Incidental Mutation 'R1196:Or7e168'
ID |
101125 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or7e168
|
Ensembl Gene |
ENSMUSG00000095448 |
Gene Name |
olfactory receptor family 7 subfamily E member 168 |
Synonyms |
Olfr859, GA_x6K02T2PVTD-13548326-13549255, MOR146-3, MOR146-10_p |
MMRRC Submission |
039268-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R1196 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
19719616-19720545 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19719928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 105
(I105V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086480]
[ENSMUST00000212540]
[ENSMUST00000217280]
|
AlphaFold |
Q7TRF5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000086480
AA Change: I105V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000083669 Gene: ENSMUSG00000095448 AA Change: I105V
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
308 |
6.2e-54 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
35 |
304 |
2e-7 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
3.9e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212540
AA Change: I105V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217280
AA Change: I105V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 94.9%
- 20x: 86.8%
|
Validation Efficiency |
97% (38/39) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
C |
5: 114,383,153 (GRCm39) |
I2112T |
probably benign |
Het |
Agtpbp1 |
C |
A |
13: 59,598,132 (GRCm39) |
|
probably benign |
Het |
Ash1l |
T |
C |
3: 88,890,623 (GRCm39) |
M834T |
probably damaging |
Het |
Aspg |
A |
G |
12: 112,082,958 (GRCm39) |
T213A |
possibly damaging |
Het |
Chpf2 |
T |
C |
5: 24,794,646 (GRCm39) |
V272A |
possibly damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Ddah2 |
G |
T |
17: 35,280,503 (GRCm39) |
D215Y |
probably damaging |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Fbrsl1 |
T |
A |
5: 110,522,385 (GRCm39) |
M150L |
probably benign |
Het |
Hmces |
T |
A |
6: 87,913,164 (GRCm39) |
D306E |
probably benign |
Het |
Itga2 |
C |
T |
13: 115,002,691 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
T |
C |
10: 67,075,015 (GRCm39) |
|
probably benign |
Het |
Krr1 |
T |
A |
10: 111,811,562 (GRCm39) |
H85Q |
probably benign |
Het |
Krt87 |
C |
T |
15: 101,389,314 (GRCm39) |
R6Q |
probably benign |
Het |
Krtap24-1 |
T |
C |
16: 88,408,530 (GRCm39) |
M199V |
probably benign |
Het |
Krtap5-2 |
A |
T |
7: 141,728,620 (GRCm39) |
C353* |
probably null |
Het |
Myo7a |
T |
G |
7: 97,746,880 (GRCm39) |
I178L |
possibly damaging |
Het |
Myof |
G |
A |
19: 37,899,408 (GRCm39) |
T1043I |
probably damaging |
Het |
Noc4l |
C |
T |
5: 110,798,450 (GRCm39) |
E247K |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,787,837 (GRCm39) |
C437R |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Or4p19 |
A |
T |
2: 88,242,890 (GRCm39) |
N37K |
probably damaging |
Het |
Pank4 |
T |
C |
4: 155,062,630 (GRCm39) |
F584L |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Ranbp2 |
T |
A |
10: 58,312,875 (GRCm39) |
F1198L |
probably damaging |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Tent5c |
T |
C |
3: 100,380,316 (GRCm39) |
T147A |
possibly damaging |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Unc13a |
A |
G |
8: 72,107,630 (GRCm39) |
I554T |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,247,866 (GRCm39) |
D1023G |
probably damaging |
Het |
Zfp791 |
T |
A |
8: 85,837,583 (GRCm39) |
K94* |
probably null |
Het |
|
Other mutations in Or7e168 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00156:Or7e168
|
APN |
9 |
19,719,692 (GRCm39) |
missense |
probably benign |
0.09 |
IGL00897:Or7e168
|
APN |
9 |
19,719,917 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01132:Or7e168
|
APN |
9 |
19,719,950 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01768:Or7e168
|
APN |
9 |
19,720,456 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL02302:Or7e168
|
APN |
9 |
19,719,981 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02377:Or7e168
|
APN |
9 |
19,720,343 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02972:Or7e168
|
APN |
9 |
19,720,238 (GRCm39) |
missense |
probably damaging |
0.97 |
R0139:Or7e168
|
UTSW |
9 |
19,720,165 (GRCm39) |
missense |
probably damaging |
0.99 |
R0367:Or7e168
|
UTSW |
9 |
19,719,839 (GRCm39) |
missense |
probably damaging |
0.99 |
R0521:Or7e168
|
UTSW |
9 |
19,720,156 (GRCm39) |
missense |
probably benign |
0.00 |
R3742:Or7e168
|
UTSW |
9 |
19,720,195 (GRCm39) |
missense |
probably benign |
0.44 |
R5567:Or7e168
|
UTSW |
9 |
19,719,674 (GRCm39) |
missense |
probably damaging |
0.99 |
R6499:Or7e168
|
UTSW |
9 |
19,719,847 (GRCm39) |
missense |
probably benign |
|
R6501:Or7e168
|
UTSW |
9 |
19,720,271 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6560:Or7e168
|
UTSW |
9 |
19,720,412 (GRCm39) |
missense |
probably benign |
|
R7291:Or7e168
|
UTSW |
9 |
19,719,944 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7623:Or7e168
|
UTSW |
9 |
19,720,225 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7627:Or7e168
|
UTSW |
9 |
19,719,947 (GRCm39) |
missense |
probably damaging |
0.99 |
R8680:Or7e168
|
UTSW |
9 |
19,720,105 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8716:Or7e168
|
UTSW |
9 |
19,720,165 (GRCm39) |
missense |
probably damaging |
0.99 |
R8841:Or7e168
|
UTSW |
9 |
19,719,885 (GRCm39) |
missense |
probably benign |
0.02 |
R9360:Or7e168
|
UTSW |
9 |
19,720,529 (GRCm39) |
missense |
possibly damaging |
0.82 |
Z1177:Or7e168
|
UTSW |
9 |
19,719,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGACTCTCAGAGGACCCTGAAC -3'
(R):5'- TATTCCTGAGGCAGGGAGGAAACC -3'
Sequencing Primer
(F):5'- GGAAATGTTCTCATCATCTTGGC -3'
(R):5'- TTGTGACACCATAAAGCAGTGC -3'
|
Posted On |
2014-01-15 |