Incidental Mutation 'R1028:Or9i16'
ID |
95088 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or9i16
|
Ensembl Gene |
ENSMUSG00000059105 |
Gene Name |
olfactory receptor family 9 subfamily I member 16 |
Synonyms |
GA_x6K02T2RE5P-4223635-4222688, Olfr1504, MOR212-2 |
MMRRC Submission |
039130-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R1028 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
13864625-13865572 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 13865159 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 138
(Q138H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146610
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078282]
[ENSMUST00000209192]
|
AlphaFold |
Q8VFQ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078282
AA Change: Q138H
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000077400 Gene: ENSMUSG00000059105 AA Change: Q138H
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
30 |
307 |
4.3e-46 |
PFAM |
Pfam:7tm_1
|
40 |
313 |
1.5e-19 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209192
AA Change: Q138H
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.1%
- 10x: 91.8%
- 20x: 78.7%
|
Validation Efficiency |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak7 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
12: 105,676,448 (GRCm39) |
|
probably benign |
Het |
Ano8 |
GCCTCCTCCTCCTCCTC |
GCCTCCTCCTCCTC |
8: 71,933,615 (GRCm39) |
|
probably benign |
Het |
B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
Bpifb9a |
G |
C |
2: 154,104,327 (GRCm39) |
E257Q |
possibly damaging |
Het |
Cdh19 |
T |
C |
1: 110,882,314 (GRCm39) |
I59M |
probably benign |
Het |
Cmah |
A |
G |
13: 24,619,645 (GRCm39) |
D171G |
probably damaging |
Het |
Colec12 |
T |
C |
18: 9,866,837 (GRCm39) |
S683P |
unknown |
Het |
Dixdc1 |
C |
T |
9: 50,614,546 (GRCm39) |
A168T |
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,871,425 (GRCm39) |
D461G |
probably benign |
Het |
Entpd3 |
A |
G |
9: 120,387,427 (GRCm39) |
H208R |
probably benign |
Het |
Fuz |
T |
C |
7: 44,546,350 (GRCm39) |
I39T |
probably damaging |
Het |
Gprin3 |
T |
C |
6: 59,331,594 (GRCm39) |
N238D |
possibly damaging |
Het |
Itpr3 |
G |
T |
17: 27,310,343 (GRCm39) |
A403S |
probably benign |
Het |
Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
Mtor |
G |
C |
4: 148,623,287 (GRCm39) |
G2046R |
possibly damaging |
Het |
Myh13 |
T |
C |
11: 67,247,007 (GRCm39) |
S1243P |
possibly damaging |
Het |
Net1 |
A |
T |
13: 3,934,375 (GRCm39) |
C441S |
probably damaging |
Het |
Nlrp4e |
T |
C |
7: 23,021,169 (GRCm39) |
F552S |
probably damaging |
Het |
Or2y15 |
G |
A |
11: 49,351,047 (GRCm39) |
M180I |
probably benign |
Het |
Or4k47 |
A |
T |
2: 111,451,870 (GRCm39) |
L183Q |
probably damaging |
Het |
Ovch2 |
T |
C |
7: 107,395,755 (GRCm39) |
I88V |
probably benign |
Het |
Phf1 |
A |
G |
17: 27,153,307 (GRCm39) |
T42A |
possibly damaging |
Het |
Pkhd1 |
A |
G |
1: 20,187,950 (GRCm39) |
Y3453H |
probably damaging |
Het |
Rabgef1 |
T |
G |
5: 130,241,703 (GRCm39) |
L369* |
probably null |
Het |
Rufy1 |
A |
T |
11: 50,305,425 (GRCm39) |
|
probably null |
Het |
Sec16b |
T |
C |
1: 157,388,487 (GRCm39) |
V618A |
probably benign |
Het |
Sh3rf1 |
A |
G |
8: 61,846,821 (GRCm39) |
R876G |
possibly damaging |
Het |
Slc26a8 |
A |
G |
17: 28,891,772 (GRCm39) |
Y126H |
probably damaging |
Het |
Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
Zp1 |
G |
A |
19: 10,896,275 (GRCm39) |
T150I |
probably benign |
Het |
|
Other mutations in Or9i16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00332:Or9i16
|
APN |
19 |
13,864,945 (GRCm39) |
missense |
probably benign |
|
IGL00885:Or9i16
|
APN |
19 |
13,865,532 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01084:Or9i16
|
APN |
19 |
13,864,866 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01522:Or9i16
|
APN |
19 |
13,864,722 (GRCm39) |
nonsense |
probably null |
|
IGL01727:Or9i16
|
APN |
19 |
13,865,242 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02440:Or9i16
|
APN |
19 |
13,865,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03342:Or9i16
|
APN |
19 |
13,864,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R0531:Or9i16
|
UTSW |
19 |
13,865,116 (GRCm39) |
missense |
possibly damaging |
0.62 |
R0577:Or9i16
|
UTSW |
19 |
13,865,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R1674:Or9i16
|
UTSW |
19 |
13,864,954 (GRCm39) |
missense |
probably benign |
0.01 |
R3906:Or9i16
|
UTSW |
19 |
13,865,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R4598:Or9i16
|
UTSW |
19 |
13,865,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R4658:Or9i16
|
UTSW |
19 |
13,864,912 (GRCm39) |
missense |
probably benign |
0.19 |
R4676:Or9i16
|
UTSW |
19 |
13,864,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R5919:Or9i16
|
UTSW |
19 |
13,865,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R5943:Or9i16
|
UTSW |
19 |
13,865,116 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8112:Or9i16
|
UTSW |
19 |
13,864,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R9616:Or9i16
|
UTSW |
19 |
13,864,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGGTCTCACTACAGGCAAGCTTC -3'
(R):5'- TAATTCAGAGTGACCCTCGGCTCC -3'
Sequencing Primer
(F):5'- TACAGGCAAGCTTCATCAGG -3'
(R):5'- CATCTGTTATTGTGCCACAGC -3'
|
Posted On |
2014-01-05 |