Incidental Mutation 'R2404:Or5k17'
| ID |
248887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5k17
|
| Ensembl Gene |
ENSMUSG00000090951 |
| Gene Name |
olfactory receptor family 5 subfamily K member 17 |
| Synonyms |
Olfr181, MOR184-4, GA_x54KRFPKG5P-55145984-55145034 |
| MMRRC Submission |
040370-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R2404 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
58745920-58749007 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58745998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 312
(S312L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075361]
[ENSMUST00000205668]
[ENSMUST00000205742]
[ENSMUST00000205986]
[ENSMUST00000206168]
|
| AlphaFold |
Q8VGQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075361
AA Change: S312L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000074825
Gene: ENSMUSG00000090951
AA Change: S312L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
305 |
5.7e-52 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
308 |
6.1e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
308 |
3.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205668
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205742
AA Change: S312L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205986
AA Change: S312L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214942
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.2%
|
| Validation Efficiency |
98% (52/53) |
| 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 |
All alleles(1) : Gene trapped(1)
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,923 (GRCm39) |
T98A |
possibly damaging |
Het |
| Aifm2 |
A |
G |
10: 61,563,974 (GRCm39) |
I161V |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,336,336 (GRCm39) |
M625T |
possibly damaging |
Het |
| Atp9a |
T |
A |
2: 168,517,283 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
T |
C |
10: 122,285,115 (GRCm39) |
F136L |
possibly damaging |
Het |
| Bcas3 |
T |
C |
11: 85,245,715 (GRCm39) |
|
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,618,463 (GRCm39) |
H867Q |
probably benign |
Het |
| Cdh12 |
C |
T |
15: 21,537,720 (GRCm39) |
T407I |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,451,791 (GRCm39) |
T701M |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,561,733 (GRCm39) |
V927A |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,328,047 (GRCm39) |
F3353L |
probably damaging |
Het |
| Ect2 |
G |
A |
3: 27,185,999 (GRCm39) |
P495S |
probably benign |
Het |
| Egfl7 |
G |
A |
2: 26,479,162 (GRCm39) |
E25K |
possibly damaging |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Hbs1l |
A |
T |
10: 21,171,946 (GRCm39) |
|
probably benign |
Het |
| Insrr |
C |
T |
3: 87,709,974 (GRCm39) |
T309I |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif12 |
A |
C |
4: 63,088,790 (GRCm39) |
L170R |
probably damaging |
Het |
| Krt90 |
A |
G |
15: 101,463,105 (GRCm39) |
|
probably null |
Het |
| Mcu |
A |
G |
10: 59,303,526 (GRCm39) |
S104P |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,936,789 (GRCm39) |
P374S |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,287,128 (GRCm39) |
|
probably benign |
Het |
| Or12e9 |
A |
G |
2: 87,202,568 (GRCm39) |
I231V |
probably benign |
Het |
| Or2t47 |
A |
T |
11: 58,442,546 (GRCm39) |
I173N |
probably damaging |
Het |
| Or2w1b |
T |
C |
13: 21,300,012 (GRCm39) |
L50P |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,346,899 (GRCm39) |
S158G |
probably benign |
Het |
| Phlpp1 |
C |
T |
1: 106,100,569 (GRCm39) |
T279M |
probably benign |
Het |
| Pkhd1l1 |
T |
G |
15: 44,414,216 (GRCm39) |
W2828G |
probably damaging |
Het |
| Pnma8a |
A |
T |
7: 16,694,316 (GRCm39) |
N57I |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,547,749 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
C |
10: 107,522,460 (GRCm39) |
Y531C |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,080,750 (GRCm39) |
T1605A |
probably benign |
Het |
| Satb2 |
T |
C |
1: 56,987,267 (GRCm39) |
Y106C |
probably damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc19a3 |
T |
A |
1: 83,000,756 (GRCm39) |
H87L |
probably benign |
Het |
| Slc4a7 |
G |
T |
14: 14,733,733 (GRCm38) |
V54L |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,216 (GRCm39) |
N1137S |
unknown |
Het |
| Spice1 |
T |
C |
16: 44,186,989 (GRCm39) |
I162T |
probably benign |
Het |
| Spmip1 |
G |
A |
6: 29,473,390 (GRCm39) |
R173Q |
probably benign |
Het |
| Sqor |
A |
T |
2: 122,649,943 (GRCm39) |
T396S |
probably benign |
Het |
| Tshz3 |
A |
T |
7: 36,469,805 (GRCm39) |
Q598L |
probably damaging |
Het |
| Ttc13 |
C |
T |
8: 125,405,736 (GRCm39) |
|
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,933,851 (GRCm39) |
T187A |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,948,558 (GRCm39) |
|
probably null |
Het |
| Zc3h12a |
T |
C |
4: 125,013,316 (GRCm39) |
Y516C |
probably damaging |
Het |
| Zfp616 |
A |
C |
11: 73,975,682 (GRCm39) |
K650N |
probably damaging |
Het |
|
| Other mutations in Or5k17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01845:Or5k17
|
APN |
16 |
58,746,929 (GRCm39) |
missense |
probably benign |
|
|
IGL02477:Or5k17
|
APN |
16 |
58,746,126 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02545:Or5k17
|
APN |
16 |
58,746,833 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02690:Or5k17
|
APN |
16 |
58,746,214 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02718:Or5k17
|
APN |
16 |
58,746,459 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02945:Or5k17
|
APN |
16 |
58,746,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03349:Or5k17
|
APN |
16 |
58,746,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
B5639:Or5k17
|
UTSW |
16 |
58,746,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0550:Or5k17
|
UTSW |
16 |
58,746,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0659:Or5k17
|
UTSW |
16 |
58,746,772 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1433:Or5k17
|
UTSW |
16 |
58,746,049 (GRCm39) |
missense |
probably benign |
|
|
R1957:Or5k17
|
UTSW |
16 |
58,746,530 (GRCm39) |
missense |
probably benign |
|
|
R2155:Or5k17
|
UTSW |
16 |
58,746,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2568:Or5k17
|
UTSW |
16 |
58,746,286 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4022:Or5k17
|
UTSW |
16 |
58,746,483 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4592:Or5k17
|
UTSW |
16 |
58,746,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4673:Or5k17
|
UTSW |
16 |
58,746,053 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4880:Or5k17
|
UTSW |
16 |
58,746,463 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5109:Or5k17
|
UTSW |
16 |
58,746,422 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5231:Or5k17
|
UTSW |
16 |
58,746,077 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5291:Or5k17
|
UTSW |
16 |
58,746,764 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5477:Or5k17
|
UTSW |
16 |
58,746,393 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5524:Or5k17
|
UTSW |
16 |
58,746,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5809:Or5k17
|
UTSW |
16 |
58,746,860 (GRCm39) |
missense |
probably benign |
|
|
R5830:Or5k17
|
UTSW |
16 |
58,746,457 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6119:Or5k17
|
UTSW |
16 |
58,746,895 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6217:Or5k17
|
UTSW |
16 |
58,746,877 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6861:Or5k17
|
UTSW |
16 |
58,746,867 (GRCm39) |
missense |
probably benign |
|
|
R6939:Or5k17
|
UTSW |
16 |
58,746,648 (GRCm39) |
nonsense |
probably null |
|
|
R7376:Or5k17
|
UTSW |
16 |
58,746,121 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7650:Or5k17
|
UTSW |
16 |
58,746,416 (GRCm39) |
nonsense |
probably null |
|
|
R8153:Or5k17
|
UTSW |
16 |
58,746,149 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8947:Or5k17
|
UTSW |
16 |
58,746,433 (GRCm39) |
missense |
probably benign |
|
|
R9205:Or5k17
|
UTSW |
16 |
58,746,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9205:Or5k17
|
UTSW |
16 |
58,746,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9318:Or5k17
|
UTSW |
16 |
58,746,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9654:Or5k17
|
UTSW |
16 |
58,746,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9678:Or5k17
|
UTSW |
16 |
58,746,640 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAAACAGTTGATGCCTGGC -3'
(R):5'- GTCTTCTCATGTATATTGGACCATC -3'
Sequencing Primer
(F):5'- AACAGTTGATGCCTGGCAATTTTAGG -3'
(R):5'- CCCTTTTATTTACAGCCTGAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation