Incidental Mutation 'R5222:Or1e16'
| ID |
402376 |
| 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 |
042795-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
R5222 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73285902-73290321 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
AGCGGTCGTAGGC to AGC
at 73286480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120303]
[ENSMUST00000131253]
[ENSMUST00000134011]
|
| AlphaFold |
Q8VGI1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000120303
|
| SMART Domains |
Protein: ENSMUSP00000113707
Gene: ENSMUSG00000069823
| 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 null
Transcript: ENSMUST00000131253
|
| SMART Domains |
Protein: ENSMUSP00000120899
Gene: ENSMUSG00000069823
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (52/53) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
C |
A |
1: 159,872,178 (GRCm39) |
|
noncoding transcript |
Het |
| Acad11 |
G |
A |
9: 103,974,576 (GRCm39) |
A515T |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,539,730 (GRCm39) |
Y43C |
probably damaging |
Het |
| Arhgef33 |
A |
G |
17: 80,644,743 (GRCm39) |
Y24C |
probably damaging |
Het |
| Cd40 |
G |
C |
2: 164,908,464 (GRCm39) |
S180T |
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,185,606 (GRCm39) |
S302T |
possibly damaging |
Het |
| Cit |
C |
A |
5: 116,090,602 (GRCm39) |
T932K |
probably benign |
Het |
| Col19a1 |
A |
C |
1: 24,598,721 (GRCm39) |
|
probably null |
Het |
| Dapk3 |
A |
G |
10: 81,028,294 (GRCm39) |
E288G |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,437,192 (GRCm39) |
F1002S |
probably damaging |
Het |
| Dgke |
G |
T |
11: 88,941,220 (GRCm39) |
T321K |
probably benign |
Het |
| Ebf2 |
T |
G |
14: 67,551,043 (GRCm39) |
|
probably benign |
Het |
| Enpp7 |
A |
G |
11: 118,881,788 (GRCm39) |
D311G |
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,324,493 (GRCm39) |
E194G |
probably damaging |
Het |
| Esf1 |
A |
G |
2: 140,000,503 (GRCm39) |
Y428H |
possibly damaging |
Het |
| Esyt2 |
T |
C |
12: 116,282,446 (GRCm39) |
F132S |
probably damaging |
Het |
| Gm5455 |
T |
C |
13: 110,441,494 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
T |
A |
11: 57,080,623 (GRCm39) |
V202E |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Mark1 |
A |
T |
1: 184,660,288 (GRCm39) |
F123I |
probably damaging |
Het |
| Nectin4 |
T |
A |
1: 171,212,825 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
A |
11: 58,934,971 (GRCm39) |
T5220S |
possibly damaging |
Het |
| Or2l13 |
A |
C |
16: 19,305,680 (GRCm39) |
I31L |
probably benign |
Het |
| Or2p2 |
T |
A |
13: 21,256,739 (GRCm39) |
H244L |
probably damaging |
Het |
| Pdcd1 |
A |
T |
1: 93,980,175 (GRCm39) |
V14E |
probably damaging |
Het |
| Pmel |
A |
G |
10: 128,554,853 (GRCm39) |
|
probably null |
Het |
| Pramel28 |
T |
A |
4: 143,691,362 (GRCm39) |
I454F |
possibly damaging |
Het |
| Prrx1 |
C |
T |
1: 163,089,542 (GRCm39) |
R95Q |
probably damaging |
Het |
| Pstpip2 |
T |
A |
18: 77,962,032 (GRCm39) |
Y267* |
probably null |
Het |
| Ptprq |
A |
G |
10: 107,498,425 (GRCm39) |
I884T |
probably damaging |
Het |
| Rad17 |
G |
A |
13: 100,770,399 (GRCm39) |
T216I |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 51,967,032 (GRCm39) |
I107T |
probably benign |
Het |
| Rpp14 |
T |
C |
14: 8,087,513 (GRCm38) |
L69P |
probably damaging |
Het |
| Rtel1 |
G |
T |
2: 180,988,776 (GRCm39) |
|
probably benign |
Het |
| Sap130 |
C |
T |
18: 31,799,756 (GRCm39) |
T362M |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,644,268 (GRCm39) |
|
probably null |
Het |
| Sec31a |
G |
T |
5: 100,530,754 (GRCm39) |
T243N |
probably benign |
Het |
| Slc5a9 |
T |
A |
4: 111,755,808 (GRCm39) |
H30L |
possibly damaging |
Het |
| Slco6b1 |
T |
A |
1: 96,925,216 (GRCm39) |
|
noncoding transcript |
Het |
| Smarca4 |
A |
G |
9: 21,567,002 (GRCm39) |
D694G |
probably benign |
Het |
| Spaca6 |
A |
G |
17: 18,058,367 (GRCm39) |
T213A |
probably benign |
Het |
| Tagap |
C |
A |
17: 8,152,473 (GRCm39) |
Q553K |
possibly damaging |
Het |
| Tagap |
A |
T |
17: 8,152,474 (GRCm39) |
Q553L |
possibly damaging |
Het |
| Tcf7l2 |
A |
G |
19: 55,887,044 (GRCm39) |
Q19R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,709,197 (GRCm39) |
|
probably benign |
Het |
| Ubr7 |
A |
T |
12: 102,741,964 (GRCm39) |
R399S |
probably benign |
Het |
| Uspl1 |
C |
A |
5: 149,150,911 (GRCm39) |
Q690K |
possibly damaging |
Het |
| Vps8 |
T |
A |
16: 21,400,298 (GRCm39) |
Y853* |
probably null |
Het |
| Vrk3 |
A |
T |
7: 44,409,220 (GRCm39) |
Q129L |
possibly damaging |
Het |
| Wapl |
T |
A |
14: 34,458,642 (GRCm39) |
C901* |
probably null |
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 |
|
|
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 |
|
|
R6196:Or1e16
|
UTSW |
11 |
73,286,299 (GRCm39) |
missense |
probably benign |
0.08 |
|
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'- TCAGAGCAGGCCAGCTTTAG -3'
(R):5'- TCCACACACCCATGTACTTG -3'
Sequencing Primer
(F):5'- GCTTTAGCAGAGCAGACATATC -3'
(R):5'- ATGTACTTGTTTCTCAGCAACTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation