Incidental Mutation 'IGL02618:Or5ac19'
| ID |
300723 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5ac19
|
| Ensembl Gene |
ENSMUSG00000074995 |
| Gene Name |
olfactory receptor family 5 subfamily AC member 19 |
| Synonyms |
Olfr201, MOR182-2, GA_x54KRFPKG5P-55483936-55483010 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
IGL02618
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
59089102-59090028 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59089290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 247
(S247T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099656]
[ENSMUST00000216834]
|
| AlphaFold |
Q7TS38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099656
AA Change: S247T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097248
Gene: ENSMUSG00000074995
AA Change: S247T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.2e-46 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
8e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216834
AA Change: S247T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
A |
12: 55,104,086 (GRCm39) |
Q178* |
probably null |
Het |
| Adgre1 |
T |
A |
17: 57,751,021 (GRCm39) |
V565E |
possibly damaging |
Het |
| Arfgef2 |
C |
A |
2: 166,695,233 (GRCm39) |
N535K |
probably damaging |
Het |
| Bbx |
A |
G |
16: 50,068,161 (GRCm39) |
L161S |
probably damaging |
Het |
| Bclaf1 |
T |
C |
10: 20,199,274 (GRCm39) |
S224P |
probably damaging |
Het |
| Car2 |
A |
G |
3: 14,963,032 (GRCm39) |
D189G |
probably benign |
Het |
| Catsperb |
A |
T |
12: 101,446,983 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
C |
T |
12: 100,879,812 (GRCm39) |
V1770I |
probably benign |
Het |
| Cebpe |
T |
C |
14: 54,948,234 (GRCm39) |
D203G |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,197,422 (GRCm39) |
N104S |
probably damaging |
Het |
| Clec2i |
G |
A |
6: 128,873,464 (GRCm39) |
C231Y |
probably damaging |
Het |
| Col4a5 |
C |
T |
X: 140,466,678 (GRCm39) |
P1557S |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,813,543 (GRCm39) |
N498S |
probably benign |
Het |
| Ctnnal1 |
A |
T |
4: 56,817,060 (GRCm39) |
D587E |
probably benign |
Het |
| Dnmt3l |
T |
C |
10: 77,889,856 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,971,265 (GRCm39) |
V100A |
probably benign |
Het |
| Frk |
C |
T |
10: 34,459,960 (GRCm39) |
T185I |
possibly damaging |
Het |
| Frmd4b |
G |
A |
6: 97,285,066 (GRCm39) |
Q340* |
probably null |
Het |
| Lima1 |
C |
A |
15: 99,700,097 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
A |
G |
2: 156,882,486 (GRCm39) |
L522P |
probably damaging |
Het |
| Ndrg1 |
G |
A |
15: 66,812,086 (GRCm39) |
H202Y |
probably benign |
Het |
| Nxpe2 |
T |
G |
9: 48,237,634 (GRCm39) |
N207T |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,186,068 (GRCm39) |
|
probably benign |
Het |
| Pinx1 |
A |
G |
14: 64,105,969 (GRCm39) |
D75G |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,823,130 (GRCm39) |
D370E |
probably benign |
Het |
| Polb |
A |
T |
8: 23,127,109 (GRCm39) |
L228Q |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,983,938 (GRCm39) |
I521N |
possibly damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,627,955 (GRCm39) |
D1045G |
probably damaging |
Het |
| Rbks |
A |
T |
5: 31,781,863 (GRCm39) |
Y312* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Src |
A |
T |
2: 157,306,698 (GRCm39) |
K234* |
probably null |
Het |
| Stk36 |
C |
A |
1: 74,670,834 (GRCm39) |
|
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,038,388 (GRCm39) |
C412F |
probably benign |
Het |
| Zfp58 |
A |
G |
13: 67,639,475 (GRCm39) |
F339L |
possibly damaging |
Het |
|
| Other mutations in Or5ac19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01734:Or5ac19
|
APN |
16 |
59,089,213 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01985:Or5ac19
|
APN |
16 |
59,089,442 (GRCm39) |
missense |
probably benign |
|
|
IGL02830:Or5ac19
|
APN |
16 |
59,089,416 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4449001:Or5ac19
|
UTSW |
16 |
59,089,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Or5ac19
|
UTSW |
16 |
59,089,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Or5ac19
|
UTSW |
16 |
59,089,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1035:Or5ac19
|
UTSW |
16 |
59,089,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1037:Or5ac19
|
UTSW |
16 |
59,089,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Or5ac19
|
UTSW |
16 |
59,089,518 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1225:Or5ac19
|
UTSW |
16 |
59,089,587 (GRCm39) |
missense |
probably benign |
|
|
R1519:Or5ac19
|
UTSW |
16 |
59,089,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1583:Or5ac19
|
UTSW |
16 |
59,089,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2075:Or5ac19
|
UTSW |
16 |
59,089,274 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4591:Or5ac19
|
UTSW |
16 |
59,089,776 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5547:Or5ac19
|
UTSW |
16 |
59,089,479 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6132:Or5ac19
|
UTSW |
16 |
59,089,367 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6737:Or5ac19
|
UTSW |
16 |
59,089,175 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6872:Or5ac19
|
UTSW |
16 |
59,089,961 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8001:Or5ac19
|
UTSW |
16 |
59,089,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8525:Or5ac19
|
UTSW |
16 |
59,089,571 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9003:Or5ac19
|
UTSW |
16 |
59,089,263 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9260:Or5ac19
|
UTSW |
16 |
59,089,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9584:Or5ac19
|
UTSW |
16 |
59,089,580 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Posted On |
2015-04-16 |
Incidental Mutation