Incidental Mutation 'IGL01149:Or4f4b'
| ID |
50643 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4f4b
|
| Ensembl Gene |
ENSMUSG00000061195 |
| Gene Name |
olfactory receptor family 4 subfamily F member 4B |
| Synonyms |
MOR245-6, GA_x6K02T2Q125-72534883-72535821, Olfr1289 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
IGL01149
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
111313777-111314673 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111314446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 224
(S224P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147119
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102551]
[ENSMUST00000104889]
[ENSMUST00000120021]
[ENSMUST00000207494]
[ENSMUST00000214816]
[ENSMUST00000217611]
|
| AlphaFold |
A0A288CFY5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102551
AA Change: S224P
PolyPhen 2
Score 0.590 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099611
Gene: ENSMUSG00000108908
AA Change: S224P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
17 |
289 |
6e-45 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
20 |
288 |
1.4e-7 |
PFAM |
|
Pfam:7tm_1
|
27 |
273 |
7e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000104889
|
| SMART Domains |
Protein: ENSMUSP00000100485
Gene: ENSMUSG00000044039
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
1.3e-43 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
2.5e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120021
AA Change: S252P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207494
AA Change: S224P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214816
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217611
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225425
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4632415L05Rik |
A |
G |
3: 19,949,276 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl4fm4 |
T |
C |
4: 144,400,349 (GRCm39) |
D143G |
probably benign |
Het |
| Adcy1 |
A |
C |
11: 7,087,385 (GRCm39) |
N420H |
probably damaging |
Het |
| Avp |
T |
C |
2: 130,422,593 (GRCm39) |
|
probably benign |
Het |
| B3galnt2 |
A |
T |
13: 14,155,270 (GRCm39) |
I216F |
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,902,137 (GRCm39) |
S465P |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,362,235 (GRCm39) |
|
probably benign |
Het |
| Cdcp2 |
T |
C |
4: 106,964,308 (GRCm39) |
F386S |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,515,937 (GRCm39) |
T372A |
probably damaging |
Het |
| Clspn |
T |
G |
4: 126,466,971 (GRCm39) |
M612R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,161,590 (GRCm39) |
C391R |
probably damaging |
Het |
| Dll4 |
T |
C |
2: 119,163,226 (GRCm39) |
Y616H |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,690,091 (GRCm39) |
|
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,302,232 (GRCm39) |
|
probably null |
Het |
| Fhod1 |
A |
G |
8: 106,074,439 (GRCm39) |
|
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,104 (GRCm39) |
R389G |
possibly damaging |
Het |
| Gm13941 |
T |
A |
2: 110,931,482 (GRCm39) |
E50V |
unknown |
Het |
| Kit |
C |
T |
5: 75,771,536 (GRCm39) |
T231M |
probably damaging |
Het |
| Neu3 |
T |
C |
7: 99,463,087 (GRCm39) |
H212R |
probably benign |
Het |
| Nup214 |
G |
T |
2: 31,924,712 (GRCm39) |
S1747I |
probably damaging |
Het |
| Or4q3 |
G |
T |
14: 50,583,071 (GRCm39) |
A276E |
probably damaging |
Het |
| Or8b12i |
G |
T |
9: 20,082,826 (GRCm39) |
L14I |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,830,491 (GRCm39) |
|
probably null |
Het |
| Slc26a10 |
G |
A |
10: 127,010,046 (GRCm39) |
|
probably benign |
Het |
| Slc7a6 |
T |
C |
8: 106,906,232 (GRCm39) |
S155P |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,260,767 (GRCm39) |
I173N |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tkfc |
A |
G |
19: 10,578,015 (GRCm39) |
L38P |
probably damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,015,264 (GRCm39) |
D324G |
probably null |
Het |
| Zfyve16 |
T |
C |
13: 92,644,791 (GRCm39) |
H1137R |
probably damaging |
Het |
|
| Other mutations in Or4f4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01682:Or4f4b
|
APN |
2 |
111,314,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02028:Or4f4b
|
APN |
2 |
111,313,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02731:Or4f4b
|
APN |
2 |
111,313,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03035:Or4f4b
|
APN |
2 |
111,314,168 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1214:Or4f4b
|
UTSW |
2 |
111,314,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1471:Or4f4b
|
UTSW |
2 |
111,314,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1714:Or4f4b
|
UTSW |
2 |
111,314,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2088:Or4f4b
|
UTSW |
2 |
111,314,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Or4f4b
|
UTSW |
2 |
111,313,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2141:Or4f4b
|
UTSW |
2 |
111,313,975 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3945:Or4f4b
|
UTSW |
2 |
111,314,032 (GRCm39) |
nonsense |
probably null |
|
|
R4276:Or4f4b
|
UTSW |
2 |
111,313,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4562:Or4f4b
|
UTSW |
2 |
111,313,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4896:Or4f4b
|
UTSW |
2 |
111,314,005 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4946:Or4f4b
|
UTSW |
2 |
111,314,311 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5004:Or4f4b
|
UTSW |
2 |
111,314,005 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5686:Or4f4b
|
UTSW |
2 |
111,314,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Or4f4b
|
UTSW |
2 |
111,314,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Or4f4b
|
UTSW |
2 |
111,314,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6960:Or4f4b
|
UTSW |
2 |
111,314,071 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7293:Or4f4b
|
UTSW |
2 |
111,313,699 (GRCm39) |
splice site |
probably null |
|
|
R7642:Or4f4b
|
UTSW |
2 |
111,313,823 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8429:Or4f4b
|
UTSW |
2 |
111,313,840 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8447:Or4f4b
|
UTSW |
2 |
111,314,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation