Incidental Mutation 'R6016:Or2bd2'
| ID |
478596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2bd2
|
| Ensembl Gene |
ENSMUSG00000090824 |
| Gene Name |
olfactory receptor family 2 subfamily BD member 2 |
| Synonyms |
GA_x6K02T2QGBW-3169916-3170881, MOR124-1, Olfr1344, 4930415J05Rik |
| MMRRC Submission |
043255-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R6016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
6442901-6443866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6443613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 238
(H238L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054781]
[ENSMUST00000168341]
[ENSMUST00000218906]
|
| AlphaFold |
Q7TQV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054781
|
| SMART Domains |
Protein: ENSMUSP00000050428
Gene: ENSMUSG00000045929
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168341
AA Change: H238L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130328
Gene: ENSMUSG00000090824
AA Change: H238L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
3e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
224 |
1.9e-7 |
PFAM |
|
Pfam:7tm_1
|
43 |
295 |
1.5e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218906
AA Change: H238L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol9b |
T |
C |
15: 77,620,058 (GRCm39) |
S285P |
probably damaging |
Het |
| Casz1 |
C |
A |
4: 149,019,041 (GRCm39) |
N447K |
probably damaging |
Het |
| Cltb |
T |
C |
13: 54,754,480 (GRCm39) |
T71A |
possibly damaging |
Het |
| Dcaf12 |
A |
G |
4: 41,313,267 (GRCm39) |
F93L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,328,030 (GRCm39) |
Y2135H |
probably damaging |
Het |
| Entpd2 |
C |
T |
2: 25,288,568 (GRCm39) |
R191W |
probably damaging |
Het |
| Gm17067 |
G |
T |
7: 42,357,654 (GRCm39) |
P283T |
probably benign |
Het |
| Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
| Gne |
T |
C |
4: 44,039,063 (GRCm39) |
E532G |
probably damaging |
Het |
| Gsdmc3 |
T |
G |
15: 63,740,261 (GRCm39) |
D86A |
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 121,099,922 (GRCm39) |
H256R |
probably damaging |
Het |
| Il19 |
T |
A |
1: 130,863,718 (GRCm39) |
D16V |
probably damaging |
Het |
| Lats2 |
A |
T |
14: 57,971,632 (GRCm39) |
N14K |
probably damaging |
Het |
| Mill2 |
G |
T |
7: 18,590,373 (GRCm39) |
S151I |
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,390,227 (GRCm39) |
R392H |
probably damaging |
Het |
| Nop56 |
T |
C |
2: 130,118,545 (GRCm39) |
|
probably null |
Het |
| Or14j8 |
A |
T |
17: 38,262,967 (GRCm39) |
V316D |
probably benign |
Het |
| Or5p5 |
A |
T |
7: 107,414,219 (GRCm39) |
I143F |
probably benign |
Het |
| Pde1a |
T |
C |
2: 79,695,406 (GRCm39) |
R446G |
probably benign |
Het |
| Pes1 |
T |
A |
11: 3,928,004 (GRCm39) |
M552K |
possibly damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,045,225 (GRCm39) |
T1074S |
possibly damaging |
Het |
| Psg23 |
G |
T |
7: 18,346,112 (GRCm39) |
H194Q |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,694,685 (GRCm39) |
V116A |
probably damaging |
Het |
| Shkbp1 |
A |
G |
7: 27,053,826 (GRCm39) |
V124A |
possibly damaging |
Het |
| Slc38a8 |
A |
T |
8: 120,221,044 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
A |
G |
14: 110,987,958 (GRCm39) |
V583A |
probably benign |
Het |
| Sptbn5 |
G |
T |
2: 119,880,573 (GRCm39) |
|
noncoding transcript |
Het |
| Stab1 |
A |
T |
14: 30,880,950 (GRCm39) |
I614N |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,983,148 (GRCm39) |
T246A |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,882,734 (GRCm39) |
L187P |
probably damaging |
Het |
| Vmn1r157 |
A |
G |
7: 22,461,272 (GRCm39) |
R51G |
possibly damaging |
Het |
| Vmn2r68 |
A |
T |
7: 84,871,453 (GRCm39) |
I610K |
probably damaging |
Het |
|
| Other mutations in Or2bd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02217:Or2bd2
|
APN |
7 |
6,443,244 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02689:Or2bd2
|
APN |
7 |
6,443,574 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02935:Or2bd2
|
APN |
7 |
6,443,753 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0100:Or2bd2
|
UTSW |
7 |
6,443,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Or2bd2
|
UTSW |
7 |
6,443,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0108:Or2bd2
|
UTSW |
7 |
6,443,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4041:Or2bd2
|
UTSW |
7 |
6,443,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4247:Or2bd2
|
UTSW |
7 |
6,441,901 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5275:Or2bd2
|
UTSW |
7 |
6,443,015 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5475:Or2bd2
|
UTSW |
7 |
6,443,169 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6048:Or2bd2
|
UTSW |
7 |
6,443,354 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6541:Or2bd2
|
UTSW |
7 |
6,443,492 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7945:Or2bd2
|
UTSW |
7 |
6,443,354 (GRCm39) |
missense |
probably benign |
|
|
R8134:Or2bd2
|
UTSW |
7 |
6,441,922 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R8893:Or2bd2
|
UTSW |
7 |
6,443,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Or2bd2
|
UTSW |
7 |
6,442,020 (GRCm39) |
splice site |
probably benign |
|
|
R9211:Or2bd2
|
UTSW |
7 |
6,443,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9639:Or2bd2
|
UTSW |
7 |
6,443,290 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0060:Or2bd2
|
UTSW |
7 |
6,443,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or2bd2
|
UTSW |
7 |
6,443,820 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTCTGTACCCAATGCGG -3'
(R):5'- CTCACGGTTTCGAAGGCTGTAG -3'
Sequencing Primer
(F):5'- AGCGGTGGACCACTTCTTCTG -3'
(R):5'- ACGGTTTCGAAGGCTGTAGATGAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation