Incidental Mutation 'R5404:Or4p20'
| ID |
428614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4p20
|
| Ensembl Gene |
ENSMUSG00000075125 |
| Gene Name |
olfactory receptor family 4 subfamily P member 20 |
| Synonyms |
Olfr1181, GA_x6K02T2Q125-49911636-49910701, MOR225-9P |
| MMRRC Submission |
042975-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5404 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
88253432-88254367 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 88254145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 75
(V75M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099823]
[ENSMUST00000102619]
[ENSMUST00000213190]
[ENSMUST00000216121]
[ENSMUST00000217320]
|
| AlphaFold |
Q7TR18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099823
AA Change: V75M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097411
Gene: ENSMUSG00000075125
AA Change: V75M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
303 |
1.5e-48 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
6.9e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102619
AA Change: V75M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099679
Gene: ENSMUSG00000075125
AA Change: V75M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
39 |
285 |
7.2e-26 |
PFAM |
|
Pfam:7tm_4
|
137 |
278 |
3.5e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213190
AA Change: V75M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217320
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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 |
|---|
| A1bg |
T |
C |
15: 60,791,545 (GRCm39) |
H297R |
probably benign |
Het |
| Ccnk |
A |
T |
12: 108,161,882 (GRCm39) |
K262N |
possibly damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,158,308 (GRCm39) |
Y58F |
probably benign |
Het |
| Cp |
A |
C |
3: 20,043,292 (GRCm39) |
T1027P |
possibly damaging |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Cry1 |
T |
C |
10: 85,020,283 (GRCm39) |
N18S |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,481,630 (GRCm39) |
|
probably benign |
Het |
| Fance |
A |
T |
17: 28,537,034 (GRCm39) |
R58W |
probably null |
Het |
| Fermt1 |
T |
C |
2: 132,776,789 (GRCm39) |
D233G |
possibly damaging |
Het |
| Gabpa |
T |
A |
16: 84,657,351 (GRCm39) |
Y409N |
probably damaging |
Het |
| Gpr162 |
A |
G |
6: 124,838,606 (GRCm39) |
S15P |
possibly damaging |
Het |
| Grid2 |
T |
A |
6: 63,907,894 (GRCm39) |
I178N |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,446,063 (GRCm39) |
V233A |
probably benign |
Het |
| Lemd3 |
G |
A |
10: 120,767,863 (GRCm39) |
Q672* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,980,341 (GRCm39) |
T1488A |
probably benign |
Het |
| Narf |
T |
A |
11: 121,133,452 (GRCm39) |
H84Q |
probably benign |
Het |
| Nedd1 |
C |
T |
10: 92,552,054 (GRCm39) |
V69I |
probably benign |
Het |
| Nfil3 |
G |
A |
13: 53,122,091 (GRCm39) |
S271F |
probably damaging |
Het |
| Npc1 |
A |
G |
18: 12,346,356 (GRCm39) |
L280P |
possibly damaging |
Het |
| Or2n1e |
T |
A |
17: 38,586,517 (GRCm39) |
L285* |
probably null |
Het |
| Or51a25 |
T |
A |
7: 102,372,807 (GRCm39) |
I297F |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,503 (GRCm39) |
S503P |
probably benign |
Het |
| Rbm5 |
T |
C |
9: 107,642,752 (GRCm39) |
E94G |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Rps6ka5 |
T |
C |
12: 100,582,352 (GRCm39) |
I173M |
probably damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,951,488 (GRCm39) |
L223P |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,806,131 (GRCm39) |
K213E |
probably damaging |
Het |
| Spem1 |
T |
A |
11: 69,711,763 (GRCm39) |
K300N |
probably damaging |
Het |
| Tchh |
A |
G |
3: 93,354,982 (GRCm39) |
E1474G |
unknown |
Het |
| Tenm4 |
A |
T |
7: 96,543,887 (GRCm39) |
R1968W |
probably damaging |
Het |
| Tshz2 |
A |
T |
2: 169,726,240 (GRCm39) |
M279L |
probably benign |
Het |
| Tuba3a |
G |
T |
6: 125,258,555 (GRCm39) |
T145K |
possibly damaging |
Het |
|
| Other mutations in Or4p20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Or4p20
|
APN |
2 |
88,254,130 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02224:Or4p20
|
APN |
2 |
88,254,052 (GRCm39) |
splice site |
probably null |
|
|
IGL03293:Or4p20
|
APN |
2 |
88,253,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02802:Or4p20
|
UTSW |
2 |
88,253,832 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2214:Or4p20
|
UTSW |
2 |
88,253,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2508:Or4p20
|
UTSW |
2 |
88,253,800 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4050:Or4p20
|
UTSW |
2 |
88,253,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5727:Or4p20
|
UTSW |
2 |
88,253,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6578:Or4p20
|
UTSW |
2 |
88,253,488 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6663:Or4p20
|
UTSW |
2 |
88,253,694 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6974:Or4p20
|
UTSW |
2 |
88,254,156 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7042:Or4p20
|
UTSW |
2 |
88,253,746 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7659:Or4p20
|
UTSW |
2 |
88,254,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Or4p20
|
UTSW |
2 |
88,253,745 (GRCm39) |
missense |
probably benign |
|
|
R8470:Or4p20
|
UTSW |
2 |
88,254,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Or4p20
|
UTSW |
2 |
88,253,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9546:Or4p20
|
UTSW |
2 |
88,254,049 (GRCm39) |
missense |
probably benign |
|
|
R9706:Or4p20
|
UTSW |
2 |
88,253,779 (GRCm39) |
missense |
probably benign |
|
|
R9735:Or4p20
|
UTSW |
2 |
88,253,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Or4p20
|
UTSW |
2 |
88,254,006 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Or4p20
|
UTSW |
2 |
88,254,159 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCATCATAACCTGGGGAAAG -3'
(R):5'- TGGGGCTATCTTCCAAGCAG -3'
Sequencing Primer
(F):5'- AAACATGGCATCTGTTTCTGC -3'
(R):5'- CCAAGCAGAACACTGAAGTATTTTGC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation