Incidental Mutation 'R6605:Or2y1b'
| ID |
525620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2y1b
|
| Ensembl Gene |
ENSMUSG00000100923 |
| Gene Name |
olfactory receptor family 2 subfamily Y member 1B |
| Synonyms |
L45, MOR256-55, Olfr10, GA_x6K02T2QP88-6117098-6116163 |
| MMRRC Submission |
044728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R6605 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
49208375-49209310 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49208541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 56
(H56L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000187570]
[ENSMUST00000217290]
|
| AlphaFold |
Q60883 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187570
AA Change: H56L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139744
Gene: ENSMUSG00000100923
AA Change: H56L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srsx
|
35 |
222 |
4.7e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
1.3e-33 |
PFAM |
|
Pfam:7tm_4
|
139 |
282 |
4.6e-43 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217290
AA Change: H56L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
92% (35/38) |
| 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 |
|---|
| Abcc6 |
T |
A |
7: 45,630,481 (GRCm39) |
I1260F |
probably damaging |
Het |
| Acat2 |
A |
G |
17: 13,162,774 (GRCm39) |
V358A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,636,081 (GRCm39) |
A3476V |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,229,516 (GRCm39) |
N150D |
probably damaging |
Het |
| Asb2 |
G |
T |
12: 103,311,943 (GRCm39) |
Q60K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,134 (GRCm39) |
R708* |
probably null |
Het |
| Cd79b |
C |
T |
11: 106,203,539 (GRCm39) |
G116D |
probably damaging |
Het |
| Copg2 |
A |
G |
6: 30,835,757 (GRCm39) |
F218S |
probably benign |
Het |
| Defa5 |
A |
C |
8: 21,787,604 (GRCm39) |
E50D |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,890,107 (GRCm39) |
|
probably null |
Het |
| Eva1c |
T |
A |
16: 90,663,236 (GRCm39) |
V91D |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,043,283 (GRCm39) |
Y25C |
probably damaging |
Het |
| Gm5141 |
G |
A |
13: 62,922,201 (GRCm39) |
H323Y |
probably damaging |
Het |
| Gpr19 |
T |
C |
6: 134,847,398 (GRCm39) |
N58S |
probably benign |
Het |
| Gpr26 |
G |
A |
7: 131,585,893 (GRCm39) |
A288T |
possibly damaging |
Het |
| Gucy2g |
T |
A |
19: 55,229,460 (GRCm39) |
Q70L |
probably damaging |
Het |
| Ifit2 |
C |
T |
19: 34,550,897 (GRCm39) |
R146* |
probably null |
Het |
| Lgr5 |
A |
C |
10: 115,293,772 (GRCm39) |
N408K |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,132,692 (GRCm39) |
Y191* |
probably null |
Het |
| Npr3 |
C |
G |
15: 11,905,518 (GRCm39) |
A70P |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,265,032 (GRCm39) |
|
probably null |
Het |
| Pnlip |
A |
T |
19: 58,660,174 (GRCm39) |
D29V |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,088,567 (GRCm39) |
F277I |
possibly damaging |
Het |
| Pou2f2 |
A |
C |
7: 24,793,006 (GRCm39) |
V441G |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,740,002 (GRCm39) |
V459A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,729,195 (GRCm39) |
V855E |
probably damaging |
Het |
| Rflna |
A |
G |
5: 125,088,352 (GRCm39) |
T100A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,131,871 (GRCm39) |
S380T |
probably benign |
Het |
| Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
| Taar8a |
A |
T |
10: 23,952,674 (GRCm39) |
I93F |
possibly damaging |
Het |
| Taok2 |
T |
A |
7: 126,477,930 (GRCm39) |
D207V |
probably damaging |
Het |
| Tpst2 |
A |
T |
5: 112,424,600 (GRCm39) |
|
probably benign |
Homo |
| Trdv2-1 |
A |
G |
14: 54,183,999 (GRCm39) |
N77S |
possibly damaging |
Het |
| Wdr17 |
A |
C |
8: 55,134,559 (GRCm39) |
V18G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,261 (GRCm39) |
V402A |
probably damaging |
Het |
| Zfp772 |
T |
C |
7: 7,208,547 (GRCm39) |
E99G |
possibly damaging |
Het |
| Zw10 |
A |
G |
9: 48,980,926 (GRCm39) |
D442G |
probably benign |
Het |
|
| Other mutations in Or2y1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01349:Or2y1b
|
APN |
11 |
49,209,127 (GRCm39) |
nonsense |
probably null |
0.00 |
|
IGL02283:Or2y1b
|
APN |
11 |
49,209,162 (GRCm39) |
missense |
probably benign |
|
|
IGL03010:Or2y1b
|
APN |
11 |
49,208,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0575:Or2y1b
|
UTSW |
11 |
49,208,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1430:Or2y1b
|
UTSW |
11 |
49,208,928 (GRCm39) |
splice site |
probably null |
|
|
R1891:Or2y1b
|
UTSW |
11 |
49,208,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2509:Or2y1b
|
UTSW |
11 |
49,209,048 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2511:Or2y1b
|
UTSW |
11 |
49,209,048 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4942:Or2y1b
|
UTSW |
11 |
49,208,375 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R5080:Or2y1b
|
UTSW |
11 |
49,208,914 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5413:Or2y1b
|
UTSW |
11 |
49,209,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5843:Or2y1b
|
UTSW |
11 |
49,209,076 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6354:Or2y1b
|
UTSW |
11 |
49,208,465 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8005:Or2y1b
|
UTSW |
11 |
49,208,968 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8284:Or2y1b
|
UTSW |
11 |
49,209,002 (GRCm39) |
missense |
probably benign |
|
|
R8902:Or2y1b
|
UTSW |
11 |
49,209,206 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9003:Or2y1b
|
UTSW |
11 |
49,209,155 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9431:Or2y1b
|
UTSW |
11 |
49,208,459 (GRCm39) |
missense |
probably benign |
|
|
R9696:Or2y1b
|
UTSW |
11 |
49,208,390 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGGTCAAAGGCTATGGG -3'
(R):5'- AACAGGGTGCATGATGGTCG -3'
Sequencing Primer
(F):5'- GAACCTTCAATATCAGTTTGGGAGG -3'
(R):5'- CGTGTAGTGCAGTGGACGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation