Incidental Mutation 'IGL02898:Or1e21'
ID |
363464 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or1e21
|
Ensembl Gene |
ENSMUSG00000072709 |
Gene Name |
olfactory receptor family 1 subfamily E member 21 |
Synonyms |
MOR135-1, GA_x6K02T2P1NL-3613021-3612086, Olfr380 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02898
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
73344101-73345036 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73344561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 159
(H159L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075532]
[ENSMUST00000121209]
[ENSMUST00000127789]
|
AlphaFold |
Q8VGT3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075532
AA Change: H159L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074971 Gene: ENSMUSG00000072709 AA Change: H159L
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
41 |
290 |
2e-35 |
PFAM |
Pfam:7tm_4
|
139 |
283 |
7.9e-42 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121209
AA Change: H159L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112462 Gene: ENSMUSG00000072709 AA Change: H159L
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
Pfam:7tm_4
|
31 |
308 |
6.7e-56 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
6.2e-27 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000127789
AA Change: H159L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116228 Gene: ENSMUSG00000072709 AA Change: H159L
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srsx
|
38 |
231 |
7.3e-8 |
PFAM |
Pfam:7tm_1
|
44 |
240 |
2.5e-33 |
PFAM |
Pfam:7tm_4
|
142 |
249 |
4.5e-35 |
PFAM |
|
Coding Region Coverage |
|
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 |
Adamtsl5 |
A |
G |
10: 80,178,065 (GRCm39) |
|
probably benign |
Het |
Brd3 |
A |
G |
2: 27,349,753 (GRCm39) |
S267P |
possibly damaging |
Het |
Btaf1 |
A |
G |
19: 36,946,468 (GRCm39) |
T425A |
probably benign |
Het |
Caskin1 |
A |
T |
17: 24,721,383 (GRCm39) |
E544D |
probably benign |
Het |
Col20a1 |
C |
T |
2: 180,630,905 (GRCm39) |
Q58* |
probably null |
Het |
Eif2ak1 |
G |
A |
5: 143,826,270 (GRCm39) |
V428I |
probably damaging |
Het |
Fez2 |
A |
G |
17: 78,692,184 (GRCm39) |
I345T |
probably benign |
Het |
Focad |
A |
T |
4: 88,310,234 (GRCm39) |
M1388L |
probably benign |
Het |
Gfer |
T |
C |
17: 24,914,921 (GRCm39) |
R41G |
probably benign |
Het |
Gm9956 |
C |
T |
10: 56,621,350 (GRCm39) |
S4L |
unknown |
Het |
Krtap6-1 |
G |
A |
16: 88,828,643 (GRCm39) |
G13D |
unknown |
Het |
Megf8 |
A |
G |
7: 25,045,933 (GRCm39) |
E1492G |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,221,197 (GRCm39) |
I909V |
probably damaging |
Het |
Or11g25 |
T |
A |
14: 50,723,643 (GRCm39) |
S243T |
probably damaging |
Het |
Otog |
A |
G |
7: 45,959,562 (GRCm39) |
E717G |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,527,605 (GRCm39) |
I319M |
probably benign |
Het |
Piwil4 |
A |
T |
9: 14,617,583 (GRCm39) |
|
probably benign |
Het |
Plekho1 |
T |
A |
3: 95,899,493 (GRCm39) |
H100L |
probably damaging |
Het |
Prr30 |
T |
G |
14: 101,435,917 (GRCm39) |
D215A |
probably benign |
Het |
Prss52 |
C |
T |
14: 64,351,115 (GRCm39) |
A300V |
possibly damaging |
Het |
Ralgps2 |
C |
A |
1: 156,645,314 (GRCm39) |
K514N |
probably benign |
Het |
Robo4 |
T |
C |
9: 37,319,472 (GRCm39) |
I463T |
probably damaging |
Het |
Sars1 |
A |
T |
3: 108,336,579 (GRCm39) |
F268Y |
probably damaging |
Het |
Sidt1 |
C |
T |
16: 44,102,858 (GRCm39) |
R289Q |
possibly damaging |
Het |
Slco1a8 |
T |
A |
6: 141,940,023 (GRCm39) |
Y140F |
probably benign |
Het |
Slco2a1 |
T |
C |
9: 102,956,805 (GRCm39) |
V539A |
probably damaging |
Het |
Snrnp200 |
A |
G |
2: 127,058,676 (GRCm39) |
|
probably benign |
Het |
Spag17 |
A |
G |
3: 100,008,702 (GRCm39) |
D1944G |
probably benign |
Het |
Spata1 |
C |
T |
3: 146,181,094 (GRCm39) |
R288Q |
possibly damaging |
Het |
Tatdn3 |
T |
C |
1: 190,778,507 (GRCm39) |
*233W |
probably null |
Het |
Ttc3 |
T |
A |
16: 94,220,285 (GRCm39) |
V536E |
probably damaging |
Het |
V1rd19 |
A |
C |
7: 23,702,854 (GRCm39) |
T107P |
probably damaging |
Het |
|
Other mutations in Or1e21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01765:Or1e21
|
APN |
11 |
73,344,303 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02388:Or1e21
|
APN |
11 |
73,344,106 (GRCm39) |
missense |
probably benign |
0.19 |
R0356:Or1e21
|
UTSW |
11 |
73,344,906 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1447:Or1e21
|
UTSW |
11 |
73,344,700 (GRCm39) |
missense |
probably benign |
0.39 |
R1912:Or1e21
|
UTSW |
11 |
73,344,820 (GRCm39) |
missense |
probably damaging |
0.98 |
R4299:Or1e21
|
UTSW |
11 |
73,344,827 (GRCm39) |
missense |
probably damaging |
0.97 |
R4362:Or1e21
|
UTSW |
11 |
73,344,391 (GRCm39) |
missense |
probably benign |
|
R5686:Or1e21
|
UTSW |
11 |
73,344,677 (GRCm39) |
nonsense |
probably null |
|
R7049:Or1e21
|
UTSW |
11 |
73,344,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R7751:Or1e21
|
UTSW |
11 |
73,344,372 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8558:Or1e21
|
UTSW |
11 |
73,344,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R8736:Or1e21
|
UTSW |
11 |
73,344,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-12-18 |