Incidental Mutation 'R1078:Or4k47'
| ID |
85718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4k47
|
| Ensembl Gene |
ENSMUSG00000094858 |
| Gene Name |
olfactory receptor family 4 subfamily K member 47 |
| Synonyms |
GA_x6K02T2Q125-72673494-72672556, Olfr1297, MOR248-4 |
| MMRRC Submission |
039164-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R1078 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
111451479-111452417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111451690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 243
(H243R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099612]
[ENSMUST00000207283]
[ENSMUST00000213398]
|
| AlphaFold |
Q8VGE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099612
AA Change: H243R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097207
Gene: ENSMUSG00000094858
AA Change: H243R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
4.8e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
6.7e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207283
AA Change: H243R
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213398
AA Change: H243R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1563 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.4%
- 20x: 94.4%
|
| Validation Efficiency |
96% (53/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
T |
C |
5: 66,145,698 (GRCm39) |
T138A |
unknown |
Het |
| Abi3bp |
T |
C |
16: 56,474,444 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
T |
7: 80,728,348 (GRCm39) |
M493L |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,060 (GRCm39) |
A20V |
unknown |
Het |
| Bms1 |
T |
C |
6: 118,382,182 (GRCm39) |
D452G |
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,184,389 (GRCm39) |
T3A |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,208,238 (GRCm39) |
V95A |
possibly damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,534,966 (GRCm39) |
K60E |
probably benign |
Het |
| Cyp4f13 |
T |
C |
17: 33,144,542 (GRCm39) |
H318R |
probably damaging |
Het |
| Dlgap5 |
G |
A |
14: 47,637,023 (GRCm39) |
T485M |
probably damaging |
Het |
| Dsp |
C |
T |
13: 38,367,082 (GRCm39) |
|
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,894,538 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
A |
T |
7: 18,913,687 (GRCm39) |
Y168F |
probably benign |
Het |
| Entrep1 |
T |
A |
19: 23,950,939 (GRCm39) |
R547S |
probably benign |
Het |
| Ep400 |
C |
T |
5: 110,883,388 (GRCm39) |
|
probably benign |
Het |
| Ercc4 |
C |
A |
16: 12,948,061 (GRCm39) |
A336D |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,037,235 (GRCm39) |
L3629S |
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,664,833 (GRCm39) |
R925H |
probably damaging |
Het |
| Gfi1b |
A |
T |
2: 28,503,877 (GRCm39) |
W108R |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,746,508 (GRCm39) |
P108L |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,026,696 (GRCm39) |
F140I |
probably damaging |
Het |
| Hyal2 |
T |
A |
9: 107,449,445 (GRCm39) |
H400Q |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,902,585 (GRCm39) |
Y371H |
probably damaging |
Het |
| Il22b |
T |
G |
10: 118,126,056 (GRCm39) |
*180C |
probably null |
Het |
| Kdm2b |
T |
C |
5: 123,099,604 (GRCm39) |
T118A |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,821,557 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lmo7 |
C |
T |
14: 102,157,910 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
G |
T |
11: 103,388,457 (GRCm39) |
P2323T |
unknown |
Het |
| Lrrc38 |
A |
G |
4: 143,077,088 (GRCm39) |
Y117C |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,291,281 (GRCm39) |
V1024A |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,612,637 (GRCm39) |
N904S |
possibly damaging |
Het |
| Or12d13 |
T |
A |
17: 37,647,917 (GRCm39) |
I69F |
probably damaging |
Het |
| Or9g4b |
T |
C |
2: 85,616,437 (GRCm39) |
V194A |
possibly damaging |
Het |
| Pld4 |
A |
T |
12: 112,729,876 (GRCm39) |
I53F |
probably benign |
Het |
| Plekhg4 |
T |
A |
8: 106,108,309 (GRCm39) |
C1117* |
probably null |
Het |
| Prss39 |
G |
A |
1: 34,541,167 (GRCm39) |
E224K |
probably benign |
Het |
| Psme1 |
G |
T |
14: 55,818,107 (GRCm39) |
G149V |
probably damaging |
Het |
| Sanbr |
A |
C |
11: 23,561,762 (GRCm39) |
I358S |
probably benign |
Het |
| Soat2 |
T |
A |
15: 102,061,573 (GRCm39) |
|
probably null |
Het |
| Stab2 |
C |
T |
10: 86,742,997 (GRCm39) |
|
probably null |
Het |
| Tcf7l2 |
A |
G |
19: 55,731,627 (GRCm39) |
T127A |
probably benign |
Het |
| Tcp1 |
T |
C |
17: 13,142,091 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
G |
A |
13: 92,899,434 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
T |
C |
6: 97,150,261 (GRCm39) |
D482G |
probably damaging |
Het |
| Trim66 |
G |
T |
7: 109,071,526 (GRCm39) |
P591H |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,178,347 (GRCm39) |
S108P |
probably benign |
Het |
| Unc79 |
T |
G |
12: 103,041,112 (GRCm39) |
M715R |
probably benign |
Het |
| Usp34 |
C |
A |
11: 23,383,175 (GRCm39) |
|
probably benign |
Het |
| Utrn |
T |
G |
10: 12,331,310 (GRCm39) |
|
probably null |
Het |
| Zfp830 |
T |
C |
11: 82,656,165 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or4k47 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Or4k47
|
APN |
2 |
111,451,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01305:Or4k47
|
APN |
2 |
111,451,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01903:Or4k47
|
APN |
2 |
111,452,003 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01984:Or4k47
|
APN |
2 |
111,451,927 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL03065:Or4k47
|
APN |
2 |
111,451,535 (GRCm39) |
missense |
probably damaging |
0.98 |
|
ANU22:Or4k47
|
UTSW |
2 |
111,451,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0313:Or4k47
|
UTSW |
2 |
111,451,945 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0615:Or4k47
|
UTSW |
2 |
111,452,264 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1028:Or4k47
|
UTSW |
2 |
111,451,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1158:Or4k47
|
UTSW |
2 |
111,452,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1419:Or4k47
|
UTSW |
2 |
111,451,640 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1980:Or4k47
|
UTSW |
2 |
111,451,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1981:Or4k47
|
UTSW |
2 |
111,451,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2044:Or4k47
|
UTSW |
2 |
111,452,159 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2080:Or4k47
|
UTSW |
2 |
111,452,084 (GRCm39) |
missense |
probably benign |
|
|
R2170:Or4k47
|
UTSW |
2 |
111,451,945 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4494:Or4k47
|
UTSW |
2 |
111,451,493 (GRCm39) |
nonsense |
probably null |
|
|
R4965:Or4k47
|
UTSW |
2 |
111,451,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Or4k47
|
UTSW |
2 |
111,451,771 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5891:Or4k47
|
UTSW |
2 |
111,451,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6192:Or4k47
|
UTSW |
2 |
111,451,520 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6383:Or4k47
|
UTSW |
2 |
111,451,531 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6730:Or4k47
|
UTSW |
2 |
111,452,080 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7189:Or4k47
|
UTSW |
2 |
111,451,538 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7193:Or4k47
|
UTSW |
2 |
111,451,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Or4k47
|
UTSW |
2 |
111,451,538 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7735:Or4k47
|
UTSW |
2 |
111,451,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Or4k47
|
UTSW |
2 |
111,452,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8019:Or4k47
|
UTSW |
2 |
111,452,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8285:Or4k47
|
UTSW |
2 |
111,452,390 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8419:Or4k47
|
UTSW |
2 |
111,451,849 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9258:Or4k47
|
UTSW |
2 |
111,452,329 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
X0063:Or4k47
|
UTSW |
2 |
111,451,726 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1176:Or4k47
|
UTSW |
2 |
111,451,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTGGCTCTCAGAAATTTGCCAATG -3'
(R):5'- GACAGTTTCTTTTGTGACATGCCCC -3'
Sequencing Primer
(F):5'- ATTTGCCAATGAATCTTTTCATAGC -3'
(R):5'- TGACATGCCCCTGGTAATCAAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation