Incidental Mutation 'R1233:Or1e32'
| ID |
152359 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1e32
|
| Ensembl Gene |
ENSMUSG00000061984 |
| Gene Name |
olfactory receptor family 1 subfamily E member 32 |
| Synonyms |
GA_x6K02T2P1NL-3966976-3966038, Olfr392, MOR135-9 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1233 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
73704968-73707703 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73705176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 244
(H244L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123649
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118463]
[ENSMUST00000144724]
|
| AlphaFold |
Q7TRX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118463
AA Change: H244L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113118
Gene: ENSMUSG00000061984
AA Change: H244L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.5e-58 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
2.6e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.2e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144724
AA Change: H244L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123649
Gene: ENSMUSG00000061984
AA Change: H244L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
116 |
2e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.9%
- 20x: 90.9%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
A |
G |
5: 137,288,419 (GRCm39) |
|
probably null |
Het |
| Aopep |
T |
A |
13: 63,347,334 (GRCm39) |
M631K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,254,315 (GRCm39) |
D773G |
probably damaging |
Het |
| Arhgap45 |
T |
C |
10: 79,863,416 (GRCm39) |
I753T |
probably damaging |
Het |
| Cd274 |
T |
A |
19: 29,351,301 (GRCm39) |
|
probably null |
Het |
| Cdh16 |
C |
T |
8: 105,345,114 (GRCm39) |
A392T |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 48,536,927 (GRCm39) |
T92A |
probably damaging |
Het |
| Exosc8 |
A |
T |
3: 54,639,419 (GRCm39) |
C129S |
probably benign |
Het |
| Fat3 |
T |
G |
9: 15,834,041 (GRCm39) |
I4184L |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,455,199 (GRCm39) |
Y2126H |
probably damaging |
Het |
| Fsbp |
T |
C |
4: 11,580,053 (GRCm39) |
M107T |
possibly damaging |
Het |
| Gper1 |
A |
G |
5: 139,412,357 (GRCm39) |
Y234C |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,624,777 (GRCm39) |
S1043G |
probably benign |
Het |
| Kif2a |
T |
A |
13: 107,123,840 (GRCm39) |
K137N |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,239,241 (GRCm39) |
F1332S |
probably damaging |
Het |
| Nme8 |
T |
A |
13: 19,844,682 (GRCm39) |
M375L |
possibly damaging |
Het |
| Per1 |
T |
C |
11: 68,993,037 (GRCm39) |
L298P |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,482,412 (GRCm39) |
N650S |
probably benign |
Het |
| Ppara |
T |
C |
15: 85,682,222 (GRCm39) |
V306A |
probably damaging |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Repin1 |
A |
G |
6: 48,574,768 (GRCm39) |
T566A |
possibly damaging |
Het |
| Rhot2 |
T |
A |
17: 26,063,071 (GRCm39) |
D57V |
probably damaging |
Het |
| Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
| Slc5a8 |
C |
A |
10: 88,754,304 (GRCm39) |
P435H |
probably damaging |
Het |
| Stpg1 |
G |
A |
4: 135,252,740 (GRCm39) |
A164T |
probably benign |
Het |
| Tll2 |
G |
T |
19: 41,084,423 (GRCm39) |
A668D |
possibly damaging |
Het |
| Txnl1 |
T |
A |
18: 63,808,539 (GRCm39) |
M180L |
probably benign |
Het |
| Vopp1 |
A |
C |
6: 57,766,980 (GRCm39) |
L32R |
probably damaging |
Het |
| Wdr95 |
C |
T |
5: 149,505,323 (GRCm39) |
T226I |
possibly damaging |
Het |
| Wdr95 |
C |
A |
5: 149,518,829 (GRCm39) |
Q557K |
probably benign |
Het |
|
| Other mutations in Or1e32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01520:Or1e32
|
APN |
11 |
73,705,612 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02976:Or1e32
|
APN |
11 |
73,705,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03344:Or1e32
|
APN |
11 |
73,705,003 (GRCm39) |
missense |
probably benign |
0.21 |
|
BB007:Or1e32
|
UTSW |
11 |
73,705,926 (GRCm39) |
start gained |
probably benign |
|
|
BB017:Or1e32
|
UTSW |
11 |
73,705,926 (GRCm39) |
start gained |
probably benign |
|
|
R0196:Or1e32
|
UTSW |
11 |
73,705,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0347:Or1e32
|
UTSW |
11 |
73,705,137 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0594:Or1e32
|
UTSW |
11 |
73,705,443 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0940:Or1e32
|
UTSW |
11 |
73,705,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1300:Or1e32
|
UTSW |
11 |
73,705,072 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1490:Or1e32
|
UTSW |
11 |
73,705,197 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3111:Or1e32
|
UTSW |
11 |
73,705,012 (GRCm39) |
missense |
probably benign |
|
|
R4827:Or1e32
|
UTSW |
11 |
73,705,547 (GRCm39) |
nonsense |
probably null |
|
|
R4852:Or1e32
|
UTSW |
11 |
73,705,074 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4992:Or1e32
|
UTSW |
11 |
73,705,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Or1e32
|
UTSW |
11 |
73,705,650 (GRCm39) |
missense |
probably benign |
|
|
R7201:Or1e32
|
UTSW |
11 |
73,705,167 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7310:Or1e32
|
UTSW |
11 |
73,705,112 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7930:Or1e32
|
UTSW |
11 |
73,705,926 (GRCm39) |
start gained |
probably benign |
|
|
R8471:Or1e32
|
UTSW |
11 |
73,705,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8722:Or1e32
|
UTSW |
11 |
73,705,882 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8866:Or1e32
|
UTSW |
11 |
73,705,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9415:Or1e32
|
UTSW |
11 |
73,705,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0021:Or1e32
|
UTSW |
11 |
73,705,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCCCAAGTGCTACCATTACAGAGAG -3'
(R):5'- GACTATATTCCATGCCCTGCTGCATAC -3'
Sequencing Primer
(F):5'- TTGAGCATGGGAGTCACCAA -3'
(R):5'- ATACCCTACTCACGGCTAGATTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation