Incidental Mutation 'R6720:Or1e1f'
| ID |
529549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1e1f
|
| Ensembl Gene |
ENSMUSG00000057050 |
| Gene Name |
olfactory receptor family 1 subfamily E member 1F |
| Synonyms |
Olfr397, GA_x6K02T2P1NL-4121434-4122381, MOR135-28 |
| MMRRC Submission |
044838-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R6720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73855436-73856383 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73856291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 286
(N286D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121280]
[ENSMUST00000213134]
[ENSMUST00000216291]
|
| AlphaFold |
Q8VEZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121280
AA Change: N286D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113870
Gene: ENSMUSG00000057050
AA Change: N286D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
1.3e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
4.3e-35 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
1.2e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213134
AA Change: N286D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215020
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216291
AA Change: N286D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6052 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.6%
|
| Validation Efficiency |
98% (50/51) |
| 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 |
|---|
| 1700013G24Rik |
G |
A |
4: 137,181,997 (GRCm39) |
E51K |
possibly damaging |
Het |
| Abca1 |
A |
C |
4: 53,083,733 (GRCm39) |
L700R |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,038,032 (GRCm39) |
|
probably null |
Het |
| Baz2b |
G |
T |
2: 59,755,234 (GRCm39) |
P241Q |
probably damaging |
Het |
| Cd6 |
T |
A |
19: 10,771,973 (GRCm39) |
T414S |
probably benign |
Het |
| Ces2b |
A |
T |
8: 105,563,501 (GRCm39) |
E409D |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,656,981 (GRCm39) |
Y3024H |
probably benign |
Het |
| Chrm1 |
A |
G |
19: 8,655,912 (GRCm39) |
T206A |
probably benign |
Het |
| Clptm1l |
T |
C |
13: 73,766,635 (GRCm39) |
W512R |
probably damaging |
Het |
| Col15a1 |
T |
A |
4: 47,247,552 (GRCm39) |
|
probably null |
Het |
| Cox15 |
A |
G |
19: 43,725,228 (GRCm39) |
S392P |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,521,355 (GRCm39) |
|
probably null |
Het |
| Cr2 |
T |
C |
1: 194,837,508 (GRCm39) |
M1197V |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,453,723 (GRCm39) |
K1281E |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,009,381 (GRCm39) |
F2094L |
probably damaging |
Het |
| Ear2 |
T |
A |
14: 44,340,416 (GRCm39) |
C25S |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,016,012 (GRCm39) |
D802G |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,729,449 (GRCm39) |
Q84* |
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,903,143 (GRCm39) |
|
probably null |
Het |
| Ephb2 |
T |
C |
4: 136,384,813 (GRCm39) |
D866G |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,449,134 (GRCm39) |
M99T |
probably damaging |
Het |
| Foxs1 |
T |
A |
2: 152,774,640 (GRCm39) |
S138C |
probably damaging |
Het |
| Frem1 |
T |
G |
4: 82,932,069 (GRCm39) |
S211R |
probably damaging |
Het |
| Gm19410 |
G |
A |
8: 36,274,730 (GRCm39) |
R1517Q |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,709,611 (GRCm39) |
I27M |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,661,654 (GRCm39) |
E299G |
probably benign |
Het |
| Hao2 |
T |
G |
3: 98,784,451 (GRCm39) |
I305L |
probably benign |
Het |
| Hectd4 |
C |
T |
5: 121,445,444 (GRCm39) |
Q122* |
probably null |
Het |
| Hivep1 |
T |
A |
13: 42,317,760 (GRCm39) |
C2079S |
probably damaging |
Het |
| Hoxb1 |
C |
A |
11: 96,257,813 (GRCm39) |
Q248K |
probably damaging |
Het |
| Hspb6 |
A |
G |
7: 30,253,772 (GRCm39) |
D95G |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,542,126 (GRCm39) |
R117S |
probably damaging |
Het |
| Ino80d |
A |
C |
1: 63,097,769 (GRCm39) |
S708R |
probably damaging |
Het |
| Mmp15 |
A |
G |
8: 96,091,942 (GRCm39) |
N51D |
probably benign |
Het |
| Naip1 |
T |
C |
13: 100,559,585 (GRCm39) |
M1140V |
probably benign |
Het |
| Niban2 |
T |
A |
2: 32,795,838 (GRCm39) |
V22D |
probably damaging |
Het |
| Or2y8 |
A |
G |
11: 52,035,520 (GRCm39) |
V279A |
probably benign |
Het |
| Or8b41 |
T |
A |
9: 38,054,449 (GRCm39) |
M1K |
probably null |
Het |
| Or8k21 |
A |
G |
2: 86,145,409 (GRCm39) |
S74P |
probably damaging |
Het |
| Pard3b |
A |
T |
1: 62,198,629 (GRCm39) |
N239I |
probably damaging |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pcdha9 |
T |
C |
18: 37,131,122 (GRCm39) |
S64P |
probably damaging |
Het |
| Pdcd1 |
T |
C |
1: 93,969,114 (GRCm39) |
N68S |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,143,916 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
A |
T |
7: 45,190,310 (GRCm39) |
D359V |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,921,792 (GRCm39) |
I78V |
probably benign |
Het |
| Slc39a7 |
T |
A |
17: 34,249,082 (GRCm39) |
T269S |
probably benign |
Het |
| Sltm |
T |
G |
9: 70,480,992 (GRCm39) |
D281E |
probably damaging |
Het |
| Zfp708 |
T |
C |
13: 67,219,496 (GRCm39) |
Y76C |
probably damaging |
Het |
| Zfp990 |
T |
A |
4: 145,263,497 (GRCm39) |
V165D |
possibly damaging |
Het |
|
| Other mutations in Or1e1f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01797:Or1e1f
|
APN |
11 |
73,855,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01839:Or1e1f
|
APN |
11 |
73,855,437 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02247:Or1e1f
|
APN |
11 |
73,855,688 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02876:Or1e1f
|
APN |
11 |
73,855,539 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03051:Or1e1f
|
APN |
11 |
73,855,860 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03123:Or1e1f
|
APN |
11 |
73,855,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03401:Or1e1f
|
APN |
11 |
73,856,388 (GRCm39) |
utr 3 prime |
probably benign |
|
|
3-1:Or1e1f
|
UTSW |
11 |
73,855,803 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0496:Or1e1f
|
UTSW |
11 |
73,855,706 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0811:Or1e1f
|
UTSW |
11 |
73,856,246 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0812:Or1e1f
|
UTSW |
11 |
73,856,246 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1503:Or1e1f
|
UTSW |
11 |
73,855,394 (GRCm39) |
utr 5 prime |
probably null |
|
|
R2067:Or1e1f
|
UTSW |
11 |
73,855,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Or1e1f
|
UTSW |
11 |
73,855,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4912:Or1e1f
|
UTSW |
11 |
73,856,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Or1e1f
|
UTSW |
11 |
73,855,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5656:Or1e1f
|
UTSW |
11 |
73,855,536 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5801:Or1e1f
|
UTSW |
11 |
73,855,772 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6329:Or1e1f
|
UTSW |
11 |
73,855,568 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7149:Or1e1f
|
UTSW |
11 |
73,856,257 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7283:Or1e1f
|
UTSW |
11 |
73,855,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8194:Or1e1f
|
UTSW |
11 |
73,856,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8466:Or1e1f
|
UTSW |
11 |
73,855,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8472:Or1e1f
|
UTSW |
11 |
73,856,223 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8882:Or1e1f
|
UTSW |
11 |
73,855,940 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9256:Or1e1f
|
UTSW |
11 |
73,856,135 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1176:Or1e1f
|
UTSW |
11 |
73,856,123 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Or1e1f
|
UTSW |
11 |
73,855,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCCCCTCTTCTAGAAGCATC -3'
(R):5'- TGTCACACCTGAAGTATAGTGC -3'
Sequencing Primer
(F):5'- TCTTCTAGAAGCATCCGCAAG -3'
(R):5'- AGTGCTAAATTTAAGTGGCATGAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation