Incidental Mutation 'R4508:Or5h17'
| ID |
331093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5h17
|
| Ensembl Gene |
ENSMUSG00000062105 |
| Gene Name |
olfactory receptor family 5 subfamily H member 17 |
| Synonyms |
MOR183-2, Olfr183, GA_x54KRFPKG5P-55229158-55230087 |
| MMRRC Submission |
041757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4508 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
58815720-58821804 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58820138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 30
(V30E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149279
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073320]
[ENSMUST00000206303]
[ENSMUST00000213465]
[ENSMUST00000214831]
[ENSMUST00000214916]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073320
AA Change: V30E
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080602
Gene: ENSMUSG00000062105
AA Change: V30E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
5.7e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
4.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206303
AA Change: V30E
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213465
AA Change: V30E
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214831
AA Change: V30E
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214916
AA Change: V30E
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
100% (50/50) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
G |
2: 150,746,275 (GRCm39) |
|
probably benign |
Het |
| Amer3 |
A |
G |
1: 34,627,380 (GRCm39) |
R540G |
probably benign |
Het |
| Ank |
C |
T |
15: 27,565,063 (GRCm39) |
R255W |
probably damaging |
Het |
| Ank3 |
A |
C |
10: 69,728,200 (GRCm39) |
I629L |
probably damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,672,387 (GRCm39) |
N194Y |
probably damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,095 (GRCm39) |
T253A |
possibly damaging |
Het |
| Ccdc40 |
C |
A |
11: 119,133,335 (GRCm39) |
D534E |
probably damaging |
Het |
| Chrna2 |
C |
A |
14: 66,383,902 (GRCm39) |
N106K |
probably damaging |
Het |
| Clec2f |
C |
A |
6: 128,997,474 (GRCm39) |
|
noncoding transcript |
Het |
| Cnnm2 |
G |
A |
19: 46,865,709 (GRCm39) |
D766N |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,906,943 (GRCm39) |
|
probably null |
Het |
| Ddc |
C |
T |
11: 11,769,393 (GRCm39) |
|
probably null |
Het |
| Doc2g |
G |
A |
19: 4,054,036 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,481 (GRCm39) |
T1334A |
unknown |
Het |
| Epdr1 |
T |
C |
13: 19,778,659 (GRCm39) |
I44V |
probably benign |
Het |
| Fbp2 |
A |
T |
13: 62,989,679 (GRCm39) |
I209N |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,323,764 (GRCm39) |
V163A |
probably benign |
Het |
| Get1 |
T |
A |
16: 95,946,899 (GRCm39) |
|
probably benign |
Het |
| Gldc |
G |
T |
19: 30,120,807 (GRCm39) |
Q375K |
probably damaging |
Het |
| Hc |
A |
C |
2: 34,903,077 (GRCm39) |
V1058G |
possibly damaging |
Het |
| Hydin |
T |
A |
8: 111,245,886 (GRCm39) |
S2200T |
possibly damaging |
Het |
| Kcnc1 |
C |
T |
7: 46,077,712 (GRCm39) |
P505S |
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,834,048 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
A |
G |
11: 100,333,002 (GRCm39) |
E49G |
possibly damaging |
Het |
| Lhx5 |
T |
C |
5: 120,573,499 (GRCm39) |
S161P |
probably damaging |
Het |
| Lilra6 |
G |
T |
7: 3,915,028 (GRCm39) |
Y455* |
probably null |
Het |
| Lzts1 |
C |
T |
8: 69,588,270 (GRCm39) |
R562H |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,226,356 (GRCm39) |
|
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,251,317 (GRCm39) |
Q74* |
probably null |
Het |
| Or4f56 |
A |
C |
2: 111,703,947 (GRCm39) |
D84E |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,633,385 (GRCm39) |
|
probably null |
Het |
| Ptpre |
T |
C |
7: 135,270,832 (GRCm39) |
L329P |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,744,456 (GRCm39) |
Q73R |
possibly damaging |
Het |
| Scly |
G |
A |
1: 91,236,047 (GRCm39) |
V100I |
possibly damaging |
Het |
| Sos2 |
A |
T |
12: 69,682,435 (GRCm39) |
L261* |
probably null |
Het |
| Sp1 |
A |
C |
15: 102,317,747 (GRCm39) |
Q422P |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,800,741 (GRCm39) |
F468Y |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,172 (GRCm39) |
Y2662C |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tmprss2 |
C |
A |
16: 97,371,627 (GRCm39) |
G281C |
probably damaging |
Het |
| Tmprss6 |
A |
T |
15: 78,343,978 (GRCm39) |
Y183N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,580,684 (GRCm39) |
L23403Q |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r90 |
T |
C |
7: 14,296,084 (GRCm39) |
N5D |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,709,819 (GRCm39) |
D1922G |
possibly damaging |
Het |
|
| Other mutations in Or5h17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02294:Or5h17
|
APN |
16 |
58,820,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02795:Or5h17
|
APN |
16 |
58,820,640 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02803:Or5h17
|
APN |
16 |
58,820,321 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02837:Or5h17
|
UTSW |
16 |
58,820,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Or5h17
|
UTSW |
16 |
58,820,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0372:Or5h17
|
UTSW |
16 |
58,820,450 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0652:Or5h17
|
UTSW |
16 |
58,820,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0890:Or5h17
|
UTSW |
16 |
58,820,150 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1279:Or5h17
|
UTSW |
16 |
58,820,501 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1429:Or5h17
|
UTSW |
16 |
58,820,501 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1473:Or5h17
|
UTSW |
16 |
58,820,275 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2115:Or5h17
|
UTSW |
16 |
58,820,783 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2117:Or5h17
|
UTSW |
16 |
58,820,783 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4709:Or5h17
|
UTSW |
16 |
58,820,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4929:Or5h17
|
UTSW |
16 |
58,820,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5478:Or5h17
|
UTSW |
16 |
58,820,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5522:Or5h17
|
UTSW |
16 |
58,820,268 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5571:Or5h17
|
UTSW |
16 |
58,820,569 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5685:Or5h17
|
UTSW |
16 |
58,820,709 (GRCm39) |
missense |
probably benign |
|
|
R6064:Or5h17
|
UTSW |
16 |
58,820,186 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7443:Or5h17
|
UTSW |
16 |
58,820,353 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7870:Or5h17
|
UTSW |
16 |
58,820,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8085:Or5h17
|
UTSW |
16 |
58,820,432 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8459:Or5h17
|
UTSW |
16 |
58,820,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Or5h17
|
UTSW |
16 |
58,820,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9268:Or5h17
|
UTSW |
16 |
58,820,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9569:Or5h17
|
UTSW |
16 |
58,820,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTTCATCACTAGAAGCACCTTC -3'
(R):5'- AAATTGTGTCTTGCATTCAGCCAC -3'
Sequencing Primer
(F):5'- GCACCTTCAATATTCACGTAACTC -3'
(R):5'- TGTCTTGCATTCAGCCACAGAAATC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation