Incidental Mutation 'R8468:Or2ag2b'
| ID |
656914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2ag2b
|
| Ensembl Gene |
ENSMUSG00000036744 |
| Gene Name |
olfactory receptor family 2 subfamily AG member 2B |
| Synonyms |
4933433E02Rik, Olfr701, GA_x6K02T2PBJ9-9195805-9196755, 4932441H21Rik, MOR283-1 |
| MMRRC Submission |
067912-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R8468 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
106413336-106419916 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106418046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 252
(Y252C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151783
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075414]
[ENSMUST00000080899]
[ENSMUST00000166880]
[ENSMUST00000217739]
[ENSMUST00000219803]
|
| AlphaFold |
Q9D3U9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075414
AA Change: Y252C
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000074868
Gene: ENSMUSG00000036744
AA Change: Y252C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.9e-46 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080899
|
| SMART Domains |
Protein: ENSMUSP00000079704
Gene: ENSMUSG00000056863
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
307 |
2.7e-53 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
300 |
2.9e-8 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.5e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166880
AA Change: Y252C
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130958
Gene: ENSMUSG00000036744
AA Change: Y252C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
290 |
5.8e-31 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
1.8e-44 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217739
AA Change: Y252C
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219803
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (36/36) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,592,444 (GRCm39) |
W655R |
possibly damaging |
Het |
| Adamts3 |
C |
T |
5: 89,842,627 (GRCm39) |
A748T |
probably benign |
Het |
| Ano1 |
A |
C |
7: 144,209,357 (GRCm39) |
F248C |
probably damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,241,891 (GRCm39) |
L628Q |
probably damaging |
Het |
| BC035947 |
C |
A |
1: 78,474,967 (GRCm39) |
A522S |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,076 (GRCm39) |
V1103A |
probably benign |
Het |
| Cd248 |
T |
A |
19: 5,119,910 (GRCm39) |
I586N |
possibly damaging |
Het |
| Dnah9 |
C |
A |
11: 65,722,556 (GRCm39) |
M4428I |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,290,275 (GRCm39) |
|
probably null |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,770,923 (GRCm39) |
L93Q |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,453 (GRCm39) |
D5G |
possibly damaging |
Het |
| Gphn |
T |
C |
12: 78,273,601 (GRCm39) |
V17A |
probably benign |
Het |
| Gpr85 |
A |
T |
6: 13,836,295 (GRCm39) |
L203H |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,599,198 (GRCm39) |
Y166C |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,313,560 (GRCm39) |
V356A |
probably damaging |
Het |
| Krt33b |
G |
A |
11: 99,920,615 (GRCm39) |
R13C |
probably damaging |
Het |
| Lgals3 |
A |
G |
14: 47,619,104 (GRCm39) |
I146V |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Miip |
G |
T |
4: 147,945,928 (GRCm39) |
D325E |
probably damaging |
Het |
| Naaladl1 |
T |
A |
19: 6,158,615 (GRCm39) |
V249E |
probably damaging |
Het |
| Nfxl1 |
C |
T |
5: 72,675,548 (GRCm39) |
R811K |
possibly damaging |
Het |
| Or12e10 |
T |
C |
2: 87,641,082 (GRCm39) |
I306T |
possibly damaging |
Het |
| Or52e7 |
A |
T |
7: 104,684,953 (GRCm39) |
I183F |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,770,685 (GRCm39) |
D7G |
probably benign |
Het |
| Or5ak24 |
T |
A |
2: 85,260,522 (GRCm39) |
Y217F |
probably damaging |
Het |
| Or6c69c |
C |
T |
10: 129,910,303 (GRCm39) |
T8I |
probably benign |
Het |
| Pkd2l2 |
A |
G |
18: 34,560,464 (GRCm39) |
D357G |
possibly damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,482,979 (GRCm39) |
Y189C |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,703,987 (GRCm39) |
E2011G |
probably damaging |
Het |
| Sestd1 |
T |
A |
2: 77,022,090 (GRCm39) |
T534S |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,495,941 (GRCm39) |
A75T |
probably benign |
Het |
| Smarcc2 |
G |
A |
10: 128,320,262 (GRCm39) |
R882H |
probably benign |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Speg |
C |
T |
1: 75,407,953 (GRCm39) |
A3216V |
probably damaging |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,370 (GRCm39) |
T112A |
probably benign |
Het |
| Zfp937 |
T |
G |
2: 150,080,634 (GRCm39) |
D221E |
probably benign |
Het |
|
| Other mutations in Or2ag2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01476:Or2ag2b
|
APN |
7 |
106,417,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01972:Or2ag2b
|
APN |
7 |
106,417,739 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02541:Or2ag2b
|
APN |
7 |
106,417,809 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0276:Or2ag2b
|
UTSW |
7 |
106,417,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0345:Or2ag2b
|
UTSW |
7 |
106,417,908 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0467:Or2ag2b
|
UTSW |
7 |
106,417,568 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1829:Or2ag2b
|
UTSW |
7 |
106,418,214 (GRCm39) |
missense |
probably benign |
|
|
R3116:Or2ag2b
|
UTSW |
7 |
106,417,571 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3870:Or2ag2b
|
UTSW |
7 |
106,418,047 (GRCm39) |
nonsense |
probably null |
|
|
R5267:Or2ag2b
|
UTSW |
7 |
106,418,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Or2ag2b
|
UTSW |
7 |
106,417,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6036:Or2ag2b
|
UTSW |
7 |
106,417,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7229:Or2ag2b
|
UTSW |
7 |
106,418,202 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7230:Or2ag2b
|
UTSW |
7 |
106,417,386 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7231:Or2ag2b
|
UTSW |
7 |
106,417,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Or2ag2b
|
UTSW |
7 |
106,417,551 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7537:Or2ag2b
|
UTSW |
7 |
106,417,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9246:Or2ag2b
|
UTSW |
7 |
106,417,938 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9300:Or2ag2b
|
UTSW |
7 |
106,418,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAAATTGGCTTGTGCAGAC -3'
(R):5'- CATCCTAAACAGTGGCGTGTG -3'
Sequencing Primer
(F):5'- GACACATCTCAATATGAGCTCATGG -3'
(R):5'- GTGCTGGCAGAATATGTCTCCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation