Incidental Mutation 'IGL01022:Or51f1e'
| ID |
53702 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51f1e
|
| Ensembl Gene |
ENSMUSG00000078080 |
| Gene Name |
olfactory receptor family 51 subfamily F member 1E |
| Synonyms |
Olfr585, GA_x6K02T2PBJ9-5809085-5810035, MOR14-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
IGL01022
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102746950-102747906 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 102747077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 43
(L43R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000104881]
|
| AlphaFold |
E9PXW4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000104881
AA Change: L43R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100476
Gene: ENSMUSG00000078080
AA Change: L43R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
40 |
318 |
1.3e-109 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
45 |
315 |
5.9e-6 |
PFAM |
|
Pfam:7tm_1
|
50 |
300 |
7.9e-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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts14 |
A |
G |
10: 61,038,721 (GRCm39) |
S927P |
probably benign |
Het |
| Arfgef1 |
G |
T |
1: 10,244,301 (GRCm39) |
F987L |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,601,344 (GRCm39) |
N191K |
possibly damaging |
Het |
| Bmpr1b |
A |
T |
3: 141,577,099 (GRCm39) |
C71S |
probably damaging |
Het |
| Bod1l |
A |
T |
5: 41,951,652 (GRCm39) |
S2920T |
probably damaging |
Het |
| Camta2 |
G |
A |
11: 70,562,308 (GRCm39) |
R1030* |
probably null |
Het |
| Chd8 |
T |
C |
14: 52,474,450 (GRCm39) |
T194A |
probably benign |
Het |
| Col9a3 |
A |
T |
2: 180,258,227 (GRCm39) |
I549F |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,077,568 (GRCm39) |
N775S |
probably benign |
Het |
| Gm10800 |
T |
A |
2: 98,497,576 (GRCm39) |
|
probably benign |
Het |
| Gm5117 |
T |
A |
8: 32,228,515 (GRCm39) |
|
noncoding transcript |
Het |
| Hap1 |
A |
G |
11: 100,240,374 (GRCm39) |
L112P |
probably benign |
Het |
| Hcls1 |
C |
A |
16: 36,771,488 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,507,699 (GRCm39) |
|
probably benign |
Het |
| Lct |
T |
A |
1: 128,228,596 (GRCm39) |
I966L |
probably benign |
Het |
| Myo1h |
A |
T |
5: 114,474,361 (GRCm39) |
I451F |
possibly damaging |
Het |
| Notch4 |
G |
A |
17: 34,784,671 (GRCm39) |
C128Y |
probably damaging |
Het |
| Oca2 |
T |
A |
7: 55,974,504 (GRCm39) |
N484K |
probably damaging |
Het |
| Or7a42 |
A |
T |
10: 78,791,188 (GRCm39) |
I50F |
possibly damaging |
Het |
| Rprd2 |
T |
A |
3: 95,671,066 (GRCm39) |
R1362* |
probably null |
Het |
| Sema3a |
C |
T |
5: 13,523,433 (GRCm39) |
T134I |
probably damaging |
Het |
| Sfta2 |
C |
T |
17: 35,961,336 (GRCm39) |
T74I |
possibly damaging |
Het |
| Slfn10-ps |
C |
T |
11: 82,926,353 (GRCm39) |
|
noncoding transcript |
Het |
| Spag11a |
A |
T |
8: 19,208,005 (GRCm39) |
Q15H |
probably damaging |
Het |
| Tbc1d22a |
G |
A |
15: 86,185,756 (GRCm39) |
D282N |
probably damaging |
Het |
| Tmbim6 |
G |
A |
15: 99,300,003 (GRCm39) |
V40M |
possibly damaging |
Het |
| Tmem259 |
A |
G |
10: 79,819,808 (GRCm39) |
V22A |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,679,377 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,424,610 (GRCm39) |
D2002G |
probably benign |
Het |
|
| Other mutations in Or51f1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02866:Or51f1e
|
APN |
7 |
102,747,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4548:Or51f1e
|
UTSW |
7 |
102,747,516 (GRCm39) |
nonsense |
probably null |
|
|
FR4976:Or51f1e
|
UTSW |
7 |
102,747,516 (GRCm39) |
small insertion |
probably benign |
|
|
R0893:Or51f1e
|
UTSW |
7 |
102,747,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0926:Or51f1e
|
UTSW |
7 |
102,747,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1486:Or51f1e
|
UTSW |
7 |
102,747,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2031:Or51f1e
|
UTSW |
7 |
102,747,371 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3852:Or51f1e
|
UTSW |
7 |
102,747,391 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4849:Or51f1e
|
UTSW |
7 |
102,747,526 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5241:Or51f1e
|
UTSW |
7 |
102,747,524 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5668:Or51f1e
|
UTSW |
7 |
102,747,103 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5841:Or51f1e
|
UTSW |
7 |
102,747,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6902:Or51f1e
|
UTSW |
7 |
102,747,562 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7943:Or51f1e
|
UTSW |
7 |
102,747,153 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8265:Or51f1e
|
UTSW |
7 |
102,747,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Or51f1e
|
UTSW |
7 |
102,747,251 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9345:Or51f1e
|
UTSW |
7 |
102,747,713 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9376:Or51f1e
|
UTSW |
7 |
102,746,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9702:Or51f1e
|
UTSW |
7 |
102,747,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF003:Or51f1e
|
UTSW |
7 |
102,747,513 (GRCm39) |
nonsense |
probably null |
|
|
RF003:Or51f1e
|
UTSW |
7 |
102,747,512 (GRCm39) |
|
|
|
|
RF004:Or51f1e
|
UTSW |
7 |
102,747,516 (GRCm39) |
nonsense |
probably null |
|
|
RF004:Or51f1e
|
UTSW |
7 |
102,747,515 (GRCm39) |
small insertion |
probably benign |
|
|
RF004:Or51f1e
|
UTSW |
7 |
102,747,512 (GRCm39) |
|
|
|
|
| Posted On |
2013-06-28 |
Incidental Mutation