Incidental Mutation 'R6922:Or2d36'
| ID |
539679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2d36
|
| Ensembl Gene |
ENSMUSG00000073896 |
| Gene Name |
olfactory receptor family 2 subfamily D member 36 |
| Synonyms |
MOR260-2, Olfr716, GA_x6K02T2PBJ9-9497411-9498355 |
| MMRRC Submission |
045041-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R6922 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
106746505-106747536 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106747290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 256
(I256V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150175
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098137]
[ENSMUST00000209942]
[ENSMUST00000210474]
[ENSMUST00000213367]
[ENSMUST00000214819]
[ENSMUST00000215284]
[ENSMUST00000216871]
|
| AlphaFold |
Q9EPG6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098137
AA Change: I256V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095740
Gene: ENSMUSG00000073896
AA Change: I256V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
2.4e-57 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209942
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210474
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213367
AA Change: I256V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214819
AA Change: I256V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215284
AA Change: I256V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216871
AA Change: I256V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
T |
C |
15: 72,985,601 (GRCm39) |
I665V |
probably benign |
Het |
| Aoc1l3 |
T |
G |
6: 48,964,508 (GRCm39) |
F172C |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,063,983 (GRCm39) |
M74L |
possibly damaging |
Het |
| Asb4 |
T |
C |
6: 5,398,304 (GRCm39) |
C90R |
possibly damaging |
Het |
| B3galt4 |
T |
A |
17: 34,169,821 (GRCm39) |
D139V |
probably damaging |
Het |
| Camta2 |
A |
C |
11: 70,564,964 (GRCm39) |
I852S |
probably benign |
Het |
| Cd200l1 |
A |
T |
16: 45,264,294 (GRCm39) |
M88K |
probably benign |
Het |
| Cox4i2 |
G |
T |
2: 152,599,015 (GRCm39) |
E57D |
probably benign |
Het |
| Dip2b |
T |
C |
15: 100,091,724 (GRCm39) |
I1055T |
probably benign |
Het |
| Eif1ad18 |
T |
A |
12: 88,050,602 (GRCm39) |
W46R |
probably benign |
Het |
| Eif4g3 |
C |
T |
4: 137,824,646 (GRCm39) |
P284S |
probably damaging |
Het |
| Ephb1 |
C |
A |
9: 101,806,463 (GRCm39) |
|
probably null |
Het |
| Fbxw7 |
A |
T |
3: 84,879,723 (GRCm39) |
|
probably null |
Het |
| Frem1 |
C |
A |
4: 82,840,506 (GRCm39) |
D1789Y |
probably damaging |
Het |
| Gm29106 |
A |
T |
1: 118,127,524 (GRCm39) |
R405S |
probably damaging |
Het |
| Greb1l |
G |
A |
18: 10,547,482 (GRCm39) |
V1567M |
possibly damaging |
Het |
| Hapstr1 |
A |
G |
16: 8,648,553 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
C |
A |
13: 12,449,956 (GRCm39) |
D1983E |
probably benign |
Het |
| Lhfpl2 |
G |
T |
13: 94,311,029 (GRCm39) |
A100S |
probably damaging |
Het |
| Lrp5 |
A |
T |
19: 3,655,301 (GRCm39) |
V1073D |
probably damaging |
Het |
| Naip6 |
G |
A |
13: 100,438,706 (GRCm39) |
L364F |
possibly damaging |
Het |
| Nek9 |
A |
G |
12: 85,350,311 (GRCm39) |
L921P |
probably damaging |
Het |
| Nim1k |
C |
T |
13: 120,189,263 (GRCm39) |
E49K |
probably damaging |
Het |
| Nsun5 |
A |
C |
5: 135,399,046 (GRCm39) |
N32T |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,855,092 (GRCm39) |
S325P |
probably damaging |
Het |
| Or5w12 |
T |
A |
2: 87,501,797 (GRCm39) |
K305* |
probably null |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,710 (GRCm39) |
D239G |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,444,273 (GRCm39) |
D523G |
probably benign |
Het |
| Prokr1 |
C |
A |
6: 87,565,455 (GRCm39) |
W130L |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,562 (GRCm39) |
N266S |
probably damaging |
Het |
| Rdh10 |
T |
C |
1: 16,176,255 (GRCm39) |
V5A |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,267,834 (GRCm39) |
L1140P |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,448,874 (GRCm39) |
D3640G |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,668,749 (GRCm39) |
E916G |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,171,624 (GRCm39) |
H160Q |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,147,779 (GRCm39) |
|
probably null |
Het |
| Tmprss4 |
A |
G |
9: 45,097,220 (GRCm39) |
V15A |
probably benign |
Het |
| Togaram2 |
T |
C |
17: 72,014,129 (GRCm39) |
L559P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,213,045 (GRCm39) |
L990H |
probably damaging |
Het |
| Ttll7 |
A |
G |
3: 146,615,369 (GRCm39) |
T278A |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,604,780 (GRCm39) |
L18385F |
probably damaging |
Het |
| Upf3a |
G |
T |
8: 13,841,911 (GRCm39) |
A149S |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfp316 |
A |
T |
5: 143,239,280 (GRCm39) |
F913Y |
probably damaging |
Het |
|
| Other mutations in Or2d36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01781:Or2d36
|
APN |
7 |
106,746,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02792:Or2d36
|
APN |
7 |
106,747,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03300:Or2d36
|
APN |
7 |
106,746,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Or2d36
|
UTSW |
7 |
106,746,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Or2d36
|
UTSW |
7 |
106,746,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Or2d36
|
UTSW |
7 |
106,747,394 (GRCm39) |
nonsense |
probably null |
|
|
R0962:Or2d36
|
UTSW |
7 |
106,747,294 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1440:Or2d36
|
UTSW |
7 |
106,747,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5561:Or2d36
|
UTSW |
7 |
106,747,297 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5700:Or2d36
|
UTSW |
7 |
106,746,748 (GRCm39) |
missense |
probably benign |
|
|
R5997:Or2d36
|
UTSW |
7 |
106,746,535 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6262:Or2d36
|
UTSW |
7 |
106,746,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7076:Or2d36
|
UTSW |
7 |
106,747,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8025:Or2d36
|
UTSW |
7 |
106,746,930 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9256:Or2d36
|
UTSW |
7 |
106,747,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9746:Or2d36
|
UTSW |
7 |
106,746,660 (GRCm39) |
missense |
probably benign |
0.14 |
|
Z1088:Or2d36
|
UTSW |
7 |
106,747,419 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Or2d36
|
UTSW |
7 |
106,747,362 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAATGGGTGTGGTAATCC -3'
(R):5'- AAATCCTGCCCCATTTTCAAAG -3'
Sequencing Primer
(F):5'- GGTGTGGTAATCCTCCTAGCAC -3'
(R):5'- CCCTATAGGTCATTGCTTTCGAAAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation