Incidental Mutation 'IGL02428:Or5ak23'
| ID |
292982 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5ak23
|
| Ensembl Gene |
ENSMUSG00000075220 |
| Gene Name |
olfactory receptor family 5 subfamily AK member 23 |
| Synonyms |
MOR203-2, Olfr993, GA_x6K02T2Q125-46891524-46890580 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
IGL02428
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
85244277-85245221 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85244537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 229
(S229P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099926]
[ENSMUST00000213749]
[ENSMUST00000214895]
[ENSMUST00000215617]
|
| AlphaFold |
Q8VF75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099926
AA Change: S229P
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000097510
Gene: ENSMUSG00000075220
AA Change: S229P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
3e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
303 |
1.3e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213749
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215617
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
T |
C |
14: 32,110,205 (GRCm39) |
|
probably benign |
Het |
| AB124611 |
C |
T |
9: 21,440,221 (GRCm39) |
S69L |
possibly damaging |
Het |
| Abca6 |
G |
A |
11: 110,069,618 (GRCm39) |
A1566V |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,992,197 (GRCm39) |
I4494V |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,721,791 (GRCm39) |
Y2081* |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,289,561 (GRCm39) |
T423A |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,064,516 (GRCm39) |
I125F |
possibly damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,368,609 (GRCm39) |
L1845P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,385 (GRCm39) |
V208A |
possibly damaging |
Het |
| Fanci |
A |
G |
7: 79,094,264 (GRCm39) |
|
probably benign |
Het |
| Fezf2 |
T |
C |
14: 12,344,494 (GRCm38) |
E231G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,451,484 (GRCm39) |
D1566G |
probably damaging |
Het |
| Gm11565 |
A |
G |
11: 99,805,811 (GRCm39) |
T68A |
probably benign |
Het |
| Ifng |
G |
A |
10: 118,281,159 (GRCm39) |
R154H |
probably damaging |
Het |
| Il1r1 |
G |
A |
1: 40,352,392 (GRCm39) |
E521K |
possibly damaging |
Het |
| Irf3 |
G |
T |
7: 44,648,163 (GRCm39) |
L9F |
probably damaging |
Het |
| Jade1 |
T |
G |
3: 41,568,374 (GRCm39) |
I814S |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 192,019,851 (GRCm39) |
W365* |
probably null |
Het |
| Kif16b |
T |
C |
2: 142,514,280 (GRCm39) |
T1209A |
possibly damaging |
Het |
| Mcur1 |
A |
T |
13: 43,695,203 (GRCm39) |
S324T |
probably damaging |
Het |
| Mgat2 |
C |
A |
12: 69,231,558 (GRCm39) |
A44E |
probably benign |
Het |
| Nox1 |
A |
G |
X: 133,008,583 (GRCm39) |
|
probably benign |
Het |
| Oga |
A |
T |
19: 45,753,940 (GRCm39) |
W645R |
probably damaging |
Het |
| Or52ae7 |
A |
T |
7: 103,119,590 (GRCm39) |
I115F |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,265,090 (GRCm39) |
I340N |
probably damaging |
Het |
| Pde11a |
T |
C |
2: 75,877,189 (GRCm39) |
E760G |
possibly damaging |
Het |
| Per3 |
C |
T |
4: 151,102,674 (GRCm39) |
|
probably null |
Het |
| Rabep1 |
G |
A |
11: 70,808,306 (GRCm39) |
A421T |
probably benign |
Het |
| Rint1 |
C |
T |
5: 23,999,450 (GRCm39) |
Q80* |
probably null |
Het |
| Rnaset2b |
G |
A |
17: 7,248,568 (GRCm39) |
|
probably null |
Het |
| Sccpdh |
T |
C |
1: 179,508,070 (GRCm39) |
Y237H |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,520,628 (GRCm39) |
T91S |
probably damaging |
Het |
| Spock1 |
A |
G |
13: 57,592,245 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
A |
G |
1: 52,182,125 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,118,203 (GRCm39) |
E2212G |
probably damaging |
Het |
| Taok1 |
T |
A |
11: 77,440,103 (GRCm39) |
R635W |
probably benign |
Het |
| Vmn1r39 |
A |
G |
6: 66,781,946 (GRCm39) |
I124T |
probably benign |
Het |
| Vmn2r32 |
T |
C |
7: 7,477,283 (GRCm39) |
I369M |
probably benign |
Het |
|
| Other mutations in Or5ak23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03209:Or5ak23
|
APN |
2 |
85,244,723 (GRCm39) |
missense |
probably benign |
0.05 |
|
BB001:Or5ak23
|
UTSW |
2 |
85,244,563 (GRCm39) |
missense |
probably benign |
0.06 |
|
BB011:Or5ak23
|
UTSW |
2 |
85,244,563 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0591:Or5ak23
|
UTSW |
2 |
85,245,034 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1437:Or5ak23
|
UTSW |
2 |
85,245,218 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1836:Or5ak23
|
UTSW |
2 |
85,244,749 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2084:Or5ak23
|
UTSW |
2 |
85,244,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2902:Or5ak23
|
UTSW |
2 |
85,244,396 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2910:Or5ak23
|
UTSW |
2 |
85,244,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3961:Or5ak23
|
UTSW |
2 |
85,245,216 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4542:Or5ak23
|
UTSW |
2 |
85,244,287 (GRCm39) |
missense |
probably benign |
|
|
R4635:Or5ak23
|
UTSW |
2 |
85,245,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5464:Or5ak23
|
UTSW |
2 |
85,245,057 (GRCm39) |
frame shift |
probably null |
|
|
R5980:Or5ak23
|
UTSW |
2 |
85,244,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Or5ak23
|
UTSW |
2 |
85,244,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6356:Or5ak23
|
UTSW |
2 |
85,245,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6619:Or5ak23
|
UTSW |
2 |
85,244,425 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6672:Or5ak23
|
UTSW |
2 |
85,244,948 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7326:Or5ak23
|
UTSW |
2 |
85,244,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7328:Or5ak23
|
UTSW |
2 |
85,244,668 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7569:Or5ak23
|
UTSW |
2 |
85,244,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:Or5ak23
|
UTSW |
2 |
85,244,563 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9178:Or5ak23
|
UTSW |
2 |
85,244,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9363:Or5ak23
|
UTSW |
2 |
85,244,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or5ak23
|
UTSW |
2 |
85,245,029 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1176:Or5ak23
|
UTSW |
2 |
85,245,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation