Incidental Mutation 'R6120:Or6c215'
| ID |
485723 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c215
|
| Ensembl Gene |
ENSMUSG00000063173 |
| Gene Name |
olfactory receptor family 6 subfamily C member 215 |
| Synonyms |
GA_x6K02T2PULF-11481207-11480248, MOR110-6, Olfr811 |
| MMRRC Submission |
044268-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6120 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
129637433-129638392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129637689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 235
(A235V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076437]
[ENSMUST00000215058]
[ENSMUST00000217571]
|
| AlphaFold |
Q8VFI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076437
AA Change: A235V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075768
Gene: ENSMUSG00000063173
AA Change: A235V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
306 |
1.1e-51 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.5e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215058
AA Change: A235V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216283
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217571
AA Change: A235V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.3021 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.6%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,638,795 (GRCm39) |
V398E |
possibly damaging |
Het |
| Ankef1 |
A |
G |
2: 136,392,296 (GRCm39) |
N495S |
probably benign |
Het |
| Bpifb3 |
G |
T |
2: 153,773,363 (GRCm39) |
V428L |
probably benign |
Het |
| Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
A |
G |
18: 22,230,785 (GRCm39) |
L362S |
probably benign |
Het |
| Ccdc33 |
G |
A |
9: 57,993,883 (GRCm39) |
P88S |
probably damaging |
Het |
| Cdk14 |
A |
T |
5: 4,944,029 (GRCm39) |
D385E |
probably damaging |
Het |
| Chrna4 |
A |
G |
2: 180,666,599 (GRCm39) |
L613P |
probably damaging |
Het |
| Cnot3 |
T |
A |
7: 3,648,335 (GRCm39) |
|
probably null |
Het |
| Csf1 |
T |
A |
3: 107,661,170 (GRCm39) |
I116L |
probably damaging |
Het |
| Csrp2 |
G |
T |
10: 110,775,140 (GRCm39) |
A192S |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,038,225 (GRCm39) |
T104A |
probably benign |
Het |
| Eml1 |
C |
T |
12: 108,493,983 (GRCm39) |
P593S |
probably damaging |
Het |
| Entpd2 |
T |
A |
2: 25,289,478 (GRCm39) |
I320N |
probably benign |
Het |
| Exosc9 |
A |
T |
3: 36,608,821 (GRCm39) |
N140I |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,244 (GRCm39) |
T2667A |
probably benign |
Het |
| Fes |
T |
C |
7: 80,030,615 (GRCm39) |
D558G |
probably damaging |
Het |
| Fgfr2 |
G |
T |
7: 129,830,420 (GRCm39) |
T186K |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,400,826 (GRCm39) |
E1075G |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,267,760 (GRCm39) |
I1203V |
possibly damaging |
Het |
| Gja1 |
T |
A |
10: 56,264,601 (GRCm39) |
M320K |
probably benign |
Het |
| Gm5431 |
A |
G |
11: 48,785,608 (GRCm39) |
Y256H |
probably benign |
Het |
| Gpr20 |
C |
T |
15: 73,567,853 (GRCm39) |
V179M |
probably damaging |
Het |
| Greb1 |
T |
G |
12: 16,758,622 (GRCm39) |
D698A |
probably damaging |
Het |
| Hook2 |
A |
G |
8: 85,724,754 (GRCm39) |
E500G |
probably damaging |
Het |
| Kif13b |
A |
T |
14: 64,989,007 (GRCm39) |
N796I |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 92,952,296 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,087,612 (GRCm39) |
|
probably null |
Het |
| Mfsd1 |
C |
T |
3: 67,501,718 (GRCm39) |
Q246* |
probably null |
Het |
| Mkrn3 |
A |
G |
7: 62,069,282 (GRCm39) |
S170P |
probably benign |
Het |
| Ms4a6b |
A |
G |
19: 11,499,059 (GRCm39) |
M58V |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,577,169 (GRCm39) |
V2223A |
unknown |
Het |
| Mycbp2 |
A |
T |
14: 103,513,323 (GRCm39) |
V811D |
probably benign |
Het |
| Or5p59 |
A |
T |
7: 107,703,340 (GRCm39) |
N275Y |
probably damaging |
Het |
| Or9g4b |
T |
C |
2: 85,616,685 (GRCm39) |
F277L |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,643,031 (GRCm39) |
E436G |
probably damaging |
Het |
| Pet100 |
T |
G |
8: 3,671,764 (GRCm39) |
|
probably null |
Het |
| Pira2 |
A |
G |
7: 3,844,553 (GRCm39) |
Y493H |
probably damaging |
Het |
| Prkdc |
C |
A |
16: 15,557,335 (GRCm39) |
R2213S |
probably benign |
Het |
| Prmt2 |
A |
G |
10: 76,045,280 (GRCm39) |
I342T |
possibly damaging |
Het |
| Psmc6 |
A |
G |
14: 45,586,130 (GRCm39) |
E381G |
possibly damaging |
Het |
| Rrm1 |
G |
A |
7: 102,110,063 (GRCm39) |
|
probably null |
Het |
| Sema3c |
A |
G |
5: 17,932,630 (GRCm39) |
D711G |
probably benign |
Het |
| Sgcb |
T |
C |
5: 73,798,153 (GRCm39) |
E103G |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,848 (GRCm39) |
S957P |
probably damaging |
Het |
| Slc26a2 |
A |
G |
18: 61,332,489 (GRCm39) |
V314A |
possibly damaging |
Het |
| Smarca5 |
G |
T |
8: 81,438,372 (GRCm39) |
H655N |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,442,510 (GRCm39) |
S2002T |
probably damaging |
Het |
| Sync |
T |
C |
4: 129,187,544 (GRCm39) |
L192P |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,090,800 (GRCm39) |
M477T |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Vcam1 |
A |
G |
3: 115,918,049 (GRCm39) |
V304A |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,565,003 (GRCm39) |
W297R |
probably damaging |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,973 (GRCm39) |
M69L |
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,226,515 (GRCm39) |
D771G |
probably damaging |
Het |
|
| Other mutations in Or6c215 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00945:Or6c215
|
APN |
10 |
129,637,776 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01957:Or6c215
|
APN |
10 |
129,638,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02394:Or6c215
|
APN |
10 |
129,638,182 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02451:Or6c215
|
APN |
10 |
129,637,702 (GRCm39) |
nonsense |
probably null |
|
|
IGL03111:Or6c215
|
APN |
10 |
129,637,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03369:Or6c215
|
APN |
10 |
129,638,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0704:Or6c215
|
UTSW |
10 |
129,638,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1393:Or6c215
|
UTSW |
10 |
129,637,801 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1941:Or6c215
|
UTSW |
10 |
129,638,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1994:Or6c215
|
UTSW |
10 |
129,637,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3427:Or6c215
|
UTSW |
10 |
129,637,720 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4296:Or6c215
|
UTSW |
10 |
129,638,169 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4937:Or6c215
|
UTSW |
10 |
129,637,932 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5016:Or6c215
|
UTSW |
10 |
129,637,662 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5615:Or6c215
|
UTSW |
10 |
129,637,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5662:Or6c215
|
UTSW |
10 |
129,638,176 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5750:Or6c215
|
UTSW |
10 |
129,637,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6109:Or6c215
|
UTSW |
10 |
129,637,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6109:Or6c215
|
UTSW |
10 |
129,637,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Or6c215
|
UTSW |
10 |
129,637,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6110:Or6c215
|
UTSW |
10 |
129,637,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6117:Or6c215
|
UTSW |
10 |
129,637,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6117:Or6c215
|
UTSW |
10 |
129,637,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Or6c215
|
UTSW |
10 |
129,637,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6119:Or6c215
|
UTSW |
10 |
129,637,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6120:Or6c215
|
UTSW |
10 |
129,637,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6124:Or6c215
|
UTSW |
10 |
129,637,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6124:Or6c215
|
UTSW |
10 |
129,637,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Or6c215
|
UTSW |
10 |
129,638,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6440:Or6c215
|
UTSW |
10 |
129,637,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6559:Or6c215
|
UTSW |
10 |
129,637,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6707:Or6c215
|
UTSW |
10 |
129,637,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Or6c215
|
UTSW |
10 |
129,637,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6868:Or6c215
|
UTSW |
10 |
129,638,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8024:Or6c215
|
UTSW |
10 |
129,637,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8956:Or6c215
|
UTSW |
10 |
129,638,222 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9012:Or6c215
|
UTSW |
10 |
129,637,471 (GRCm39) |
missense |
probably benign |
|
|
R9029:Or6c215
|
UTSW |
10 |
129,637,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9030:Or6c215
|
UTSW |
10 |
129,637,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9038:Or6c215
|
UTSW |
10 |
129,637,564 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9389:Or6c215
|
UTSW |
10 |
129,637,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Or6c215
|
UTSW |
10 |
129,637,497 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Or6c215
|
UTSW |
10 |
129,638,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAAGCTTCCTTCACCTGCTG -3'
(R):5'- TTTGTGCCTCCAAAACAATAGACC -3'
Sequencing Primer
(F):5'- CACCTGCTGATTCCTTAGGGTG -3'
(R):5'- ATAGACCACTTCCTGTGTGACAG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation