Incidental Mutation 'IGL00896:Or51l4'
| ID |
27752 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51l4
|
| Ensembl Gene |
ENSMUSG00000050281 |
| Gene Name |
olfactory receptor family 51 subfamily L member 4 |
| Synonyms |
Olfr630, MOR17-1, GA_x6K02T2PBJ9-6483085-6482126 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL00896
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103403357-103406557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103404213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 193
(D193G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106880]
|
| AlphaFold |
Q9EQQ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052826
AA Change: D193G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049569
Gene: ENSMUSG00000050281
AA Change: D193G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
3.4e-120 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
305 |
3.7e-8 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
1.1e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106880
AA Change: D193G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: D193G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
37 |
305 |
3.7e-8 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
8.4e-25 |
PFAM |
|
Pfam:7tm_4
|
144 |
287 |
9e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217072
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6a |
A |
G |
12: 113,509,030 (GRCm39) |
T468A |
possibly damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,591,592 (GRCm39) |
E626G |
probably damaging |
Het |
| Arhgef4 |
A |
G |
1: 34,850,777 (GRCm39) |
Y1812C |
possibly damaging |
Het |
| Aurkc |
T |
C |
7: 7,005,513 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,093,611 (GRCm39) |
T4352A |
probably benign |
Het |
| Cpb1 |
A |
G |
3: 20,306,193 (GRCm39) |
V329A |
probably benign |
Het |
| Cyp2d11 |
G |
T |
15: 82,275,275 (GRCm39) |
|
probably benign |
Het |
| Dnase1 |
G |
A |
16: 3,857,076 (GRCm39) |
S28N |
probably benign |
Het |
| Drgx |
C |
T |
14: 32,327,171 (GRCm39) |
|
probably benign |
Het |
| Evpl |
C |
A |
11: 116,113,410 (GRCm39) |
E1427* |
probably null |
Het |
| Gimap6 |
T |
C |
6: 48,679,394 (GRCm39) |
N214S |
probably benign |
Het |
| Htr1f |
A |
T |
16: 64,746,469 (GRCm39) |
H274Q |
probably benign |
Het |
| Ipo9 |
A |
T |
1: 135,327,797 (GRCm39) |
V538E |
probably damaging |
Het |
| Lmf2 |
T |
C |
15: 89,237,539 (GRCm39) |
K308E |
probably benign |
Het |
| Mog |
T |
A |
17: 37,328,377 (GRCm39) |
|
probably null |
Het |
| Myo19 |
T |
C |
11: 84,800,324 (GRCm39) |
V903A |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,876,885 (GRCm39) |
T179A |
unknown |
Het |
| Nckap1 |
C |
T |
2: 80,411,297 (GRCm39) |
V5M |
possibly damaging |
Het |
| Or1e23 |
T |
C |
11: 73,407,167 (GRCm39) |
N286S |
probably damaging |
Het |
| Or9a2 |
A |
T |
6: 41,749,047 (GRCm39) |
L62Q |
probably damaging |
Het |
| Pcdhb5 |
T |
G |
18: 37,455,838 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
C |
A |
8: 41,729,160 (GRCm39) |
Q711K |
possibly damaging |
Het |
| Pde6a |
A |
G |
18: 61,353,864 (GRCm39) |
D63G |
possibly damaging |
Het |
| Piezo1 |
T |
C |
8: 123,224,609 (GRCm39) |
M711V |
possibly damaging |
Het |
| Rev1 |
G |
A |
1: 38,138,021 (GRCm39) |
T88I |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,665,634 (GRCm39) |
|
probably null |
Het |
| Sult2a1 |
T |
A |
7: 13,566,565 (GRCm39) |
T137S |
probably benign |
Het |
| Txndc15 |
G |
A |
13: 55,873,488 (GRCm39) |
A283T |
probably damaging |
Het |
| Zswim8 |
A |
G |
14: 20,766,069 (GRCm39) |
E785G |
probably damaging |
Het |
|
| Other mutations in Or51l4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01111:Or51l4
|
APN |
7 |
103,404,580 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02456:Or51l4
|
APN |
7 |
103,404,700 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03173:Or51l4
|
APN |
7 |
103,404,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1104:Or51l4
|
UTSW |
7 |
103,404,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1507:Or51l4
|
UTSW |
7 |
103,404,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1695:Or51l4
|
UTSW |
7 |
103,404,131 (GRCm39) |
nonsense |
probably null |
|
|
R1966:Or51l4
|
UTSW |
7 |
103,404,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Or51l4
|
UTSW |
7 |
103,404,527 (GRCm39) |
nonsense |
probably null |
|
|
R2696:Or51l4
|
UTSW |
7 |
103,404,735 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4943:Or51l4
|
UTSW |
7 |
103,404,503 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5622:Or51l4
|
UTSW |
7 |
103,404,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6365:Or51l4
|
UTSW |
7 |
103,404,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7592:Or51l4
|
UTSW |
7 |
103,404,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8146:Or51l4
|
UTSW |
7 |
103,404,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8283:Or51l4
|
UTSW |
7 |
103,404,019 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8867:Or51l4
|
UTSW |
7 |
103,403,893 (GRCm39) |
nonsense |
probably null |
|
|
R8875:Or51l4
|
UTSW |
7 |
103,404,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9658:Or51l4
|
UTSW |
7 |
103,404,028 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-04-17 |
Incidental Mutation