Incidental Mutation 'IGL02682:Or4f14b'
| ID |
303380 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4f14b
|
| Ensembl Gene |
ENSMUSG00000094747 |
| Gene Name |
olfactory receptor family 4 subfamily F member 14B |
| Synonyms |
GA_x6K02T2Q125-72988111-72987173, MOR245-19P, Olfr1307 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
IGL02682
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
111774861-111775799 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111775285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 172
(N172I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099604]
[ENSMUST00000099606]
|
| AlphaFold |
Q7TQX1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099604
AA Change: N172I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097199
Gene: ENSMUSG00000094747
AA Change: N172I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
38 |
311 |
1.5e-36 |
PFAM |
|
Pfam:7tm_1
|
49 |
295 |
6.5e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099606
AA Change: N172I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097201
Gene: ENSMUSG00000094747
AA Change: N172I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
305 |
2.2e-42 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
6.7e-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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
A |
G |
2: 58,367,823 (GRCm39) |
S113P |
probably benign |
Het |
| Arhgdib |
A |
T |
6: 136,901,166 (GRCm39) |
W188R |
probably damaging |
Het |
| Bcr |
T |
A |
10: 75,001,878 (GRCm39) |
N927K |
possibly damaging |
Het |
| Cd209c |
A |
G |
8: 3,990,324 (GRCm39) |
Y165H |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,750,515 (GRCm39) |
K102E |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,606,623 (GRCm39) |
E600G |
probably damaging |
Het |
| Ddx4 |
A |
T |
13: 112,758,720 (GRCm39) |
H280Q |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,992,498 (GRCm39) |
Y462C |
probably damaging |
Het |
| Fibcd1 |
T |
A |
2: 31,728,576 (GRCm39) |
I94F |
probably damaging |
Het |
| Gm4846 |
C |
A |
1: 166,322,195 (GRCm39) |
G124V |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,797,469 (GRCm39) |
I108T |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,242,691 (GRCm39) |
M51K |
probably benign |
Het |
| Hck |
A |
G |
2: 152,976,054 (GRCm39) |
I198V |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,924 (GRCm39) |
C209* |
probably null |
Het |
| Klhl1 |
T |
A |
14: 96,438,778 (GRCm39) |
I507F |
possibly damaging |
Het |
| Knl1 |
A |
T |
2: 118,908,450 (GRCm39) |
K1693N |
possibly damaging |
Het |
| Mcam |
T |
C |
9: 44,051,714 (GRCm39) |
V490A |
possibly damaging |
Het |
| Mrgprx1 |
A |
T |
7: 47,671,740 (GRCm39) |
D2E |
probably damaging |
Het |
| Mtg1 |
T |
C |
7: 139,724,642 (GRCm39) |
|
probably benign |
Het |
| Myof |
C |
A |
19: 37,909,929 (GRCm39) |
R1512L |
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,810,996 (GRCm39) |
T679I |
probably benign |
Het |
| Nwd2 |
C |
A |
5: 63,962,020 (GRCm39) |
L535I |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,962,021 (GRCm39) |
L535H |
probably damaging |
Het |
| Or52j3 |
A |
T |
7: 102,836,221 (GRCm39) |
I138F |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,652,033 (GRCm39) |
S155P |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,602,275 (GRCm39) |
*41W |
probably null |
Het |
| Prl5a1 |
T |
A |
13: 28,329,403 (GRCm39) |
N27K |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,358,708 (GRCm39) |
T1292A |
probably damaging |
Het |
| Rnf38 |
G |
A |
4: 44,133,745 (GRCm39) |
A376V |
probably damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,216,580 (GRCm39) |
V117A |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,517 (GRCm39) |
F707L |
probably damaging |
Het |
| Snx16 |
G |
A |
3: 10,503,235 (GRCm39) |
P4L |
probably damaging |
Het |
| Snx6 |
T |
C |
12: 54,801,130 (GRCm39) |
D289G |
probably damaging |
Het |
| St8sia3 |
G |
T |
18: 64,402,750 (GRCm39) |
V130F |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,363,704 (GRCm39) |
|
probably null |
Het |
| Ubqln3 |
A |
G |
7: 103,791,272 (GRCm39) |
F273L |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,507 (GRCm39) |
R834S |
possibly damaging |
Het |
| Vmn2r18 |
G |
T |
5: 151,508,102 (GRCm39) |
H341N |
probably damaging |
Het |
| Vrk3 |
A |
G |
7: 44,403,244 (GRCm39) |
I2V |
probably benign |
Het |
| Zglp1 |
A |
G |
9: 20,977,534 (GRCm39) |
S94P |
probably benign |
Het |
|
| Other mutations in Or4f14b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01501:Or4f14b
|
APN |
2 |
111,774,863 (GRCm39) |
makesense |
probably null |
|
|
IGL01947:Or4f14b
|
APN |
2 |
111,775,339 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02373:Or4f14b
|
APN |
2 |
111,775,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0714:Or4f14b
|
UTSW |
2 |
111,774,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1670:Or4f14b
|
UTSW |
2 |
111,775,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Or4f14b
|
UTSW |
2 |
111,775,633 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1733:Or4f14b
|
UTSW |
2 |
111,775,625 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1773:Or4f14b
|
UTSW |
2 |
111,775,204 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1783:Or4f14b
|
UTSW |
2 |
111,775,633 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2180:Or4f14b
|
UTSW |
2 |
111,775,348 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2197:Or4f14b
|
UTSW |
2 |
111,775,658 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2207:Or4f14b
|
UTSW |
2 |
111,775,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2377:Or4f14b
|
UTSW |
2 |
111,774,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Or4f14b
|
UTSW |
2 |
111,775,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4595:Or4f14b
|
UTSW |
2 |
111,774,997 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4859:Or4f14b
|
UTSW |
2 |
111,775,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4910:Or4f14b
|
UTSW |
2 |
111,775,423 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5167:Or4f14b
|
UTSW |
2 |
111,775,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5537:Or4f14b
|
UTSW |
2 |
111,775,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Or4f14b
|
UTSW |
2 |
111,775,739 (GRCm39) |
missense |
probably null |
0.41 |
|
R6877:Or4f14b
|
UTSW |
2 |
111,775,184 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7011:Or4f14b
|
UTSW |
2 |
111,775,031 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7177:Or4f14b
|
UTSW |
2 |
111,775,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7937:Or4f14b
|
UTSW |
2 |
111,774,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8792:Or4f14b
|
UTSW |
2 |
111,775,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Or4f14b
|
UTSW |
2 |
111,774,967 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9358:Or4f14b
|
UTSW |
2 |
111,775,429 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Posted On |
2015-04-16 |
Incidental Mutation