Incidental Mutation 'IGL01518:Or4x6'
| ID |
89363 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4x6
|
| Ensembl Gene |
ENSMUSG00000084336 |
| Gene Name |
olfactory receptor family 4 subfamily X member 6 |
| Synonyms |
GA_x6K02T2Q125-51551618-51550689, Olfr1269, MOR228-3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
IGL01518
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
89949011-89949940 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89949315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 209
(F209S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099756]
[ENSMUST00000117787]
[ENSMUST00000214404]
[ENSMUST00000216493]
|
| AlphaFold |
Q8VEZ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099756
AA Change: F209S
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097345
Gene: ENSMUSG00000084336
AA Change: F209S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
3.8e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
300 |
1.2e-5 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
5.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117787
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214404
AA Change: F209S
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216493
AA Change: F209S
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447F04Rik |
A |
C |
X: 65,347,660 (GRCm39) |
V16G |
unknown |
Het |
| 4933427I04Rik |
A |
T |
4: 123,754,494 (GRCm39) |
E136V |
probably benign |
Het |
| Aadac |
A |
G |
3: 59,943,320 (GRCm39) |
D75G |
probably damaging |
Het |
| Arfgap1 |
T |
A |
2: 180,614,518 (GRCm39) |
S125T |
probably benign |
Het |
| Atxn2 |
G |
T |
5: 121,949,042 (GRCm39) |
A813S |
probably damaging |
Het |
| Cadps |
C |
A |
14: 12,522,352 (GRCm38) |
S604I |
probably damaging |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,433,480 (GRCm39) |
M1488L |
unknown |
Het |
| Fndc3c1 |
T |
C |
X: 105,475,029 (GRCm39) |
N941S |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,244,305 (GRCm39) |
Y1172C |
possibly damaging |
Het |
| Gm1527 |
T |
C |
3: 28,949,737 (GRCm39) |
|
probably benign |
Het |
| Hsf2 |
T |
C |
10: 57,388,230 (GRCm39) |
L458P |
probably damaging |
Het |
| Il2 |
T |
C |
3: 37,177,156 (GRCm39) |
T127A |
possibly damaging |
Het |
| Inpp5e |
A |
G |
2: 26,287,946 (GRCm39) |
Y617H |
probably damaging |
Het |
| Isoc2b |
G |
A |
7: 4,853,763 (GRCm39) |
S137F |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,464,490 (GRCm39) |
P241S |
probably damaging |
Het |
| Mfsd6 |
C |
A |
1: 52,748,481 (GRCm39) |
R128L |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,088,462 (GRCm39) |
T153A |
probably damaging |
Het |
| Or8d1 |
A |
T |
9: 38,767,095 (GRCm39) |
M246L |
probably benign |
Het |
| Pi4ka |
T |
C |
16: 17,098,599 (GRCm39) |
N2022S |
probably benign |
Het |
| Scrt2 |
C |
A |
2: 151,935,560 (GRCm39) |
R238S |
probably damaging |
Het |
| St3gal6 |
T |
A |
16: 58,305,138 (GRCm39) |
D108V |
probably benign |
Het |
| Tmem132b |
C |
T |
5: 125,855,855 (GRCm39) |
T529M |
probably damaging |
Het |
| Trappc11 |
T |
C |
8: 47,954,904 (GRCm39) |
|
probably null |
Het |
| Tspyl1 |
T |
A |
10: 34,159,195 (GRCm39) |
S307T |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,131,982 (GRCm39) |
S735G |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,221,668 (GRCm39) |
M1186V |
possibly damaging |
Het |
|
| Other mutations in Or4x6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01389:Or4x6
|
APN |
2 |
89,949,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01889:Or4x6
|
APN |
2 |
89,949,309 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02629:Or4x6
|
APN |
2 |
89,949,201 (GRCm39) |
nonsense |
probably null |
|
|
R0732:Or4x6
|
UTSW |
2 |
89,949,666 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1446:Or4x6
|
UTSW |
2 |
89,949,202 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1938:Or4x6
|
UTSW |
2 |
89,949,427 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4526:Or4x6
|
UTSW |
2 |
89,949,016 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4786:Or4x6
|
UTSW |
2 |
89,949,351 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4792:Or4x6
|
UTSW |
2 |
89,949,174 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4925:Or4x6
|
UTSW |
2 |
89,949,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5152:Or4x6
|
UTSW |
2 |
89,949,465 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5296:Or4x6
|
UTSW |
2 |
89,949,043 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5450:Or4x6
|
UTSW |
2 |
89,949,013 (GRCm39) |
makesense |
probably null |
|
|
R5536:Or4x6
|
UTSW |
2 |
89,949,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7572:Or4x6
|
UTSW |
2 |
89,949,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7695:Or4x6
|
UTSW |
2 |
89,949,207 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7879:Or4x6
|
UTSW |
2 |
89,949,185 (GRCm39) |
nonsense |
probably null |
|
|
R7938:Or4x6
|
UTSW |
2 |
89,949,173 (GRCm39) |
nonsense |
probably null |
|
|
R8280:Or4x6
|
UTSW |
2 |
89,949,742 (GRCm39) |
missense |
probably benign |
0.27 |
|
| Posted On |
2013-12-03 |
Incidental Mutation