Incidental Mutation 'R7420:Or2ag1b'
| ID |
575601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2ag1b
|
| Ensembl Gene |
ENSMUSG00000064223 |
| Gene Name |
olfactory receptor family 2 subfamily AG member 1B |
| Synonyms |
MOR283-9, GA_x6K02T2PBJ9-9067220-9066273, Olfr694 |
| MMRRC Submission |
045498-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R7420 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
106287989-106288936 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106288227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 237
(A237V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052535]
[ENSMUST00000082091]
[ENSMUST00000216118]
[ENSMUST00000216895]
|
| AlphaFold |
K7N641 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052535
AA Change: A237V
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000057180
Gene: ENSMUSG00000064223
AA Change: A237V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
4.1e-43 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
9.1e-27 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082091
AA Change: A237V
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000080740
Gene: ENSMUSG00000064223
AA Change: A237V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
5.6e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
7.6e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
7.1e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216118
AA Change: A237V
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216895
AA Change: A237V
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
95% (54/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,141,303 (GRCm39) |
V6A |
probably benign |
Het |
| Adam29 |
T |
A |
8: 56,325,933 (GRCm39) |
M174L |
probably benign |
Het |
| Ano1 |
G |
A |
7: 144,209,378 (GRCm39) |
T274I |
probably benign |
Het |
| Atad5 |
A |
T |
11: 79,986,688 (GRCm39) |
T592S |
probably benign |
Het |
| Bud13 |
C |
T |
9: 46,199,113 (GRCm39) |
P158L |
probably benign |
Het |
| Card19 |
T |
C |
13: 49,361,613 (GRCm39) |
Y6C |
probably damaging |
Het |
| Cd36 |
C |
G |
5: 17,993,272 (GRCm39) |
V393L |
probably benign |
Het |
| Cd79a |
A |
T |
7: 24,596,971 (GRCm39) |
R9* |
probably null |
Het |
| Cep164 |
T |
C |
9: 45,679,840 (GRCm39) |
H1131R |
probably benign |
Het |
| Chia1 |
T |
A |
3: 106,037,980 (GRCm39) |
S321T |
probably benign |
Het |
| Chrnd |
T |
A |
1: 87,122,543 (GRCm39) |
V217E |
possibly damaging |
Het |
| Cmtm7 |
T |
C |
9: 114,592,462 (GRCm39) |
|
probably null |
Het |
| Csn1s2a |
T |
C |
5: 87,927,865 (GRCm39) |
S60P |
possibly damaging |
Het |
| Defa30 |
T |
A |
8: 21,625,471 (GRCm39) |
N78K |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,369,623 (GRCm39) |
A1618T |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 66,008,233 (GRCm39) |
|
probably null |
Het |
| Epn1 |
A |
T |
7: 5,100,687 (GRCm39) |
T546S |
possibly damaging |
Het |
| Fam135a |
A |
G |
1: 24,051,567 (GRCm39) |
S1443P |
possibly damaging |
Het |
| Fam13b |
G |
T |
18: 34,627,664 (GRCm39) |
P179Q |
probably damaging |
Het |
| Git2 |
T |
C |
5: 114,868,431 (GRCm39) |
T647A |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,763,669 (GRCm39) |
N1494S |
probably benign |
Het |
| Gm4952 |
G |
A |
19: 12,604,265 (GRCm39) |
G226R |
probably damaging |
Het |
| Gm5460 |
T |
A |
14: 33,758,714 (GRCm39) |
F156I |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,115,909 (GRCm39) |
V849D |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,292,005 (GRCm39) |
D111G |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,105,761 (GRCm39) |
D895G |
probably damaging |
Het |
| Irag1 |
A |
T |
7: 110,470,680 (GRCm39) |
Y678* |
probably null |
Het |
| Kdm5b |
T |
C |
1: 134,532,235 (GRCm39) |
V471A |
probably benign |
Het |
| Klhdc8b |
A |
G |
9: 108,326,317 (GRCm39) |
Y239H |
possibly damaging |
Het |
| Krt15 |
A |
T |
11: 100,026,386 (GRCm39) |
V100E |
possibly damaging |
Het |
| Krt82 |
T |
C |
15: 101,454,022 (GRCm39) |
T229A |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,504,451 (GRCm39) |
S2506T |
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,341,993 (GRCm39) |
L656P |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,013,773 (GRCm39) |
|
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,739 (GRCm39) |
S497P |
probably benign |
Het |
| Or8b44 |
G |
T |
9: 38,410,359 (GRCm39) |
L131F |
probably benign |
Het |
| Otud4 |
C |
A |
8: 80,390,737 (GRCm39) |
T418K |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,256 (GRCm39) |
N462D |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,630,278 (GRCm39) |
S497P |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,590,179 (GRCm39) |
V48A |
probably damaging |
Het |
| Ppp2r5d |
A |
T |
17: 46,998,507 (GRCm39) |
F121L |
probably null |
Het |
| Prxl2c |
C |
T |
13: 64,445,131 (GRCm39) |
G164D |
possibly damaging |
Het |
| Sdad1 |
G |
A |
5: 92,453,596 (GRCm39) |
A64V |
possibly damaging |
Het |
| Selenop |
G |
T |
15: 3,309,052 (GRCm39) |
A335S |
probably damaging |
Het |
| Shc3 |
T |
C |
13: 51,585,271 (GRCm39) |
N448S |
probably benign |
Het |
| Shcbp1 |
G |
A |
8: 4,798,737 (GRCm39) |
T394I |
probably benign |
Het |
| Slc39a11 |
G |
T |
11: 113,138,648 (GRCm39) |
A276E |
probably damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Speg |
T |
A |
1: 75,407,549 (GRCm39) |
S3185R |
probably damaging |
Het |
| Tmem100 |
A |
T |
11: 89,926,579 (GRCm39) |
*135Y |
probably null |
Het |
| Ube2o |
A |
T |
11: 116,430,898 (GRCm39) |
F1001I |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,527,985 (GRCm39) |
D148G |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,511,736 (GRCm39) |
T648A |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,944 (GRCm39) |
L687P |
possibly damaging |
Het |
| Zcchc14 |
ACCGCCGCCGCCGCCGCC |
ACCGCCGCCGCCGCC |
8: 122,378,530 (GRCm39) |
|
probably benign |
Het |
| Zfp800 |
A |
G |
6: 28,243,718 (GRCm39) |
S416P |
probably benign |
Het |
|
| Other mutations in Or2ag1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01546:Or2ag1b
|
APN |
7 |
106,288,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01759:Or2ag1b
|
APN |
7 |
106,288,540 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02435:Or2ag1b
|
APN |
7 |
106,288,710 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02569:Or2ag1b
|
APN |
7 |
106,288,849 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02611:Or2ag1b
|
APN |
7 |
106,287,996 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02726:Or2ag1b
|
APN |
7 |
106,288,577 (GRCm39) |
nonsense |
probably null |
|
|
IGL02944:Or2ag1b
|
APN |
7 |
106,288,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03155:Or2ag1b
|
APN |
7 |
106,288,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Or2ag1b
|
UTSW |
7 |
106,288,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0238:Or2ag1b
|
UTSW |
7 |
106,288,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0239:Or2ag1b
|
UTSW |
7 |
106,288,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0239:Or2ag1b
|
UTSW |
7 |
106,288,462 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0609:Or2ag1b
|
UTSW |
7 |
106,288,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Or2ag1b
|
UTSW |
7 |
106,288,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1562:Or2ag1b
|
UTSW |
7 |
106,288,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1641:Or2ag1b
|
UTSW |
7 |
106,288,918 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2144:Or2ag1b
|
UTSW |
7 |
106,288,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4416:Or2ag1b
|
UTSW |
7 |
106,288,218 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4444:Or2ag1b
|
UTSW |
7 |
106,288,353 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4445:Or2ag1b
|
UTSW |
7 |
106,288,353 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4567:Or2ag1b
|
UTSW |
7 |
106,288,420 (GRCm39) |
nonsense |
probably null |
|
|
R4739:Or2ag1b
|
UTSW |
7 |
106,288,351 (GRCm39) |
nonsense |
probably null |
|
|
R4778:Or2ag1b
|
UTSW |
7 |
106,288,874 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4908:Or2ag1b
|
UTSW |
7 |
106,288,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5244:Or2ag1b
|
UTSW |
7 |
106,288,396 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5944:Or2ag1b
|
UTSW |
7 |
106,288,853 (GRCm39) |
nonsense |
probably null |
|
|
R6260:Or2ag1b
|
UTSW |
7 |
106,288,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6573:Or2ag1b
|
UTSW |
7 |
106,288,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6901:Or2ag1b
|
UTSW |
7 |
106,288,396 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7230:Or2ag1b
|
UTSW |
7 |
106,288,731 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7426:Or2ag1b
|
UTSW |
7 |
106,288,417 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8400:Or2ag1b
|
UTSW |
7 |
106,288,876 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8879:Or2ag1b
|
UTSW |
7 |
106,288,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9284:Or2ag1b
|
UTSW |
7 |
106,288,416 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9304:Or2ag1b
|
UTSW |
7 |
106,288,880 (GRCm39) |
missense |
probably benign |
0.04 |
|
U24488:Or2ag1b
|
UTSW |
7 |
106,288,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCTTTTCCCCAGGACTC -3'
(R):5'- AGACACCTCTTCTGTGAGATTCC -3'
Sequencing Primer
(F):5'- AAAGCCCCAGTGACCTCCTTATTC -3'
(R):5'- GTGAGATTCCTCCCTTGCTAAAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation