Incidental Mutation 'R3706:Or10q1'
| ID |
271791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10q1
|
| Ensembl Gene |
ENSMUSG00000050865 |
| Gene Name |
olfactory receptor family 10 subfamily Q member 1 |
| Synonyms |
MOR266-1, Olfr1494, GA_x6K02T2RE5P-4082427-4083374 |
| MMRRC Submission |
040699-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R3706 (G1)
|
| Quality Score |
130 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
13726472-13727419 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13726476 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 2
(L2Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146563
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051768]
[ENSMUST00000207836]
|
| AlphaFold |
Q8VGP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051768
AA Change: L2Q
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000056291
Gene: ENSMUSG00000050865
AA Change: L2Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
27 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
35 |
313 |
3.2e-53 |
PFAM |
|
Pfam:7tm_1
|
45 |
295 |
7.5e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207836
AA Change: L2Q
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214697
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
G |
A |
12: 112,740,085 (GRCm39) |
P523L |
possibly damaging |
Het |
| Ampd1 |
A |
G |
3: 102,995,627 (GRCm39) |
|
probably benign |
Het |
| Anxa10 |
T |
A |
8: 62,517,321 (GRCm39) |
K167M |
probably damaging |
Het |
| Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,923,931 (GRCm39) |
|
probably null |
Het |
| Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
| Cd4 |
T |
C |
6: 124,856,351 (GRCm39) |
K47E |
probably benign |
Het |
| Cenpl |
G |
A |
1: 160,905,985 (GRCm39) |
V120M |
probably damaging |
Het |
| Cfap69 |
G |
T |
5: 5,663,843 (GRCm39) |
Y461* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,289,300 (GRCm39) |
S2917P |
unknown |
Het |
| Crct1 |
C |
A |
3: 92,922,014 (GRCm39) |
|
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,675 (GRCm39) |
V592E |
probably damaging |
Het |
| Dmc1 |
G |
C |
15: 79,446,782 (GRCm39) |
P264A |
probably damaging |
Het |
| Donson |
A |
G |
16: 91,483,049 (GRCm39) |
|
probably benign |
Het |
| Elovl5 |
C |
A |
9: 77,887,119 (GRCm39) |
A170E |
probably null |
Het |
| Emilin1 |
A |
G |
5: 31,075,166 (GRCm39) |
E469G |
possibly damaging |
Het |
| Fam178b |
A |
G |
1: 36,647,529 (GRCm39) |
Y235H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,800,161 (GRCm39) |
T358A |
probably benign |
Het |
| Fpgs |
A |
T |
2: 32,578,008 (GRCm39) |
I138N |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,682,316 (GRCm39) |
|
probably benign |
Het |
| Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
| Immt |
T |
C |
6: 71,839,346 (GRCm39) |
M226T |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,148 (GRCm39) |
N875S |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,014,992 (GRCm39) |
D1572G |
probably damaging |
Het |
| Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
| Mctp2 |
A |
G |
7: 71,863,859 (GRCm39) |
|
probably benign |
Het |
| Mettl2 |
T |
A |
11: 105,030,552 (GRCm39) |
I376N |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,393,850 (GRCm39) |
S2904T |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,744 (GRCm39) |
T377A |
possibly damaging |
Het |
| Or5b12b |
C |
T |
19: 12,861,260 (GRCm39) |
T5I |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Phip |
T |
C |
9: 82,782,796 (GRCm39) |
E883G |
probably benign |
Het |
| Phox2b |
T |
C |
5: 67,253,872 (GRCm39) |
|
probably benign |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Rab11b |
G |
C |
17: 33,966,740 (GRCm39) |
H162D |
probably benign |
Het |
| Reln |
T |
C |
5: 22,200,587 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,381,179 (GRCm39) |
E551G |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,828,492 (GRCm39) |
K336R |
probably damaging |
Het |
| Zfx |
A |
G |
X: 93,142,413 (GRCm39) |
V36A |
possibly damaging |
Het |
| Zim1 |
T |
C |
7: 6,680,290 (GRCm39) |
I458V |
probably damaging |
Het |
|
| Other mutations in Or10q1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02134:Or10q1
|
APN |
19 |
13,727,165 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02335:Or10q1
|
APN |
19 |
13,727,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02388:Or10q1
|
APN |
19 |
13,726,994 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL03231:Or10q1
|
APN |
19 |
13,726,749 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0133:Or10q1
|
UTSW |
19 |
13,727,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0142:Or10q1
|
UTSW |
19 |
13,726,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0561:Or10q1
|
UTSW |
19 |
13,726,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0783:Or10q1
|
UTSW |
19 |
13,727,040 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1826:Or10q1
|
UTSW |
19 |
13,726,711 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1967:Or10q1
|
UTSW |
19 |
13,727,417 (GRCm39) |
makesense |
probably null |
|
|
R5417:Or10q1
|
UTSW |
19 |
13,727,217 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6508:Or10q1
|
UTSW |
19 |
13,726,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7126:Or10q1
|
UTSW |
19 |
13,726,887 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7262:Or10q1
|
UTSW |
19 |
13,726,535 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7395:Or10q1
|
UTSW |
19 |
13,726,502 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7740:Or10q1
|
UTSW |
19 |
13,727,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7744:Or10q1
|
UTSW |
19 |
13,727,419 (GRCm39) |
makesense |
probably null |
|
|
R7864:Or10q1
|
UTSW |
19 |
13,726,710 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8495:Or10q1
|
UTSW |
19 |
13,726,593 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9372:Or10q1
|
UTSW |
19 |
13,727,069 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTGTAGACAAACATCTCCATTAC -3'
(R):5'- TTTCCAAGACAGACAGACTACTGAGG -3'
Sequencing Primer
(F):5'- GTCAGATTCAGTCTCCCT -3'
(R):5'- ATACATAGGTGTGTGCAGGGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation