Incidental Mutation 'R0311:Or8b48'
| ID |
25207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b48
|
| Ensembl Gene |
ENSMUSG00000111448 |
| Gene Name |
olfactory receptor family 8 subfamily B member 48 |
| Synonyms |
MOR165-4, GA_x6K02T2PVTD-32283590-32284522, Olfr912 |
| MMRRC Submission |
038521-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.258)
|
| Stock # |
R0311 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
38491540-38493507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38450593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 134
(V134A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000215122]
|
| AlphaFold |
A0A1L1SSS5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073214
AA Change: V134A
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072947
Gene: ENSMUSG00000057444
AA Change: V134A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.9e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
4.2e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215122
AA Change: V134A
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.6%
- 20x: 91.6%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
C |
7: 120,002,127 (GRCm39) |
M1547L |
probably damaging |
Het |
| Abcb4 |
A |
G |
5: 8,984,243 (GRCm39) |
K658E |
probably benign |
Het |
| Abr |
A |
G |
11: 76,399,953 (GRCm39) |
S15P |
possibly damaging |
Het |
| Adgrb2 |
G |
C |
4: 129,910,922 (GRCm39) |
A1168P |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,109,010 (GRCm39) |
E339V |
probably benign |
Het |
| Asprv1 |
T |
C |
6: 86,605,822 (GRCm39) |
W223R |
probably damaging |
Het |
| Ccdc89 |
A |
G |
7: 90,075,901 (GRCm39) |
E37G |
probably damaging |
Het |
| Cd48 |
C |
A |
1: 171,527,148 (GRCm39) |
Y191* |
probably null |
Het |
| Chd4 |
T |
C |
6: 125,078,628 (GRCm39) |
I257T |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,257 (GRCm39) |
M2V |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 118,090,868 (GRCm39) |
D1025E |
probably benign |
Het |
| Erich5 |
A |
G |
15: 34,473,085 (GRCm39) |
*363W |
probably null |
Het |
| Etl4 |
A |
G |
2: 20,811,940 (GRCm39) |
D1341G |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,672,083 (GRCm39) |
T184A |
probably benign |
Het |
| Fktn |
A |
G |
4: 53,744,620 (GRCm39) |
Q300R |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gdpd3 |
G |
A |
7: 126,366,361 (GRCm39) |
R66Q |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,320,327 (GRCm39) |
|
probably benign |
Het |
| Kdm4b |
A |
G |
17: 56,693,200 (GRCm39) |
R346G |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,812,183 (GRCm39) |
|
probably null |
Het |
| Med23 |
T |
A |
10: 24,773,256 (GRCm39) |
C653S |
possibly damaging |
Het |
| Nwd2 |
A |
T |
5: 63,962,341 (GRCm39) |
I642L |
probably damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,460 (GRCm39) |
Y71F |
possibly damaging |
Het |
| Or5b21 |
A |
G |
19: 12,839,233 (GRCm39) |
I31M |
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,890,286 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
| Plpp2 |
C |
T |
10: 79,363,414 (GRCm39) |
R77K |
probably damaging |
Het |
| Pym1 |
G |
T |
10: 128,601,853 (GRCm39) |
R168L |
possibly damaging |
Het |
| Rbm4 |
T |
C |
19: 4,837,584 (GRCm39) |
Y300C |
probably damaging |
Het |
| Rnf207 |
A |
G |
4: 152,400,236 (GRCm39) |
C175R |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,298,943 (GRCm39) |
I1048L |
possibly damaging |
Het |
| Th |
T |
C |
7: 142,449,778 (GRCm39) |
E41G |
probably damaging |
Het |
| Tmx4 |
T |
A |
2: 134,440,446 (GRCm39) |
*336L |
probably null |
Het |
| Tnfrsf18 |
T |
C |
4: 156,110,872 (GRCm39) |
V10A |
possibly damaging |
Het |
| Tnxb |
A |
T |
17: 34,935,958 (GRCm39) |
I2670F |
probably damaging |
Het |
| Tpx2 |
T |
C |
2: 152,732,412 (GRCm39) |
V562A |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,127,846 (GRCm39) |
Y890H |
probably benign |
Het |
| Ythdc1 |
G |
A |
5: 86,983,564 (GRCm39) |
D670N |
probably damaging |
Het |
|
| Other mutations in Or8b48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Or8b48
|
APN |
9 |
38,492,672 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01099:Or8b48
|
APN |
9 |
38,493,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01749:Or8b48
|
APN |
9 |
38,492,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01750:Or8b48
|
APN |
9 |
38,492,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01751:Or8b48
|
APN |
9 |
38,492,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01752:Or8b48
|
APN |
9 |
38,492,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01753:Or8b48
|
APN |
9 |
38,492,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02262:Or8b48
|
APN |
9 |
38,492,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02264:Or8b48
|
APN |
9 |
38,492,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02298:Or8b48
|
APN |
9 |
38,492,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02305:Or8b48
|
APN |
9 |
38,492,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02309:Or8b48
|
APN |
9 |
38,492,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02309:Or8b48
|
APN |
9 |
38,492,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02317:Or8b48
|
APN |
9 |
38,492,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02401:Or8b48
|
APN |
9 |
38,492,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Or8b48
|
UTSW |
9 |
38,492,579 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1552:Or8b48
|
UTSW |
9 |
38,492,675 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1720:Or8b48
|
UTSW |
9 |
38,492,585 (GRCm39) |
missense |
probably benign |
|
|
R2149:Or8b48
|
UTSW |
9 |
38,492,804 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2241:Or8b48
|
UTSW |
9 |
38,493,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3622:Or8b48
|
UTSW |
9 |
38,492,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Or8b48
|
UTSW |
9 |
38,493,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4686:Or8b48
|
UTSW |
9 |
38,493,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4780:Or8b48
|
UTSW |
9 |
38,493,265 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5221:Or8b48
|
UTSW |
9 |
38,493,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5503:Or8b48
|
UTSW |
9 |
38,493,368 (GRCm39) |
missense |
probably benign |
|
|
R5887:Or8b48
|
UTSW |
9 |
38,493,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6062:Or8b48
|
UTSW |
9 |
38,450,440 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6516:Or8b48
|
UTSW |
9 |
38,492,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6542:Or8b48
|
UTSW |
9 |
38,450,733 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6766:Or8b48
|
UTSW |
9 |
38,493,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7057:Or8b48
|
UTSW |
9 |
38,493,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7112:Or8b48
|
UTSW |
9 |
38,493,330 (GRCm39) |
nonsense |
probably null |
|
|
R7414:Or8b48
|
UTSW |
9 |
38,492,764 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7514:Or8b48
|
UTSW |
9 |
38,493,347 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7915:Or8b48
|
UTSW |
9 |
38,492,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Or8b48
|
UTSW |
9 |
38,493,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9290:Or8b48
|
UTSW |
9 |
38,493,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9626:Or8b48
|
UTSW |
9 |
38,492,977 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Or8b48
|
UTSW |
9 |
38,493,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTATCAGGCATTCCCACCACAGG -3'
(R):5'- AGCTGCATCAAAGGCAGAAGATCAC -3'
Sequencing Primer
(F):5'- AACTGCCTTTGGGAATTTGACC -3'
(R):5'- CACAGAAGTAGTGATTGATGGTGTTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation