Incidental Mutation 'R5477:Or6z6'
| ID |
434114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6z6
|
| Ensembl Gene |
ENSMUSG00000034583 |
| Gene Name |
olfactory receptor family 6 subfamily Z member 6 |
| Synonyms |
Olfr1347, GA_x6K02T2QGBW-3218686-3217748, MOR103-11, MOR103-19_i |
| MMRRC Submission |
043038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R5477 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
6490912-6491871 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6491570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 94
(Y94C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036357]
[ENSMUST00000086318]
[ENSMUST00000207339]
[ENSMUST00000209055]
[ENSMUST00000209866]
[ENSMUST00000220413]
|
| AlphaFold |
Q8VF33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036357
AA Change: Y94C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046590
Gene: ENSMUSG00000034583
AA Change: Y94C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
42 |
318 |
2.5e-50 |
PFAM |
|
Pfam:7tm_1
|
52 |
301 |
2.3e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086318
|
| SMART Domains |
Protein: ENSMUSP00000083498
Gene: ENSMUSG00000096228
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
311 |
2.1e-50 |
PFAM |
|
Pfam:7tm_1
|
45 |
294 |
6.9e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207339
AA Change: Y94C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209055
AA Change: Y94C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220413
AA Change: Y101C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 90.9%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Aacs |
T |
C |
5: 125,588,984 (GRCm39) |
Y421H |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,251,298 (GRCm39) |
K2890R |
possibly damaging |
Het |
| Aff4 |
T |
A |
11: 53,299,299 (GRCm39) |
|
probably null |
Het |
| Brd10 |
A |
G |
19: 29,731,518 (GRCm39) |
V498A |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,650,911 (GRCm39) |
Q698L |
possibly damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,487,164 (GRCm39) |
M157V |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Gm10521 |
T |
A |
1: 171,724,067 (GRCm39) |
M126K |
unknown |
Het |
| Hs2st1 |
A |
G |
3: 144,262,709 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
T |
C |
14: 57,937,010 (GRCm39) |
D113G |
probably benign |
Het |
| Myo15a |
A |
C |
11: 60,368,503 (GRCm39) |
D421A |
probably damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,107 (GRCm39) |
I159F |
probably benign |
Het |
| Or5k17 |
A |
T |
16: 58,746,393 (GRCm39) |
D180E |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,784,308 (GRCm39) |
D234V |
probably benign |
Het |
| Parl |
G |
T |
16: 20,098,824 (GRCm39) |
T311K |
possibly damaging |
Het |
| Pias3 |
G |
A |
3: 96,612,319 (GRCm39) |
R557H |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,656,511 (GRCm39) |
R396C |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,289,642 (GRCm39) |
D390G |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,720,542 (GRCm39) |
P2702Q |
probably damaging |
Het |
| Senp6 |
C |
A |
9: 80,051,125 (GRCm39) |
A961D |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,294,146 (GRCm39) |
S503P |
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,394,193 (GRCm39) |
V21A |
possibly damaging |
Het |
| Sox7 |
A |
G |
14: 64,185,945 (GRCm39) |
Y327C |
probably damaging |
Het |
| Spdl1 |
A |
T |
11: 34,713,037 (GRCm39) |
F288I |
possibly damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,812,244 (GRCm39) |
M127K |
probably damaging |
Het |
| Sspo |
A |
C |
6: 48,475,327 (GRCm39) |
S5032R |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,726,206 (GRCm39) |
W973R |
probably damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,174 (GRCm39) |
T130I |
probably benign |
Het |
| Top2a |
T |
A |
11: 98,907,306 (GRCm39) |
K175* |
probably null |
Het |
| Trim30d |
T |
A |
7: 104,121,347 (GRCm39) |
Y316F |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,653 (GRCm39) |
P297L |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,949,378 (GRCm39) |
Y194C |
probably damaging |
Het |
|
| Other mutations in Or6z6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02395:Or6z6
|
APN |
7 |
6,491,802 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0277:Or6z6
|
UTSW |
7 |
6,491,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0891:Or6z6
|
UTSW |
7 |
6,491,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1394:Or6z6
|
UTSW |
7 |
6,491,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:Or6z6
|
UTSW |
7 |
6,491,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1503:Or6z6
|
UTSW |
7 |
6,491,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3014:Or6z6
|
UTSW |
7 |
6,491,470 (GRCm39) |
nonsense |
probably null |
|
|
R5194:Or6z6
|
UTSW |
7 |
6,491,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6137:Or6z6
|
UTSW |
7 |
6,491,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6212:Or6z6
|
UTSW |
7 |
6,491,367 (GRCm39) |
splice site |
probably null |
|
|
R6706:Or6z6
|
UTSW |
7 |
6,491,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7444:Or6z6
|
UTSW |
7 |
6,490,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Or6z6
|
UTSW |
7 |
6,491,697 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Or6z6
|
UTSW |
7 |
6,491,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Or6z6
|
UTSW |
7 |
6,491,203 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCTTGCAATGCATTTTGTC -3'
(R):5'- TGAGTCTCTACCTGCTGACC -3'
Sequencing Primer
(F):5'- TGTCTTTATCGCCGAGACCACAAG -3'
(R):5'- TGCTGACCCTCCTGGAGAAC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation