Incidental Mutation 'R2340:Or8g34'
| ID |
246710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8g34
|
| Ensembl Gene |
ENSMUSG00000094745 |
| Gene Name |
olfactory receptor family 8 subfamily G member 34 |
| Synonyms |
GA_x6K02T2PVTD-33158015-33158950, MOR171-42, Olfr954, MOR171-53 |
| MMRRC Submission |
040326-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R2340 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
39372729-39373673 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39373105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 126
(Y126C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080329]
[ENSMUST00000214818]
|
| AlphaFold |
Q9EQB6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080329
AA Change: Y126C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079205
Gene: ENSMUSG00000094745
AA Change: Y126C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
2.6e-52 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
264 |
3e-5 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
1e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214818
AA Change: Y123C
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219910
|
| Meta Mutation Damage Score |
0.1428 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (37/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,349,165 (GRCm39) |
I3580F |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,668,905 (GRCm39) |
K280E |
probably benign |
Het |
| Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
| Clu |
T |
C |
14: 66,218,358 (GRCm39) |
V406A |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,490,741 (GRCm39) |
K114E |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,400,945 (GRCm39) |
D149E |
probably damaging |
Het |
| Entrep2 |
A |
G |
7: 64,425,565 (GRCm39) |
S176P |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,160,922 (GRCm39) |
D3269E |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,591,187 (GRCm39) |
D69G |
probably damaging |
Het |
| Hacd1 |
G |
T |
2: 14,040,698 (GRCm39) |
P186T |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Kif2c |
A |
G |
4: 117,027,038 (GRCm39) |
V320A |
probably damaging |
Het |
| Lypd2 |
T |
A |
15: 74,606,103 (GRCm39) |
I12L |
probably benign |
Het |
| Midn |
G |
T |
10: 79,985,946 (GRCm39) |
R12L |
possibly damaging |
Het |
| Or2b6 |
T |
C |
13: 21,822,757 (GRCm39) |
K312R |
probably benign |
Het |
| Or9q2 |
A |
G |
19: 13,772,135 (GRCm39) |
V280A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,271,079 (GRCm39) |
V3158E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rad51d |
T |
C |
11: 82,772,647 (GRCm39) |
D206G |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,194,240 (GRCm39) |
F58L |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,422,205 (GRCm39) |
I96T |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,066,089 (GRCm39) |
F500I |
probably damaging |
Het |
| Rph3al |
T |
C |
11: 75,724,258 (GRCm39) |
T282A |
probably benign |
Het |
| Serpina11 |
T |
C |
12: 103,951,002 (GRCm39) |
R240G |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,033,122 (GRCm39) |
I400N |
probably benign |
Het |
| Slco1a4 |
C |
A |
6: 141,787,103 (GRCm39) |
C28F |
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,184,174 (GRCm39) |
I134N |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,798,747 (GRCm39) |
M253K |
probably damaging |
Het |
| Tmem184b |
T |
A |
15: 79,262,732 (GRCm39) |
M42L |
probably benign |
Het |
| Tnnt1 |
G |
A |
7: 4,516,615 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,938,922 (GRCm39) |
S407T |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,973,390 (GRCm39) |
E1117G |
probably damaging |
Het |
| Zfp606 |
A |
G |
7: 12,227,016 (GRCm39) |
E321G |
possibly damaging |
Het |
|
| Other mutations in Or8g34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02704:Or8g34
|
APN |
9 |
39,373,579 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02793:Or8g34
|
APN |
9 |
39,372,802 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02964:Or8g34
|
APN |
9 |
39,373,077 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02979:Or8g34
|
APN |
9 |
39,372,819 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0041:Or8g34
|
UTSW |
9 |
39,372,772 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0153:Or8g34
|
UTSW |
9 |
39,372,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0269:Or8g34
|
UTSW |
9 |
39,373,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Or8g34
|
UTSW |
9 |
39,372,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0731:Or8g34
|
UTSW |
9 |
39,372,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1800:Or8g34
|
UTSW |
9 |
39,373,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2901:Or8g34
|
UTSW |
9 |
39,373,234 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2912:Or8g34
|
UTSW |
9 |
39,373,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Or8g34
|
UTSW |
9 |
39,373,226 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2940:Or8g34
|
UTSW |
9 |
39,373,226 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3081:Or8g34
|
UTSW |
9 |
39,373,226 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3765:Or8g34
|
UTSW |
9 |
39,372,920 (GRCm39) |
nonsense |
probably null |
|
|
R4450:Or8g34
|
UTSW |
9 |
39,373,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4515:Or8g34
|
UTSW |
9 |
39,373,527 (GRCm39) |
nonsense |
probably null |
|
|
R4786:Or8g34
|
UTSW |
9 |
39,373,137 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4961:Or8g34
|
UTSW |
9 |
39,373,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5219:Or8g34
|
UTSW |
9 |
39,373,563 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5602:Or8g34
|
UTSW |
9 |
39,373,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5887:Or8g34
|
UTSW |
9 |
39,372,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5950:Or8g34
|
UTSW |
9 |
39,373,633 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6943:Or8g34
|
UTSW |
9 |
39,373,159 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7567:Or8g34
|
UTSW |
9 |
39,373,173 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8817:Or8g34
|
UTSW |
9 |
39,373,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9251:Or8g34
|
UTSW |
9 |
39,373,668 (GRCm39) |
missense |
probably benign |
|
|
X0060:Or8g34
|
UTSW |
9 |
39,373,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or8g34
|
UTSW |
9 |
39,372,997 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGGGCTCAGTTCCAACC -3'
(R):5'- GCATGCAAGTTTCAAGAGGG -3'
Sequencing Primer
(F):5'- GGCTCAGTTCCAACCTGCAC -3'
(R):5'- TTTCAAGAGGGGAAGGAAATCAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation