Incidental Mutation 'R7507:Or6c209'
| ID |
581854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c209
|
| Ensembl Gene |
ENSMUSG00000094734 |
| Gene Name |
olfactory receptor family 6 subfamily C member 209 |
| Synonyms |
GA_x6K02T2PULF-11325750-11326685, MOR114-2, Olfr799 |
| MMRRC Submission |
045580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R7507 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
129482999-129483934 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 129483366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 123
(I123N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071126]
[ENSMUST00000213820]
[ENSMUST00000214182]
[ENSMUST00000216446]
[ENSMUST00000217364]
|
| AlphaFold |
Q8VGI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071126
AA Change: I123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071126
Gene: ENSMUSG00000094734
AA Change: I123N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
305 |
6e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
32 |
302 |
6e-7 |
PFAM |
|
Pfam:7tm_1
|
38 |
287 |
7.7e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213820
AA Change: I123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214182
AA Change: I123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216446
AA Change: I123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217364
AA Change: I123N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2310 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (43/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,652,177 (GRCm39) |
T1359S |
probably benign |
Het |
| Adam8 |
C |
T |
7: 139,567,091 (GRCm39) |
|
probably null |
Het |
| Adnp2 |
A |
G |
18: 80,174,068 (GRCm39) |
S114P |
probably benign |
Het |
| BC051019 |
T |
A |
7: 109,315,475 (GRCm39) |
D260V |
possibly damaging |
Het |
| Btnl10 |
A |
G |
11: 58,811,384 (GRCm39) |
T236A |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 119,034,200 (GRCm39) |
L109Q |
|
Het |
| Clint1 |
C |
A |
11: 45,799,776 (GRCm39) |
Q512K |
possibly damaging |
Het |
| Dop1a |
A |
G |
9: 86,418,002 (GRCm39) |
N1957S |
probably benign |
Het |
| Gosr1 |
A |
T |
11: 76,645,240 (GRCm39) |
N101K |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,119,765 (GRCm39) |
T350A |
probably benign |
Het |
| Hs3st5 |
T |
A |
10: 36,709,011 (GRCm39) |
V182D |
probably damaging |
Het |
| Igkv4-80 |
G |
T |
6: 68,993,677 (GRCm39) |
S71R |
probably benign |
Het |
| Kif2b |
A |
G |
11: 91,468,269 (GRCm39) |
F5L |
probably benign |
Het |
| Med1 |
A |
G |
11: 98,048,852 (GRCm39) |
L648P |
probably damaging |
Het |
| Mgat4a |
G |
A |
1: 37,491,608 (GRCm39) |
L375F |
probably damaging |
Het |
| Mlph |
A |
T |
1: 90,855,429 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,274,626 (GRCm39) |
S346P |
probably damaging |
Het |
| Nhlrc2 |
G |
A |
19: 56,585,810 (GRCm39) |
V682I |
not run |
Het |
| Nos3 |
T |
C |
5: 24,577,642 (GRCm39) |
M552T |
probably damaging |
Het |
| Or4e2 |
A |
G |
14: 52,687,930 (GRCm39) |
N20S |
probably benign |
Het |
| Or5w19 |
T |
C |
2: 87,698,713 (GRCm39) |
I126T |
probably damaging |
Het |
| Pcdha5 |
A |
T |
18: 37,093,909 (GRCm39) |
R139S |
probably benign |
Het |
| Pik3r1 |
G |
A |
13: 101,845,490 (GRCm39) |
S147L |
probably benign |
Het |
| Plppr4 |
T |
A |
3: 117,115,754 (GRCm39) |
H701L |
possibly damaging |
Het |
| Pnpla1 |
T |
C |
17: 29,095,791 (GRCm39) |
Y71H |
probably damaging |
Het |
| Ppp1r12c |
G |
A |
7: 4,486,970 (GRCm39) |
A521V |
probably benign |
Het |
| Rasgrp3 |
C |
A |
17: 75,804,055 (GRCm39) |
D119E |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,075,557 (GRCm39) |
D342E |
probably damaging |
Het |
| Rnpc3 |
A |
T |
3: 113,410,410 (GRCm39) |
S294T |
probably benign |
Het |
| Sepsecs |
A |
G |
5: 52,801,397 (GRCm39) |
F422L |
probably damaging |
Het |
| Sgcz |
T |
A |
8: 38,420,200 (GRCm39) |
E17D |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,210,107 (GRCm39) |
Y31H |
probably damaging |
Het |
| Spag9 |
A |
G |
11: 93,958,906 (GRCm39) |
E310G |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,117,733 (GRCm39) |
Y288C |
probably damaging |
Het |
| Tet1 |
A |
G |
10: 62,668,671 (GRCm39) |
|
probably null |
Het |
| Trim62 |
A |
G |
4: 128,790,664 (GRCm39) |
T154A |
probably benign |
Het |
| Tubb4a |
T |
C |
17: 57,388,642 (GRCm39) |
D128G |
probably damaging |
Het |
| Ube3d |
G |
A |
9: 86,304,939 (GRCm39) |
A301V |
possibly damaging |
Het |
| Utp6 |
A |
G |
11: 79,833,012 (GRCm39) |
S444P |
possibly damaging |
Het |
| Vasn |
T |
C |
16: 4,467,345 (GRCm39) |
C431R |
probably damaging |
Het |
| Zfp260 |
T |
C |
7: 29,804,291 (GRCm39) |
S64P |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,808,840 (GRCm39) |
M1007K |
probably damaging |
Het |
| Zfp606 |
C |
A |
7: 12,226,868 (GRCm39) |
Q330K |
probably benign |
Het |
|
| Other mutations in Or6c209 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00335:Or6c209
|
APN |
10 |
129,483,306 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01079:Or6c209
|
APN |
10 |
129,483,243 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01095:Or6c209
|
APN |
10 |
129,483,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0080:Or6c209
|
UTSW |
10 |
129,483,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0082:Or6c209
|
UTSW |
10 |
129,483,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0268:Or6c209
|
UTSW |
10 |
129,483,045 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0310:Or6c209
|
UTSW |
10 |
129,483,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0315:Or6c209
|
UTSW |
10 |
129,483,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Or6c209
|
UTSW |
10 |
129,483,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1257:Or6c209
|
UTSW |
10 |
129,483,413 (GRCm39) |
nonsense |
probably null |
|
|
R2355:Or6c209
|
UTSW |
10 |
129,483,711 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4905:Or6c209
|
UTSW |
10 |
129,483,792 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5706:Or6c209
|
UTSW |
10 |
129,483,960 (GRCm39) |
splice site |
probably null |
|
|
R5961:Or6c209
|
UTSW |
10 |
129,483,723 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6233:Or6c209
|
UTSW |
10 |
129,483,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6843:Or6c209
|
UTSW |
10 |
129,483,048 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7426:Or6c209
|
UTSW |
10 |
129,483,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Or6c209
|
UTSW |
10 |
129,483,281 (GRCm39) |
missense |
probably benign |
|
|
R8315:Or6c209
|
UTSW |
10 |
129,483,522 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9153:Or6c209
|
UTSW |
10 |
129,483,306 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGGGTCTGACAGATGAC -3'
(R):5'- GAGAGGAGCTGCATCACAAC -3'
Sequencing Primer
(F):5'- TCTGACAGATGACATTAGGCTGC -3'
(R):5'- GAGCTGCATCACAACAAAAATGGTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation