Incidental Mutation 'R6196:Or1e16'
| ID |
502931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1e16
|
| Ensembl Gene |
ENSMUSG00000069823 |
| Gene Name |
olfactory receptor family 1 subfamily E member 16 |
| Synonyms |
GA_x6K02T2P1NL-3556334-3555390, MOR135-13, I54, Olfr1 |
| MMRRC Submission |
044336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R6196 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73285902-73290321 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73286299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 183
(A183V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113707
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120303]
[ENSMUST00000131253]
[ENSMUST00000134011]
|
| AlphaFold |
Q8VGI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120303
AA Change: A183V
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113707
Gene: ENSMUSG00000069823
AA Change: A183V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
8.7e-60 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131253
AA Change: A183V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000120899
Gene: ENSMUSG00000069823
AA Change: A183V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
31 |
184 |
1.2e-6 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
171 |
6.1e-8 |
PFAM |
|
Pfam:7tm_1
|
41 |
191 |
3.6e-30 |
PFAM |
|
Pfam:7tm_4
|
139 |
196 |
1.4e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134011
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (55/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
T |
8: 106,436,554 (GRCm39) |
H241L |
possibly damaging |
Het |
| Acap1 |
T |
C |
11: 69,777,893 (GRCm39) |
D115G |
probably damaging |
Het |
| Acvr2b |
T |
C |
9: 119,262,469 (GRCm39) |
V510A |
possibly damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Agr2 |
A |
T |
12: 36,045,591 (GRCm39) |
K26* |
probably null |
Het |
| Aox4 |
T |
A |
1: 58,256,685 (GRCm39) |
I69N |
probably damaging |
Het |
| Asb4 |
G |
A |
6: 5,390,699 (GRCm39) |
G31R |
probably benign |
Het |
| Atp6v1c2 |
C |
A |
12: 17,351,187 (GRCm39) |
E105* |
probably null |
Het |
| Bend6 |
A |
G |
1: 33,917,509 (GRCm39) |
Y44H |
probably damaging |
Het |
| Bltp3b |
T |
G |
10: 89,641,195 (GRCm39) |
S789A |
probably benign |
Het |
| Btn2a2 |
C |
T |
13: 23,672,015 (GRCm39) |
V25M |
possibly damaging |
Het |
| Cab39l |
T |
A |
14: 59,737,039 (GRCm39) |
L53Q |
probably damaging |
Het |
| Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
| Cdc14b |
C |
T |
13: 64,353,338 (GRCm39) |
|
probably benign |
Het |
| Cenpu |
A |
G |
8: 47,015,615 (GRCm39) |
R177G |
probably benign |
Het |
| Chit1 |
C |
A |
1: 134,074,381 (GRCm39) |
Y229* |
probably null |
Het |
| Crybg2 |
C |
A |
4: 133,808,450 (GRCm39) |
S1350R |
probably damaging |
Het |
| Ctdspl2 |
A |
G |
2: 121,809,373 (GRCm39) |
|
probably null |
Het |
| Ctsr |
A |
T |
13: 61,308,345 (GRCm39) |
H266Q |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,849,766 (GRCm39) |
E63G |
possibly damaging |
Het |
| Efcab3 |
T |
G |
11: 104,746,386 (GRCm39) |
I2279S |
probably benign |
Het |
| Extl3 |
T |
A |
14: 65,313,584 (GRCm39) |
M533L |
probably benign |
Het |
| Fam162b |
C |
A |
10: 51,463,506 (GRCm39) |
|
probably null |
Het |
| Fbxo28 |
T |
C |
1: 182,157,454 (GRCm39) |
K121R |
probably damaging |
Het |
| Fsip2 |
A |
C |
2: 82,820,227 (GRCm39) |
E5320A |
possibly damaging |
Het |
| Galc |
A |
T |
12: 98,225,421 (GRCm39) |
D56E |
probably damaging |
Het |
| Gm5468 |
A |
G |
15: 25,414,481 (GRCm39) |
|
probably benign |
Het |
| Hk1 |
T |
A |
10: 62,135,038 (GRCm39) |
H24L |
probably damaging |
Het |
| Igkv5-43 |
A |
G |
6: 69,752,965 (GRCm39) |
V39A |
possibly damaging |
Het |
| Lemd2 |
G |
A |
17: 27,411,976 (GRCm39) |
Q439* |
probably null |
Het |
| Lgi1 |
A |
G |
19: 38,294,257 (GRCm39) |
N295S |
probably benign |
Het |
| Macc1 |
T |
G |
12: 119,409,785 (GRCm39) |
S184R |
probably damaging |
Het |
| Msmo1 |
A |
G |
8: 65,180,918 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,405,333 (GRCm39) |
R914S |
unknown |
Het |
| Or10d1 |
G |
A |
9: 39,483,776 (GRCm39) |
P260S |
possibly damaging |
Het |
| Or1e17 |
G |
A |
11: 73,831,635 (GRCm39) |
A188T |
possibly damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,135 (GRCm39) |
D180Y |
probably damaging |
Het |
| Or5b110-ps1 |
A |
G |
19: 13,260,290 (GRCm39) |
I44T |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,525,179 (GRCm39) |
S14P |
probably benign |
Het |
| Pus10 |
A |
G |
11: 23,622,638 (GRCm39) |
K86R |
probably benign |
Het |
| Rab37 |
T |
C |
11: 115,051,132 (GRCm39) |
V147A |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,011,213 (GRCm39) |
I490N |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,695,762 (GRCm39) |
D99G |
probably benign |
Het |
| Slc43a2 |
C |
T |
11: 75,459,206 (GRCm39) |
R413* |
probably null |
Het |
| Syna |
G |
T |
5: 134,588,466 (GRCm39) |
T161N |
probably benign |
Het |
| T |
A |
G |
17: 8,655,996 (GRCm39) |
D86G |
possibly damaging |
Het |
| Tanc1 |
G |
A |
2: 59,674,366 (GRCm39) |
E1817K |
possibly damaging |
Het |
| Tap2 |
C |
A |
17: 34,433,384 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,653,741 (GRCm39) |
D717E |
probably damaging |
Het |
| Tcf20 |
G |
T |
15: 82,736,187 (GRCm39) |
Q1755K |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trpm7 |
G |
A |
2: 126,667,559 (GRCm39) |
P811S |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,679 (GRCm39) |
V712A |
probably benign |
Het |
| Vwc2l |
T |
A |
1: 70,768,180 (GRCm39) |
D34E |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,077,632 (GRCm39) |
K1091E |
probably benign |
Het |
|
| Other mutations in Or1e16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Or1e16
|
APN |
11 |
73,286,017 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01938:Or1e16
|
APN |
11 |
73,286,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02270:Or1e16
|
APN |
11 |
73,286,191 (GRCm39) |
missense |
probably benign |
|
|
IGL03287:Or1e16
|
APN |
11 |
73,286,845 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R0006:Or1e16
|
UTSW |
11 |
73,286,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0907:Or1e16
|
UTSW |
11 |
73,285,945 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1982:Or1e16
|
UTSW |
11 |
73,285,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3804:Or1e16
|
UTSW |
11 |
73,286,776 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4064:Or1e16
|
UTSW |
11 |
73,286,348 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4171:Or1e16
|
UTSW |
11 |
73,286,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Or1e16
|
UTSW |
11 |
73,285,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Or1e16
|
UTSW |
11 |
73,286,521 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4733:Or1e16
|
UTSW |
11 |
73,286,521 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5030:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5097:Or1e16
|
UTSW |
11 |
73,286,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5098:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5101:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5135:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5137:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5192:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5193:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5193:Or1e16
|
UTSW |
11 |
73,286,479 (GRCm39) |
frame shift |
probably null |
|
|
R5197:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5220:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5221:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5222:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5258:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5297:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5396:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5398:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5399:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5432:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5433:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5531:Or1e16
|
UTSW |
11 |
73,286,003 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5634:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5714:Or1e16
|
UTSW |
11 |
73,286,187 (GRCm39) |
splice site |
probably null |
|
|
R5812:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5813:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5814:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5815:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5913:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5955:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5956:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R5968:Or1e16
|
UTSW |
11 |
73,286,018 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6029:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R6034:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R6034:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R6176:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R6177:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R6178:Or1e16
|
UTSW |
11 |
73,286,480 (GRCm39) |
frame shift |
probably null |
|
|
R6995:Or1e16
|
UTSW |
11 |
73,286,410 (GRCm39) |
missense |
probably benign |
|
|
R7035:Or1e16
|
UTSW |
11 |
73,286,544 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7470:Or1e16
|
UTSW |
11 |
73,286,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7530:Or1e16
|
UTSW |
11 |
73,279,189 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8461:Or1e16
|
UTSW |
11 |
73,285,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Or1e16
|
UTSW |
11 |
73,286,853 (GRCm39) |
unclassified |
probably benign |
|
|
R9279:Or1e16
|
UTSW |
11 |
73,279,789 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9293:Or1e16
|
UTSW |
11 |
73,285,955 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9682:Or1e16
|
UTSW |
11 |
73,286,025 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9752:Or1e16
|
UTSW |
11 |
73,286,479 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCCCATAGAACAGTGACAC -3'
(R):5'- CGCTATGTGGCCATCTGTTACC -3'
Sequencing Primer
(F):5'- TGACACTACAGACAGGTGAGATCC -3'
(R):5'- CCCCTTCATTACACCACCATCATG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation