Incidental Mutation 'R1404:Or4f47'
| ID |
160477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4f47
|
| Ensembl Gene |
ENSMUSG00000050776 |
| Gene Name |
olfactory receptor family 4 subfamily F member 47 |
| Synonyms |
Olfr1317, GA_x6K02T2Q125-73188162-73189112, MOR245-4 |
| MMRRC Submission |
039466-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R1404 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
111972292-111973242 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 111972968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 226
(R226H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149091
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060098]
[ENSMUST00000214801]
[ENSMUST00000216988]
|
| AlphaFold |
Q8VF84 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060098
AA Change: R226H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000058587
Gene: ENSMUSG00000050776
AA Change: R226H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
305 |
5.1e-40 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
5.2e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213693
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214801
AA Change: R226H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216988
AA Change: R226H
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 96.4%
- 10x: 81.1%
- 20x: 48.7%
|
| 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 |
|---|
| Aoc1l1 |
A |
T |
6: 48,952,767 (GRCm39) |
T231S |
probably benign |
Het |
| Arrdc3 |
A |
G |
13: 81,031,973 (GRCm39) |
T69A |
probably damaging |
Het |
| Bbs2 |
T |
C |
8: 94,808,627 (GRCm39) |
K360R |
probably null |
Het |
| Cdh8 |
A |
T |
8: 100,006,250 (GRCm39) |
N112K |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,228,809 (GRCm39) |
F474I |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,915,876 (GRCm39) |
D253N |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,610,480 (GRCm39) |
D103G |
probably damaging |
Het |
| Fam227b |
A |
G |
2: 125,845,759 (GRCm39) |
L410P |
probably damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Ihh |
A |
T |
1: 74,990,372 (GRCm39) |
M1K |
probably null |
Het |
| Itga6 |
A |
G |
2: 71,669,060 (GRCm39) |
T617A |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,363,609 (GRCm39) |
C744S |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,311 (GRCm39) |
I208V |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,937,387 (GRCm39) |
K659R |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,734,310 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,270,309 (GRCm39) |
E6612V |
probably damaging |
Het |
| Ncdn |
T |
C |
4: 126,643,833 (GRCm39) |
K330E |
probably benign |
Het |
| Neb |
C |
T |
2: 52,073,287 (GRCm39) |
D1975N |
possibly damaging |
Het |
| Nell1 |
T |
A |
7: 50,503,621 (GRCm39) |
N675K |
possibly damaging |
Het |
| Nlrp6 |
GAGAAGAAGAAGAAGAAGAAGA |
GAGAAGAAGAAGAAGAAGA |
7: 140,504,026 (GRCm39) |
|
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,625,003 (GRCm39) |
E737G |
possibly damaging |
Het |
| Sardh |
C |
A |
2: 27,129,473 (GRCm39) |
W275L |
probably damaging |
Het |
| Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,176,712 (GRCm39) |
H1185Y |
probably damaging |
Het |
| Skp2 |
G |
A |
15: 9,117,012 (GRCm39) |
Q298* |
probably null |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Stx12 |
T |
A |
4: 132,598,960 (GRCm39) |
I43L |
probably benign |
Het |
| Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,438,292 (GRCm39) |
M209V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,643,312 (GRCm39) |
S13202R |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,211 (GRCm39) |
V338D |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,263,471 (GRCm39) |
L767P |
probably damaging |
Het |
| Zfp202 |
C |
T |
9: 40,122,792 (GRCm39) |
T518I |
probably damaging |
Het |
|
| Other mutations in Or4f47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03294:Or4f47
|
APN |
2 |
111,972,518 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1390:Or4f47
|
UTSW |
2 |
111,972,952 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1404:Or4f47
|
UTSW |
2 |
111,972,968 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1771:Or4f47
|
UTSW |
2 |
111,973,065 (GRCm39) |
nonsense |
probably null |
|
|
R3500:Or4f47
|
UTSW |
2 |
111,972,472 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R3894:Or4f47
|
UTSW |
2 |
111,972,359 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4289:Or4f47
|
UTSW |
2 |
111,972,319 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5646:Or4f47
|
UTSW |
2 |
111,973,028 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6336:Or4f47
|
UTSW |
2 |
111,972,751 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6439:Or4f47
|
UTSW |
2 |
111,972,509 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6450:Or4f47
|
UTSW |
2 |
111,972,725 (GRCm39) |
nonsense |
probably null |
|
|
R6737:Or4f47
|
UTSW |
2 |
111,972,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Or4f47
|
UTSW |
2 |
111,972,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7336:Or4f47
|
UTSW |
2 |
111,972,514 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7597:Or4f47
|
UTSW |
2 |
111,972,925 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8088:Or4f47
|
UTSW |
2 |
111,972,602 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8119:Or4f47
|
UTSW |
2 |
111,972,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Or4f47
|
UTSW |
2 |
111,972,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8451:Or4f47
|
UTSW |
2 |
111,972,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9207:Or4f47
|
UTSW |
2 |
111,972,397 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACAAAGTCATCTCCTTGAACGG -3'
(R):5'- AGCAAAGAGTCTCCTCATTGCAACC -3'
Sequencing Primer
(F):5'- CATGGCCTATGACAGGTACATTG -3'
(R):5'- TAGATGACAGGATTCATAGAAGGAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation