Incidental Mutation 'R4521:Or6c69b'
| ID |
334232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c69b
|
| Ensembl Gene |
ENSMUSG00000069421 |
| Gene Name |
olfactory receptor family 6 subfamily C member 69B |
| Synonyms |
GA_x6K02T2PULF-11470271-11469333, Olfr810, MOR113-4 |
| MMRRC Submission |
041764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R4521 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
129626518-129627456 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129627050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 136
(N136I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150364
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091986]
[ENSMUST00000214206]
[ENSMUST00000214878]
[ENSMUST00000217283]
|
| AlphaFold |
Q8VFH9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091986
AA Change: N136I
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000089612
Gene: ENSMUSG00000069421
AA Change: N136I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
7.3e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
5e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214206
AA Change: N136I
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214878
AA Change: N136I
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217283
AA Change: N136I
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Bora |
G |
T |
14: 99,305,984 (GRCm39) |
S451I |
probably damaging |
Het |
| Cadm3 |
A |
T |
1: 173,172,630 (GRCm39) |
|
probably null |
Het |
| Car14 |
A |
G |
3: 95,811,690 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cdc20b |
A |
G |
13: 113,217,725 (GRCm39) |
I381M |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,540,639 (GRCm39) |
V2449I |
probably benign |
Het |
| Crb2 |
T |
C |
2: 37,685,349 (GRCm39) |
|
probably benign |
Het |
| Dcaf6 |
A |
T |
1: 165,218,059 (GRCm39) |
D347E |
probably damaging |
Het |
| Dlgap2 |
G |
A |
8: 14,777,871 (GRCm39) |
R372H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,834,238 (GRCm39) |
N4118S |
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Fpr2 |
A |
C |
17: 18,113,509 (GRCm39) |
R168S |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,355,440 (GRCm39) |
I281T |
probably damaging |
Het |
| Glmp |
C |
A |
3: 88,235,346 (GRCm39) |
N259K |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,273,561 (GRCm39) |
K564E |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,870,626 (GRCm39) |
H2875R |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,452,608 (GRCm39) |
D438G |
possibly damaging |
Het |
| Lrfn2 |
T |
A |
17: 49,376,922 (GRCm39) |
M1K |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,462,825 (GRCm39) |
C612R |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,724,525 (GRCm39) |
V341A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,042,126 (GRCm39) |
C1315S |
probably benign |
Het |
| Mrgpra9 |
A |
T |
7: 46,884,938 (GRCm39) |
L243H |
probably damaging |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,447 (GRCm39) |
D100G |
probably benign |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,041,264 (GRCm39) |
Y801H |
probably damaging |
Het |
| Or51b6b |
C |
T |
7: 103,309,539 (GRCm39) |
R306H |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Plpp2 |
A |
G |
10: 79,366,459 (GRCm39) |
Y118H |
probably damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,346,167 (GRCm39) |
V496A |
probably benign |
Het |
| Rbm20 |
A |
G |
19: 53,805,633 (GRCm39) |
N466S |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Skida1 |
T |
C |
2: 18,050,683 (GRCm39) |
|
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,803,197 (GRCm39) |
Y73H |
probably damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,085 (GRCm39) |
I287T |
probably damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,211,401 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
G |
A |
11: 115,707,932 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
| Wdr36 |
G |
A |
18: 32,974,201 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or6c69b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01592:Or6c69b
|
APN |
10 |
129,627,188 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02365:Or6c69b
|
APN |
10 |
129,627,404 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02508:Or6c69b
|
APN |
10 |
129,626,660 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0638:Or6c69b
|
UTSW |
10 |
129,627,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0680:Or6c69b
|
UTSW |
10 |
129,626,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0847:Or6c69b
|
UTSW |
10 |
129,627,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Or6c69b
|
UTSW |
10 |
129,626,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Or6c69b
|
UTSW |
10 |
129,627,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1938:Or6c69b
|
UTSW |
10 |
129,626,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3836:Or6c69b
|
UTSW |
10 |
129,627,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4816:Or6c69b
|
UTSW |
10 |
129,627,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6287:Or6c69b
|
UTSW |
10 |
129,627,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8080:Or6c69b
|
UTSW |
10 |
129,626,997 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8202:Or6c69b
|
UTSW |
10 |
129,626,518 (GRCm39) |
makesense |
probably null |
|
|
R8696:Or6c69b
|
UTSW |
10 |
129,626,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9065:Or6c69b
|
UTSW |
10 |
129,626,727 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9313:Or6c69b
|
UTSW |
10 |
129,626,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Or6c69b
|
UTSW |
10 |
129,627,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9707:Or6c69b
|
UTSW |
10 |
129,627,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGTAAGAGTGTTACCAAAGCTG -3'
(R):5'- ACATGCATCCCCAAATTGCTTG -3'
Sequencing Primer
(F):5'- CTGAGACAAATCCCATTGTTTCCAGG -3'
(R):5'- CCCAAATTGCTTGTTACTATGGCAAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation