Incidental Mutation 'R6444:Or8g20'
| ID |
519134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8g20
|
| Ensembl Gene |
ENSMUSG00000062649 |
| Gene Name |
olfactory receptor family 8 subfamily G member 20 |
| Synonyms |
GA_x6K02T2PVTD-33181773-33180838, Olfr44, IB3, MOR171-5 |
| MMRRC Submission |
044582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
39395500-39405284 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39395614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 309
(T309A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077757]
[ENSMUST00000215065]
[ENSMUST00000216316]
|
| AlphaFold |
Q9EQB8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077757
AA Change: T312A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000076935
Gene: ENSMUSG00000062649
AA Change: T312A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
4.1e-50 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
1.7e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215065
AA Change: T309A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216316
AA Change: T309A
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACAGAGCAGTGCCTACCAG |
ACAG |
5: 138,637,831 (GRCm39) |
|
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,079,362 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,317,956 (GRCm39) |
I233N |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,150,785 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,335,260 (GRCm39) |
D246G |
probably benign |
Het |
| Cped1 |
A |
C |
6: 21,986,930 (GRCm39) |
I41L |
probably benign |
Het |
| Dcdc2c |
A |
G |
12: 28,585,475 (GRCm39) |
V174A |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,420,844 (GRCm39) |
R1681C |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,167,822 (GRCm39) |
V1755M |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,075,292 (GRCm39) |
D590N |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,338,077 (GRCm39) |
M1V |
probably null |
Het |
| Galnt15 |
T |
C |
14: 31,762,368 (GRCm39) |
F199L |
probably damaging |
Het |
| Gm8229 |
A |
T |
14: 44,602,928 (GRCm39) |
H38L |
unknown |
Het |
| Magel2 |
T |
C |
7: 62,029,747 (GRCm39) |
Y884H |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,989,468 (GRCm39) |
V473E |
probably damaging |
Het |
| Mrgprx1 |
C |
T |
7: 47,671,562 (GRCm39) |
V62I |
possibly damaging |
Het |
| Mybl1 |
G |
A |
1: 9,755,917 (GRCm39) |
P211S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,786,134 (GRCm39) |
H254R |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,453,017 (GRCm39) |
T6A |
possibly damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or5b119 |
A |
T |
19: 13,456,794 (GRCm39) |
M256K |
possibly damaging |
Het |
| Psmd12 |
A |
G |
11: 107,377,280 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,195,730 (GRCm39) |
D879G |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,785,166 (GRCm39) |
Q414R |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,197,317 (GRCm39) |
I813T |
probably damaging |
Het |
| Smok2a |
G |
T |
17: 13,444,500 (GRCm39) |
A26S |
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,110,550 (GRCm39) |
L459Q |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,142 (GRCm39) |
V609A |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,365 (GRCm39) |
A42E |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,470 (GRCm39) |
V682A |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,488 (GRCm39) |
K321E |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,133,891 (GRCm39) |
M1098R |
possibly damaging |
Het |
| Ydjc |
C |
A |
16: 16,965,545 (GRCm39) |
H136Q |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,716,682 (GRCm39) |
H193L |
probably benign |
Het |
| Znhit1 |
A |
G |
5: 137,011,254 (GRCm39) |
V153A |
probably benign |
Het |
|
| Other mutations in Or8g20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Or8g20
|
APN |
9 |
39,395,944 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02239:Or8g20
|
APN |
9 |
39,395,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02305:Or8g20
|
APN |
9 |
39,396,333 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02353:Or8g20
|
APN |
9 |
39,396,444 (GRCm39) |
missense |
probably benign |
|
|
IGL02360:Or8g20
|
APN |
9 |
39,396,444 (GRCm39) |
missense |
probably benign |
|
|
R0212:Or8g20
|
UTSW |
9 |
39,396,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Or8g20
|
UTSW |
9 |
39,396,284 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1329:Or8g20
|
UTSW |
9 |
39,395,740 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1348:Or8g20
|
UTSW |
9 |
39,396,532 (GRCm39) |
missense |
probably benign |
|
|
R1594:Or8g20
|
UTSW |
9 |
39,396,042 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5017:Or8g20
|
UTSW |
9 |
39,396,051 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5141:Or8g20
|
UTSW |
9 |
39,395,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5244:Or8g20
|
UTSW |
9 |
39,395,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5524:Or8g20
|
UTSW |
9 |
39,396,283 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5630:Or8g20
|
UTSW |
9 |
39,396,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5860:Or8g20
|
UTSW |
9 |
39,395,767 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6649:Or8g20
|
UTSW |
9 |
39,396,048 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6653:Or8g20
|
UTSW |
9 |
39,396,048 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7115:Or8g20
|
UTSW |
9 |
39,395,944 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7595:Or8g20
|
UTSW |
9 |
39,395,611 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7791:Or8g20
|
UTSW |
9 |
39,396,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Or8g20
|
UTSW |
9 |
39,396,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Or8g20
|
UTSW |
9 |
39,396,247 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9640:Or8g20
|
UTSW |
9 |
39,396,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATTGTTGACTCTGTGAAAC -3'
(R):5'- ACTTGCAGTTCTCACATCTTGG -3'
Sequencing Primer
(F):5'- TGTTGACTCTGTGAAACAATATGG -3'
(R):5'- GCAGTTCTCACATCTTGGCTGTTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation