Incidental Mutation 'R7309:Or8g21'
| ID |
567451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8g21
|
| Ensembl Gene |
ENSMUSG00000059595 |
| Gene Name |
olfactory receptor family 8 subfamily G member 21 |
| Synonyms |
MOR171-11, GA_x6K02T2PVTD-32691280-32690354, Olfr935 |
| MMRRC Submission |
045408-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R7309 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
38905803-38906729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38906576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 52
(S52C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080748]
[ENSMUST00000214157]
|
| AlphaFold |
Q8VG16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080748
AA Change: S52C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079572
Gene: ENSMUSG00000059595
AA Change: S52C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
4e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.2e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214157
AA Change: S52C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
94% (47/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
C |
5: 109,884,819 (GRCm39) |
H346Q |
probably damaging |
Het |
| 4932414N04Rik |
A |
T |
2: 68,546,530 (GRCm39) |
I71L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,516,604 (GRCm39) |
S377P |
probably damaging |
Het |
| Cldnd2 |
A |
G |
7: 43,091,133 (GRCm39) |
T22A |
possibly damaging |
Het |
| Comp |
A |
T |
8: 70,826,328 (GRCm39) |
|
probably null |
Het |
| Cop1 |
A |
G |
1: 159,134,195 (GRCm39) |
K446E |
probably damaging |
Het |
| Cox18 |
T |
C |
5: 90,362,917 (GRCm39) |
T314A |
possibly damaging |
Het |
| Csrp3 |
A |
G |
7: 48,485,317 (GRCm39) |
V60A |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 31,093,988 (GRCm39) |
Y4694F |
probably damaging |
Het |
| Dnm1l |
A |
G |
16: 16,139,510 (GRCm39) |
Y493H |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 139,967,011 (GRCm39) |
|
probably null |
Het |
| Fam187a |
T |
A |
11: 102,776,832 (GRCm39) |
V212E |
probably damaging |
Het |
| Fign |
A |
T |
2: 63,810,301 (GRCm39) |
M323K |
possibly damaging |
Het |
| Foxf2 |
A |
G |
13: 31,810,496 (GRCm39) |
K145R |
probably damaging |
Het |
| Fxyd5 |
T |
C |
7: 30,734,829 (GRCm39) |
N133D |
probably benign |
Het |
| Hnrnpdl |
A |
T |
5: 100,185,482 (GRCm39) |
L240* |
probably null |
Het |
| Kcna7 |
T |
G |
7: 45,058,679 (GRCm39) |
F322C |
probably damaging |
Het |
| Kcnj9 |
A |
G |
1: 172,153,825 (GRCm39) |
C100R |
probably damaging |
Het |
| Lrrc14b |
C |
A |
13: 74,511,321 (GRCm39) |
C253F |
probably benign |
Het |
| Map3k11 |
T |
C |
19: 5,740,486 (GRCm39) |
V71A |
probably damaging |
Het |
| Med13 |
C |
A |
11: 86,181,888 (GRCm39) |
M1315I |
probably benign |
Het |
| Mettl24 |
T |
C |
10: 40,686,496 (GRCm39) |
V291A |
probably benign |
Het |
| Miox |
G |
T |
15: 89,220,252 (GRCm39) |
C148F |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,300,195 (GRCm39) |
|
probably null |
Het |
| Mthfsd |
G |
A |
8: 121,835,070 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
G |
A |
16: 48,916,828 (GRCm39) |
A383T |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,200,670 (GRCm39) |
H117R |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,702,384 (GRCm39) |
M23K |
probably benign |
Het |
| Or14c45 |
T |
A |
7: 86,176,349 (GRCm39) |
L128H |
probably damaging |
Het |
| Or4c3d |
T |
A |
2: 89,881,801 (GRCm39) |
N289I |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,374,893 (GRCm39) |
|
probably null |
Het |
| Plcz1 |
A |
T |
6: 139,968,882 (GRCm39) |
D185E |
probably damaging |
Het |
| Plekhg5 |
C |
A |
4: 152,196,985 (GRCm39) |
Q757K |
possibly damaging |
Het |
| Prr23a2 |
T |
A |
9: 98,739,027 (GRCm39) |
D128E |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,118 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,416,712 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
T |
14: 31,100,246 (GRCm39) |
V221M |
probably benign |
Het |
| Slc25a27 |
A |
T |
17: 43,975,083 (GRCm39) |
D59E |
probably benign |
Het |
| Slc35e1 |
G |
C |
8: 73,246,358 (GRCm39) |
R25G |
unknown |
Het |
| Slc4a4 |
T |
C |
5: 89,318,610 (GRCm39) |
V626A |
probably benign |
Het |
| Slfn5 |
T |
C |
11: 82,847,529 (GRCm39) |
L138P |
probably damaging |
Het |
| Stat1 |
A |
G |
1: 52,165,780 (GRCm39) |
|
probably null |
Het |
| Tnks2 |
G |
T |
19: 36,829,936 (GRCm39) |
A206S |
probably damaging |
Het |
| Trav7-1 |
C |
A |
14: 52,892,521 (GRCm39) |
Q25K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,728,670 (GRCm39) |
M5470T |
unknown |
Het |
| Vps35 |
A |
T |
8: 86,001,596 (GRCm39) |
D407E |
probably benign |
Het |
| Wdr90 |
T |
C |
17: 26,079,676 (GRCm39) |
D190G |
probably benign |
Het |
| Wdr93 |
T |
A |
7: 79,423,103 (GRCm39) |
F456I |
possibly damaging |
Het |
| Wdr95 |
A |
G |
5: 149,529,758 (GRCm39) |
E675G |
probably benign |
Het |
|
| Other mutations in Or8g21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01522:Or8g21
|
APN |
9 |
38,906,396 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01671:Or8g21
|
APN |
9 |
38,906,149 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02331:Or8g21
|
APN |
9 |
38,906,402 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03069:Or8g21
|
APN |
9 |
38,906,728 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
IGL03143:Or8g21
|
APN |
9 |
38,906,732 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0149:Or8g21
|
UTSW |
9 |
38,905,880 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0400:Or8g21
|
UTSW |
9 |
38,906,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Or8g21
|
UTSW |
9 |
38,905,902 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2092:Or8g21
|
UTSW |
9 |
38,906,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Or8g21
|
UTSW |
9 |
38,906,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2166:Or8g21
|
UTSW |
9 |
38,906,513 (GRCm39) |
nonsense |
probably null |
|
|
R2347:Or8g21
|
UTSW |
9 |
38,905,805 (GRCm39) |
makesense |
probably null |
|
|
R4404:Or8g21
|
UTSW |
9 |
38,905,865 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4406:Or8g21
|
UTSW |
9 |
38,905,865 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5152:Or8g21
|
UTSW |
9 |
38,906,473 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5467:Or8g21
|
UTSW |
9 |
38,906,200 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5509:Or8g21
|
UTSW |
9 |
38,905,924 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5954:Or8g21
|
UTSW |
9 |
38,906,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6647:Or8g21
|
UTSW |
9 |
38,906,210 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6680:Or8g21
|
UTSW |
9 |
38,905,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6928:Or8g21
|
UTSW |
9 |
38,905,928 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7242:Or8g21
|
UTSW |
9 |
38,906,437 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7271:Or8g21
|
UTSW |
9 |
38,905,953 (GRCm39) |
nonsense |
probably null |
|
|
R7775:Or8g21
|
UTSW |
9 |
38,906,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7778:Or8g21
|
UTSW |
9 |
38,906,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7866:Or8g21
|
UTSW |
9 |
38,906,027 (GRCm39) |
missense |
not run |
|
|
R8280:Or8g21
|
UTSW |
9 |
38,906,075 (GRCm39) |
missense |
probably benign |
|
|
R8334:Or8g21
|
UTSW |
9 |
38,905,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8841:Or8g21
|
UTSW |
9 |
38,905,879 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9161:Or8g21
|
UTSW |
9 |
38,905,816 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9169:Or8g21
|
UTSW |
9 |
38,906,573 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9659:Or8g21
|
UTSW |
9 |
38,906,296 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9739:Or8g21
|
UTSW |
9 |
38,906,302 (GRCm39) |
nonsense |
probably null |
|
|
R9788:Or8g21
|
UTSW |
9 |
38,906,296 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAACATAGCGATCATATGCC -3'
(R):5'- TCCTTTCAGAATCTGACCAGAGAG -3'
Sequencing Primer
(F):5'- GCAGCCAGCATGTAACATTCTG -3'
(R):5'- TTTCAGAATCTGACCAGAGAGCATGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation