Incidental Mutation 'R7521:Or55b3'
| ID |
582665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or55b3
|
| Ensembl Gene |
ENSMUSG00000044814 |
| Gene Name |
olfactory receptor family 55 subfamily B member 3 |
| Synonyms |
GA_x6K02T2PBJ9-5199377-5198367, Olfr543, MOR42-2 |
| MMRRC Submission |
045593-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R7521 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
102125980-102127109 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 102126402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 225
(R225H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051201]
[ENSMUST00000061482]
[ENSMUST00000219647]
|
| AlphaFold |
E9PWI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051201
|
| SMART Domains |
Protein: ENSMUSP00000051280
Gene: ENSMUSG00000043925
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
314 |
1.2e-73 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
311 |
6.3e-8 |
PFAM |
|
Pfam:7tm_1
|
45 |
296 |
2.4e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061482
AA Change: R225H
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000051348
Gene: ENSMUSG00000044814
AA Change: R225H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
36 |
315 |
1.5e-70 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
40 |
312 |
1.3e-8 |
PFAM |
|
Pfam:7tm_1
|
46 |
332 |
1.5e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219647
AA Change: R225H
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
A |
G |
17: 31,283,543 (GRCm39) |
N76S |
probably benign |
Het |
| Ahnak |
T |
C |
19: 8,979,715 (GRCm39) |
V333A |
possibly damaging |
Het |
| Arid1b |
GGCGGC |
GGCGGCAGCGGC |
17: 5,046,135 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GGGCGGCGGCGGCGGCGGCGGCGG |
GGGCGGCGGCGGCGGCGGCGGCGGCGGCGG |
17: 5,046,119 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
A |
G |
17: 5,392,865 (GRCm39) |
T2079A |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,507,674 (GRCm39) |
*190R |
probably null |
Het |
| Cntnap3 |
G |
T |
13: 64,919,815 (GRCm39) |
Q681K |
probably benign |
Het |
| Coro7 |
T |
C |
16: 4,449,346 (GRCm39) |
D689G |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,880,663 (GRCm39) |
S2645T |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 161,962,113 (GRCm39) |
L32H |
probably damaging |
Het |
| Dtx4 |
T |
C |
19: 12,469,861 (GRCm39) |
K89E |
probably benign |
Het |
| Exph5 |
T |
A |
9: 53,285,377 (GRCm39) |
N819K |
possibly damaging |
Het |
| Fpgt |
A |
G |
3: 154,792,765 (GRCm39) |
S421P |
possibly damaging |
Het |
| Gbp5 |
T |
C |
3: 142,206,382 (GRCm39) |
V22A |
probably benign |
Het |
| Gpatch1 |
C |
T |
7: 34,993,213 (GRCm39) |
R544Q |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,723,480 (GRCm39) |
L590Q |
possibly damaging |
Het |
| Hc |
T |
C |
2: 34,935,344 (GRCm39) |
D172G |
possibly damaging |
Het |
| Ifi209 |
A |
T |
1: 173,470,261 (GRCm39) |
N283I |
probably damaging |
Het |
| Igsf11 |
C |
T |
16: 38,829,274 (GRCm39) |
T115M |
probably damaging |
Het |
| Il17rd |
T |
A |
14: 26,816,823 (GRCm39) |
M320K |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,409,148 (GRCm39) |
C1610* |
probably null |
Het |
| Mast3 |
T |
A |
8: 71,241,412 (GRCm39) |
I175L |
probably benign |
Het |
| Mif |
A |
T |
10: 75,695,942 (GRCm39) |
S21T |
possibly damaging |
Het |
| Mindy2 |
T |
C |
9: 70,514,792 (GRCm39) |
Q542R |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,530,870 (GRCm39) |
E1389D |
probably damaging |
Het |
| Or5k8 |
T |
C |
16: 58,644,257 (GRCm39) |
I272V |
probably benign |
Het |
| Or5t16 |
T |
A |
2: 86,818,954 (GRCm39) |
T189S |
probably damaging |
Het |
| Or7e177 |
T |
C |
9: 20,212,036 (GRCm39) |
I181T |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,432,196 (GRCm39) |
D1473V |
probably benign |
Het |
| Phax |
C |
T |
18: 56,708,990 (GRCm39) |
Q185* |
probably null |
Het |
| Ppp2r2b |
T |
A |
18: 43,192,242 (GRCm39) |
S22C |
probably benign |
Het |
| Prss40 |
A |
G |
1: 34,597,090 (GRCm39) |
F153L |
probably benign |
Het |
| Slc22a2 |
T |
C |
17: 12,805,710 (GRCm39) |
S154P |
probably benign |
Het |
| Speer4a1 |
G |
A |
5: 26,241,763 (GRCm39) |
T121I |
probably damaging |
Het |
| Tacc1 |
A |
G |
8: 25,665,268 (GRCm39) |
V488A |
possibly damaging |
Het |
| Tdrp |
G |
A |
8: 14,003,831 (GRCm39) |
Q169* |
probably null |
Het |
| Tmem30b |
C |
T |
12: 73,592,092 (GRCm39) |
R341H |
probably benign |
Het |
|
| Other mutations in Or55b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01929:Or55b3
|
APN |
7 |
102,126,373 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02074:Or55b3
|
APN |
7 |
102,126,679 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02104:Or55b3
|
APN |
7 |
102,126,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02124:Or55b3
|
APN |
7 |
102,126,742 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0014:Or55b3
|
UTSW |
7 |
102,126,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Or55b3
|
UTSW |
7 |
102,126,547 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1826:Or55b3
|
UTSW |
7 |
102,126,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Or55b3
|
UTSW |
7 |
102,126,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Or55b3
|
UTSW |
7 |
102,126,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Or55b3
|
UTSW |
7 |
102,126,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Or55b3
|
UTSW |
7 |
102,126,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Or55b3
|
UTSW |
7 |
102,126,957 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6344:Or55b3
|
UTSW |
7 |
102,126,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7031:Or55b3
|
UTSW |
7 |
102,127,057 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7426:Or55b3
|
UTSW |
7 |
102,126,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7621:Or55b3
|
UTSW |
7 |
102,126,472 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7981:Or55b3
|
UTSW |
7 |
102,127,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9048:Or55b3
|
UTSW |
7 |
102,126,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGAGGATTCAAGGCTCCTG -3'
(R):5'- GTGCCCCTAGTGGTACTAACTG -3'
Sequencing Primer
(F):5'- CTCCTGGGAGCAGCAGGTATATG -3'
(R):5'- GTGGTACTAACTGCAAAAGCTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation