Incidental Mutation 'IGL01772:Or52z13'
| ID |
153688 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or52z13
|
| Ensembl Gene |
ENSMUSG00000073945 |
| Gene Name |
olfactory receptor family 52 subfamily Z member 13 |
| Synonyms |
MOR31-9, GA_x6K02T2PBJ9-6320148-6321104, Olfr618 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL01772
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103246525-103247481 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103247120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 199
(I199N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151147
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098197]
[ENSMUST00000214883]
[ENSMUST00000215732]
|
| AlphaFold |
K7N6B3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098197
AA Change: I199N
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000095799
Gene: ENSMUSG00000073945
AA Change: I199N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
314 |
3.1e-109 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
311 |
6.3e-12 |
PFAM |
|
Pfam:7tm_1
|
44 |
296 |
8.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214883
AA Change: I199N
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215732
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
C |
T |
11: 58,313,710 (GRCm39) |
P113S |
probably benign |
Het |
| Ano2 |
T |
C |
6: 126,013,821 (GRCm39) |
Y881H |
probably damaging |
Het |
| Coro2b |
G |
T |
9: 62,333,090 (GRCm39) |
P131T |
probably damaging |
Het |
| Glra3 |
A |
G |
8: 56,542,090 (GRCm39) |
I278V |
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,507,890 (GRCm39) |
D392G |
probably benign |
Het |
| Ifrd2 |
A |
G |
9: 107,469,331 (GRCm39) |
S360G |
probably benign |
Het |
| Kdelr3 |
A |
T |
15: 79,407,121 (GRCm39) |
|
probably benign |
Het |
| Mtdh |
T |
A |
15: 34,140,027 (GRCm39) |
S345R |
probably damaging |
Het |
| Mtrex |
A |
G |
13: 113,027,859 (GRCm39) |
F667S |
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,240,173 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,281,075 (GRCm39) |
V110D |
probably damaging |
Het |
| Nlk |
T |
A |
11: 78,480,201 (GRCm39) |
H256L |
probably damaging |
Het |
| Or52w1 |
A |
T |
7: 105,017,641 (GRCm39) |
D36V |
probably benign |
Het |
| Or8c16 |
A |
T |
9: 38,130,905 (GRCm39) |
Y262F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,946,637 (GRCm39) |
|
probably benign |
Het |
| Ptprn |
A |
G |
1: 75,228,914 (GRCm39) |
Y834H |
probably damaging |
Het |
| Rbfox3 |
G |
T |
11: 118,387,797 (GRCm39) |
A241E |
probably damaging |
Het |
| Tarbp1 |
G |
A |
8: 127,173,970 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,598,055 (GRCm39) |
D19619E |
probably damaging |
Het |
| Unc13d |
C |
A |
11: 115,967,358 (GRCm39) |
E45D |
possibly damaging |
Het |
| Vil1 |
A |
G |
1: 74,454,278 (GRCm39) |
I14V |
probably benign |
Het |
|
| Other mutations in Or52z13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Or52z13
|
APN |
7 |
103,247,369 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL00963:Or52z13
|
APN |
7 |
103,246,844 (GRCm39) |
splice site |
probably null |
|
|
IGL02014:Or52z13
|
APN |
7 |
103,246,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03409:Or52z13
|
APN |
7 |
103,246,574 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0087:Or52z13
|
UTSW |
7 |
103,246,928 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0831:Or52z13
|
UTSW |
7 |
103,247,338 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1779:Or52z13
|
UTSW |
7 |
103,247,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1909:Or52z13
|
UTSW |
7 |
103,246,550 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5903:Or52z13
|
UTSW |
7 |
103,247,128 (GRCm39) |
nonsense |
probably null |
|
|
R5952:Or52z13
|
UTSW |
7 |
103,247,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Or52z13
|
UTSW |
7 |
103,247,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7264:Or52z13
|
UTSW |
7 |
103,246,955 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7573:Or52z13
|
UTSW |
7 |
103,246,735 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7870:Or52z13
|
UTSW |
7 |
103,247,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8394:Or52z13
|
UTSW |
7 |
103,247,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8833:Or52z13
|
UTSW |
7 |
103,247,444 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9563:Or52z13
|
UTSW |
7 |
103,247,225 (GRCm39) |
missense |
probably benign |
|
|
R9601:Or52z13
|
UTSW |
7 |
103,246,598 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Posted On |
2014-02-04 |
Incidental Mutation