Incidental Mutation 'R5843:Or2aj4'
ID |
450561 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or2aj4
|
Ensembl Gene |
ENSMUSG00000068535 |
Gene Name |
olfactory receptor family 2 subfamily AJ member 4 |
Synonyms |
GA_x54KRFPKG5P-16014972-16014031, MOR273-3P, Olfr169 |
MMRRC Submission |
043224-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R5843 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
19384690-19385631 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 19385333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 100
(Q100L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150528
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090062]
[ENSMUST00000215040]
[ENSMUST00000215476]
[ENSMUST00000216070]
|
AlphaFold |
Q7TS53 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090062
AA Change: Q100L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087516 Gene: ENSMUSG00000068535 AA Change: Q100L
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
28 |
308 |
1.3e-45 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
35 |
303 |
2e-6 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
7.4e-29 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215040
AA Change: Q100L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000215476
AA Change: Q100L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216070
AA Change: Q100L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
A |
G |
1: 89,537,272 (GRCm39) |
T93A |
probably damaging |
Het |
Atp6v1h |
T |
A |
1: 5,232,312 (GRCm39) |
|
probably null |
Het |
Ccnk |
T |
C |
12: 108,159,989 (GRCm39) |
V157A |
probably damaging |
Het |
Cdh10 |
T |
C |
15: 18,985,286 (GRCm39) |
F317L |
possibly damaging |
Het |
Chn1 |
A |
G |
2: 73,510,092 (GRCm39) |
I139T |
probably benign |
Het |
Creld2 |
A |
T |
15: 88,710,632 (GRCm39) |
D349V |
probably damaging |
Het |
Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,854,289 (GRCm39) |
D1660G |
probably damaging |
Het |
Hipk3 |
A |
C |
2: 104,270,569 (GRCm39) |
S470R |
possibly damaging |
Het |
Hook2 |
T |
A |
8: 85,717,912 (GRCm39) |
I37K |
probably damaging |
Het |
Hpcal1 |
T |
C |
12: 17,841,200 (GRCm39) |
F193L |
probably benign |
Het |
Hps4 |
T |
C |
5: 112,497,296 (GRCm39) |
|
probably null |
Het |
Iqgap1 |
T |
C |
7: 80,375,828 (GRCm39) |
N1349S |
probably benign |
Het |
Khk |
A |
G |
5: 31,079,275 (GRCm39) |
I6V |
possibly damaging |
Het |
Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
Lrch3 |
T |
C |
16: 32,818,896 (GRCm39) |
V629A |
probably damaging |
Het |
Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
Muc13 |
A |
G |
16: 33,626,421 (GRCm39) |
Y320C |
probably damaging |
Het |
Or2y1b |
A |
T |
11: 49,209,076 (GRCm39) |
R234S |
probably benign |
Het |
Or5ac21 |
T |
A |
16: 59,123,724 (GRCm39) |
D69E |
probably damaging |
Het |
Parpbp |
A |
G |
10: 87,969,053 (GRCm39) |
L131P |
probably damaging |
Het |
Prl3a1 |
T |
C |
13: 27,454,093 (GRCm39) |
W24R |
probably damaging |
Het |
Ptprk |
T |
A |
10: 28,369,060 (GRCm39) |
N677K |
probably damaging |
Het |
Rbm39 |
A |
T |
2: 156,004,793 (GRCm39) |
D181E |
possibly damaging |
Het |
Ros1 |
T |
C |
10: 52,042,293 (GRCm39) |
T220A |
possibly damaging |
Het |
Slc46a3 |
T |
C |
5: 147,823,021 (GRCm39) |
I274V |
probably benign |
Het |
Tas2r104 |
T |
A |
6: 131,661,938 (GRCm39) |
N257I |
probably damaging |
Het |
Timeless |
A |
G |
10: 128,080,113 (GRCm39) |
|
probably null |
Het |
Tmem63a |
T |
C |
1: 180,800,398 (GRCm39) |
|
probably null |
Het |
Traf5 |
T |
C |
1: 191,729,446 (GRCm39) |
D535G |
possibly damaging |
Het |
Trank1 |
C |
T |
9: 111,194,928 (GRCm39) |
S984L |
possibly damaging |
Het |
Trpm6 |
A |
G |
19: 18,833,539 (GRCm39) |
T1573A |
probably benign |
Het |
Ube3b |
T |
A |
5: 114,550,360 (GRCm39) |
I835N |
probably damaging |
Het |
Wnt16 |
T |
A |
6: 22,290,947 (GRCm39) |
I125N |
probably damaging |
Het |
Xirp2 |
G |
T |
2: 67,307,129 (GRCm39) |
|
probably benign |
Het |
Zbtb47 |
T |
C |
9: 121,596,405 (GRCm39) |
F624S |
possibly damaging |
Het |
Zc3h12c |
G |
T |
9: 52,027,982 (GRCm39) |
T460K |
probably benign |
Het |
Zfp865 |
C |
A |
7: 5,033,416 (GRCm39) |
T467K |
probably benign |
Het |
Zim1 |
A |
G |
7: 6,680,697 (GRCm39) |
V322A |
possibly damaging |
Het |
|
Other mutations in Or2aj4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01080:Or2aj4
|
APN |
16 |
19,384,958 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01862:Or2aj4
|
APN |
16 |
19,385,426 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02064:Or2aj4
|
APN |
16 |
19,385,298 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03061:Or2aj4
|
APN |
16 |
19,385,463 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL03136:Or2aj4
|
APN |
16 |
19,385,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R0066:Or2aj4
|
UTSW |
16 |
19,384,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R0243:Or2aj4
|
UTSW |
16 |
19,385,044 (GRCm39) |
missense |
probably damaging |
0.97 |
R0629:Or2aj4
|
UTSW |
16 |
19,384,730 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1644:Or2aj4
|
UTSW |
16 |
19,385,156 (GRCm39) |
missense |
probably benign |
0.11 |
R1943:Or2aj4
|
UTSW |
16 |
19,385,187 (GRCm39) |
missense |
probably benign |
0.19 |
R3016:Or2aj4
|
UTSW |
16 |
19,385,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R4290:Or2aj4
|
UTSW |
16 |
19,384,994 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4689:Or2aj4
|
UTSW |
16 |
19,385,263 (GRCm39) |
nonsense |
probably null |
|
R4791:Or2aj4
|
UTSW |
16 |
19,385,413 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5497:Or2aj4
|
UTSW |
16 |
19,385,080 (GRCm39) |
missense |
probably benign |
0.10 |
R6106:Or2aj4
|
UTSW |
16 |
19,385,009 (GRCm39) |
missense |
probably damaging |
0.99 |
R6249:Or2aj4
|
UTSW |
16 |
19,384,725 (GRCm39) |
missense |
probably damaging |
0.99 |
R7895:Or2aj4
|
UTSW |
16 |
19,385,472 (GRCm39) |
nonsense |
probably null |
|
R9284:Or2aj4
|
UTSW |
16 |
19,385,357 (GRCm39) |
missense |
probably damaging |
1.00 |
R9335:Or2aj4
|
UTSW |
16 |
19,385,513 (GRCm39) |
missense |
probably benign |
0.32 |
R9364:Or2aj4
|
UTSW |
16 |
19,384,722 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9404:Or2aj4
|
UTSW |
16 |
19,384,731 (GRCm39) |
missense |
probably benign |
0.01 |
R9475:Or2aj4
|
UTSW |
16 |
19,385,270 (GRCm39) |
missense |
probably benign |
0.09 |
R9554:Or2aj4
|
UTSW |
16 |
19,384,722 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Predicted Primers |
PCR Primer
(F):5'- CAATGGCTCTTGAGTGGCAG -3'
(R):5'- AAATGCCCTCATGATCCTCCTAATC -3'
Sequencing Primer
(F):5'- GTGCAAAAACTGTGTGTACTATGG -3'
(R):5'- TGATCCTCCTAATCCACAGGG -3'
|
Posted On |
2016-12-20 |