Incidental Mutation 'R2994:Or5d18'
| ID |
257136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5d18
|
| Ensembl Gene |
ENSMUSG00000075140 |
| Gene Name |
olfactory receptor family 5 subfamily D member 18 |
| Synonyms |
MOR174-9, GA_x6K02T2Q125-49527073-49526132, mOR-EG, Olfr73 |
| MMRRC Submission |
040529-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.589)
|
| Stock # |
R2994 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
87864540-87865481 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87865301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 61
(Y61H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149472
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099838]
[ENSMUST00000129056]
|
| AlphaFold |
Q920P2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099838
AA Change: Y61H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097426
Gene: ENSMUSG00000075140
AA Change: Y61H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
6e-48 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
6.1e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129056
AA Change: Y61H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,603,538 (GRCm39) |
S577P |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,251,785 (GRCm39) |
T1826A |
possibly damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Btnl6 |
C |
A |
17: 34,734,498 (GRCm39) |
R88I |
possibly damaging |
Het |
| Cfap52 |
T |
A |
11: 67,830,617 (GRCm39) |
Y281F |
probably benign |
Het |
| CK137956 |
T |
C |
4: 127,845,300 (GRCm39) |
T148A |
probably benign |
Het |
| Fpr3 |
C |
T |
17: 18,191,130 (GRCm39) |
Q134* |
probably null |
Het |
| Gbp4 |
A |
T |
5: 105,284,886 (GRCm39) |
M1K |
probably null |
Het |
| Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
A |
G |
9: 72,638,185 (GRCm39) |
D440G |
probably benign |
Het |
| Nlgn1 |
C |
T |
3: 25,490,162 (GRCm39) |
D522N |
probably damaging |
Het |
| Oprk1 |
T |
C |
1: 5,672,955 (GRCm39) |
V364A |
probably benign |
Het |
| Or1e35 |
T |
C |
11: 73,797,541 (GRCm39) |
Y259C |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,027,473 (GRCm39) |
|
probably null |
Het |
| Psmd11 |
T |
C |
11: 80,351,493 (GRCm39) |
Y239H |
probably damaging |
Het |
| Ripor2 |
A |
T |
13: 24,885,610 (GRCm39) |
D576V |
probably damaging |
Het |
| Rundc3a |
C |
T |
11: 102,291,489 (GRCm39) |
T327I |
probably damaging |
Het |
| Sh3rf1 |
A |
G |
8: 61,825,609 (GRCm39) |
T535A |
probably benign |
Het |
| Slc13a2 |
T |
A |
11: 78,295,563 (GRCm39) |
E101V |
probably damaging |
Het |
| Tg |
A |
T |
15: 66,553,802 (GRCm39) |
T406S |
probably benign |
Het |
| Tjp2 |
T |
C |
19: 24,090,215 (GRCm39) |
E609G |
probably damaging |
Het |
| Zfp459 |
G |
A |
13: 67,556,853 (GRCm39) |
P77S |
possibly damaging |
Het |
| Zfp612 |
A |
G |
8: 110,816,049 (GRCm39) |
K380E |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,228 (GRCm39) |
E527G |
probably damaging |
Het |
|
| Other mutations in Or5d18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03137:Or5d18
|
APN |
2 |
87,864,754 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03377:Or5d18
|
APN |
2 |
87,864,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4260001:Or5d18
|
UTSW |
2 |
87,865,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0013:Or5d18
|
UTSW |
2 |
87,864,610 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0969:Or5d18
|
UTSW |
2 |
87,864,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1216:Or5d18
|
UTSW |
2 |
87,864,602 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2148:Or5d18
|
UTSW |
2 |
87,864,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2355:Or5d18
|
UTSW |
2 |
87,865,379 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2357:Or5d18
|
UTSW |
2 |
87,865,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3806:Or5d18
|
UTSW |
2 |
87,864,911 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4618:Or5d18
|
UTSW |
2 |
87,864,898 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4975:Or5d18
|
UTSW |
2 |
87,865,005 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5753:Or5d18
|
UTSW |
2 |
87,864,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6795:Or5d18
|
UTSW |
2 |
87,864,668 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8982:Or5d18
|
UTSW |
2 |
87,864,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Or5d18
|
UTSW |
2 |
87,864,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1190:Or5d18
|
UTSW |
2 |
87,865,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCCACTGTGTAGAGTAGAG -3'
(R):5'- TGTCAGATGGAAATCACAGTGG -3'
Sequencing Primer
(F):5'- TTGCGGATGGCCACAAAC -3'
(R):5'- CAGTGGGGCTGTGTTCACC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation