Incidental Mutation 'R2175:Or5an1b'
| ID |
236847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5an1b
|
| Ensembl Gene |
ENSMUSG00000096436 |
| Gene Name |
olfactory receptor family 5 subfamily AN member 1B |
| Synonyms |
MOR214-6, Olfr1437, GA_x6K02T2RE5P-2658227-2657289 |
| MMRRC Submission |
040177-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R2175 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
12299251-12302430 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 12299885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 102
(Y102F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052558]
[ENSMUST00000207241]
|
| AlphaFold |
Q7TQR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052558
AA Change: Y102F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000056003
Gene: ENSMUSG00000096436
AA Change: Y102F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
308 |
6.7e-55 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
5.6e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207241
AA Change: Y102F
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,078,475 (GRCm39) |
Y583F |
probably benign |
Het |
| Adra2a |
A |
G |
19: 54,034,793 (GRCm39) |
T50A |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,078,592 (GRCm39) |
Y367C |
possibly damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,417,363 (GRCm39) |
L83P |
probably damaging |
Het |
| Asxl3 |
T |
C |
18: 22,649,652 (GRCm39) |
L547P |
probably benign |
Het |
| Cox10 |
G |
A |
11: 63,962,475 (GRCm39) |
A122V |
probably benign |
Het |
| Cttnbp2 |
A |
C |
6: 18,434,828 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
T |
12: 98,842,482 (GRCm39) |
C205* |
probably null |
Het |
| Ephx3 |
T |
A |
17: 32,407,433 (GRCm39) |
T204S |
possibly damaging |
Het |
| Evi5l |
A |
G |
8: 4,237,269 (GRCm39) |
H124R |
probably damaging |
Het |
| Ext1 |
G |
T |
15: 52,932,124 (GRCm39) |
P726Q |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,614,426 (GRCm39) |
R21G |
probably damaging |
Het |
| Hdac1 |
G |
A |
4: 129,428,463 (GRCm39) |
R36C |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,424,029 (GRCm39) |
Y715H |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,583,328 (GRCm39) |
F144S |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,622,576 (GRCm39) |
I452N |
probably benign |
Het |
| Mok |
T |
C |
12: 110,781,634 (GRCm39) |
H6R |
probably benign |
Het |
| Myef2 |
A |
T |
2: 124,940,375 (GRCm39) |
M392K |
probably damaging |
Het |
| Ncoa2 |
G |
A |
1: 13,294,837 (GRCm39) |
P28S |
probably damaging |
Het |
| Nfrkb |
A |
G |
9: 31,300,310 (GRCm39) |
T34A |
possibly damaging |
Het |
| Nkx1-1 |
G |
A |
5: 33,588,598 (GRCm39) |
A230V |
probably benign |
Het |
| Or10ag2 |
T |
A |
2: 87,248,500 (GRCm39) |
L34H |
probably damaging |
Het |
| Ryr1 |
T |
G |
7: 28,767,867 (GRCm39) |
K2890T |
probably damaging |
Het |
| Siae |
G |
T |
9: 37,539,092 (GRCm39) |
D168Y |
probably damaging |
Het |
| Smarcc1 |
A |
T |
9: 109,993,877 (GRCm39) |
T241S |
possibly damaging |
Het |
| Steap2 |
T |
A |
5: 5,723,501 (GRCm39) |
I460F |
probably damaging |
Het |
| Strap |
A |
G |
6: 137,727,590 (GRCm39) |
T345A |
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,394,513 (GRCm39) |
V1099A |
unknown |
Het |
| Thsd7a |
T |
C |
6: 12,331,943 (GRCm39) |
T1290A |
possibly damaging |
Het |
| Unc80 |
G |
A |
1: 66,716,514 (GRCm39) |
G2878D |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,583,004 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
C |
T |
2: 67,340,258 (GRCm39) |
T833I |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,955,153 (GRCm39) |
S615P |
probably damaging |
Het |
| Zfp148 |
C |
G |
16: 33,317,116 (GRCm39) |
S554* |
probably null |
Het |
|
| Other mutations in Or5an1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03034:Or5an1b
|
APN |
19 |
12,300,018 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0319:Or5an1b
|
UTSW |
19 |
12,299,680 (GRCm39) |
nonsense |
probably null |
|
|
R1603:Or5an1b
|
UTSW |
19 |
12,299,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2907:Or5an1b
|
UTSW |
19 |
12,300,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5250:Or5an1b
|
UTSW |
19 |
12,299,430 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5390:Or5an1b
|
UTSW |
19 |
12,299,505 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6949:Or5an1b
|
UTSW |
19 |
12,299,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7437:Or5an1b
|
UTSW |
19 |
12,299,472 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7652:Or5an1b
|
UTSW |
19 |
12,299,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Or5an1b
|
UTSW |
19 |
12,299,841 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7986:Or5an1b
|
UTSW |
19 |
12,300,102 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9221:Or5an1b
|
UTSW |
19 |
12,299,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or5an1b
|
UTSW |
19 |
12,299,631 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGACGTTAGGTCCACAGAAG -3'
(R):5'- TACAACCCTGACCTGGAACCTG -3'
Sequencing Primer
(F):5'- GAGCTGCAGCAAGGCACAC -3'
(R):5'- ACCTGTCCCTTGTTGTTTTAATAAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation