Incidental Mutation 'IGL03136:Or5b94'
| ID |
410517 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5b94
|
| Ensembl Gene |
ENSMUSG00000044441 |
| Gene Name |
olfactory receptor family 5 subfamily B member 94 |
| Synonyms |
Olfr1442, GA_x6K02T2RE5P-3000589-3001527, MOR202-9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL03136
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12651543-12652607 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12652331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 254
(I254N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049724]
[ENSMUST00000057924]
[ENSMUST00000207341]
[ENSMUST00000208494]
[ENSMUST00000208657]
[ENSMUST00000213486]
[ENSMUST00000215134]
|
| AlphaFold |
Q0VEV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049724
|
| SMART Domains |
Protein: ENSMUSP00000059886
Gene: ENSMUSG00000045030
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
2.4e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
303 |
1.5e-6 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
8.6e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057924
AA Change: I254N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000050632
Gene: ENSMUSG00000044441
AA Change: I254N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
7.9e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
303 |
1.6e-6 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.6e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207341
AA Change: I254N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208494
AA Change: I254N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208657
AA Change: I254N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213486
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215134
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,719,122 (GRCm39) |
L7S |
unknown |
Het |
| Abr |
C |
T |
11: 76,316,121 (GRCm39) |
W571* |
probably null |
Het |
| Adam18 |
A |
T |
8: 25,131,852 (GRCm39) |
C420S |
probably damaging |
Het |
| Akap5 |
G |
T |
12: 76,376,649 (GRCm39) |
E694* |
probably null |
Het |
| Bbs1 |
T |
C |
19: 4,941,019 (GRCm39) |
K565R |
probably benign |
Het |
| Brix1 |
A |
G |
15: 10,478,852 (GRCm39) |
F189S |
probably damaging |
Het |
| Cnot4 |
C |
A |
6: 35,028,176 (GRCm39) |
R480L |
probably damaging |
Het |
| Ctu2 |
A |
G |
8: 123,205,940 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
A |
G |
7: 143,401,103 (GRCm39) |
H422R |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,770,118 (GRCm39) |
M1793V |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,892,028 (GRCm39) |
F853L |
probably damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,258,466 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
C |
T |
11: 106,144,639 (GRCm39) |
D117N |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,528,107 (GRCm39) |
I142V |
possibly damaging |
Het |
| Hsd3b1 |
G |
A |
3: 98,760,301 (GRCm39) |
A230V |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,145,156 (GRCm39) |
A836T |
probably benign |
Het |
| Ift52 |
G |
T |
2: 162,867,254 (GRCm39) |
E71* |
probably null |
Het |
| Ms4a14 |
T |
C |
19: 11,281,775 (GRCm39) |
D261G |
possibly damaging |
Het |
| Nid1 |
G |
A |
13: 13,675,084 (GRCm39) |
V935I |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,330,687 (GRCm39) |
K1008E |
possibly damaging |
Het |
| Nup210 |
A |
C |
6: 91,005,843 (GRCm39) |
V1340G |
probably benign |
Het |
| Or2aj4 |
A |
T |
16: 19,385,103 (GRCm39) |
F177I |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,854,332 (GRCm39) |
Y259H |
probably damaging |
Het |
| Pcdhb15 |
C |
A |
18: 37,608,067 (GRCm39) |
T433N |
probably damaging |
Het |
| Pdcd6ip |
T |
A |
9: 113,520,567 (GRCm39) |
N139I |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,617,609 (GRCm39) |
V80A |
possibly damaging |
Het |
| Pigw |
A |
G |
11: 84,768,603 (GRCm39) |
I242T |
probably benign |
Het |
| Prtg |
T |
G |
9: 72,764,267 (GRCm39) |
V580G |
possibly damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,691,329 (GRCm39) |
N1065K |
possibly damaging |
Het |
| Qrich1 |
G |
A |
9: 108,422,117 (GRCm39) |
R577H |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,506,319 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
C |
5: 30,462,725 (GRCm39) |
Y197H |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,201,591 (GRCm39) |
C343R |
probably benign |
Het |
| Smurf2 |
A |
T |
11: 106,721,874 (GRCm39) |
D527E |
probably benign |
Het |
| Spam1 |
C |
T |
6: 24,797,010 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,841,435 (GRCm39) |
V460A |
probably benign |
Het |
| Tgoln1 |
G |
A |
6: 72,591,096 (GRCm39) |
R339W |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,231,512 (GRCm39) |
|
probably benign |
Het |
| Treml1 |
T |
G |
17: 48,671,879 (GRCm39) |
|
probably benign |
Het |
| Ttc39b |
A |
T |
4: 83,155,517 (GRCm39) |
V497E |
probably damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,933 (GRCm39) |
T176A |
possibly damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,797,911 (GRCm39) |
I634N |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,857,592 (GRCm39) |
E2608G |
probably damaging |
Het |
| Zfp575 |
A |
G |
7: 24,285,381 (GRCm39) |
C87R |
probably damaging |
Het |
| Zfp790 |
T |
A |
7: 29,529,320 (GRCm39) |
Y668* |
probably null |
Het |
|
| Other mutations in Or5b94 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Or5b94
|
APN |
19 |
12,651,924 (GRCm39) |
nonsense |
probably null |
|
|
IGL00969:Or5b94
|
APN |
19 |
12,651,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01788:Or5b94
|
APN |
19 |
12,652,442 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02081:Or5b94
|
APN |
19 |
12,652,180 (GRCm39) |
missense |
probably benign |
|
|
IGL02335:Or5b94
|
APN |
19 |
12,651,602 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02383:Or5b94
|
APN |
19 |
12,651,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02389:Or5b94
|
APN |
19 |
12,651,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02484:Or5b94
|
APN |
19 |
12,652,223 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02682:Or5b94
|
APN |
19 |
12,652,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0109:Or5b94
|
UTSW |
19 |
12,652,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0109:Or5b94
|
UTSW |
19 |
12,652,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0112:Or5b94
|
UTSW |
19 |
12,652,121 (GRCm39) |
missense |
probably benign |
|
|
R4005:Or5b94
|
UTSW |
19 |
12,652,210 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4346:Or5b94
|
UTSW |
19 |
12,651,592 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4611:Or5b94
|
UTSW |
19 |
12,652,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Or5b94
|
UTSW |
19 |
12,651,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5944:Or5b94
|
UTSW |
19 |
12,652,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6406:Or5b94
|
UTSW |
19 |
12,652,184 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6923:Or5b94
|
UTSW |
19 |
12,652,409 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7710:Or5b94
|
UTSW |
19 |
12,652,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8699:Or5b94
|
UTSW |
19 |
12,652,246 (GRCm39) |
missense |
probably benign |
0.21 |
|
Z1176:Or5b94
|
UTSW |
19 |
12,651,674 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation