Incidental Mutation 'R4244:Or5d39'
| ID |
320332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5d39
|
| Ensembl Gene |
ENSMUSG00000100899 |
| Gene Name |
olfactory receptor family 5 subfamily D member 39 |
| Synonyms |
Olfr1167, MOR174-16, GA_x6K02T2Q125-49641892-49640942 |
| MMRRC Submission |
041060-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4244 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87979328-87980427 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87979632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 244
(T244A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099832]
[ENSMUST00000216951]
|
| AlphaFold |
Q7TR26 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099832
AA Change: T244A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000097420
Gene: ENSMUSG00000100899
AA Change: T244A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
310 |
1.3e-47 |
PFAM |
|
Pfam:7tm_1
|
43 |
292 |
3e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216951
AA Change: T244A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (47/48) |
| 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 |
|---|
| Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
| Ap1g1 |
G |
A |
8: 110,560,122 (GRCm39) |
S281N |
probably benign |
Het |
| Arfgef3 |
C |
A |
10: 18,506,168 (GRCm39) |
G878V |
probably damaging |
Het |
| Ccdc137 |
T |
C |
11: 120,352,844 (GRCm39) |
F196S |
probably damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,296,838 (GRCm39) |
Q214* |
probably null |
Het |
| Ccrl2 |
T |
C |
9: 110,884,422 (GRCm39) |
I359V |
probably benign |
Het |
| Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
| Cfap20dc |
T |
C |
14: 8,482,521 (GRCm38) |
T551A |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,714,361 (GRCm39) |
T1683K |
unknown |
Het |
| Copa |
A |
G |
1: 171,938,285 (GRCm39) |
I524V |
probably benign |
Het |
| Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
| Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,012,031 (GRCm39) |
F1348L |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 105,002,629 (GRCm39) |
K5664I |
probably damaging |
Het |
| Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9892 |
A |
T |
8: 52,649,435 (GRCm39) |
|
noncoding transcript |
Het |
| Grm4 |
A |
G |
17: 27,721,709 (GRCm39) |
I144T |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Krt28 |
G |
T |
11: 99,265,376 (GRCm39) |
S97Y |
probably damaging |
Het |
| Map3k6 |
T |
C |
4: 132,979,258 (GRCm39) |
Y1204H |
possibly damaging |
Het |
| Mfsd2b |
G |
T |
12: 4,924,356 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,605,157 (GRCm39) |
D972G |
probably damaging |
Het |
| Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
| Or2y3 |
C |
T |
17: 38,393,321 (GRCm39) |
V183I |
probably benign |
Het |
| Prex1 |
G |
A |
2: 166,412,256 (GRCm39) |
R392W |
probably damaging |
Het |
| Ptpn5 |
C |
T |
7: 46,741,296 (GRCm39) |
W38* |
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,572,345 (GRCm39) |
I209V |
probably benign |
Het |
| Sh3d21 |
C |
T |
4: 126,044,511 (GRCm39) |
|
probably benign |
Het |
| Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
| Slc5a5 |
A |
G |
8: 71,342,930 (GRCm39) |
V210A |
probably benign |
Het |
| Snx25 |
A |
G |
8: 46,558,291 (GRCm39) |
C239R |
probably damaging |
Het |
| Sp5 |
T |
C |
2: 70,307,382 (GRCm39) |
F356L |
probably damaging |
Het |
| Spaca9 |
T |
C |
2: 28,582,998 (GRCm39) |
I141V |
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,485,107 (GRCm39) |
L763H |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,059 (GRCm39) |
E271G |
probably benign |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
| Vwa5a |
T |
C |
9: 38,649,112 (GRCm39) |
|
probably benign |
Het |
| Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
| Zscan29 |
C |
T |
2: 120,995,275 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or5d39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Or5d39
|
APN |
2 |
87,979,604 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL01525:Or5d39
|
APN |
2 |
87,980,221 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02008:Or5d39
|
APN |
2 |
87,979,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02116:Or5d39
|
APN |
2 |
87,979,632 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02740:Or5d39
|
APN |
2 |
87,979,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03493:Or5d39
|
APN |
2 |
87,980,280 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4498001:Or5d39
|
UTSW |
2 |
87,980,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1951:Or5d39
|
UTSW |
2 |
87,979,641 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2060:Or5d39
|
UTSW |
2 |
87,979,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4167:Or5d39
|
UTSW |
2 |
87,980,189 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4168:Or5d39
|
UTSW |
2 |
87,980,189 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5363:Or5d39
|
UTSW |
2 |
87,980,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5778:Or5d39
|
UTSW |
2 |
87,979,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5939:Or5d39
|
UTSW |
2 |
87,979,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Or5d39
|
UTSW |
2 |
87,980,360 (GRCm39) |
start codon destroyed |
probably null |
0.37 |
|
R7036:Or5d39
|
UTSW |
2 |
87,979,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7104:Or5d39
|
UTSW |
2 |
87,979,716 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7340:Or5d39
|
UTSW |
2 |
87,979,620 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7481:Or5d39
|
UTSW |
2 |
87,980,105 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7615:Or5d39
|
UTSW |
2 |
87,979,862 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8684:Or5d39
|
UTSW |
2 |
87,979,872 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9030:Or5d39
|
UTSW |
2 |
87,979,718 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9189:Or5d39
|
UTSW |
2 |
87,979,908 (GRCm39) |
missense |
probably benign |
|
|
R9598:Or5d39
|
UTSW |
2 |
87,979,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9641:Or5d39
|
UTSW |
2 |
87,980,255 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9751:Or5d39
|
UTSW |
2 |
87,979,614 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0050:Or5d39
|
UTSW |
2 |
87,980,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTTGAGCTGATAAGTCTCCTGAC -3'
(R):5'- CACTTTGGCTGTGAATACTCTGC -3'
Sequencing Primer
(F):5'- GTCTCCTGACTGTGTCCTTCAC -3'
(R):5'- GGCTGTGAATACTCTGCTGTCATC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation