Incidental Mutation 'R0892:Or5b122'
| ID |
83552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b122
|
| Ensembl Gene |
ENSMUSG00000096289 |
| Gene Name |
olfactory receptor family 5 subfamily B member 122 |
| Synonyms |
Olfr1484, MOR202-37, GA_x6K02T2RE5P-3917859-3918806 |
| MMRRC Submission |
039055-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R0892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
13562670-13563617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13562881 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 28
(V28D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074180]
[ENSMUST00000207093]
[ENSMUST00000208104]
[ENSMUST00000215567]
[ENSMUST00000216014]
[ENSMUST00000216369]
[ENSMUST00000217451]
|
| AlphaFold |
Q8VEU6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074180
AA Change: V71D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073811
Gene: ENSMUSG00000096289
AA Change: V71D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
7.4e-55 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
304 |
1.1e-5 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
3.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207093
AA Change: V71D
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208104
AA Change: V28D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208420
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215567
AA Change: V71D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216014
AA Change: V71D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216369
AA Change: V28D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217451
AA Change: V71D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.4%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,248,305 (GRCm39) |
V2684E |
probably benign |
Het |
| Ankub1 |
T |
C |
3: 57,597,800 (GRCm39) |
R57G |
probably benign |
Het |
| Bcr |
C |
T |
10: 74,960,895 (GRCm39) |
A442V |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,764,920 (GRCm39) |
T226A |
possibly damaging |
Het |
| Dmkn |
C |
T |
7: 30,466,829 (GRCm39) |
R114C |
probably damaging |
Het |
| Ell2 |
A |
T |
13: 75,911,758 (GRCm39) |
N348I |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,011,843 (GRCm39) |
I830N |
possibly damaging |
Het |
| Gm15737 |
C |
T |
6: 92,856,721 (GRCm39) |
|
probably benign |
Het |
| Gpa33 |
A |
G |
1: 165,985,211 (GRCm39) |
N182S |
probably damaging |
Het |
| Gpr37 |
A |
T |
6: 25,688,206 (GRCm39) |
I297N |
probably damaging |
Het |
| Hpse2 |
T |
C |
19: 43,376,585 (GRCm39) |
K56E |
probably benign |
Het |
| Lamc1 |
G |
A |
1: 153,208,000 (GRCm39) |
H96Y |
possibly damaging |
Het |
| Mapre2 |
A |
G |
18: 23,991,200 (GRCm39) |
N189S |
probably benign |
Het |
| Msmo1 |
T |
A |
8: 65,175,587 (GRCm39) |
I148F |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,184,511 (GRCm39) |
T1607A |
probably benign |
Het |
| Oog2 |
A |
T |
4: 143,923,069 (GRCm39) |
T445S |
probably benign |
Het |
| Plag1 |
G |
A |
4: 3,904,532 (GRCm39) |
Q220* |
probably null |
Het |
| Pom121l2 |
A |
G |
13: 22,166,644 (GRCm39) |
E305G |
possibly damaging |
Het |
| Prorp |
A |
G |
12: 55,429,033 (GRCm39) |
|
probably null |
Het |
| Sbsn |
A |
T |
7: 30,454,244 (GRCm39) |
Q50L |
possibly damaging |
Het |
| Slc25a42 |
A |
G |
8: 70,644,597 (GRCm39) |
L34P |
probably damaging |
Het |
| Sptbn1 |
C |
A |
11: 30,092,201 (GRCm39) |
R521S |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,011,724 (GRCm39) |
V394E |
probably benign |
Het |
| Tatdn3 |
T |
C |
1: 190,795,002 (GRCm39) |
D18G |
probably benign |
Het |
| Trappc8 |
A |
G |
18: 20,964,665 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or5b122 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02029:Or5b122
|
APN |
19 |
13,563,468 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02104:Or5b122
|
APN |
19 |
13,562,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02502:Or5b122
|
APN |
19 |
13,563,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03339:Or5b122
|
APN |
19 |
13,563,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03391:Or5b122
|
APN |
19 |
13,563,483 (GRCm39) |
missense |
probably benign |
|
|
R0008:Or5b122
|
UTSW |
19 |
13,563,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0607:Or5b122
|
UTSW |
19 |
13,563,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Or5b122
|
UTSW |
19 |
13,563,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1605:Or5b122
|
UTSW |
19 |
13,562,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1619:Or5b122
|
UTSW |
19 |
13,562,978 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1793:Or5b122
|
UTSW |
19 |
13,562,779 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2073:Or5b122
|
UTSW |
19 |
13,562,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2348:Or5b122
|
UTSW |
19 |
13,563,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5025:Or5b122
|
UTSW |
19 |
13,562,886 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5383:Or5b122
|
UTSW |
19 |
13,563,439 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5771:Or5b122
|
UTSW |
19 |
13,562,872 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6002:Or5b122
|
UTSW |
19 |
13,562,781 (GRCm39) |
start gained |
probably benign |
|
|
R6992:Or5b122
|
UTSW |
19 |
13,562,811 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7404:Or5b122
|
UTSW |
19 |
13,562,752 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8358:Or5b122
|
UTSW |
19 |
13,562,764 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8939:Or5b122
|
UTSW |
19 |
13,562,860 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF002:Or5b122
|
UTSW |
19 |
13,563,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Or5b122
|
UTSW |
19 |
13,563,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Or5b122
|
UTSW |
19 |
13,563,572 (GRCm39) |
missense |
probably null |
0.00 |
|
X0040:Or5b122
|
UTSW |
19 |
13,563,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0040:Or5b122
|
UTSW |
19 |
13,563,572 (GRCm39) |
missense |
probably null |
0.00 |
|
X0067:Or5b122
|
UTSW |
19 |
13,563,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTTAACAGATGCACCATTCCTG -3'
(R):5'- TCTCAGCAGAGCGCATTCTCAC -3'
Sequencing Primer
(F):5'- GATGCACCATTCCTGCAAACTC -3'
(R):5'- GAGCGCATTCTCACAATTGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation