Incidental Mutation 'R6591:Or8k53'
| ID |
524549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8k53
|
| Ensembl Gene |
ENSMUSG00000075189 |
| Gene Name |
olfactory receptor family 8 subfamily K member 53 |
| Synonyms |
MOR186-1, GA_x6K02T2Q125-47819205-47818258, Olfr1055 |
| MMRRC Submission |
044715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6591 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
86177068-86178108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 86177763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 116
(S116A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099894]
[ENSMUST00000188023]
[ENSMUST00000213564]
|
| AlphaFold |
A2AVX9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099894
AA Change: S116A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097479
Gene: ENSMUSG00000075189
AA Change: S116A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
7.3e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188023
AA Change: S116A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140847
Gene: ENSMUSG00000075189
AA Change: S116A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
290 |
5.7e-30 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
9.2e-40 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213564
AA Change: S116A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (34/34) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,369,624 (GRCm39) |
D337G |
probably benign |
Het |
| Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
| Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
| Cd209c |
T |
A |
8: 3,995,680 (GRCm39) |
I41L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,149 (GRCm39) |
V185D |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,321,762 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cldn8 |
T |
C |
16: 88,359,423 (GRCm39) |
I167M |
possibly damaging |
Het |
| Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
| Dusp11 |
T |
C |
6: 85,938,507 (GRCm39) |
H4R |
possibly damaging |
Het |
| Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
| Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
| Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,970 (GRCm39) |
V192A |
probably benign |
Het |
| Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
| Parp3 |
A |
G |
9: 106,350,891 (GRCm39) |
S329P |
probably benign |
Het |
| Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,557,544 (GRCm39) |
E252D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
| Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,378 (GRCm39) |
E179G |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
Het |
| Zfp354c |
A |
G |
11: 50,705,602 (GRCm39) |
I491T |
probably benign |
Het |
|
| Other mutations in Or8k53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Or8k53
|
APN |
2 |
86,178,077 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02524:Or8k53
|
APN |
2 |
86,177,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0123:Or8k53
|
UTSW |
2 |
86,178,072 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0134:Or8k53
|
UTSW |
2 |
86,178,072 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0225:Or8k53
|
UTSW |
2 |
86,178,072 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1981:Or8k53
|
UTSW |
2 |
86,177,486 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4181:Or8k53
|
UTSW |
2 |
86,177,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Or8k53
|
UTSW |
2 |
86,177,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5013:Or8k53
|
UTSW |
2 |
86,177,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5077:Or8k53
|
UTSW |
2 |
86,177,683 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6312:Or8k53
|
UTSW |
2 |
86,177,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6345:Or8k53
|
UTSW |
2 |
86,177,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6626:Or8k53
|
UTSW |
2 |
86,177,364 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6680:Or8k53
|
UTSW |
2 |
86,177,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6691:Or8k53
|
UTSW |
2 |
86,177,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Or8k53
|
UTSW |
2 |
86,177,150 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7622:Or8k53
|
UTSW |
2 |
86,178,006 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8114:Or8k53
|
UTSW |
2 |
86,177,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8138:Or8k53
|
UTSW |
2 |
86,177,930 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8242:Or8k53
|
UTSW |
2 |
86,177,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8260:Or8k53
|
UTSW |
2 |
86,177,276 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8360:Or8k53
|
UTSW |
2 |
86,177,668 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8433:Or8k53
|
UTSW |
2 |
86,177,144 (GRCm39) |
missense |
unknown |
|
|
R8927:Or8k53
|
UTSW |
2 |
86,178,090 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8928:Or8k53
|
UTSW |
2 |
86,178,090 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9150:Or8k53
|
UTSW |
2 |
86,177,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9291:Or8k53
|
UTSW |
2 |
86,177,768 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9487:Or8k53
|
UTSW |
2 |
86,177,846 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9712:Or8k53
|
UTSW |
2 |
86,177,583 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1176:Or8k53
|
UTSW |
2 |
86,177,227 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACGGCAGACTGTCACAGTAG -3'
(R):5'- AGACTCTAGACTTCAGACACCTATG -3'
Sequencing Primer
(F):5'- CTGTCACAGTAGAAATGCCTGATG -3'
(R):5'- AGACTTCAGACACCTATGTACTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation