Incidental Mutation 'R8494:Or4b12'
| ID |
658171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4b12
|
| Ensembl Gene |
ENSMUSG00000075062 |
| Gene Name |
olfactory receptor family 4 subfamily B member 12 |
| Synonyms |
GA_x6K02T2Q125-51620802-51619885, Olfr1271, MOR227-5 |
| MMRRC Submission |
067936-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R8494 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90095855-90096772 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90095880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 298
(M298K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097340
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099751]
[ENSMUST00000216383]
|
| AlphaFold |
Q8VG62 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099751
AA Change: M298K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097340
Gene: ENSMUSG00000075062
AA Change: M298K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
2.1e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
6.7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216383
AA Change: M298K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217396
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,327,821 (GRCm39) |
M1420L |
probably benign |
Het |
| Adamts14 |
T |
A |
10: 61,038,708 (GRCm39) |
H934L |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,240,221 (GRCm39) |
C661R |
probably damaging |
Het |
| Akap5 |
A |
G |
12: 76,376,455 (GRCm39) |
D629G |
probably benign |
Het |
| Anapc16 |
A |
T |
10: 59,832,340 (GRCm39) |
|
probably benign |
Het |
| Ankar |
T |
C |
1: 72,697,953 (GRCm39) |
I758V |
probably benign |
Het |
| Apc2 |
G |
T |
10: 80,150,313 (GRCm39) |
R1760L |
probably damaging |
Het |
| C1qb |
T |
C |
4: 136,608,115 (GRCm39) |
T83A |
probably benign |
Het |
| Canx |
T |
A |
11: 50,202,609 (GRCm39) |
|
probably null |
Het |
| Cblb |
T |
A |
16: 52,025,003 (GRCm39) |
I966K |
probably damaging |
Het |
| Crocc2 |
A |
T |
1: 93,144,788 (GRCm39) |
Q1444L |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,759,312 (GRCm39) |
P1781S |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 87,274,958 (GRCm39) |
Y166C |
probably benign |
Het |
| Dnah5 |
A |
C |
15: 28,345,977 (GRCm39) |
N2439T |
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,673,271 (GRCm39) |
Y981N |
probably benign |
Het |
| Esrp2 |
C |
T |
8: 106,861,350 (GRCm39) |
V150M |
probably damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,982,252 (GRCm39) |
F235V |
probably damaging |
Het |
| Ffar2 |
A |
T |
7: 30,519,164 (GRCm39) |
Y125* |
probably null |
Het |
| Gm1110 |
T |
A |
9: 26,792,154 (GRCm39) |
D622V |
probably benign |
Het |
| Gpcpd1 |
A |
G |
2: 132,386,355 (GRCm39) |
V341A |
probably damaging |
Het |
| Gpx3 |
G |
A |
11: 54,793,846 (GRCm39) |
V19I |
probably benign |
Het |
| Hadha |
T |
C |
5: 30,347,810 (GRCm39) |
I160M |
probably damaging |
Het |
| Igkv3-4 |
G |
T |
6: 70,649,147 (GRCm39) |
V49F |
probably damaging |
Het |
| Kcng1 |
A |
G |
2: 168,105,018 (GRCm39) |
V276A |
probably damaging |
Het |
| Kif7 |
A |
T |
7: 79,360,145 (GRCm39) |
V364D |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,902,341 (GRCm39) |
I182V |
probably benign |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,501,856 (GRCm39) |
T243M |
possibly damaging |
Het |
| Micall1 |
T |
C |
15: 79,005,080 (GRCm39) |
L184P |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,133,593 (GRCm39) |
C217S |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,377,546 (GRCm39) |
D469G |
probably damaging |
Het |
| Mst1r |
T |
G |
9: 107,791,718 (GRCm39) |
W799G |
possibly damaging |
Het |
| Mybpc1 |
C |
T |
10: 88,362,291 (GRCm39) |
V950I |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,871 (GRCm39) |
D1296G |
probably benign |
Het |
| Parg |
T |
A |
14: 31,930,978 (GRCm39) |
H199Q |
probably benign |
Het |
| Pcnx3 |
C |
A |
19: 5,725,404 (GRCm39) |
D1170Y |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 43,250,144 (GRCm39) |
V487E |
probably damaging |
Het |
| Selp |
T |
G |
1: 163,957,835 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
T |
C |
8: 106,981,982 (GRCm39) |
E626G |
probably damaging |
Het |
| Syn3 |
A |
G |
10: 86,190,265 (GRCm39) |
L188P |
probably damaging |
Het |
| Tle1 |
T |
C |
4: 72,043,241 (GRCm39) |
I543V |
possibly damaging |
Het |
| Trp53rkb |
A |
G |
2: 166,637,779 (GRCm39) |
*245W |
probably null |
Het |
| Ttc28 |
A |
G |
5: 111,383,506 (GRCm39) |
R1336G |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,422,594 (GRCm39) |
W185R |
probably damaging |
Het |
|
| Other mutations in Or4b12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02386:Or4b12
|
APN |
2 |
90,096,295 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02901:Or4b12
|
APN |
2 |
90,096,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4466001:Or4b12
|
UTSW |
2 |
90,096,639 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4468001:Or4b12
|
UTSW |
2 |
90,096,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0325:Or4b12
|
UTSW |
2 |
90,095,880 (GRCm39) |
missense |
probably null |
|
|
R1350:Or4b12
|
UTSW |
2 |
90,096,690 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1888:Or4b12
|
UTSW |
2 |
90,095,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Or4b12
|
UTSW |
2 |
90,095,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Or4b12
|
UTSW |
2 |
90,096,030 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2510:Or4b12
|
UTSW |
2 |
90,095,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4113:Or4b12
|
UTSW |
2 |
90,096,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Or4b12
|
UTSW |
2 |
90,096,046 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5580:Or4b12
|
UTSW |
2 |
90,096,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5664:Or4b12
|
UTSW |
2 |
90,095,959 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5666:Or4b12
|
UTSW |
2 |
90,096,308 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5670:Or4b12
|
UTSW |
2 |
90,096,308 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5881:Or4b12
|
UTSW |
2 |
90,096,786 (GRCm39) |
splice site |
probably null |
|
|
R6493:Or4b12
|
UTSW |
2 |
90,096,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Or4b12
|
UTSW |
2 |
90,095,959 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7719:Or4b12
|
UTSW |
2 |
90,096,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8041:Or4b12
|
UTSW |
2 |
90,096,488 (GRCm39) |
nonsense |
probably null |
|
|
R8220:Or4b12
|
UTSW |
2 |
90,096,387 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8736:Or4b12
|
UTSW |
2 |
90,095,922 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8861:Or4b12
|
UTSW |
2 |
90,096,803 (GRCm39) |
start gained |
probably benign |
|
|
R9130:Or4b12
|
UTSW |
2 |
90,096,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9514:Or4b12
|
UTSW |
2 |
90,096,709 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGACCACAGTAGAAGTTTC -3'
(R):5'- GTCATCCTAATCAGCTTGAGGAAG -3'
Sequencing Primer
(F):5'- GCAGACCACAGTAGAAGTTTCCTAAG -3'
(R):5'- AGACGGAAGGCCCTCTCTAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation