Incidental Mutation 'R6002:Or5b122'
| ID |
478443 |
| 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 |
044181-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
13562670-13563617 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 13562781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074180]
[ENSMUST00000207093]
[ENSMUST00000208104]
[ENSMUST00000215567]
[ENSMUST00000216014]
[ENSMUST00000216369]
[ENSMUST00000217451]
|
| AlphaFold |
Q8VEU6 |
| Predicted Effect |
silent
Transcript: ENSMUST00000074180
|
| SMART Domains |
Protein: ENSMUSP00000073811
Gene: ENSMUSG00000096289
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208104
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208420
|
| Predicted Effect |
silent
Transcript: ENSMUST00000215567
|
| Predicted Effect |
silent
Transcript: ENSMUST00000216014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216369
|
| Predicted Effect |
silent
Transcript: ENSMUST00000217451
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.6%
- 20x: 88.5%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
A |
2: 68,492,768 (GRCm39) |
|
probably null |
Het |
| Adam28 |
A |
G |
14: 68,879,511 (GRCm39) |
L179P |
probably benign |
Het |
| Amer2 |
G |
T |
14: 60,616,231 (GRCm39) |
G142V |
possibly damaging |
Het |
| Ap2a1 |
A |
G |
7: 44,553,819 (GRCm39) |
|
probably null |
Het |
| Arhgap32 |
A |
G |
9: 32,168,275 (GRCm39) |
T753A |
probably benign |
Het |
| Capsl |
A |
G |
15: 9,461,874 (GRCm39) |
D90G |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 45,938,349 (GRCm39) |
S39T |
possibly damaging |
Het |
| Cdx2 |
T |
A |
5: 147,240,044 (GRCm39) |
T211S |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,705,515 (GRCm39) |
Y251C |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,896,774 (GRCm39) |
V368I |
probably benign |
Het |
| Coro1a |
G |
T |
7: 126,302,252 (GRCm39) |
Q32K |
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,211,914 (GRCm39) |
V694E |
possibly damaging |
Het |
| Eif3h |
A |
G |
15: 51,662,672 (GRCm39) |
Y125H |
probably benign |
Het |
| Fbxw22 |
A |
C |
9: 109,210,750 (GRCm39) |
Y420* |
probably null |
Het |
| Fgf21 |
T |
C |
7: 45,264,651 (GRCm39) |
Y27C |
probably benign |
Het |
| Gm7356 |
A |
G |
17: 14,221,001 (GRCm39) |
S343P |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,321 (GRCm39) |
D3305G |
probably damaging |
Het |
| Ift70a1 |
T |
C |
2: 75,811,121 (GRCm39) |
T321A |
possibly damaging |
Het |
| Kdm4c |
T |
A |
4: 74,323,206 (GRCm39) |
F1046Y |
possibly damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,114 (GRCm39) |
W94R |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,962,143 (GRCm39) |
M576L |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,063 (GRCm39) |
H316R |
probably benign |
Het |
| Or4d2 |
A |
T |
11: 87,784,633 (GRCm39) |
V39E |
probably damaging |
Het |
| Or5p54 |
A |
G |
7: 107,554,376 (GRCm39) |
H176R |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,215,645 (GRCm39) |
V1184D |
probably damaging |
Het |
| Pcyox1 |
T |
A |
6: 86,369,164 (GRCm39) |
M152L |
probably benign |
Het |
| Pdha2 |
A |
G |
3: 140,917,457 (GRCm39) |
V17A |
probably benign |
Het |
| Pi4k2b |
A |
T |
5: 52,914,247 (GRCm39) |
I328L |
probably benign |
Het |
| Ppp1r13l |
T |
C |
7: 19,111,895 (GRCm39) |
F814L |
probably benign |
Het |
| Prag1 |
A |
T |
8: 36,571,337 (GRCm39) |
H640L |
probably benign |
Het |
| Prl5a1 |
T |
C |
13: 28,329,465 (GRCm39) |
I48T |
probably benign |
Het |
| Rabgap1 |
A |
G |
2: 37,363,614 (GRCm39) |
T132A |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,524,203 (GRCm39) |
I146V |
probably benign |
Het |
| Slc30a9 |
A |
G |
5: 67,499,460 (GRCm39) |
Y306C |
probably damaging |
Het |
| Stat3 |
A |
G |
11: 100,794,569 (GRCm39) |
S247P |
probably benign |
Het |
| Tbc1d1 |
C |
A |
5: 64,490,776 (GRCm39) |
L747I |
probably damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,402,761 (GRCm39) |
M1K |
probably null |
Het |
| Vezt |
A |
C |
10: 93,836,336 (GRCm39) |
V104G |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,351,397 (GRCm39) |
D170G |
probably damaging |
Het |
| Zswim2 |
C |
A |
2: 83,746,032 (GRCm39) |
D469Y |
probably damaging |
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 |
|
R0892:Or5b122
|
UTSW |
19 |
13,562,881 (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 |
|
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 |
|
| Posted On |
2017-06-26 |
Incidental Mutation