Incidental Mutation 'R3918:Or5ak24'
| ID |
307490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5ak24
|
| Ensembl Gene |
ENSMUSG00000075219 |
| Gene Name |
olfactory receptor family 5 subfamily AK member 24 |
| Synonyms |
MOR203-4, GA_x6K02T2Q125-46907515-46906571, Olfr994 |
| MMRRC Submission |
040816-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R3918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
85260227-85266537 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85261074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 33
(V33D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099925]
[ENSMUST00000214679]
[ENSMUST00000217218]
|
| AlphaFold |
Q8VF73 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099925
AA Change: V33D
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097509
Gene: ENSMUSG00000075219
AA Change: V33D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
5.1e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
302 |
3.5e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
8.2e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214679
AA Change: V33D
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215758
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217218
AA Change: V33D
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,766,774 (GRCm39) |
I52T |
probably damaging |
Het |
| Adhfe1 |
G |
A |
1: 9,646,441 (GRCm39) |
R447H |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,676,515 (GRCm39) |
K72E |
probably benign |
Het |
| Best2 |
T |
G |
8: 85,736,353 (GRCm39) |
D270A |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Col18a1 |
T |
C |
10: 76,889,192 (GRCm39) |
M1721V |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,865,000 (GRCm39) |
T39A |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,761,800 (GRCm39) |
M3897L |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Egf |
T |
C |
3: 129,490,509 (GRCm39) |
I395V |
probably null |
Het |
| Fbln5 |
C |
T |
12: 101,717,050 (GRCm39) |
G446D |
probably damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
C |
1: 150,566,361 (GRCm39) |
T2214S |
probably benign |
Het |
| Lef1 |
A |
G |
3: 130,905,290 (GRCm39) |
N57S |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,621,190 (GRCm39) |
S266P |
probably benign |
Het |
| Marveld2 |
T |
C |
13: 100,748,401 (GRCm39) |
Q226R |
probably benign |
Het |
| Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
| Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,220,064 (GRCm39) |
E138K |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,778,799 (GRCm39) |
T516A |
probably damaging |
Het |
| Ola1 |
A |
G |
2: 72,972,683 (GRCm39) |
V200A |
probably benign |
Het |
| Patj |
C |
A |
4: 98,344,455 (GRCm39) |
P20H |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,101 (GRCm39) |
W416R |
probably benign |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Ppp1r36 |
G |
A |
12: 76,464,431 (GRCm39) |
V10I |
probably benign |
Het |
| Rnf150 |
C |
T |
8: 83,591,090 (GRCm39) |
T151I |
probably benign |
Het |
| Tank |
G |
T |
2: 61,474,130 (GRCm39) |
|
probably null |
Het |
| Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
| Trappc13 |
T |
C |
13: 104,297,590 (GRCm39) |
T105A |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,838 (GRCm39) |
S1066P |
probably damaging |
Het |
| Txndc9 |
G |
A |
1: 38,033,131 (GRCm39) |
Q84* |
probably null |
Het |
| Ubr3 |
A |
T |
2: 69,846,474 (GRCm39) |
|
probably null |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zfp51 |
A |
G |
17: 21,683,702 (GRCm39) |
K106E |
probably benign |
Het |
|
| Other mutations in Or5ak24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Or5ak24
|
APN |
2 |
85,260,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01325:Or5ak24
|
APN |
2 |
85,260,639 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL01634:Or5ak24
|
APN |
2 |
85,260,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01809:Or5ak24
|
APN |
2 |
85,260,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02586:Or5ak24
|
APN |
2 |
85,260,810 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02711:Or5ak24
|
APN |
2 |
85,261,083 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0010:Or5ak24
|
UTSW |
2 |
85,260,239 (GRCm39) |
missense |
probably benign |
|
|
R0578:Or5ak24
|
UTSW |
2 |
85,261,017 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0848:Or5ak24
|
UTSW |
2 |
85,260,365 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1844:Or5ak24
|
UTSW |
2 |
85,260,265 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1912:Or5ak24
|
UTSW |
2 |
85,260,604 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1959:Or5ak24
|
UTSW |
2 |
85,260,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Or5ak24
|
UTSW |
2 |
85,260,696 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2113:Or5ak24
|
UTSW |
2 |
85,260,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2290:Or5ak24
|
UTSW |
2 |
85,260,544 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3622:Or5ak24
|
UTSW |
2 |
85,260,837 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4175:Or5ak24
|
UTSW |
2 |
85,260,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Or5ak24
|
UTSW |
2 |
85,260,895 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6132:Or5ak24
|
UTSW |
2 |
85,260,490 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6439:Or5ak24
|
UTSW |
2 |
85,261,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6713:Or5ak24
|
UTSW |
2 |
85,260,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Or5ak24
|
UTSW |
2 |
85,260,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7089:Or5ak24
|
UTSW |
2 |
85,260,902 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7467:Or5ak24
|
UTSW |
2 |
85,261,171 (GRCm39) |
start codon destroyed |
possibly damaging |
0.90 |
|
R8006:Or5ak24
|
UTSW |
2 |
85,260,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Or5ak24
|
UTSW |
2 |
85,260,996 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8302:Or5ak24
|
UTSW |
2 |
85,260,430 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8468:Or5ak24
|
UTSW |
2 |
85,260,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Or5ak24
|
UTSW |
2 |
85,260,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9407:Or5ak24
|
UTSW |
2 |
85,261,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9559:Or5ak24
|
UTSW |
2 |
85,260,753 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACTGGTTGCAAATACAGC -3'
(R):5'- AGCCACCAAAATTGTGTAGACC -3'
Sequencing Primer
(F):5'- TGATGGCAGATGTGTAGC -3'
(R):5'- GTCATACACAAATGCAAATTCCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation