Incidental Mutation 'R5336:Or1a1'
| ID |
423532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1a1
|
| Ensembl Gene |
ENSMUSG00000070378 |
| Gene Name |
olfactory receptor family 1 subfamily A member 1 |
| Synonyms |
GA_x6K02T2P1NL-4348188-4349129, MOR125-5_p, Olfr403, IA7 |
| MMRRC Submission |
042844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5336 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
74086331-74087272 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74086859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 177
(F177L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076675]
[ENSMUST00000206114]
|
| AlphaFold |
Q7TRX2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076675
AA Change: F177L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075971
Gene: ENSMUSG00000070378
AA Change: F177L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
7.3e-59 |
PFAM |
|
Pfam:7tm_1
|
41 |
238 |
7.2e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206114
AA Change: F177L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206247
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,100,495 (GRCm39) |
E289D |
probably damaging |
Het |
| Acyp1 |
A |
T |
12: 85,326,785 (GRCm39) |
F80I |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,945,400 (GRCm39) |
N226S |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,779,769 (GRCm39) |
S1704T |
probably damaging |
Het |
| Btnl5-ps |
T |
C |
17: 34,711,371 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1h |
T |
C |
17: 25,611,205 (GRCm39) |
H531R |
probably damaging |
Het |
| Chpf |
C |
A |
1: 75,452,351 (GRCm39) |
A368S |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,639,595 (GRCm39) |
V575A |
possibly damaging |
Het |
| Col5a3 |
A |
T |
9: 20,710,597 (GRCm39) |
F551I |
unknown |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,618,002 (GRCm39) |
|
probably null |
Het |
| Ddost |
T |
C |
4: 138,036,741 (GRCm39) |
Y147H |
possibly damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,181,472 (GRCm39) |
F92L |
probably benign |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T23 |
T |
A |
17: 36,342,550 (GRCm39) |
N196I |
possibly damaging |
Het |
| Ighv9-2 |
A |
C |
12: 114,072,905 (GRCm39) |
F23V |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,553 (GRCm39) |
E2040G |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,150,017 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
C |
7: 5,331,118 (GRCm39) |
D426G |
probably benign |
Het |
| Otof |
T |
C |
5: 30,534,064 (GRCm39) |
D1415G |
probably benign |
Het |
| Ppig |
T |
C |
2: 69,580,568 (GRCm39) |
S701P |
unknown |
Het |
| Ptprf |
A |
G |
4: 118,092,831 (GRCm39) |
I528T |
probably damaging |
Het |
| Scara3 |
A |
G |
14: 66,168,487 (GRCm39) |
Y377H |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,254,129 (GRCm39) |
*176R |
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Tarm1 |
T |
C |
7: 3,546,084 (GRCm39) |
Y61C |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,432,103 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
A |
T |
5: 65,083,145 (GRCm39) |
N477K |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,019,664 (GRCm39) |
T518M |
probably damaging |
Het |
| Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,258,574 (GRCm39) |
I494V |
possibly damaging |
Het |
| Wdr17 |
T |
A |
8: 55,085,353 (GRCm39) |
I1257F |
probably damaging |
Het |
| Zfp874a |
T |
C |
13: 67,590,799 (GRCm39) |
H295R |
probably damaging |
Het |
|
| Other mutations in Or1a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01589:Or1a1
|
APN |
11 |
74,086,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01716:Or1a1
|
APN |
11 |
74,087,207 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0598:Or1a1
|
UTSW |
11 |
74,086,658 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1168:Or1a1
|
UTSW |
11 |
74,087,247 (GRCm39) |
missense |
probably benign |
|
|
R1440:Or1a1
|
UTSW |
11 |
74,086,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1657:Or1a1
|
UTSW |
11 |
74,086,722 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1834:Or1a1
|
UTSW |
11 |
74,086,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1990:Or1a1
|
UTSW |
11 |
74,086,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1991:Or1a1
|
UTSW |
11 |
74,086,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2206:Or1a1
|
UTSW |
11 |
74,087,150 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2207:Or1a1
|
UTSW |
11 |
74,087,150 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3103:Or1a1
|
UTSW |
11 |
74,086,901 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4662:Or1a1
|
UTSW |
11 |
74,086,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Or1a1
|
UTSW |
11 |
74,086,902 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5918:Or1a1
|
UTSW |
11 |
74,086,944 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6858:Or1a1
|
UTSW |
11 |
74,086,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7175:Or1a1
|
UTSW |
11 |
74,087,004 (GRCm39) |
nonsense |
probably null |
|
|
R7362:Or1a1
|
UTSW |
11 |
74,086,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7670:Or1a1
|
UTSW |
11 |
74,087,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Or1a1
|
UTSW |
11 |
74,086,415 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8957:Or1a1
|
UTSW |
11 |
74,086,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9029:Or1a1
|
UTSW |
11 |
74,086,563 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCATATGACCGAGCTGTG -3'
(R):5'- GCCCATGACTGTCCCATAATAC -3'
Sequencing Primer
(F):5'- TGTGGCTATCAGTCGCCC -3'
(R):5'- ACAGGTGGACAAGGCCTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation