Incidental Mutation 'R6399:Or5aq7'
| ID |
516090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5aq7
|
| Ensembl Gene |
ENSMUSG00000075160 |
| Gene Name |
olfactory receptor family 5 subfamily AQ member 7 |
| Synonyms |
Olfr259, MOR172-3, GA_x6K02T2N869-1820-882 |
| MMRRC Submission |
044546-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6399 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
86937791-86938729 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86938330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 134
(V134I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099862]
[ENSMUST00000213978]
[ENSMUST00000215828]
[ENSMUST00000216088]
|
| AlphaFold |
Q7TS20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099862
AA Change: V134I
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000097448
Gene: ENSMUSG00000075160
AA Change: V134I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
3.6e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
5.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213978
AA Change: V134I
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215828
AA Change: V134I
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216088
AA Change: V134I
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
| Validation Efficiency |
97% (28/29) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
C |
5: 138,645,821 (GRCm39) |
C569R |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,031,784 (GRCm39) |
W207R |
probably damaging |
Het |
| Apbb2 |
C |
T |
5: 66,608,810 (GRCm39) |
|
probably null |
Het |
| Atad2b |
T |
C |
12: 5,007,558 (GRCm39) |
V415A |
probably damaging |
Het |
| Ccdc150 |
G |
A |
1: 54,303,116 (GRCm39) |
|
probably null |
Het |
| Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
| Chd7 |
A |
G |
4: 8,828,274 (GRCm39) |
T1072A |
probably damaging |
Het |
| Depdc1b |
T |
A |
13: 108,460,580 (GRCm39) |
F63L |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,344 (GRCm39) |
V2431M |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,458,882 (GRCm39) |
E2421G |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,894 (GRCm39) |
S543P |
probably damaging |
Het |
| Lrrc30 |
T |
A |
17: 67,939,681 (GRCm39) |
|
probably benign |
Het |
| Msh6 |
T |
A |
17: 88,294,319 (GRCm39) |
S1025T |
probably damaging |
Het |
| Ndrg3 |
C |
G |
2: 156,782,294 (GRCm39) |
A191P |
probably damaging |
Het |
| Or1o4 |
T |
C |
17: 37,590,666 (GRCm39) |
Y215C |
probably damaging |
Het |
| Or5p5 |
A |
G |
7: 107,413,961 (GRCm39) |
T57A |
possibly damaging |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Rnf34 |
T |
C |
5: 122,999,839 (GRCm39) |
F32L |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,676,834 (GRCm39) |
L205F |
probably benign |
Het |
| Tbc1d24 |
T |
A |
17: 24,427,303 (GRCm39) |
I220F |
probably damaging |
Het |
| Thsd7b |
A |
T |
1: 129,744,385 (GRCm39) |
T758S |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,282,562 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
C |
2: 76,556,407 (GRCm39) |
F30199L |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,556,406 (GRCm39) |
S30200R |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,447 (GRCm39) |
D1050G |
possibly damaging |
Het |
| Veph1 |
T |
A |
3: 66,033,312 (GRCm39) |
S605C |
probably benign |
Het |
| Wbp1 |
A |
G |
6: 83,096,982 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
C |
A |
18: 45,019,469 (GRCm39) |
Q1413K |
possibly damaging |
Het |
|
| Other mutations in Or5aq7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02264:Or5aq7
|
APN |
2 |
86,937,785 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02540:Or5aq7
|
APN |
2 |
86,938,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02572:Or5aq7
|
APN |
2 |
86,938,710 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2091:Or5aq7
|
UTSW |
2 |
86,938,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2928:Or5aq7
|
UTSW |
2 |
86,938,107 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4107:Or5aq7
|
UTSW |
2 |
86,937,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4332:Or5aq7
|
UTSW |
2 |
86,938,089 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4929:Or5aq7
|
UTSW |
2 |
86,938,527 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5027:Or5aq7
|
UTSW |
2 |
86,938,150 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6005:Or5aq7
|
UTSW |
2 |
86,938,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6191:Or5aq7
|
UTSW |
2 |
86,938,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6358:Or5aq7
|
UTSW |
2 |
86,938,778 (GRCm39) |
start gained |
probably benign |
|
|
R6554:Or5aq7
|
UTSW |
2 |
86,937,970 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7836:Or5aq7
|
UTSW |
2 |
86,937,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7881:Or5aq7
|
UTSW |
2 |
86,938,401 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8069:Or5aq7
|
UTSW |
2 |
86,938,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9322:Or5aq7
|
UTSW |
2 |
86,938,561 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9743:Or5aq7
|
UTSW |
2 |
86,937,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAGCATGCAAGCTTCAAAAG -3'
(R):5'- TCAGCTTCATACCCCAATGTAC -3'
Sequencing Primer
(F):5'- CTTCAAAAGAGGAGGAACATCAC -3'
(R):5'- GACATCTGCTATTCTACAATCATTGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation