Incidental Mutation 'R2170:Or14a257'
| ID |
237429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or14a257
|
| Ensembl Gene |
ENSMUSG00000062878 |
| Gene Name |
olfactory receptor family 14 subfamily A member 257 |
| Synonyms |
GA_x6K02T2NHDJ-9619796-9620794, Olfr298, MOR219-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R2170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
86137759-86138757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86137778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 327
(H327L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077800]
[ENSMUST00000213223]
[ENSMUST00000216968]
[ENSMUST00000217110]
|
| AlphaFold |
Q7TS06 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077800
AA Change: H327L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000076973
Gene: ENSMUSG00000062878
AA Change: H327L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
4.2e-37 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
8.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213223
AA Change: H327L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216968
AA Change: H327L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217110
AA Change: H327L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
A |
G |
8: 117,697,896 (GRCm39) |
S404P |
probably damaging |
Het |
| 4933434E20Rik |
T |
A |
3: 89,963,611 (GRCm39) |
L89Q |
probably benign |
Het |
| Atxn2l |
T |
A |
7: 126,102,411 (GRCm39) |
|
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,793,680 (GRCm39) |
F89S |
probably damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,095,168 (GRCm39) |
S1977T |
probably benign |
Het |
| Ccr1l1 |
C |
A |
9: 123,778,172 (GRCm39) |
V92F |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Chrne |
T |
C |
11: 70,509,323 (GRCm39) |
N86S |
probably damaging |
Het |
| Copg2 |
CCTCATC |
CC |
6: 30,789,757 (GRCm39) |
|
probably null |
Het |
| Elapor2 |
A |
G |
5: 9,529,206 (GRCm39) |
D221G |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,921,984 (GRCm39) |
S21P |
probably benign |
Het |
| Glb1 |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
9: 114,302,873 (GRCm39) |
|
probably benign |
Het |
| Gngt2 |
A |
G |
11: 95,728,071 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,981,956 (GRCm39) |
E135V |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,270,293 (GRCm39) |
A1177T |
probably benign |
Het |
| Itga10 |
T |
C |
3: 96,557,773 (GRCm39) |
V272A |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 138,015,682 (GRCm39) |
I418M |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,918,075 (GRCm39) |
|
probably null |
Het |
| Lamc1 |
C |
T |
1: 153,124,888 (GRCm39) |
A628T |
probably benign |
Het |
| Mag |
A |
T |
7: 30,608,412 (GRCm39) |
L234* |
probably null |
Het |
| Muc5ac |
T |
A |
7: 141,366,084 (GRCm39) |
V2080E |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,871,724 (GRCm39) |
D2119G |
probably benign |
Het |
| Ncam1 |
C |
T |
9: 49,709,981 (GRCm39) |
A17T |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,322,702 (GRCm39) |
Y2570H |
probably damaging |
Het |
| Oasl2 |
T |
C |
5: 115,044,861 (GRCm39) |
V129A |
probably damaging |
Het |
| Or4k47 |
C |
T |
2: 111,451,945 (GRCm39) |
S158N |
possibly damaging |
Het |
| Podn |
A |
T |
4: 107,879,730 (GRCm39) |
L85Q |
probably damaging |
Het |
| Ppp1r12c |
A |
T |
7: 4,485,805 (GRCm39) |
D680E |
possibly damaging |
Het |
| Prdm14 |
G |
A |
1: 13,192,684 (GRCm39) |
L352F |
probably damaging |
Het |
| Prob1 |
G |
T |
18: 35,787,790 (GRCm39) |
Q155K |
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Shoc1 |
A |
G |
4: 59,069,215 (GRCm39) |
L737S |
possibly damaging |
Het |
| Stard5 |
A |
G |
7: 83,282,366 (GRCm39) |
T60A |
probably benign |
Het |
| Syt7 |
A |
G |
19: 10,416,744 (GRCm39) |
K402E |
probably damaging |
Het |
| Tll2 |
T |
A |
19: 41,171,714 (GRCm39) |
D69V |
probably damaging |
Het |
| Vmn1r40 |
T |
C |
6: 89,691,957 (GRCm39) |
F258S |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,284,812 (GRCm39) |
Y19N |
possibly damaging |
Het |
|
| Other mutations in Or14a257 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01517:Or14a257
|
APN |
7 |
86,138,765 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01603:Or14a257
|
APN |
7 |
86,138,139 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02389:Or14a257
|
APN |
7 |
86,138,336 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03146:Or14a257
|
APN |
7 |
86,138,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0680:Or14a257
|
UTSW |
7 |
86,138,545 (GRCm39) |
missense |
probably benign |
|
|
R0834:Or14a257
|
UTSW |
7 |
86,138,698 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1132:Or14a257
|
UTSW |
7 |
86,138,425 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1519:Or14a257
|
UTSW |
7 |
86,138,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1881:Or14a257
|
UTSW |
7 |
86,138,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4500:Or14a257
|
UTSW |
7 |
86,138,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4524:Or14a257
|
UTSW |
7 |
86,138,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5184:Or14a257
|
UTSW |
7 |
86,138,499 (GRCm39) |
frame shift |
probably null |
|
|
R5521:Or14a257
|
UTSW |
7 |
86,137,839 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7448:Or14a257
|
UTSW |
7 |
86,138,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7643:Or14a257
|
UTSW |
7 |
86,138,776 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7688:Or14a257
|
UTSW |
7 |
86,138,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8104:Or14a257
|
UTSW |
7 |
86,138,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Or14a257
|
UTSW |
7 |
86,138,061 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8973:Or14a257
|
UTSW |
7 |
86,138,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9235:Or14a257
|
UTSW |
7 |
86,138,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCCTACTGCAATCAAGGC -3'
(R):5'- AGGCTGTTTTCTGTGCTACAC -3'
Sequencing Primer
(F):5'- TACTGCAATCAAGGCCGGGTG -3'
(R):5'- ACACACTGTGTTGCCTCCAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation