Incidental Mutation 'IGL02337:Or4k77'
| ID |
288884 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4k77
|
| Ensembl Gene |
ENSMUSG00000109322 |
| Gene Name |
olfactory receptor family 4 subfamily K member 77 |
| Synonyms |
MOR248-19, Olfr1283, GA_x6K02T2Q125-72420217-72421134 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.486)
|
| Stock # |
IGL02337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
111198979-111199896 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 111199496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 173
(V173G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090328]
[ENSMUST00000204064]
[ENSMUST00000216637]
|
| AlphaFold |
Q7TQY4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090328
AA Change: V173G
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087800
Gene: ENSMUSG00000109322
AA Change: V173G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
3.6e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
3.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204064
AA Change: V173G
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000145495
Gene: ENSMUSG00000109322
AA Change: V173G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
298 |
2.1e-39 |
PFAM |
|
Pfam:7tm_1
|
40 |
286 |
7.8e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216637
AA Change: V173G
PolyPhen 2
Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
|
| 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 |
|---|
| Aaas |
A |
G |
15: 102,247,662 (GRCm39) |
V403A |
probably benign |
Het |
| Afm |
A |
G |
5: 90,695,770 (GRCm39) |
T426A |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,235,451 (GRCm39) |
D697G |
probably benign |
Het |
| Barhl1 |
G |
T |
2: 28,801,431 (GRCm39) |
S204R |
probably damaging |
Het |
| Ceacam11 |
T |
A |
7: 17,707,550 (GRCm39) |
S111R |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,926,037 (GRCm39) |
|
probably benign |
Het |
| Cnot11 |
G |
A |
1: 39,583,964 (GRCm39) |
|
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,916,957 (GRCm39) |
T284A |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,040,253 (GRCm39) |
|
probably null |
Het |
| Fsip1 |
T |
A |
2: 118,082,195 (GRCm39) |
K80* |
probably null |
Het |
| Gaa |
G |
T |
11: 119,168,429 (GRCm39) |
G220C |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,244 (GRCm39) |
S53G |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,052,133 (GRCm39) |
M321K |
possibly damaging |
Het |
| Hgfac |
C |
A |
5: 35,199,722 (GRCm39) |
T68K |
probably benign |
Het |
| Hmgxb4 |
C |
T |
8: 75,726,259 (GRCm39) |
R35W |
probably damaging |
Het |
| Itfg2 |
T |
C |
6: 128,390,533 (GRCm39) |
D184G |
probably benign |
Het |
| Kirrel1 |
G |
A |
3: 86,996,519 (GRCm39) |
T360I |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,412,756 (GRCm39) |
Q1240R |
possibly damaging |
Het |
| Lrrk1 |
G |
T |
7: 65,929,164 (GRCm39) |
T1156N |
possibly damaging |
Het |
| Olfm1 |
A |
G |
2: 28,119,697 (GRCm39) |
Y429C |
probably damaging |
Het |
| Or5t5 |
T |
A |
2: 86,616,518 (GRCm39) |
M148K |
probably damaging |
Het |
| Pafah1b2 |
C |
T |
9: 45,884,287 (GRCm39) |
V122I |
probably benign |
Het |
| Pdcd1 |
T |
C |
1: 93,968,582 (GRCm39) |
T151A |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,892,079 (GRCm39) |
S697G |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,177,697 (GRCm39) |
F96I |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,127,672 (GRCm39) |
D176G |
probably benign |
Het |
| Tarbp2 |
C |
A |
15: 102,430,428 (GRCm39) |
Q148K |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,864,889 (GRCm39) |
R329G |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,122,705 (GRCm39) |
|
probably benign |
Het |
| Vmn1r73 |
C |
A |
7: 11,490,640 (GRCm39) |
P153T |
possibly damaging |
Het |
| Zeb2 |
G |
A |
2: 44,887,242 (GRCm39) |
T605I |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,512 (GRCm39) |
S897P |
probably benign |
Het |
|
| Other mutations in Or4k77 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02716:Or4k77
|
APN |
2 |
111,199,126 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0090:Or4k77
|
UTSW |
2 |
111,199,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Or4k77
|
UTSW |
2 |
111,199,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0371:Or4k77
|
UTSW |
2 |
111,199,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0417:Or4k77
|
UTSW |
2 |
111,199,450 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1673:Or4k77
|
UTSW |
2 |
111,199,552 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1970:Or4k77
|
UTSW |
2 |
111,199,421 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2069:Or4k77
|
UTSW |
2 |
111,199,440 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3897:Or4k77
|
UTSW |
2 |
111,199,106 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4408:Or4k77
|
UTSW |
2 |
111,199,625 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5397:Or4k77
|
UTSW |
2 |
111,199,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5888:Or4k77
|
UTSW |
2 |
111,199,088 (GRCm39) |
missense |
probably benign |
|
|
R6281:Or4k77
|
UTSW |
2 |
111,199,894 (GRCm39) |
makesense |
probably null |
|
|
R6323:Or4k77
|
UTSW |
2 |
111,199,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6801:Or4k77
|
UTSW |
2 |
111,199,394 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7219:Or4k77
|
UTSW |
2 |
111,199,882 (GRCm39) |
missense |
probably benign |
|
|
R7271:Or4k77
|
UTSW |
2 |
111,199,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7438:Or4k77
|
UTSW |
2 |
111,199,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7761:Or4k77
|
UTSW |
2 |
111,199,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7792:Or4k77
|
UTSW |
2 |
111,199,748 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-04-16 |
Incidental Mutation