
A |
G |
10: 51,491,355 (GRCm39) |
I623T |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,696,665 (GRCm39) |
T687A |
probably benign |
Het |
| Kcnc4 |
T |
G |
3: 107,355,243 (GRCm39) |
M402L |
possibly damaging |
Het |
| Ktn1 |
T |
C |
14: 47,928,391 (GRCm39) |
L584S |
probably damaging |
Het |
| Mrgprb2 |
C |
T |
7: 48,202,650 (GRCm39) |
S25N |
probably benign |
Het |
| Muc5b |
T |
A |
7: 141,417,875 (GRCm39) |
V3607E |
probably benign |
Het |
| Or4c58 |
C |
A |
2: 89,674,913 (GRCm39) |
V135L |
probably benign |
Het |
| Otx2 |
A |
G |
14: 48,898,781 (GRCm39) |
I75T |
probably damaging |
Het |
| Pabpc4l |
T |
C |
3: 46,400,972 (GRCm39) |
D224G |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,710,648 (GRCm39) |
C1525S |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,865,156 (GRCm39) |
L669F |
probably damaging |
Het |
| Prss40 |
A |
C |
1: 34,597,182 (GRCm39) |
V122G |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,326,009 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
T |
19: 41,860,232 (GRCm39) |
M997K |
possibly damaging |
Het |
| Sbno2 |
G |
A |
10: 79,902,735 (GRCm39) |
R414W |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,148,362 (GRCm39) |
D41G |
probably benign |
Het |
| Serpinb1c |
A |
T |
13: 33,066,044 (GRCm39) |
D300E |
probably damaging |
Het |
| Timeless |
G |
A |
10: 128,087,924 (GRCm39) |
D1165N |
probably damaging |
Het |
| Tnpo1 |
T |
G |
13: 99,024,981 (GRCm39) |
K66N |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,963,912 (GRCm39) |
N629K |
possibly damaging |
Het |
| Ubr4 |
T |
A |
4: 139,179,989 (GRCm39) |
L255M |
probably damaging |
Het |
| Vmn1r10 |
T |
A |
6: 57,091,042 (GRCm39) |
Y211* |
probably null |
Het |
| Vmn2r76 |
T |
G |
7: 85,879,034 (GRCm39) |
N422T |
probably benign |
Het |
| Xylt1 |
C |
A |
7: 117,192,940 (GRCm39) |
N415K |
probably damaging |
Het |
| Zfp786 |
A |
T |
6: 47,798,458 (GRCm39) |
V160E |
possibly damaging |
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 |
|
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 |
|
R6543:Or6c3b
|
UTSW |
10 |
129,527,859 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation