Incidental Mutation 'R6451:Or6c69c'
| ID |
516352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c69c
|
| Ensembl Gene |
ENSMUSG00000058251 |
| Gene Name |
olfactory receptor family 6 subfamily C member 69C |
| Synonyms |
MOR113-2, Olfr822, GA_x6K02T2PULF-11745102-11746040 |
| MMRRC Submission |
044587-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R6451 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
129910281-129911219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129911007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 243
(M243L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080460]
[ENSMUST00000216879]
|
| AlphaFold |
Q8VFU1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080460
AA Change: M243L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000079316
Gene: ENSMUSG00000058251
AA Change: M243L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
307 |
1.1e-49 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
9.3e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216879
AA Change: M243L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
98% (39/40) |
| 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 |
|---|
| Abca7 |
T |
A |
10: 79,842,733 (GRCm39) |
V1164E |
probably damaging |
Het |
| Acnat2 |
A |
G |
4: 49,380,262 (GRCm39) |
V372A |
probably benign |
Het |
| Adam17 |
A |
T |
12: 21,392,883 (GRCm39) |
D313E |
probably benign |
Het |
| Adgrf5 |
A |
T |
17: 43,735,709 (GRCm39) |
R200* |
probably null |
Het |
| Akr1d1 |
G |
A |
6: 37,527,150 (GRCm39) |
E129K |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,787,230 (GRCm39) |
V382E |
probably damaging |
Het |
| Arhgef40 |
G |
A |
14: 52,238,456 (GRCm39) |
V1312I |
probably damaging |
Het |
| Bbs9 |
A |
G |
9: 22,479,060 (GRCm39) |
S168G |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,276,541 (GRCm39) |
K202* |
probably null |
Het |
| Cnep1r1 |
A |
G |
8: 88,846,438 (GRCm39) |
E19G |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,022,765 (GRCm39) |
Q1124L |
probably benign |
Het |
| Dph1 |
G |
T |
11: 75,072,143 (GRCm39) |
A242D |
probably damaging |
Het |
| Efcab7 |
T |
A |
4: 99,719,738 (GRCm39) |
Y73* |
probably null |
Het |
| Esp18 |
G |
T |
17: 39,720,853 (GRCm39) |
E33* |
probably null |
Het |
| Fbln2 |
T |
A |
6: 91,211,241 (GRCm39) |
I395K |
probably benign |
Het |
| Grin3a |
C |
T |
4: 49,844,969 (GRCm39) |
C38Y |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,956,105 (GRCm39) |
S1474T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,868,670 (GRCm39) |
V45M |
probably damaging |
Het |
| Intu |
T |
A |
3: 40,655,723 (GRCm39) |
F937I |
possibly damaging |
Het |
| Llgl2 |
G |
A |
11: 115,735,767 (GRCm39) |
G121D |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Nsmce4a |
G |
T |
7: 130,144,479 (GRCm39) |
|
|
Het |
| Or5w20 |
T |
C |
2: 87,726,935 (GRCm39) |
Y131H |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 43,286,469 (GRCm39) |
V590E |
probably damaging |
Het |
| Pigo |
G |
A |
4: 43,021,412 (GRCm39) |
S510L |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Rnf19a |
A |
G |
15: 36,253,205 (GRCm39) |
I378T |
possibly damaging |
Het |
| Rnf216 |
G |
T |
5: 142,978,589 (GRCm39) |
P793T |
possibly damaging |
Het |
| Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
| Son |
T |
A |
16: 91,454,490 (GRCm39) |
M1079K |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,624,596 (GRCm39) |
M166K |
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,044,767 (GRCm39) |
E1468K |
probably damaging |
Het |
| Taar3 |
A |
T |
10: 23,825,705 (GRCm39) |
I84F |
possibly damaging |
Het |
| Tas2r107 |
T |
A |
6: 131,636,977 (GRCm39) |
D24V |
possibly damaging |
Het |
| Tmc2 |
A |
G |
2: 130,106,123 (GRCm39) |
R885G |
probably damaging |
Het |
| Tox3 |
C |
A |
8: 90,984,687 (GRCm39) |
R164L |
probably benign |
Het |
| Ttc5 |
A |
G |
14: 51,004,664 (GRCm39) |
I380T |
probably damaging |
Het |
| Vmn1r179 |
A |
G |
7: 23,628,076 (GRCm39) |
N89S |
possibly damaging |
Het |
| Zfp944 |
T |
C |
17: 22,557,846 (GRCm39) |
E467G |
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,813,982 (GRCm39) |
D2857V |
possibly damaging |
Het |
|
| Other mutations in Or6c69c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01624:Or6c69c
|
APN |
10 |
129,910,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01975:Or6c69c
|
APN |
10 |
129,911,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02354:Or6c69c
|
APN |
10 |
129,911,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02361:Or6c69c
|
APN |
10 |
129,911,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03184:Or6c69c
|
APN |
10 |
129,910,627 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03197:Or6c69c
|
APN |
10 |
129,910,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03343:Or6c69c
|
APN |
10 |
129,911,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Or6c69c
|
UTSW |
10 |
129,910,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1288:Or6c69c
|
UTSW |
10 |
129,911,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1502:Or6c69c
|
UTSW |
10 |
129,910,741 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1527:Or6c69c
|
UTSW |
10 |
129,911,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3771:Or6c69c
|
UTSW |
10 |
129,911,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Or6c69c
|
UTSW |
10 |
129,910,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5472:Or6c69c
|
UTSW |
10 |
129,910,898 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5552:Or6c69c
|
UTSW |
10 |
129,911,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6986:Or6c69c
|
UTSW |
10 |
129,911,199 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8101:Or6c69c
|
UTSW |
10 |
129,910,875 (GRCm39) |
missense |
probably benign |
|
|
R8468:Or6c69c
|
UTSW |
10 |
129,910,303 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8785:Or6c69c
|
UTSW |
10 |
129,910,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8988:Or6c69c
|
UTSW |
10 |
129,910,522 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9083:Or6c69c
|
UTSW |
10 |
129,910,969 (GRCm39) |
missense |
probably benign |
|
|
R9083:Or6c69c
|
UTSW |
10 |
129,910,941 (GRCm39) |
missense |
probably benign |
|
|
R9084:Or6c69c
|
UTSW |
10 |
129,910,969 (GRCm39) |
missense |
probably benign |
|
|
R9084:Or6c69c
|
UTSW |
10 |
129,910,941 (GRCm39) |
missense |
probably benign |
|
|
R9366:Or6c69c
|
UTSW |
10 |
129,911,067 (GRCm39) |
nonsense |
probably null |
|
|
R9773:Or6c69c
|
UTSW |
10 |
129,910,360 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
X0024:Or6c69c
|
UTSW |
10 |
129,910,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Or6c69c
|
UTSW |
10 |
129,910,973 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGAATCTCGACTTCTGTGC -3'
(R):5'- AATGAATGCCCTTTTCACTTGC -3'
Sequencing Primer
(F):5'- GATCATTTCTACTGTGACACAACTC -3'
(R):5'- CACTTGCTGATTCCTCAAGGTGTAG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation