Incidental Mutation 'R4430:Or6c213'
| ID |
328572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c213
|
| Ensembl Gene |
ENSMUSG00000071065 |
| Gene Name |
olfactory receptor family 6 subfamily C member 213 |
| Synonyms |
MOR110-5, GA_x6K02T2PULF-11417610-11416669, Olfr806, MOR110-12 |
| MMRRC Submission |
041700-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R4430 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
129573843-129574784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129574130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 219
(I219F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095245]
[ENSMUST00000213239]
[ENSMUST00000215142]
|
| AlphaFold |
Q8VFI2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095245
AA Change: I219F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092873
Gene: ENSMUSG00000071065
AA Change: I219F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
306 |
2.6e-52 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
4.5e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178283
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204624
AA Change: I219F
|
| SMART Domains |
Protein: ENSMUSP00000144955
Gene: ENSMUSG00000071065
AA Change: I219F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
306 |
2.6e-52 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
4.5e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213239
AA Change: I219F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215142
AA Change: I219F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,963,348 (GRCm39) |
N926S |
unknown |
Het |
| Ahi1 |
T |
A |
10: 20,847,977 (GRCm39) |
C462S |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,980,404 (GRCm39) |
I563V |
probably benign |
Het |
| Ankrd55 |
G |
A |
13: 112,459,717 (GRCm39) |
|
probably null |
Het |
| Bag3 |
A |
G |
7: 128,125,647 (GRCm39) |
D22G |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,245,705 (GRCm39) |
F152S |
probably damaging |
Het |
| Cxcr2 |
T |
C |
1: 74,198,004 (GRCm39) |
I166T |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 117,946,746 (GRCm39) |
I3113V |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,764,974 (GRCm39) |
H1059R |
probably benign |
Het |
| Gm14412 |
C |
A |
2: 177,007,625 (GRCm39) |
S90I |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,388 (GRCm39) |
R528G |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,882,217 (GRCm39) |
L449* |
probably null |
Het |
| Mif4gd |
T |
C |
11: 115,499,328 (GRCm39) |
T185A |
probably benign |
Het |
| Mphosph9 |
T |
C |
5: 124,403,509 (GRCm39) |
S840G |
possibly damaging |
Het |
| Nherf4 |
C |
T |
9: 44,161,041 (GRCm39) |
S175N |
probably benign |
Het |
| Nim1k |
C |
A |
13: 120,174,078 (GRCm39) |
R272L |
possibly damaging |
Het |
| Or5b104 |
C |
T |
19: 13,072,452 (GRCm39) |
V187I |
probably benign |
Het |
| Or8k32 |
A |
G |
2: 86,368,731 (GRCm39) |
I176T |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,171,961 (GRCm39) |
V83A |
probably damaging |
Het |
| Pde3b |
C |
T |
7: 114,133,905 (GRCm39) |
P974S |
probably damaging |
Het |
| Pglyrp3 |
T |
A |
3: 91,938,798 (GRCm39) |
D324E |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,951,487 (GRCm39) |
Y521H |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,750,413 (GRCm39) |
S1953P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Sox5 |
A |
G |
6: 143,987,000 (GRCm39) |
I188T |
possibly damaging |
Het |
| Spata4 |
T |
C |
8: 55,054,878 (GRCm39) |
I86T |
probably benign |
Het |
| Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
| Stk10 |
T |
C |
11: 32,483,552 (GRCm39) |
V50A |
possibly damaging |
Het |
| Sytl4 |
A |
G,T |
X: 132,849,972 (GRCm39) |
S338R |
probably damaging |
Homo |
| Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmem201 |
A |
C |
4: 149,815,596 (GRCm39) |
V118G |
probably benign |
Het |
| Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
| Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,401,951 (GRCm39) |
M227V |
probably benign |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,519,449 (GRCm39) |
M503K |
probably benign |
Het |
| Zfp54 |
T |
G |
17: 21,655,222 (GRCm39) |
V572G |
probably damaging |
Het |
|
| Other mutations in Or6c213 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01875:Or6c213
|
APN |
10 |
129,574,791 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02090:Or6c213
|
APN |
10 |
129,574,181 (GRCm39) |
missense |
probably benign |
|
|
IGL02328:Or6c213
|
APN |
10 |
129,573,895 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02572:Or6c213
|
APN |
10 |
129,574,735 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1773:Or6c213
|
UTSW |
10 |
129,574,312 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1797:Or6c213
|
UTSW |
10 |
129,574,578 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5704:Or6c213
|
UTSW |
10 |
129,574,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6140:Or6c213
|
UTSW |
10 |
129,574,523 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6655:Or6c213
|
UTSW |
10 |
129,573,956 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6858:Or6c213
|
UTSW |
10 |
129,574,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7647:Or6c213
|
UTSW |
10 |
129,574,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7879:Or6c213
|
UTSW |
10 |
129,574,559 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8392:Or6c213
|
UTSW |
10 |
129,573,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8510:Or6c213
|
UTSW |
10 |
129,574,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8765:Or6c213
|
UTSW |
10 |
129,574,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774:Or6c213
|
UTSW |
10 |
129,573,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8774-TAIL:Or6c213
|
UTSW |
10 |
129,573,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCTGCTGGTTCCTTAGG -3'
(R):5'- CTCAAACTGGAATTCTGTGCTTCC -3'
Sequencing Primer
(F):5'- CCACAGAGGTGTTGAGCAC -3'
(R):5'- CTGTGCTTCCAAAACTGTAGATCAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation