Incidental Mutation 'R6472:Or2aa1'
| ID |
516388 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2aa1
|
| Ensembl Gene |
ENSMUSG00000048919 |
| Gene Name |
olfactory receptor family 2 subfamily AA member 1 |
| Synonyms |
Olfr223, GA_x6K02T000SA-78-1037, MOR256-30 |
| MMRRC Submission |
044605-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
59479954-59480913 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 59480582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 111
(T111I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149991
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061293]
[ENSMUST00000215626]
|
| AlphaFold |
Q8VF69 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061293
AA Change: T111I
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000054824
Gene: ENSMUSG00000048919
AA Change: T111I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
310 |
1.1e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
255 |
6.4e-7 |
PFAM |
|
Pfam:7tm_1
|
45 |
292 |
3.4e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215626
AA Change: T111I
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.4%
|
| Validation Efficiency |
100% (30/30) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
T |
16: 90,852,891 (GRCm39) |
S82T |
probably benign |
Het |
| Abca1 |
A |
G |
4: 53,085,991 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,596,783 (GRCm39) |
Y1238H |
probably benign |
Het |
| Ccn3 |
A |
T |
15: 54,612,668 (GRCm39) |
T226S |
possibly damaging |
Het |
| Cdadc1 |
T |
C |
14: 59,823,491 (GRCm39) |
T334A |
probably damaging |
Het |
| Csrp3 |
G |
A |
7: 48,485,356 (GRCm39) |
T47I |
possibly damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,649 (GRCm39) |
R173H |
probably damaging |
Het |
| Fads6 |
T |
C |
11: 115,176,962 (GRCm39) |
T165A |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,975 (GRCm39) |
S566P |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,180,463 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
A |
G |
13: 12,449,111 (GRCm39) |
D1897G |
probably benign |
Het |
| Il2ra |
G |
A |
2: 11,686,780 (GRCm39) |
E204K |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,541,868 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Odr4 |
C |
T |
1: 150,257,273 (GRCm39) |
D230N |
probably benign |
Het |
| Or2a20 |
A |
G |
6: 43,194,293 (GRCm39) |
I149V |
probably benign |
Het |
| Or7g22 |
T |
A |
9: 19,048,711 (GRCm39) |
C141S |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,534 (GRCm39) |
L184* |
probably null |
Het |
| Pappa2 |
T |
C |
1: 158,662,369 (GRCm39) |
D1202G |
probably damaging |
Het |
| Pcp4l1 |
A |
T |
1: 171,002,004 (GRCm39) |
I52N |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,846,067 (GRCm39) |
W665* |
probably null |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Snrpb2 |
A |
G |
2: 142,910,221 (GRCm39) |
K93R |
possibly damaging |
Het |
| Syt10 |
T |
G |
15: 89,698,761 (GRCm39) |
E194D |
probably benign |
Het |
| Tmem163 |
A |
C |
1: 127,423,471 (GRCm39) |
F264V |
probably benign |
Het |
| Trav3-1 |
G |
T |
14: 52,818,507 (GRCm39) |
E60D |
possibly damaging |
Het |
| Vmn1r237 |
G |
A |
17: 21,534,616 (GRCm39) |
S113N |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,246,610 (GRCm39) |
S651P |
possibly damaging |
Het |
| Wnt3 |
G |
A |
11: 103,699,100 (GRCm39) |
V69I |
possibly damaging |
Het |
|
| Other mutations in Or2aa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2239:Or2aa1
|
UTSW |
11 |
59,480,097 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2916:Or2aa1
|
UTSW |
11 |
59,480,265 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2917:Or2aa1
|
UTSW |
11 |
59,480,265 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2918:Or2aa1
|
UTSW |
11 |
59,480,265 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5319:Or2aa1
|
UTSW |
11 |
59,480,477 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7038:Or2aa1
|
UTSW |
11 |
59,480,408 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8554:Or2aa1
|
UTSW |
11 |
59,480,312 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9023:Or2aa1
|
UTSW |
11 |
59,480,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or2aa1
|
UTSW |
11 |
59,480,087 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCACAGAAGAAGTGGTCCAG -3'
(R):5'- TCCTCTCTTTGGTGGAGCCTAG -3'
Sequencing Primer
(F):5'- TTTTTCGCACAAAGGGTAAGG -3'
(R):5'- TAGGCTCCAAACACCCATGTACTTC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation