Incidental Mutation 'IGL02878:Or7a41'
| ID |
362697 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or7a41
|
| Ensembl Gene |
ENSMUSG00000060205 |
| Gene Name |
olfactory receptor family 7 subfamily A member 41 |
| Synonyms |
MOR139-3, Olfr57, GA_x6K02T2QGN0-2777431-2776472, IF12 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL02878
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
78870557-78871636 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 78871392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 254
(C254F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144814
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082244]
[ENSMUST00000203906]
|
| AlphaFold |
Q8VGU7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082244
AA Change: C254F
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080872
Gene: ENSMUSG00000060205
AA Change: C254F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
308 |
2.2e-49 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
6e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203906
AA Change: C254F
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000144814
Gene: ENSMUSG00000060205
AA Change: C254F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
32 |
308 |
2e-49 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
1.9e-23 |
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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,029,155 (GRCm39) |
D801G |
probably benign |
Het |
| Abce1 |
T |
C |
8: 80,429,636 (GRCm39) |
H95R |
possibly damaging |
Het |
| Axl |
T |
A |
7: 25,458,302 (GRCm39) |
M818L |
probably damaging |
Het |
| Cckbr |
C |
T |
7: 105,083,238 (GRCm39) |
A147V |
probably damaging |
Het |
| Cdc40 |
T |
C |
10: 40,719,118 (GRCm39) |
D337G |
probably damaging |
Het |
| Cep70 |
T |
C |
9: 99,163,160 (GRCm39) |
|
probably benign |
Het |
| Cpeb1 |
C |
T |
7: 81,007,074 (GRCm39) |
V318I |
probably damaging |
Het |
| Crlf1 |
G |
A |
8: 70,956,290 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,009,570 (GRCm39) |
D3740E |
probably benign |
Het |
| Dnajc28 |
C |
T |
16: 91,413,329 (GRCm39) |
R329Q |
possibly damaging |
Het |
| Ehmt2 |
T |
C |
17: 35,129,743 (GRCm39) |
Y946H |
probably damaging |
Het |
| Gapdhs |
C |
T |
7: 30,429,304 (GRCm39) |
|
probably benign |
Het |
| Gpr61 |
A |
T |
3: 108,057,344 (GRCm39) |
L439H |
probably damaging |
Het |
| Klf9 |
G |
T |
19: 23,119,633 (GRCm39) |
|
probably benign |
Het |
| Krt73 |
T |
C |
15: 101,707,261 (GRCm39) |
Y309C |
probably damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,912,311 (GRCm39) |
M1750V |
probably benign |
Het |
| Mc1r |
G |
T |
8: 124,134,369 (GRCm39) |
G41C |
probably damaging |
Het |
| Mecr |
C |
A |
4: 131,582,019 (GRCm39) |
A133E |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,842,896 (GRCm39) |
N1511S |
probably benign |
Het |
| Mrpl13 |
A |
T |
15: 55,403,595 (GRCm39) |
L106* |
probably null |
Het |
| Mrpl48 |
A |
T |
7: 100,223,720 (GRCm39) |
V1E |
possibly damaging |
Het |
| Myo1c |
T |
A |
11: 75,559,859 (GRCm39) |
W683R |
possibly damaging |
Het |
| Myo9a |
G |
A |
9: 59,815,583 (GRCm39) |
|
probably null |
Het |
| Myrfl |
A |
T |
10: 116,613,310 (GRCm39) |
I831K |
possibly damaging |
Het |
| Neurl4 |
T |
A |
11: 69,797,657 (GRCm39) |
Y671N |
probably damaging |
Het |
| Opalin |
A |
T |
19: 41,056,108 (GRCm39) |
D62E |
probably benign |
Het |
| Or1j18 |
A |
T |
2: 36,624,489 (GRCm39) |
D52V |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,743,076 (GRCm39) |
F768L |
probably damaging |
Het |
| Pde4b |
T |
A |
4: 102,458,836 (GRCm39) |
N497K |
probably damaging |
Het |
| Plcl2 |
T |
A |
17: 50,914,383 (GRCm39) |
L464Q |
probably damaging |
Het |
| Rfc3 |
A |
G |
5: 151,566,379 (GRCm39) |
*357R |
probably null |
Het |
| Ryr2 |
A |
G |
13: 11,933,205 (GRCm39) |
S89P |
probably benign |
Het |
| Sema3b |
C |
T |
9: 107,478,192 (GRCm39) |
V398I |
probably damaging |
Het |
| Setd3 |
A |
G |
12: 108,074,814 (GRCm39) |
|
probably null |
Het |
| Sgsh |
T |
C |
11: 119,237,384 (GRCm39) |
D410G |
probably damaging |
Het |
| Slc9a3 |
G |
T |
13: 74,313,476 (GRCm39) |
E730* |
probably null |
Het |
| Sptb |
A |
G |
12: 76,667,527 (GRCm39) |
S857P |
probably benign |
Het |
| Tmem132c |
T |
C |
5: 127,640,154 (GRCm39) |
L775P |
probably damaging |
Het |
| Togaram1 |
T |
C |
12: 65,039,400 (GRCm39) |
V1158A |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,607,222 (GRCm39) |
F17934L |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,542,778 (GRCm39) |
|
probably null |
Het |
| Ydjc |
A |
G |
16: 16,965,469 (GRCm39) |
E111G |
possibly damaging |
Het |
| Zp3r |
T |
A |
1: 130,510,588 (GRCm39) |
H443L |
probably benign |
Het |
|
| Other mutations in Or7a41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01347:Or7a41
|
APN |
10 |
78,871,445 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02230:Or7a41
|
APN |
10 |
78,870,876 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02283:Or7a41
|
APN |
10 |
78,871,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02975:Or7a41
|
APN |
10 |
78,870,867 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03259:Or7a41
|
APN |
10 |
78,871,234 (GRCm39) |
nonsense |
probably null |
|
|
R1366:Or7a41
|
UTSW |
10 |
78,870,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1438:Or7a41
|
UTSW |
10 |
78,871,122 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1528:Or7a41
|
UTSW |
10 |
78,871,398 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1601:Or7a41
|
UTSW |
10 |
78,871,338 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2032:Or7a41
|
UTSW |
10 |
78,871,163 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2112:Or7a41
|
UTSW |
10 |
78,871,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2382:Or7a41
|
UTSW |
10 |
78,870,968 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2967:Or7a41
|
UTSW |
10 |
78,870,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Or7a41
|
UTSW |
10 |
78,871,014 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3940:Or7a41
|
UTSW |
10 |
78,871,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Or7a41
|
UTSW |
10 |
78,871,244 (GRCm39) |
missense |
probably benign |
|
|
R5944:Or7a41
|
UTSW |
10 |
78,871,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6563:Or7a41
|
UTSW |
10 |
78,871,051 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6614:Or7a41
|
UTSW |
10 |
78,870,925 (GRCm39) |
nonsense |
probably null |
|
|
R7181:Or7a41
|
UTSW |
10 |
78,871,287 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7639:Or7a41
|
UTSW |
10 |
78,871,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9427:Or7a41
|
UTSW |
10 |
78,871,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9508:Or7a41
|
UTSW |
10 |
78,870,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Or7a41
|
UTSW |
10 |
78,871,230 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9681:Or7a41
|
UTSW |
10 |
78,871,577 (GRCm39) |
missense |
probably benign |
|
|
R9767:Or7a41
|
UTSW |
10 |
78,870,765 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Posted On |
2015-12-18 |
Incidental Mutation