Incidental Mutation 'R4541:Or10g9b'
| ID |
333538 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10g9b
|
| Ensembl Gene |
ENSMUSG00000060254 |
| Gene Name |
olfactory receptor family 10 subfamily G member 9B |
| Synonyms |
MOR223-2, GA_x6K02T2PVTD-33705428-33704496, Olfr980 |
| MMRRC Submission |
041777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R4541 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
39917290-39918325 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 39917589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 219
(S219A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073932]
[ENSMUST00000215523]
[ENSMUST00000216463]
|
| AlphaFold |
Q8VH08 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073932
AA Change: S219A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091386
Gene: ENSMUSG00000060254
AA Change: S219A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
304 |
1.4e-55 |
PFAM |
|
Pfam:7tm_1
|
39 |
287 |
5.4e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215523
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216463
AA Change: S219A
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.2643 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
96% (51/53) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,769,676 (GRCm39) |
P73S |
probably benign |
Het |
| 4930533L02Rik |
G |
A |
7: 124,917,750 (GRCm39) |
|
noncoding transcript |
Het |
| Acot4 |
A |
T |
12: 84,090,022 (GRCm39) |
I240F |
probably benign |
Het |
| B4galt6 |
A |
G |
18: 20,878,496 (GRCm39) |
V10A |
probably benign |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Ccnb3 |
T |
C |
X: 6,875,308 (GRCm39) |
T424A |
probably benign |
Het |
| Cd8a |
A |
T |
6: 71,350,856 (GRCm39) |
D107V |
probably benign |
Het |
| Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
| Ceacam12 |
G |
A |
7: 17,805,648 (GRCm39) |
M278I |
probably benign |
Het |
| Cfap43 |
C |
T |
19: 47,736,454 (GRCm39) |
V1346I |
probably benign |
Het |
| Clic5 |
C |
T |
17: 44,552,956 (GRCm39) |
T70M |
probably damaging |
Het |
| Dbpht2 |
A |
T |
12: 74,345,934 (GRCm39) |
|
noncoding transcript |
Het |
| Ddhd1 |
G |
A |
14: 45,860,313 (GRCm39) |
R140* |
probably null |
Het |
| Evpl |
T |
G |
11: 116,123,470 (GRCm39) |
I301L |
probably benign |
Het |
| Glul |
T |
A |
1: 153,778,782 (GRCm39) |
Y30* |
probably null |
Het |
| Itgad |
A |
T |
7: 127,797,287 (GRCm39) |
H878L |
probably benign |
Het |
| Kcnk10 |
A |
G |
12: 98,402,536 (GRCm39) |
I301T |
probably damaging |
Het |
| Klhl14 |
A |
T |
18: 21,687,696 (GRCm39) |
Y575* |
probably null |
Het |
| Mrps2 |
G |
T |
2: 28,358,412 (GRCm39) |
|
probably benign |
Het |
| Mymx |
GCC |
GC |
17: 45,912,519 (GRCm39) |
|
probably null |
Het |
| Napb |
G |
A |
2: 148,551,229 (GRCm39) |
|
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,171,706 (GRCm39) |
|
noncoding transcript |
Het |
| Or4f15 |
A |
G |
2: 111,813,981 (GRCm39) |
I146T |
probably benign |
Het |
| Piwil4 |
C |
A |
9: 14,629,612 (GRCm39) |
M438I |
probably damaging |
Het |
| Pla2r1 |
C |
T |
2: 60,258,082 (GRCm39) |
D1199N |
probably damaging |
Het |
| Pmpca |
T |
G |
2: 26,280,201 (GRCm39) |
|
probably benign |
Het |
| Prkcq |
G |
T |
2: 11,288,623 (GRCm39) |
M525I |
possibly damaging |
Het |
| Rnf225 |
T |
C |
7: 12,662,520 (GRCm39) |
|
probably null |
Het |
| Sco1 |
G |
T |
11: 66,943,668 (GRCm39) |
A50S |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,046,037 (GRCm39) |
|
probably null |
Het |
| Slc36a1 |
T |
C |
11: 55,112,849 (GRCm39) |
V148A |
probably benign |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Tbc1d10c |
G |
T |
19: 4,239,473 (GRCm39) |
R96S |
probably damaging |
Het |
| Tbc1d2b |
A |
T |
9: 90,087,222 (GRCm39) |
I919N |
probably damaging |
Het |
| Tcea1 |
T |
C |
1: 4,963,659 (GRCm39) |
L233P |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,028,884 (GRCm39) |
M1T |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,641,224 (GRCm39) |
T223A |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tomm34 |
A |
G |
2: 163,896,719 (GRCm39) |
Y243H |
probably benign |
Het |
| Tubgcp4 |
A |
T |
2: 121,025,907 (GRCm39) |
N584I |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,216,192 (GRCm39) |
C7R |
probably damaging |
Het |
| Vmn1r42 |
A |
T |
6: 89,822,533 (GRCm39) |
M12K |
probably benign |
Het |
| Vsig10 |
C |
T |
5: 117,490,881 (GRCm39) |
|
probably benign |
Het |
| Zfp974 |
C |
G |
7: 27,625,829 (GRCm39) |
V14L |
probably damaging |
Het |
|
| Other mutations in Or10g9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02256:Or10g9b
|
APN |
9 |
39,917,349 (GRCm39) |
missense |
probably benign |
|
|
IGL02378:Or10g9b
|
APN |
9 |
39,917,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03384:Or10g9b
|
APN |
9 |
39,917,766 (GRCm39) |
missense |
probably benign |
|
|
IGL03402:Or10g9b
|
APN |
9 |
39,917,802 (GRCm39) |
missense |
probably benign |
0.31 |
|
BB010:Or10g9b
|
UTSW |
9 |
39,918,431 (GRCm39) |
start gained |
probably benign |
|
|
PIT4651001:Or10g9b
|
UTSW |
9 |
39,917,526 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0013:Or10g9b
|
UTSW |
9 |
39,917,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Or10g9b
|
UTSW |
9 |
39,917,390 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1146:Or10g9b
|
UTSW |
9 |
39,917,390 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4562:Or10g9b
|
UTSW |
9 |
39,917,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4731:Or10g9b
|
UTSW |
9 |
39,917,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Or10g9b
|
UTSW |
9 |
39,917,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Or10g9b
|
UTSW |
9 |
39,917,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Or10g9b
|
UTSW |
9 |
39,918,038 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5619:Or10g9b
|
UTSW |
9 |
39,918,039 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5770:Or10g9b
|
UTSW |
9 |
39,917,634 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5791:Or10g9b
|
UTSW |
9 |
39,918,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6813:Or10g9b
|
UTSW |
9 |
39,917,753 (GRCm39) |
missense |
probably benign |
|
|
R6819:Or10g9b
|
UTSW |
9 |
39,917,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6970:Or10g9b
|
UTSW |
9 |
39,918,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7490:Or10g9b
|
UTSW |
9 |
39,917,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Or10g9b
|
UTSW |
9 |
39,918,229 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7933:Or10g9b
|
UTSW |
9 |
39,918,431 (GRCm39) |
start gained |
probably benign |
|
|
R8243:Or10g9b
|
UTSW |
9 |
39,917,484 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1088:Or10g9b
|
UTSW |
9 |
39,917,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGTAGAAAACTGTCACCAC -3'
(R):5'- GCAGCAGGAACATGGATCAC -3'
Sequencing Primer
(F):5'- GTGTAGAAAACTGTCACCACTCCATC -3'
(R):5'- CAGGAACATGGATCACTGGTTCC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation