Incidental Mutation 'R3751:Or2g1'
| ID |
271235 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2g1
|
| Ensembl Gene |
ENSMUSG00000045202 |
| Gene Name |
olfactory receptor family 2 subfamily G member 1 |
| Synonyms |
MOR256-9, GA_x6K02T2PSCP-2255106-2256035, Olfr123 |
| MMRRC Submission |
040736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R3751 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
38106337-38107266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38107123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 263
(S263P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054748]
[ENSMUST00000214770]
[ENSMUST00000215168]
[ENSMUST00000216051]
[ENSMUST00000216478]
[ENSMUST00000217365]
|
| AlphaFold |
Q8VFQ1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054748
AA Change: S263P
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058678
Gene: ENSMUSG00000045202
AA Change: S263P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
23 |
163 |
2.9e-6 |
PFAM |
|
Pfam:7tm_4
|
29 |
306 |
2.3e-44 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
144 |
2.4e-5 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174446
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214770
AA Change: S263P
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215168
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216051
AA Change: S263P
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216478
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217365
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
93% (43/46) |
| 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 |
|---|
| 2900092C05Rik |
G |
T |
7: 12,289,973 (GRCm39) |
R183I |
probably benign |
Het |
| BC016579 |
A |
T |
16: 45,453,361 (GRCm39) |
|
probably null |
Het |
| BC051665 |
A |
T |
13: 60,931,145 (GRCm39) |
F258I |
probably damaging |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Ccdc125 |
A |
G |
13: 100,814,459 (GRCm39) |
D13G |
possibly damaging |
Het |
| Ceacam18 |
T |
A |
7: 43,291,372 (GRCm39) |
H271Q |
probably damaging |
Het |
| Cep104 |
A |
G |
4: 154,066,213 (GRCm39) |
Y137C |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,724,424 (GRCm39) |
V212A |
probably benign |
Het |
| Clca3a2 |
A |
T |
3: 144,777,216 (GRCm39) |
M885K |
probably benign |
Het |
| Col6a4 |
G |
T |
9: 105,949,313 (GRCm39) |
T774N |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,085,403 (GRCm39) |
T1049A |
possibly damaging |
Het |
| Dlk1 |
A |
G |
12: 109,426,239 (GRCm39) |
I276V |
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Efcab9 |
T |
C |
11: 32,477,420 (GRCm39) |
H34R |
probably benign |
Het |
| Erc1 |
T |
A |
6: 119,801,921 (GRCm39) |
H32L |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,532,998 (GRCm39) |
I141M |
possibly damaging |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Iqsec3 |
C |
T |
6: 121,353,214 (GRCm39) |
A1135T |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,326,641 (GRCm39) |
I121N |
probably damaging |
Het |
| Krtap17-1 |
A |
T |
11: 99,884,481 (GRCm39) |
C95* |
probably null |
Het |
| Lrrd1 |
T |
A |
5: 3,900,282 (GRCm39) |
S196T |
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,048,058 (GRCm39) |
Y748C |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,867,742 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,780,997 (GRCm39) |
L31P |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,183,284 (GRCm39) |
Q886R |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,118,115 (GRCm39) |
|
probably benign |
Het |
| Or6c38 |
T |
A |
10: 128,929,175 (GRCm39) |
I223F |
probably damaging |
Het |
| Or7h8 |
C |
T |
9: 20,124,556 (GRCm39) |
L304F |
probably damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Pdgfd |
A |
T |
9: 6,337,447 (GRCm39) |
|
probably benign |
Het |
| Ppm1k |
T |
G |
6: 57,501,845 (GRCm39) |
E106A |
probably benign |
Het |
| Rbp3 |
A |
T |
14: 33,677,969 (GRCm39) |
E639V |
probably damaging |
Het |
| Rnf214 |
A |
C |
9: 45,778,901 (GRCm39) |
I581S |
probably damaging |
Het |
| Scaf11 |
A |
G |
15: 96,316,417 (GRCm39) |
V1049A |
probably damaging |
Het |
| Slc51a |
A |
G |
16: 32,295,292 (GRCm39) |
L262P |
probably benign |
Het |
| Slc6a21 |
G |
A |
7: 44,929,928 (GRCm39) |
V139I |
probably benign |
Het |
| Slc8a3 |
G |
T |
12: 81,250,912 (GRCm39) |
L684M |
probably damaging |
Het |
| Spg7 |
G |
C |
8: 123,814,112 (GRCm39) |
R457P |
probably damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,889,066 (GRCm39) |
|
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,382 (GRCm39) |
T152A |
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp366 |
A |
G |
13: 99,365,352 (GRCm39) |
Y171C |
probably damaging |
Het |
|
| Other mutations in Or2g1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01409:Or2g1
|
APN |
17 |
38,106,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03030:Or2g1
|
APN |
17 |
38,107,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03107:Or2g1
|
APN |
17 |
38,106,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0329:Or2g1
|
UTSW |
17 |
38,106,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0330:Or2g1
|
UTSW |
17 |
38,106,880 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0524:Or2g1
|
UTSW |
17 |
38,106,496 (GRCm39) |
nonsense |
probably null |
|
|
R0581:Or2g1
|
UTSW |
17 |
38,106,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1288:Or2g1
|
UTSW |
17 |
38,106,584 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1897:Or2g1
|
UTSW |
17 |
38,107,075 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3753:Or2g1
|
UTSW |
17 |
38,107,123 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3780:Or2g1
|
UTSW |
17 |
38,106,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3947:Or2g1
|
UTSW |
17 |
38,107,006 (GRCm39) |
missense |
probably benign |
|
|
R5925:Or2g1
|
UTSW |
17 |
38,106,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5987:Or2g1
|
UTSW |
17 |
38,107,248 (GRCm39) |
missense |
probably benign |
|
|
R6369:Or2g1
|
UTSW |
17 |
38,106,387 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6891:Or2g1
|
UTSW |
17 |
38,106,395 (GRCm39) |
missense |
probably benign |
|
|
R7320:Or2g1
|
UTSW |
17 |
38,107,248 (GRCm39) |
missense |
probably benign |
|
|
R7997:Or2g1
|
UTSW |
17 |
38,107,053 (GRCm39) |
nonsense |
probably null |
|
|
R8153:Or2g1
|
UTSW |
17 |
38,106,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8793:Or2g1
|
UTSW |
17 |
38,107,255 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9348:Or2g1
|
UTSW |
17 |
38,106,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCCTCATTGGTCTTGCTG -3'
(R):5'- GCCAAGATGACTTCAGTGCAAC -3'
Sequencing Primer
(F):5'- GCTCCTACCCTTAGCCCTGATAC -3'
(R):5'- ATGACAGTATGTTCAGGATCCTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation