Incidental Mutation 'R9504:Or8b4'
| ID |
717731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b4
|
| Ensembl Gene |
ENSMUSG00000066747 |
| Gene Name |
olfactory receptor family 8 subfamily B member 4 |
| Synonyms |
MOR163-1, GA_x6K02T2PVTD-31600511-31601440, Olfr878 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R9504 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
37829844-37830908 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37830163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 70
(D70G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086061]
[ENSMUST00000212878]
[ENSMUST00000214263]
[ENSMUST00000216723]
|
| AlphaFold |
Q9EQA9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086061
AA Change: D75G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083228
Gene: ENSMUSG00000066747
AA Change: D75G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
36 |
312 |
1.4e-46 |
PFAM |
|
Pfam:7tm_1
|
46 |
294 |
5.6e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212878
AA Change: D70G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214263
AA Change: D70G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216723
AA Change: D70G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1b1 |
T |
C |
4: 45,802,905 (GRCm39) |
Y148H |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,763,235 (GRCm39) |
V498A |
probably benign |
Het |
| Atp6v0c |
A |
G |
17: 24,383,493 (GRCm39) |
V118A |
possibly damaging |
Het |
| Bcan |
G |
A |
3: 87,900,748 (GRCm39) |
P495L |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,238,708 (GRCm39) |
E303G |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,101,155 (GRCm39) |
N169S |
probably benign |
Het |
| Cldn23 |
A |
T |
8: 36,293,470 (GRCm39) |
V6E |
probably damaging |
Het |
| Dip2a |
T |
C |
10: 76,132,189 (GRCm39) |
T560A |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,036,830 (GRCm39) |
S352G |
possibly damaging |
Het |
| Far2 |
C |
A |
6: 148,059,453 (GRCm39) |
A256E |
probably damaging |
Het |
| Gga1 |
C |
T |
15: 78,767,528 (GRCm39) |
R89C |
probably damaging |
Het |
| Hbb-bh2 |
A |
G |
7: 103,489,339 (GRCm39) |
S71P |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,128,661 (GRCm39) |
V3006D |
|
Het |
| Lypd9 |
A |
G |
11: 58,337,215 (GRCm39) |
V86A |
probably benign |
Het |
| Mrm1 |
G |
A |
11: 84,710,132 (GRCm39) |
R23W |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,391,906 (GRCm39) |
I738F |
probably damaging |
Het |
| Or1p1b |
C |
T |
11: 74,131,094 (GRCm39) |
R235C |
probably benign |
Het |
| Or4c35 |
G |
T |
2: 89,808,497 (GRCm39) |
C125F |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,815,631 (GRCm39) |
W1877R |
|
Het |
| Psmd2 |
C |
T |
16: 20,478,160 (GRCm39) |
A515V |
probably benign |
Het |
| Samd9l |
A |
G |
6: 3,372,621 (GRCm39) |
Y1547H |
probably benign |
Het |
| Sgsh |
T |
C |
11: 119,237,375 (GRCm39) |
N413S |
probably benign |
Het |
| Slmap |
G |
A |
14: 26,136,133 (GRCm39) |
P819L |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,030,538 (GRCm39) |
N465D |
probably benign |
Het |
| Sult3a2 |
T |
C |
10: 33,642,436 (GRCm39) |
N289S |
probably benign |
Het |
| Tbx2 |
T |
A |
11: 85,724,038 (GRCm39) |
S36T |
possibly damaging |
Het |
| Tcstv1a |
G |
A |
13: 120,355,267 (GRCm39) |
Q122* |
probably null |
Het |
| Tnk2 |
T |
C |
16: 32,498,961 (GRCm39) |
V758A |
possibly damaging |
Het |
| Trrap |
C |
T |
5: 144,742,904 (GRCm39) |
T1425M |
probably damaging |
Het |
| Ttc9b |
A |
G |
7: 27,354,394 (GRCm39) |
K160R |
probably damaging |
Het |
| Vinac1 |
C |
T |
2: 128,881,189 (GRCm39) |
A246T |
|
Het |
| Zfp959 |
T |
A |
17: 56,204,793 (GRCm39) |
Y277N |
probably benign |
Het |
|
| Other mutations in Or8b4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Or8b4
|
APN |
9 |
37,830,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01354:Or8b4
|
APN |
9 |
37,830,840 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0399:Or8b4
|
UTSW |
9 |
37,830,849 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1537:Or8b4
|
UTSW |
9 |
37,830,570 (GRCm39) |
missense |
probably benign |
0.24 |
|
R3737:Or8b4
|
UTSW |
9 |
37,829,937 (GRCm39) |
splice site |
probably benign |
|
|
R4035:Or8b4
|
UTSW |
9 |
37,829,937 (GRCm39) |
splice site |
probably benign |
|
|
R4675:Or8b4
|
UTSW |
9 |
37,830,882 (GRCm39) |
makesense |
probably null |
|
|
R4700:Or8b4
|
UTSW |
9 |
37,830,217 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5719:Or8b4
|
UTSW |
9 |
37,830,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5824:Or8b4
|
UTSW |
9 |
37,830,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5940:Or8b4
|
UTSW |
9 |
37,830,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6116:Or8b4
|
UTSW |
9 |
37,829,955 (GRCm39) |
start codon destroyed |
probably null |
0.94 |
|
R6705:Or8b4
|
UTSW |
9 |
37,830,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7075:Or8b4
|
UTSW |
9 |
37,830,370 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7470:Or8b4
|
UTSW |
9 |
37,830,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Or8b4
|
UTSW |
9 |
37,830,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9102:Or8b4
|
UTSW |
9 |
37,829,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9204:Or8b4
|
UTSW |
9 |
37,830,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9254:Or8b4
|
UTSW |
9 |
37,830,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Or8b4
|
UTSW |
9 |
37,830,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9711:Or8b4
|
UTSW |
9 |
37,830,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAATGGCTCCAAGAAATAGCTC -3'
(R):5'- TGTGTACAGCAGAGGATTGC -3'
Sequencing Primer
(F):5'- TCCAAGAAATAGCTCCTCTGTGACTG -3'
(R):5'- TTGCAAATGGCCACATAGCG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation