Incidental Mutation 'R4452:Or8d1b'
| ID |
329013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8d1b
|
| Ensembl Gene |
ENSMUSG00000058515 |
| Gene Name |
olfactory receptor family 8 subfamily D member 1B |
| Synonyms |
GA_x6K02T2PVTD-32671531-32672457, Olfr933, MOR171-22 |
| MMRRC Submission |
041713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R4452 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
38886974-38887900 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38887382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 137
(S137P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075680]
[ENSMUST00000214324]
[ENSMUST00000216238]
[ENSMUST00000216823]
|
| AlphaFold |
Q9EQA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075680
AA Change: S137P
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000075102
Gene: ENSMUSG00000058515
AA Change: S137P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.3e-50 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3.9e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214324
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216238
AA Change: S137P
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216823
|
| Meta Mutation Damage Score |
0.6023 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,297,797 (GRCm39) |
T145A |
possibly damaging |
Het |
| Adgra1 |
G |
T |
7: 139,432,437 (GRCm39) |
A92S |
probably benign |
Het |
| Aim2 |
A |
G |
1: 173,283,010 (GRCm39) |
T31A |
possibly damaging |
Het |
| Cd46 |
G |
A |
1: 194,767,668 (GRCm39) |
A131V |
possibly damaging |
Het |
| Cdc27 |
A |
T |
11: 104,408,221 (GRCm39) |
M563K |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,704,308 (GRCm39) |
N721I |
probably damaging |
Het |
| Cnn2 |
A |
G |
10: 79,827,276 (GRCm39) |
D49G |
probably benign |
Het |
| Cul1 |
T |
A |
6: 47,485,923 (GRCm39) |
Y323* |
probably null |
Het |
| D5Ertd579e |
A |
G |
5: 36,773,814 (GRCm39) |
W194R |
probably damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,917,908 (GRCm39) |
A2249T |
probably damaging |
Het |
| Dppa4 |
T |
A |
16: 48,109,699 (GRCm39) |
D106E |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,601,313 (GRCm39) |
V357A |
probably benign |
Het |
| Gm20481 |
T |
G |
17: 35,191,109 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,119,609 (GRCm39) |
N244D |
probably damaging |
Het |
| Klk1b11 |
T |
A |
7: 43,645,335 (GRCm39) |
F3I |
probably damaging |
Het |
| Mid1 |
T |
C |
X: 168,710,421 (GRCm39) |
V139A |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,393,094 (GRCm39) |
K3046E |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,562,409 (GRCm39) |
N122S |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,369 (GRCm39) |
Y52F |
probably benign |
Het |
| Or4c124 |
T |
A |
2: 89,155,597 (GRCm39) |
D309V |
possibly damaging |
Het |
| Or52ac1 |
T |
A |
7: 104,245,846 (GRCm39) |
M181L |
probably damaging |
Het |
| Or52i2 |
T |
C |
7: 102,319,256 (GRCm39) |
V43A |
probably benign |
Het |
| Or8h9 |
C |
T |
2: 86,789,043 (GRCm39) |
G253D |
probably damaging |
Het |
| P2ry10b |
C |
T |
X: 106,214,724 (GRCm39) |
T28I |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,654,990 (GRCm39) |
Y675C |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,736,045 (GRCm39) |
N462S |
probably benign |
Het |
| Ptf1a |
G |
T |
2: 19,451,092 (GRCm39) |
A141S |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,468,203 (GRCm39) |
L1028P |
probably damaging |
Het |
| Qrsl1 |
A |
G |
10: 43,758,158 (GRCm39) |
S312P |
probably damaging |
Het |
| Sars2 |
A |
G |
7: 28,449,518 (GRCm39) |
T349A |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,377,409 (GRCm39) |
F208I |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,854,972 (GRCm39) |
N153S |
possibly damaging |
Het |
| Sema4c |
A |
T |
1: 36,592,837 (GRCm39) |
V127D |
probably benign |
Het |
| Smg6 |
C |
G |
11: 74,880,967 (GRCm39) |
S931C |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,759,427 (GRCm39) |
L1119Q |
probably damaging |
Het |
| Ubtd2 |
T |
A |
11: 32,449,406 (GRCm39) |
N84K |
probably damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,151,237 (GRCm39) |
H281L |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,213,789 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or8d1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02040:Or8d1b
|
APN |
9 |
38,887,910 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03057:Or8d1b
|
APN |
9 |
38,887,514 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0225:Or8d1b
|
UTSW |
9 |
38,887,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0234:Or8d1b
|
UTSW |
9 |
38,887,547 (GRCm39) |
splice site |
probably null |
|
|
R0234:Or8d1b
|
UTSW |
9 |
38,887,547 (GRCm39) |
splice site |
probably null |
|
|
R1479:Or8d1b
|
UTSW |
9 |
38,887,058 (GRCm39) |
missense |
probably benign |
|
|
R1710:Or8d1b
|
UTSW |
9 |
38,887,202 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1717:Or8d1b
|
UTSW |
9 |
38,887,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Or8d1b
|
UTSW |
9 |
38,887,200 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2258:Or8d1b
|
UTSW |
9 |
38,887,296 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2259:Or8d1b
|
UTSW |
9 |
38,887,296 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2260:Or8d1b
|
UTSW |
9 |
38,887,296 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4155:Or8d1b
|
UTSW |
9 |
38,887,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4299:Or8d1b
|
UTSW |
9 |
38,887,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5379:Or8d1b
|
UTSW |
9 |
38,887,151 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6340:Or8d1b
|
UTSW |
9 |
38,887,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6497:Or8d1b
|
UTSW |
9 |
38,887,490 (GRCm39) |
missense |
probably benign |
|
|
R7039:Or8d1b
|
UTSW |
9 |
38,887,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Or8d1b
|
UTSW |
9 |
38,887,017 (GRCm39) |
missense |
probably benign |
|
|
R7453:Or8d1b
|
UTSW |
9 |
38,887,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7732:Or8d1b
|
UTSW |
9 |
38,887,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7762:Or8d1b
|
UTSW |
9 |
38,887,490 (GRCm39) |
missense |
probably benign |
|
|
R9018:Or8d1b
|
UTSW |
9 |
38,887,687 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9062:Or8d1b
|
UTSW |
9 |
38,887,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCATTACACCCAAAATGCTGG -3'
(R):5'- ACCAAGGTGTTGAAGCCTG -3'
Sequencing Primer
(F):5'- CCCAAAATGCTGGTGAACTTTC -3'
(R):5'- CCAAGGTGTTGAAGCCTGCAATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation