Incidental Mutation 'R4292:Or5b98'
| ID |
323140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b98
|
| Ensembl Gene |
ENSMUSG00000062892 |
| Gene Name |
olfactory receptor family 5 subfamily B member 98 |
| Synonyms |
Olfr1450, GA_x6K02T2RE5P-3283121-3284098, MOR202-33 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4292 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12930955-12931932 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12931520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 189
(C189Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150243
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082006]
[ENSMUST00000213587]
[ENSMUST00000213925]
|
| AlphaFold |
Q8VF19 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000082006
AA Change: C189Y
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000080666
Gene: ENSMUSG00000062892
AA Change: C189Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
6.8e-52 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
2.5e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.1e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213587
AA Change: C189Y
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213925
AA Change: C189Y
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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 |
|---|
| Adamts9 |
T |
C |
6: 92,772,977 (GRCm39) |
K1232E |
possibly damaging |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,199,524 (GRCm39) |
Q20R |
probably damaging |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Brwd1 |
G |
A |
16: 95,818,804 (GRCm39) |
P1343S |
probably damaging |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,079 (GRCm39) |
V311D |
probably damaging |
Het |
| Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,714,207 (GRCm39) |
A116T |
possibly damaging |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Hddc2 |
A |
T |
10: 31,190,583 (GRCm39) |
M48L |
possibly damaging |
Het |
| Kif18a |
A |
T |
2: 109,128,471 (GRCm39) |
I376L |
probably damaging |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,085,723 (GRCm39) |
K1855R |
possibly damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,097,834 (GRCm39) |
Y26C |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,899,508 (GRCm39) |
T41A |
probably damaging |
Het |
| Prss58 |
T |
C |
6: 40,874,244 (GRCm39) |
D144G |
probably damaging |
Het |
| Rrp12 |
T |
C |
19: 41,861,344 (GRCm39) |
|
probably null |
Het |
| Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
| Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Slco4c1 |
C |
G |
1: 96,772,381 (GRCm39) |
|
probably null |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Tgfb2 |
T |
C |
1: 186,364,735 (GRCm39) |
H253R |
probably damaging |
Het |
| Top3b |
A |
T |
16: 16,701,383 (GRCm39) |
I232F |
probably damaging |
Het |
| Trim24 |
G |
A |
6: 37,877,627 (GRCm39) |
R39H |
possibly damaging |
Het |
| Tsc22d1 |
T |
A |
14: 76,656,320 (GRCm39) |
M851K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,762,855 (GRCm39) |
V3268A |
possibly damaging |
Het |
| Unc79 |
A |
T |
12: 103,149,703 (GRCm39) |
Q2599L |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,636,996 (GRCm39) |
T693A |
probably benign |
Het |
|
| Other mutations in Or5b98 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01978:Or5b98
|
APN |
19 |
12,931,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02378:Or5b98
|
APN |
19 |
12,931,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02405:Or5b98
|
APN |
19 |
12,931,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02493:Or5b98
|
APN |
19 |
12,931,138 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02496:Or5b98
|
APN |
19 |
12,931,556 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02866:Or5b98
|
APN |
19 |
12,931,719 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02886:Or5b98
|
APN |
19 |
12,931,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03223:Or5b98
|
APN |
19 |
12,931,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03286:Or5b98
|
APN |
19 |
12,931,532 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03396:Or5b98
|
APN |
19 |
12,931,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Or5b98
|
UTSW |
19 |
12,931,720 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0106:Or5b98
|
UTSW |
19 |
12,931,720 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0544:Or5b98
|
UTSW |
19 |
12,931,066 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1660:Or5b98
|
UTSW |
19 |
12,931,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Or5b98
|
UTSW |
19 |
12,931,696 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4647:Or5b98
|
UTSW |
19 |
12,931,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5964:Or5b98
|
UTSW |
19 |
12,931,895 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6398:Or5b98
|
UTSW |
19 |
12,931,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6681:Or5b98
|
UTSW |
19 |
12,931,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7129:Or5b98
|
UTSW |
19 |
12,931,478 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7399:Or5b98
|
UTSW |
19 |
12,931,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7561:Or5b98
|
UTSW |
19 |
12,931,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7692:Or5b98
|
UTSW |
19 |
12,931,006 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8094:Or5b98
|
UTSW |
19 |
12,931,366 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8258:Or5b98
|
UTSW |
19 |
12,931,727 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8259:Or5b98
|
UTSW |
19 |
12,931,727 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9522:Or5b98
|
UTSW |
19 |
12,931,377 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCAAGCCCTTACATTATACC -3'
(R):5'- TGGAATGACTAGAACTGGGCTG -3'
Sequencing Primer
(F):5'- CCACAAATATGACTACCAGTGTGTG -3'
(R):5'- TGACTAGAACTGGGCTGTAAGTAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation