Incidental Mutation 'R1621:Or2z9'
| ID |
174662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2z9
|
| Ensembl Gene |
ENSMUSG00000061561 |
| Gene Name |
olfactory receptor family 2 subfamily Z member 9 |
| Synonyms |
MOR282-1, GA_x6K02T2NUPS-231686-232630, Olfr373, MOR282-2 |
| MMRRC Submission |
039658-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.250)
|
| Stock # |
R1621 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72853606-72854550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72853973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 123
(Y123C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149452
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074540]
[ENSMUST00000213940]
[ENSMUST00000215198]
|
| AlphaFold |
E9Q4J3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074540
AA Change: Y123C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074128
Gene: ENSMUSG00000061561
AA Change: Y123C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
6.1e-57 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
253 |
6.5e-8 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
4.9e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213940
AA Change: Y123C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215198
AA Change: Y123C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 84.5%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
A |
G |
5: 137,564,041 (GRCm39) |
N253S |
probably benign |
Het |
| Adamts3 |
G |
A |
5: 89,869,560 (GRCm39) |
H272Y |
probably damaging |
Het |
| Arpc5l |
T |
C |
2: 38,903,913 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,977,245 (GRCm39) |
V4333I |
probably benign |
Het |
| Cd38 |
A |
G |
5: 44,058,866 (GRCm39) |
D160G |
probably benign |
Het |
| Cdc7 |
A |
G |
5: 107,112,920 (GRCm39) |
S13G |
probably benign |
Het |
| Chrm5 |
G |
T |
2: 112,310,182 (GRCm39) |
D311E |
probably benign |
Het |
| Ctns |
A |
G |
11: 73,079,298 (GRCm39) |
V140A |
possibly damaging |
Het |
| Ets2 |
A |
G |
16: 95,510,913 (GRCm39) |
D57G |
probably damaging |
Het |
| Fbxo36 |
T |
A |
1: 84,817,595 (GRCm39) |
M1K |
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,155,924 (GRCm39) |
I514K |
probably benign |
Het |
| G3bp2 |
A |
T |
5: 92,204,137 (GRCm39) |
F350I |
probably damaging |
Het |
| Hs3st3a1 |
G |
T |
11: 64,327,049 (GRCm39) |
V53F |
probably benign |
Het |
| Ippk |
T |
C |
13: 49,615,044 (GRCm39) |
S427P |
probably benign |
Het |
| Irgm2 |
T |
C |
11: 58,111,364 (GRCm39) |
F364L |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,046,113 (GRCm39) |
K29E |
probably benign |
Het |
| Map3k11 |
A |
G |
19: 5,740,834 (GRCm39) |
E187G |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 88,762,480 (GRCm39) |
M176V |
probably benign |
Het |
| Palm3 |
G |
A |
8: 84,756,651 (GRCm39) |
S721N |
possibly damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,935,873 (GRCm39) |
I1088V |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,226,170 (GRCm39) |
H69R |
probably benign |
Het |
| Pou2af1 |
C |
T |
9: 51,144,160 (GRCm39) |
H54Y |
probably damaging |
Het |
| Prl6a1 |
C |
T |
13: 27,501,993 (GRCm39) |
T120I |
probably benign |
Het |
| Psen2 |
A |
T |
1: 180,057,030 (GRCm39) |
F331L |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,237,866 (GRCm39) |
D724G |
probably damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,618,283 (GRCm39) |
*307R |
probably null |
Het |
| Slc39a6 |
T |
C |
18: 24,733,946 (GRCm39) |
K248E |
probably benign |
Het |
| Slco4a1 |
A |
T |
2: 180,112,925 (GRCm39) |
T386S |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,630,805 (GRCm39) |
I185V |
possibly damaging |
Het |
| Tmem94 |
A |
G |
11: 115,676,671 (GRCm39) |
S59G |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,641,433 (GRCm39) |
I392N |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,598,733 (GRCm39) |
I81T |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,589,027 (GRCm39) |
L893S |
probably benign |
Het |
|
| Other mutations in Or2z9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01592:Or2z9
|
APN |
8 |
72,854,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02440:Or2z9
|
APN |
8 |
72,854,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03403:Or2z9
|
APN |
8 |
72,854,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1099:Or2z9
|
UTSW |
8 |
72,854,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1418:Or2z9
|
UTSW |
8 |
72,854,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1452:Or2z9
|
UTSW |
8 |
72,854,020 (GRCm39) |
nonsense |
probably null |
|
|
R2021:Or2z9
|
UTSW |
8 |
72,853,930 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4230:Or2z9
|
UTSW |
8 |
72,854,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4290:Or2z9
|
UTSW |
8 |
72,853,612 (GRCm39) |
missense |
probably benign |
|
|
R5035:Or2z9
|
UTSW |
8 |
72,853,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6884:Or2z9
|
UTSW |
8 |
72,854,345 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6909:Or2z9
|
UTSW |
8 |
72,854,372 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7233:Or2z9
|
UTSW |
8 |
72,853,900 (GRCm39) |
missense |
probably benign |
|
|
R7304:Or2z9
|
UTSW |
8 |
72,854,190 (GRCm39) |
nonsense |
probably null |
|
|
R7312:Or2z9
|
UTSW |
8 |
72,853,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7701:Or2z9
|
UTSW |
8 |
72,854,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8789:Or2z9
|
UTSW |
8 |
72,854,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Or2z9
|
UTSW |
8 |
72,854,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATCATTGGCCTGCTAGGCAAC -3'
(R):5'- CATCTCACAGAAGAAGTGGTCCACG -3'
Sequencing Primer
(F):5'- TGATTGCCACAGACTCCAGG -3'
(R):5'- TCCACGGTGTGTGAGGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation