Incidental Mutation 'R5409:Or5ac16'
ID |
426470 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or5ac16
|
Ensembl Gene |
ENSMUSG00000052537 |
Gene Name |
olfactory receptor family 5 subfamily AC member 16 |
Synonyms |
MOR182-8, GA_x54KRFPKG5P-55416332-55415412, Olfr198 |
MMRRC Submission |
042978-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R5409 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
59021867-59022787 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59021920 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 290
(Y290H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146813
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064452]
[ENSMUST00000208244]
|
AlphaFold |
Q7TS40 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064452
AA Change: Y290H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065535 Gene: ENSMUSG00000052537 AA Change: Y290H
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
306 |
4.9e-45 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
4.2e-19 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000208244
AA Change: Y290H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
C |
10: 79,850,154 (GRCm39) |
L2002P |
probably damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Adgrl1 |
A |
G |
8: 84,656,371 (GRCm39) |
T230A |
probably damaging |
Het |
Anapc4 |
A |
G |
5: 53,005,941 (GRCm39) |
E316G |
probably damaging |
Het |
Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
Aurka |
T |
G |
2: 172,209,036 (GRCm39) |
Q33P |
possibly damaging |
Het |
Ccn5 |
G |
A |
2: 163,667,158 (GRCm39) |
C53Y |
probably damaging |
Het |
Cenpm |
T |
C |
15: 82,118,564 (GRCm39) |
T153A |
probably benign |
Het |
Clca4b |
T |
A |
3: 144,622,452 (GRCm39) |
K538* |
probably null |
Het |
Clip2 |
G |
A |
5: 134,551,645 (GRCm39) |
T159M |
possibly damaging |
Het |
Col5a1 |
C |
T |
2: 27,850,457 (GRCm39) |
T518I |
unknown |
Het |
Dis3 |
A |
T |
14: 99,323,368 (GRCm39) |
M566K |
possibly damaging |
Het |
Dnah1 |
C |
T |
14: 30,985,212 (GRCm39) |
R3869H |
probably damaging |
Het |
Gm4775 |
A |
T |
14: 106,338,386 (GRCm39) |
|
noncoding transcript |
Het |
Hipk2 |
C |
T |
6: 38,706,977 (GRCm39) |
G637D |
probably damaging |
Het |
Igkv4-61 |
T |
C |
6: 69,394,111 (GRCm39) |
K18E |
possibly damaging |
Het |
Kcnk4 |
A |
G |
19: 6,903,578 (GRCm39) |
S324P |
probably benign |
Het |
Larp4 |
T |
C |
15: 99,883,945 (GRCm39) |
C61R |
probably damaging |
Het |
Nid2 |
T |
C |
14: 19,856,030 (GRCm39) |
F986L |
probably damaging |
Het |
Or5aq1b |
T |
C |
2: 86,902,214 (GRCm39) |
E88G |
possibly damaging |
Het |
Or5h22 |
C |
T |
16: 58,894,559 (GRCm39) |
V295I |
possibly damaging |
Het |
Pgbd5 |
T |
A |
8: 125,098,619 (GRCm39) |
I359F |
probably damaging |
Het |
Plekhh2 |
T |
C |
17: 84,893,906 (GRCm39) |
|
probably null |
Het |
Pomgnt2 |
A |
T |
9: 121,811,303 (GRCm39) |
S493T |
possibly damaging |
Het |
Rnf7l |
A |
T |
10: 63,257,403 (GRCm39) |
M39K |
possibly damaging |
Het |
Rp1l1 |
T |
C |
14: 64,268,070 (GRCm39) |
S1219P |
probably benign |
Het |
Rprd1b |
T |
A |
2: 157,916,987 (GRCm39) |
F322L |
probably damaging |
Het |
Sh3rf1 |
G |
A |
8: 61,827,279 (GRCm39) |
V678M |
probably benign |
Het |
Smpd5 |
C |
A |
15: 76,179,914 (GRCm39) |
T321K |
probably damaging |
Het |
Spag8 |
T |
A |
4: 43,653,134 (GRCm39) |
|
probably benign |
Het |
Tanc2 |
T |
C |
11: 105,758,311 (GRCm39) |
C691R |
possibly damaging |
Het |
Tnc |
A |
C |
4: 63,884,773 (GRCm39) |
M1834R |
probably damaging |
Het |
Tnc |
A |
T |
4: 63,925,654 (GRCm39) |
Y961N |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,700,893 (GRCm39) |
|
probably benign |
Het |
Ufl1 |
A |
G |
4: 25,280,706 (GRCm39) |
V47A |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,485,672 (GRCm39) |
D1676V |
possibly damaging |
Het |
Vmn1r65 |
T |
C |
7: 6,012,012 (GRCm39) |
N74S |
possibly damaging |
Het |
Vmn2r30 |
A |
G |
7: 7,315,547 (GRCm39) |
F762S |
probably damaging |
Het |
|
Other mutations in Or5ac16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01395:Or5ac16
|
APN |
16 |
59,022,460 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03053:Or5ac16
|
APN |
16 |
59,022,610 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03168:Or5ac16
|
APN |
16 |
59,022,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R1355:Or5ac16
|
UTSW |
16 |
59,022,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R1370:Or5ac16
|
UTSW |
16 |
59,022,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R1510:Or5ac16
|
UTSW |
16 |
59,022,546 (GRCm39) |
missense |
probably damaging |
0.99 |
R1777:Or5ac16
|
UTSW |
16 |
59,022,379 (GRCm39) |
missense |
probably benign |
0.35 |
R1962:Or5ac16
|
UTSW |
16 |
59,022,271 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1964:Or5ac16
|
UTSW |
16 |
59,022,271 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5642:Or5ac16
|
UTSW |
16 |
59,022,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R5704:Or5ac16
|
UTSW |
16 |
59,022,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R6323:Or5ac16
|
UTSW |
16 |
59,022,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R6829:Or5ac16
|
UTSW |
16 |
59,021,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R7315:Or5ac16
|
UTSW |
16 |
59,022,496 (GRCm39) |
missense |
probably benign |
0.00 |
R7738:Or5ac16
|
UTSW |
16 |
59,022,318 (GRCm39) |
missense |
probably benign |
0.00 |
R8540:Or5ac16
|
UTSW |
16 |
59,022,323 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8815:Or5ac16
|
UTSW |
16 |
59,022,264 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8844:Or5ac16
|
UTSW |
16 |
59,021,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATGACGAGATGCTCACTGC -3'
(R):5'- CCTTCTTGCCATCCTGAAAACAAAG -3'
Sequencing Primer
(F):5'- GAGATGCTCACTGCCTTCAACAG -3'
(R):5'- TTGCCATCCTGAAAACAAAGTCTGAG -3'
|
Posted On |
2016-09-01 |