Incidental Mutation 'R3696:Or1af1'
| ID |
269803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1af1
|
| Ensembl Gene |
ENSMUSG00000068947 |
| Gene Name |
olfactory receptor family 1 subfamily AF member 1 |
| Synonyms |
Olfr366, MOR138-5P, MOR138-6, GA_x6K02T2NLDC-33902472-33903401 |
| MMRRC Submission |
040690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R3696 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
37109503-37110432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37110188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 229
(P229L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150608
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091001]
[ENSMUST00000214897]
|
| AlphaFold |
Q7TRY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091001
AA Change: P229L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088524
Gene: ENSMUSG00000068947
AA Change: P229L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
5e-62 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3.7e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214897
AA Change: P229L
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.5617 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| Aldh4a1 |
A |
G |
4: 139,369,562 (GRCm39) |
H371R |
possibly damaging |
Het |
| Anapc4 |
A |
G |
5: 53,019,351 (GRCm39) |
S562G |
probably null |
Het |
| Arfgef2 |
T |
A |
2: 166,695,220 (GRCm39) |
L531* |
probably null |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,033,552 (GRCm39) |
M1010V |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,527,724 (GRCm39) |
E126G |
probably damaging |
Het |
| Ckap5 |
C |
A |
2: 91,450,511 (GRCm39) |
T2014K |
probably benign |
Het |
| Dlat |
C |
T |
9: 50,562,176 (GRCm39) |
V283I |
possibly damaging |
Het |
| Emc1 |
T |
G |
4: 139,092,697 (GRCm39) |
S546A |
possibly damaging |
Het |
| Ephx1 |
G |
A |
1: 180,817,516 (GRCm39) |
S385L |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,273,638 (GRCm39) |
S408P |
probably benign |
Het |
| Etl4 |
G |
A |
2: 20,806,473 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
C |
8: 111,329,911 (GRCm39) |
S4882P |
probably damaging |
Het |
| Il12a |
TCAC |
TC |
3: 68,605,320 (GRCm39) |
|
probably null |
Het |
| Il6st |
T |
G |
13: 112,640,916 (GRCm39) |
D897E |
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Itgb8 |
A |
G |
12: 119,140,746 (GRCm39) |
V377A |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,572,532 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
T |
G |
4: 123,350,155 (GRCm39) |
T2027P |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,235,870 (GRCm39) |
I678L |
possibly damaging |
Het |
| Nfu1 |
A |
G |
6: 86,992,634 (GRCm39) |
T83A |
probably damaging |
Het |
| Nid1 |
G |
A |
13: 13,661,344 (GRCm39) |
C748Y |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,360 (GRCm39) |
T103A |
probably benign |
Het |
| Prm3 |
T |
C |
16: 10,608,672 (GRCm39) |
M28V |
possibly damaging |
Het |
| Rgs22 |
C |
T |
15: 36,100,038 (GRCm39) |
V226I |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
A |
T |
11: 87,476,060 (GRCm39) |
T212S |
possibly damaging |
Het |
| Trdn |
T |
A |
10: 33,181,028 (GRCm39) |
|
probably null |
Het |
| Trim2 |
T |
A |
3: 84,098,158 (GRCm39) |
Y390F |
probably benign |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,523 (GRCm39) |
I232F |
possibly damaging |
Het |
| Zfp30 |
A |
T |
7: 29,492,815 (GRCm39) |
K356N |
probably damaging |
Het |
|
| Other mutations in Or1af1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01691:Or1af1
|
APN |
2 |
37,110,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01925:Or1af1
|
APN |
2 |
37,110,058 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02355:Or1af1
|
APN |
2 |
37,109,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Or1af1
|
APN |
2 |
37,109,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02671:Or1af1
|
APN |
2 |
37,110,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02821:Or1af1
|
APN |
2 |
37,110,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0603:Or1af1
|
UTSW |
2 |
37,110,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0707:Or1af1
|
UTSW |
2 |
37,110,208 (GRCm39) |
nonsense |
probably null |
|
|
R1204:Or1af1
|
UTSW |
2 |
37,109,651 (GRCm39) |
missense |
probably benign |
|
|
R1457:Or1af1
|
UTSW |
2 |
37,109,671 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1509:Or1af1
|
UTSW |
2 |
37,109,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Or1af1
|
UTSW |
2 |
37,109,653 (GRCm39) |
nonsense |
probably null |
|
|
R1823:Or1af1
|
UTSW |
2 |
37,110,344 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2163:Or1af1
|
UTSW |
2 |
37,110,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2909:Or1af1
|
UTSW |
2 |
37,110,188 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3698:Or1af1
|
UTSW |
2 |
37,110,188 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4004:Or1af1
|
UTSW |
2 |
37,109,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4655:Or1af1
|
UTSW |
2 |
37,109,885 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5311:Or1af1
|
UTSW |
2 |
37,109,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5385:Or1af1
|
UTSW |
2 |
37,109,599 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5433:Or1af1
|
UTSW |
2 |
37,109,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5499:Or1af1
|
UTSW |
2 |
37,109,777 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5707:Or1af1
|
UTSW |
2 |
37,109,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6330:Or1af1
|
UTSW |
2 |
37,110,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6338:Or1af1
|
UTSW |
2 |
37,109,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6666:Or1af1
|
UTSW |
2 |
37,110,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6872:Or1af1
|
UTSW |
2 |
37,109,989 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7412:Or1af1
|
UTSW |
2 |
37,109,774 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7789:Or1af1
|
UTSW |
2 |
37,109,672 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7831:Or1af1
|
UTSW |
2 |
37,109,723 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8220:Or1af1
|
UTSW |
2 |
37,109,791 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8391:Or1af1
|
UTSW |
2 |
37,110,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Or1af1
|
UTSW |
2 |
37,109,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9049:Or1af1
|
UTSW |
2 |
37,109,959 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9231:Or1af1
|
UTSW |
2 |
37,109,989 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9294:Or1af1
|
UTSW |
2 |
37,110,122 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9471:Or1af1
|
UTSW |
2 |
37,110,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9595:Or1af1
|
UTSW |
2 |
37,110,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAATTCTCATGGGTCGCC -3'
(R):5'- GTTCCTAAGGCTGTAGATGAAAGG -3'
Sequencing Primer
(F):5'- TGTGGACCCAATGTCATTCATCAC -3'
(R):5'- GGATTCAGCATTGGGGTAACTAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation