Incidental Mutation 'R3949:Or4k48'
| ID |
307809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4k48
|
| Ensembl Gene |
ENSMUSG00000109487 |
| Gene Name |
olfactory receptor family 4 subfamily K member 48 |
| Synonyms |
Olfr1298, GA_x6K02T2Q125-72697413-72696475, MOR248-6 |
| MMRRC Submission |
040929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R3949 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
111475402-111476340 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111475871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 157
(I157K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119566]
[ENSMUST00000208284]
|
| AlphaFold |
Q8VGE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090322
AA Change: I157K
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099610
Gene: ENSMUSG00000096853
AA Change: I157K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
305 |
6.7e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119566
AA Change: I157K
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208284
AA Change: I157K
PolyPhen 2
Score 0.671 (Sensitivity: 0.86; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (47/47) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb2 |
A |
T |
13: 8,620,455 (GRCm39) |
M314L |
probably damaging |
Het |
| Apcs |
A |
G |
1: 172,722,259 (GRCm39) |
F29S |
probably damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
G |
10: 93,386,081 (GRCm39) |
M66V |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,258,467 (GRCm39) |
K269E |
probably benign |
Het |
| Chrdl2 |
A |
C |
7: 99,678,412 (GRCm39) |
E328A |
possibly damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,087,713 (GRCm39) |
N421S |
probably benign |
Het |
| Dbndd1 |
G |
T |
8: 124,233,473 (GRCm39) |
Q207K |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,679,597 (GRCm39) |
R50Q |
probably benign |
Het |
| Fan1 |
C |
A |
7: 64,021,292 (GRCm39) |
E591* |
probably null |
Het |
| Fpr1 |
C |
A |
17: 18,097,191 (GRCm39) |
C266F |
probably benign |
Het |
| Gata4 |
C |
T |
14: 63,478,146 (GRCm39) |
R151H |
possibly damaging |
Het |
| Gipr |
T |
C |
7: 18,891,354 (GRCm39) |
N441S |
probably benign |
Het |
| Ino80d |
G |
T |
1: 63,113,662 (GRCm39) |
Q263K |
probably benign |
Het |
| Ipo13 |
A |
G |
4: 117,758,239 (GRCm39) |
I708T |
probably benign |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Kctd8 |
C |
T |
5: 69,498,617 (GRCm39) |
G10S |
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,332,648 (GRCm39) |
K257Q |
probably damaging |
Het |
| Lcp1 |
A |
G |
14: 75,443,569 (GRCm39) |
N195S |
possibly damaging |
Het |
| Or5b121 |
T |
C |
19: 13,507,384 (GRCm39) |
S160P |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,840,905 (GRCm39) |
D113G |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,476,141 (GRCm39) |
S426P |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,603,076 (GRCm39) |
D446G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,797,011 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
A |
G |
11: 70,444,180 (GRCm39) |
D492G |
probably benign |
Het |
| Ranbp17 |
G |
A |
11: 33,429,189 (GRCm39) |
A352V |
probably benign |
Het |
| Rasgrf1 |
A |
C |
9: 89,863,797 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Serpinb10 |
T |
A |
1: 107,468,636 (GRCm39) |
L170H |
probably damaging |
Het |
| Sfxn4 |
A |
G |
19: 60,840,501 (GRCm39) |
Y165H |
probably damaging |
Het |
| Slc32a1 |
C |
T |
2: 158,453,152 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
A |
T |
1: 13,059,833 (GRCm39) |
V296D |
probably damaging |
Het |
| Syn2 |
T |
A |
6: 115,204,290 (GRCm39) |
|
probably null |
Het |
| Tbx2 |
C |
T |
11: 85,729,101 (GRCm39) |
Q495* |
probably null |
Het |
| Trav6-1 |
G |
A |
14: 52,875,993 (GRCm39) |
V8M |
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,534,428 (GRCm39) |
N46K |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,348 (GRCm39) |
F432I |
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,599,252 (GRCm39) |
M312T |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,185,165 (GRCm39) |
|
probably benign |
Het |
| Yju2b |
A |
G |
8: 84,985,453 (GRCm39) |
V272A |
probably benign |
Het |
|
| Other mutations in Or4k48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01393:Or4k48
|
APN |
2 |
111,475,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01571:Or4k48
|
APN |
2 |
111,475,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02605:Or4k48
|
APN |
2 |
111,475,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02652:Or4k48
|
APN |
2 |
111,475,839 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02669:Or4k48
|
APN |
2 |
111,476,236 (GRCm39) |
nonsense |
probably null |
|
|
R0197:Or4k48
|
UTSW |
2 |
111,476,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0701:Or4k48
|
UTSW |
2 |
111,476,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0883:Or4k48
|
UTSW |
2 |
111,476,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1563:Or4k48
|
UTSW |
2 |
111,476,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1567:Or4k48
|
UTSW |
2 |
111,476,271 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1740:Or4k48
|
UTSW |
2 |
111,476,214 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2142:Or4k48
|
UTSW |
2 |
111,475,566 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4766:Or4k48
|
UTSW |
2 |
111,476,226 (GRCm39) |
missense |
probably benign |
|
|
R4924:Or4k48
|
UTSW |
2 |
111,476,121 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7320:Or4k48
|
UTSW |
2 |
111,476,297 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7695:Or4k48
|
UTSW |
2 |
111,475,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Or4k48
|
UTSW |
2 |
111,476,282 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8549:Or4k48
|
UTSW |
2 |
111,479,512 (GRCm39) |
start gained |
probably benign |
|
|
R8958:Or4k48
|
UTSW |
2 |
111,476,070 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9444:Or4k48
|
UTSW |
2 |
111,476,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9744:Or4k48
|
UTSW |
2 |
111,475,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATAAAGCAGGTTACAGCC -3'
(R):5'- ATGTGGCTCTCCTCAAACACC -3'
Sequencing Primer
(F):5'- GCAGGTTACAGCCACAACTC -3'
(R):5'- ACAAGACCATTTCCTTTGCAGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation