Incidental Mutation 'IGL01984:Or56a5'
| ID |
181823 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or56a5
|
| Ensembl Gene |
ENSMUSG00000044120 |
| Gene Name |
olfactory receptor family 56 subfamily A member 5 |
| Synonyms |
Olfr683, MOR40-1, GA_x6K02T2PBJ9-7773007-7772066 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
IGL01984
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104792557-104793516 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104792923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 192
(D192E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061284]
[ENSMUST00000209879]
|
| AlphaFold |
Q8VGV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061284
AA Change: D198E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000060527
Gene: ENSMUSG00000044120
AA Change: D198E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
40 |
318 |
8.5e-73 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
44 |
315 |
3.5e-8 |
PFAM |
|
Pfam:7tm_1
|
50 |
300 |
1.3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209879
AA Change: D192E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211388
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
C |
T |
3: 89,970,537 (GRCm39) |
L24F |
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,935,266 (GRCm39) |
D442G |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,811,487 (GRCm39) |
T634A |
probably damaging |
Het |
| Anxa3 |
A |
T |
5: 96,982,630 (GRCm39) |
|
probably benign |
Het |
| Ccnh |
T |
C |
13: 85,354,270 (GRCm39) |
L202P |
probably damaging |
Het |
| Clcn3 |
A |
T |
8: 61,382,614 (GRCm39) |
S325T |
probably damaging |
Het |
| Clec2d |
A |
T |
6: 129,161,192 (GRCm39) |
E96D |
possibly damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,824,369 (GRCm39) |
|
probably benign |
Het |
| Dcun1d5 |
T |
A |
9: 7,205,307 (GRCm39) |
Y189N |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,741,174 (GRCm39) |
|
probably null |
Het |
| Dpcd |
C |
T |
19: 45,565,469 (GRCm39) |
H148Y |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,629,134 (GRCm39) |
D937E |
probably benign |
Het |
| Erg |
T |
G |
16: 95,210,786 (GRCm39) |
D15A |
probably damaging |
Het |
| Gm21759 |
T |
A |
5: 8,230,547 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
C |
T |
17: 79,103,926 (GRCm39) |
R1083Q |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,299,533 (GRCm39) |
S1012P |
possibly damaging |
Het |
| Klhl3 |
C |
T |
13: 58,159,057 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,951,525 (GRCm39) |
|
probably null |
Het |
| Magi1 |
A |
T |
6: 93,685,155 (GRCm39) |
V740D |
probably damaging |
Het |
| Nme8 |
C |
A |
13: 19,873,150 (GRCm39) |
V165L |
probably damaging |
Het |
| Odf2l |
G |
T |
3: 144,845,590 (GRCm39) |
E5* |
probably null |
Het |
| Or14j4 |
T |
C |
17: 37,934,552 (GRCm39) |
|
probably benign |
Het |
| Or4k47 |
A |
G |
2: 111,451,927 (GRCm39) |
L164S |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,621,183 (GRCm39) |
V1001A |
probably benign |
Het |
| Plaa |
A |
G |
4: 94,459,922 (GRCm39) |
|
probably null |
Het |
| Prkdc |
G |
A |
16: 15,526,643 (GRCm39) |
A1305T |
probably benign |
Het |
| Rnps1 |
T |
C |
17: 24,643,371 (GRCm39) |
|
probably benign |
Het |
| St8sia5 |
T |
C |
18: 77,336,157 (GRCm39) |
F197L |
probably benign |
Het |
| Sult3a1 |
G |
T |
10: 33,755,205 (GRCm39) |
G257* |
probably null |
Het |
| Svep1 |
A |
C |
4: 58,068,877 (GRCm39) |
Y2970D |
possibly damaging |
Het |
| Tns3 |
G |
T |
11: 8,498,992 (GRCm39) |
Y30* |
probably null |
Het |
| Ubr1 |
G |
T |
2: 120,751,867 (GRCm39) |
P791T |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,688,392 (GRCm39) |
V1039A |
probably benign |
Het |
|
| Other mutations in Or56a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01814:Or56a5
|
APN |
7 |
104,792,811 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02456:Or56a5
|
APN |
7 |
104,792,966 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03242:Or56a5
|
APN |
7 |
104,793,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0234:Or56a5
|
UTSW |
7 |
104,793,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0234:Or56a5
|
UTSW |
7 |
104,793,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1282:Or56a5
|
UTSW |
7 |
104,792,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1485:Or56a5
|
UTSW |
7 |
104,792,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1653:Or56a5
|
UTSW |
7 |
104,793,077 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2130:Or56a5
|
UTSW |
7 |
104,792,757 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2355:Or56a5
|
UTSW |
7 |
104,793,020 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4491:Or56a5
|
UTSW |
7 |
104,792,983 (GRCm39) |
nonsense |
probably null |
|
|
R4826:Or56a5
|
UTSW |
7 |
104,793,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4980:Or56a5
|
UTSW |
7 |
104,793,431 (GRCm39) |
missense |
probably benign |
|
|
R5934:Or56a5
|
UTSW |
7 |
104,792,867 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6354:Or56a5
|
UTSW |
7 |
104,792,915 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7371:Or56a5
|
UTSW |
7 |
104,793,086 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7463:Or56a5
|
UTSW |
7 |
104,793,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7753:Or56a5
|
UTSW |
7 |
104,793,007 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8208:Or56a5
|
UTSW |
7 |
104,792,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8909:Or56a5
|
UTSW |
7 |
104,793,249 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8946:Or56a5
|
UTSW |
7 |
104,792,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9415:Or56a5
|
UTSW |
7 |
104,793,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9493:Or56a5
|
UTSW |
7 |
104,793,497 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9632:Or56a5
|
UTSW |
7 |
104,793,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation