Incidental Mutation 'R0553:Or8b12b'
| ID |
45287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b12b
|
| Ensembl Gene |
ENSMUSG00000058628 |
| Gene Name |
olfactory receptor family 8 subfamily B member 12B |
| Synonyms |
GA_x6K02T2PVTD-31458511-31459443, Olfr875, MOR161-4 |
| MMRRC Submission |
038745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R0553 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
37683933-37684936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37684627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 224
(I224N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080634]
[ENSMUST00000215128]
|
| AlphaFold |
Q7TRE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080634
AA Change: I224N
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000079467
Gene: ENSMUSG00000058628
AA Change: I224N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
1.1e-48 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
1.8e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215128
AA Change: I224N
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| Meta Mutation Damage Score |
0.5839 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| 9530002B09Rik |
A |
T |
4: 122,596,128 (GRCm39) |
M120L |
unknown |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,503,985 (GRCm39) |
I389L |
possibly damaging |
Het |
| Adamts13 |
T |
A |
2: 26,881,346 (GRCm39) |
C774* |
probably null |
Het |
| Amh |
A |
G |
10: 80,642,010 (GRCm39) |
|
probably benign |
Het |
| Armh4 |
T |
C |
14: 49,920,143 (GRCm39) |
I729V |
probably damaging |
Het |
| Cd40 |
G |
A |
2: 164,912,661 (GRCm39) |
R204Q |
probably benign |
Het |
| Cfap210 |
C |
A |
2: 69,619,785 (GRCm39) |
R8L |
probably damaging |
Het |
| Clhc1 |
A |
C |
11: 29,511,366 (GRCm39) |
|
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,891 (GRCm39) |
H973L |
unknown |
Het |
| Fut2 |
T |
A |
7: 45,300,698 (GRCm39) |
I25F |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 58,005,464 (GRCm39) |
|
probably benign |
Het |
| Gmppb |
A |
T |
9: 107,926,996 (GRCm39) |
M56L |
probably benign |
Het |
| Grm3 |
C |
A |
5: 9,620,048 (GRCm39) |
A399S |
probably benign |
Het |
| H2-T5 |
G |
T |
17: 36,478,949 (GRCm39) |
P100Q |
probably damaging |
Het |
| Hey2 |
G |
A |
10: 30,716,485 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,186 (GRCm39) |
|
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,184,447 (GRCm39) |
C92F |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,282,609 (GRCm39) |
D229G |
probably damaging |
Het |
| Klf11 |
C |
G |
12: 24,705,089 (GRCm39) |
P164R |
probably benign |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Krtcap3 |
T |
C |
5: 31,409,147 (GRCm39) |
V6A |
probably benign |
Het |
| Ltbr |
A |
C |
6: 125,290,351 (GRCm39) |
|
probably null |
Het |
| Mmp17 |
T |
G |
5: 129,675,734 (GRCm39) |
S298A |
probably benign |
Het |
| Nacc2 |
T |
A |
2: 25,979,602 (GRCm39) |
E278V |
possibly damaging |
Het |
| Or5k8 |
A |
T |
16: 58,644,518 (GRCm39) |
Y185N |
probably damaging |
Het |
| Otop2 |
C |
T |
11: 115,220,288 (GRCm39) |
A376V |
probably damaging |
Het |
| Pdia2 |
T |
C |
17: 26,415,217 (GRCm39) |
E504G |
probably damaging |
Het |
| Pdzph1 |
C |
T |
17: 59,229,722 (GRCm39) |
V979M |
probably damaging |
Het |
| Pou5f1 |
A |
G |
17: 35,820,374 (GRCm39) |
K86R |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,546,488 (GRCm39) |
F269L |
probably benign |
Het |
| Rb1 |
A |
T |
14: 73,449,152 (GRCm39) |
C659* |
probably null |
Het |
| Rnf8 |
T |
C |
17: 29,840,613 (GRCm39) |
|
probably null |
Het |
| Rras |
T |
G |
7: 44,669,980 (GRCm39) |
I137M |
probably benign |
Het |
| Slc38a9 |
A |
T |
13: 112,850,732 (GRCm39) |
H372L |
probably damaging |
Het |
| Spata9 |
T |
C |
13: 76,125,898 (GRCm39) |
|
probably null |
Het |
| Tas2r115 |
T |
C |
6: 132,714,922 (GRCm39) |
T10A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,629,237 (GRCm39) |
E12621G |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,545,828 (GRCm39) |
I460F |
probably damaging |
Het |
| Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
| Zbtb24 |
C |
T |
10: 41,327,993 (GRCm39) |
A293V |
possibly damaging |
Het |
| Zpld2 |
T |
C |
4: 133,929,829 (GRCm39) |
T159A |
possibly damaging |
Het |
|
| Other mutations in Or8b12b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01909:Or8b12b
|
APN |
9 |
37,684,159 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02013:Or8b12b
|
APN |
9 |
37,684,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02162:Or8b12b
|
APN |
9 |
37,684,227 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02966:Or8b12b
|
APN |
9 |
37,684,882 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0017:Or8b12b
|
UTSW |
9 |
37,684,274 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0520:Or8b12b
|
UTSW |
9 |
37,684,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0833:Or8b12b
|
UTSW |
9 |
37,684,372 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1316:Or8b12b
|
UTSW |
9 |
37,684,039 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1547:Or8b12b
|
UTSW |
9 |
37,683,960 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1888:Or8b12b
|
UTSW |
9 |
37,684,163 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1888:Or8b12b
|
UTSW |
9 |
37,684,163 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1891:Or8b12b
|
UTSW |
9 |
37,684,163 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1894:Or8b12b
|
UTSW |
9 |
37,684,163 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3055:Or8b12b
|
UTSW |
9 |
37,684,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Or8b12b
|
UTSW |
9 |
37,684,726 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4829:Or8b12b
|
UTSW |
9 |
37,684,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4952:Or8b12b
|
UTSW |
9 |
37,684,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6111:Or8b12b
|
UTSW |
9 |
37,684,228 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6838:Or8b12b
|
UTSW |
9 |
37,684,348 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7101:Or8b12b
|
UTSW |
9 |
37,684,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7104:Or8b12b
|
UTSW |
9 |
37,684,437 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7224:Or8b12b
|
UTSW |
9 |
37,684,711 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7334:Or8b12b
|
UTSW |
9 |
37,684,293 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7582:Or8b12b
|
UTSW |
9 |
37,684,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7909:Or8b12b
|
UTSW |
9 |
37,684,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8498:Or8b12b
|
UTSW |
9 |
37,684,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9158:Or8b12b
|
UTSW |
9 |
37,684,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCTGACCTTCTGTGCTGACAACC -3'
(R):5'- TGACCAGTCACACCACTGTAGCTC -3'
Sequencing Primer
(F):5'- TGTGCTGACAACCTCATCAATC -3'
(R):5'- ACCACTGTAGCTCATGATACTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation