Incidental Mutation 'R6136:Or8u10'
| ID |
488334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8u10
|
| Ensembl Gene |
ENSMUSG00000075205 |
| Gene Name |
olfactory receptor family 8 subfamily U member 10 |
| Synonyms |
MOR171-52, GA_x6K02T2Q125-47560740-47559775, Olfr1037, MOR256-34P |
| MMRRC Submission |
044283-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6136 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
85915074-85916198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85915245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 292
(L292S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099911]
[ENSMUST00000213333]
[ENSMUST00000216020]
[ENSMUST00000216886]
|
| AlphaFold |
Q7TR84 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099911
AA Change: L292S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097495
Gene: ENSMUSG00000075205
AA Change: L292S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.8e-54 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.2e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213333
AA Change: L292S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216020
AA Change: L292S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216886
AA Change: L292S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
98% (52/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
C |
A |
4: 124,504,181 (GRCm39) |
G124C |
unknown |
Het |
| 3425401B19Rik |
A |
T |
14: 32,384,239 (GRCm39) |
D575E |
possibly damaging |
Het |
| Abca15 |
A |
T |
7: 119,939,272 (GRCm39) |
H222L |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,504,507 (GRCm39) |
V1013A |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,158,424 (GRCm39) |
M1T |
probably null |
Het |
| Atp10a |
A |
C |
7: 58,478,088 (GRCm39) |
Q1377P |
probably benign |
Het |
| Atrip |
T |
A |
9: 108,900,804 (GRCm39) |
E178D |
probably damaging |
Het |
| Cblif |
G |
A |
19: 11,727,649 (GRCm39) |
A158T |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,577,755 (GRCm39) |
N625D |
probably benign |
Het |
| Chrng |
G |
A |
1: 87,137,523 (GRCm39) |
V320I |
probably benign |
Het |
| Cox11 |
T |
C |
11: 90,535,221 (GRCm39) |
L84P |
probably damaging |
Het |
| Dchs1 |
T |
G |
7: 105,410,132 (GRCm39) |
T1747P |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,597,227 (GRCm39) |
K3529E |
probably damaging |
Het |
| Ecd |
T |
C |
14: 20,370,859 (GRCm39) |
N620S |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,245,052 (GRCm39) |
K278N |
possibly damaging |
Het |
| Fcho2 |
T |
C |
13: 98,926,275 (GRCm39) |
K103E |
probably damaging |
Het |
| Fzd7 |
T |
G |
1: 59,522,419 (GRCm39) |
F101V |
probably damaging |
Het |
| Galnt13 |
G |
T |
2: 54,406,491 (GRCm39) |
|
probably benign |
Het |
| Gm32647 |
C |
T |
7: 94,124,939 (GRCm39) |
|
|
Het |
| Gm5624 |
A |
T |
14: 44,797,333 (GRCm39) |
D152E |
probably benign |
Het |
| Heatr6 |
T |
A |
11: 83,663,329 (GRCm39) |
V664E |
possibly damaging |
Het |
| Hpgd |
A |
G |
8: 56,747,987 (GRCm39) |
D36G |
probably damaging |
Het |
| Ifnlr1 |
A |
G |
4: 135,431,108 (GRCm39) |
T199A |
possibly damaging |
Het |
| Kalrn |
T |
G |
16: 34,177,481 (GRCm39) |
D228A |
probably damaging |
Het |
| Miox |
T |
C |
15: 89,219,524 (GRCm39) |
M47T |
probably damaging |
Het |
| Nampt |
A |
T |
12: 32,880,301 (GRCm39) |
I65F |
probably benign |
Het |
| Ncf1 |
T |
C |
5: 134,255,487 (GRCm39) |
K135E |
probably damaging |
Het |
| Nop53 |
G |
A |
7: 15,672,314 (GRCm39) |
Q452* |
probably null |
Het |
| Pik3cg |
A |
G |
12: 32,254,358 (GRCm39) |
V543A |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,440,577 (GRCm39) |
|
probably null |
Het |
| Rap1a |
A |
G |
3: 105,657,598 (GRCm39) |
V7A |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,813,543 (GRCm39) |
V639A |
possibly damaging |
Het |
| Rassf8 |
A |
G |
6: 145,761,382 (GRCm39) |
N236S |
probably benign |
Het |
| Rbm47 |
G |
C |
5: 66,183,626 (GRCm39) |
R326G |
probably damaging |
Het |
| Sbno1 |
T |
C |
5: 124,516,554 (GRCm39) |
D1272G |
probably benign |
Het |
| Setx |
A |
G |
2: 29,038,039 (GRCm39) |
D1508G |
probably benign |
Het |
| Slc1a1 |
T |
A |
19: 28,882,810 (GRCm39) |
L358Q |
probably damaging |
Het |
| Slc7a12 |
C |
A |
3: 14,564,186 (GRCm39) |
L20I |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,972,853 (GRCm39) |
S729P |
probably damaging |
Het |
| Spats2l |
C |
T |
1: 57,941,302 (GRCm39) |
T187M |
probably damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,494 (GRCm39) |
D647G |
probably benign |
Het |
| Steap4 |
G |
A |
5: 8,028,562 (GRCm39) |
R380Q |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,952,099 (GRCm39) |
S456G |
probably benign |
Het |
| Tfcp2 |
G |
T |
15: 100,410,194 (GRCm39) |
T391N |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,015,465 (GRCm39) |
D122E |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,505,008 (GRCm39) |
M649V |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,824,107 (GRCm39) |
T1440A |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,756,831 (GRCm39) |
D846G |
probably benign |
Het |
| Vmn1r202 |
T |
C |
13: 22,685,632 (GRCm39) |
T262A |
possibly damaging |
Het |
| Vmn2r61 |
G |
T |
7: 41,916,455 (GRCm39) |
W356L |
probably damaging |
Het |
| Wdr11 |
T |
A |
7: 129,220,427 (GRCm39) |
M605K |
possibly damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Or8u10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01390:Or8u10
|
APN |
2 |
85,915,984 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02534:Or8u10
|
APN |
2 |
85,915,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03204:Or8u10
|
APN |
2 |
85,916,015 (GRCm39) |
nonsense |
probably null |
|
|
R0054:Or8u10
|
UTSW |
2 |
85,915,705 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0054:Or8u10
|
UTSW |
2 |
85,915,705 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0131:Or8u10
|
UTSW |
2 |
85,915,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Or8u10
|
UTSW |
2 |
85,915,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0666:Or8u10
|
UTSW |
2 |
85,915,557 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0732:Or8u10
|
UTSW |
2 |
85,915,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1167:Or8u10
|
UTSW |
2 |
85,915,635 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1899:Or8u10
|
UTSW |
2 |
85,916,064 (GRCm39) |
missense |
probably benign |
|
|
R3082:Or8u10
|
UTSW |
2 |
85,916,053 (GRCm39) |
missense |
probably benign |
|
|
R3847:Or8u10
|
UTSW |
2 |
85,915,751 (GRCm39) |
nonsense |
probably null |
|
|
R3848:Or8u10
|
UTSW |
2 |
85,915,751 (GRCm39) |
nonsense |
probably null |
|
|
R4079:Or8u10
|
UTSW |
2 |
85,915,656 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4193:Or8u10
|
UTSW |
2 |
85,916,044 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4832:Or8u10
|
UTSW |
2 |
85,915,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5244:Or8u10
|
UTSW |
2 |
85,915,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Or8u10
|
UTSW |
2 |
85,915,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5644:Or8u10
|
UTSW |
2 |
85,915,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5974:Or8u10
|
UTSW |
2 |
85,915,225 (GRCm39) |
missense |
probably benign |
|
|
R6189:Or8u10
|
UTSW |
2 |
85,915,257 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6483:Or8u10
|
UTSW |
2 |
85,915,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6569:Or8u10
|
UTSW |
2 |
85,915,849 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6724:Or8u10
|
UTSW |
2 |
85,915,701 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6867:Or8u10
|
UTSW |
2 |
85,916,082 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7081:Or8u10
|
UTSW |
2 |
85,915,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7207:Or8u10
|
UTSW |
2 |
85,915,159 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7436:Or8u10
|
UTSW |
2 |
85,915,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8699:Or8u10
|
UTSW |
2 |
85,915,518 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9347:Or8u10
|
UTSW |
2 |
85,915,911 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9798:Or8u10
|
UTSW |
2 |
85,915,606 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0062:Or8u10
|
UTSW |
2 |
85,915,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or8u10
|
UTSW |
2 |
85,915,326 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGTCTTGCTAGAGAACGCTAG -3'
(R):5'- TGGCTGCTATCTTAAGAATCCAGTC -3'
Sequencing Primer
(F):5'- CGCTAGCATGCAAAACGTG -3'
(R):5'- TGCTATCTTAAGAATCCAGTCCACAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation