Incidental Mutation 'R1122:Or1o2'
| ID |
95786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1o2
|
| Ensembl Gene |
ENSMUSG00000058802 |
| Gene Name |
olfactory receptor family 1 subfamily O member 2 |
| Synonyms |
MOR156-2, GA_x6K02T2PSCP-1672287-1671355, Olfr97 |
| MMRRC Submission |
039195-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R1122 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37542327-37543259 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37542934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 109
(D109V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073667]
[ENSMUST00000207414]
[ENSMUST00000213328]
[ENSMUST00000214622]
[ENSMUST00000214848]
[ENSMUST00000216225]
|
| AlphaFold |
Q8VFE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073667
AA Change: D109V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094937
Gene: ENSMUSG00000058802
AA Change: D109V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
24 |
305 |
4.5e-9 |
PFAM |
|
Pfam:7tm_4
|
29 |
306 |
1.4e-54 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
303 |
1.1e-5 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
8.6e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207414
AA Change: D109V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213328
AA Change: D109V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214622
AA Change: D109V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214848
AA Change: D109V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216225
AA Change: D109V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
G |
A |
11: 69,902,203 (GRCm39) |
L469F |
probably damaging |
Het |
| Adgrb1 |
C |
A |
15: 74,419,534 (GRCm39) |
R792S |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Arhgap15 |
A |
T |
2: 44,032,307 (GRCm39) |
H297L |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,943,597 (GRCm39) |
E333G |
probably damaging |
Het |
| Cyb5a |
A |
G |
18: 84,895,964 (GRCm39) |
T77A |
possibly damaging |
Het |
| Entrep1 |
T |
C |
19: 23,952,756 (GRCm39) |
E518G |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,650,821 (GRCm39) |
W456R |
possibly damaging |
Het |
| Fhip2a |
A |
T |
19: 57,370,733 (GRCm39) |
T551S |
probably benign |
Het |
| Gad2 |
A |
T |
2: 22,513,463 (GRCm39) |
Q31L |
possibly damaging |
Het |
| Gm9637 |
T |
A |
14: 19,401,879 (GRCm38) |
|
noncoding transcript |
Het |
| Itgav |
A |
G |
2: 83,622,283 (GRCm39) |
T622A |
probably benign |
Het |
| Kifc5b |
T |
A |
17: 27,143,035 (GRCm39) |
V269E |
probably benign |
Het |
| Lrrc15 |
T |
C |
16: 30,092,719 (GRCm39) |
N207D |
probably damaging |
Het |
| Map2k5 |
A |
G |
9: 63,170,445 (GRCm39) |
V291A |
probably damaging |
Het |
| Mrc1 |
G |
A |
2: 14,266,147 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or12d12 |
T |
A |
17: 37,611,019 (GRCm39) |
Q98L |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,457,981 (GRCm39) |
V294A |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Rnf220 |
C |
T |
4: 117,135,277 (GRCm39) |
G171S |
probably benign |
Het |
| Slc6a4 |
T |
C |
11: 76,918,012 (GRCm39) |
S585P |
possibly damaging |
Het |
| Slc7a8 |
T |
C |
14: 54,961,564 (GRCm39) |
E528G |
probably benign |
Het |
| Slco4c1 |
A |
G |
1: 96,756,561 (GRCm39) |
I587T |
possibly damaging |
Het |
| Syt4 |
T |
A |
18: 31,573,255 (GRCm39) |
H420L |
probably damaging |
Het |
| Tec |
T |
C |
5: 72,936,792 (GRCm39) |
K236E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,545,676 (GRCm39) |
V32549A |
probably damaging |
Het |
| Uqcc4 |
T |
C |
17: 25,403,846 (GRCm39) |
I62T |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,030,832 (GRCm39) |
H2299R |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,743,403 (GRCm39) |
V64A |
possibly damaging |
Het |
|
| Other mutations in Or1o2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01934:Or1o2
|
APN |
17 |
37,542,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02424:Or1o2
|
APN |
17 |
37,543,263 (GRCm39) |
start gained |
probably benign |
|
|
IGL03129:Or1o2
|
APN |
17 |
37,543,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0619:Or1o2
|
UTSW |
17 |
37,543,046 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0811:Or1o2
|
UTSW |
17 |
37,543,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0812:Or1o2
|
UTSW |
17 |
37,543,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1927:Or1o2
|
UTSW |
17 |
37,542,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1997:Or1o2
|
UTSW |
17 |
37,542,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Or1o2
|
UTSW |
17 |
37,542,356 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R3775:Or1o2
|
UTSW |
17 |
37,543,121 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4182:Or1o2
|
UTSW |
17 |
37,542,739 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4183:Or1o2
|
UTSW |
17 |
37,542,739 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4184:Or1o2
|
UTSW |
17 |
37,542,739 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4198:Or1o2
|
UTSW |
17 |
37,543,025 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7453:Or1o2
|
UTSW |
17 |
37,542,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7615:Or1o2
|
UTSW |
17 |
37,542,341 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7829:Or1o2
|
UTSW |
17 |
37,543,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8223:Or1o2
|
UTSW |
17 |
37,542,727 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8526:Or1o2
|
UTSW |
17 |
37,542,470 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9098:Or1o2
|
UTSW |
17 |
37,542,961 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1177:Or1o2
|
UTSW |
17 |
37,543,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATTGAGGTGAGCATCAGAGCAG -3'
(R):5'- AGAGAAATGGCAACCCCTCTTTAGC -3'
Sequencing Primer
(F):5'- TAAGAGAGGCCCAAAGTCAC -3'
(R):5'- AGCTATTGGCACTGATGTCCAC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation