Incidental Mutation 'R4275:Or5g27'
ID |
324743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or5g27
|
Ensembl Gene |
ENSMUSG00000111179 |
Gene Name |
olfactory receptor family 5 subfamily G member 27 |
Synonyms |
MOR175-4, GA_x6K02T2Q125-47058060-47059004, Olfr996 |
MMRRC Submission |
041646-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R4275 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
85409559-85410626 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85410207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 208
(V208A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076330
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077075]
|
AlphaFold |
Q7TRA0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077075
AA Change: V208A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000076330 Gene: ENSMUSG00000111179 AA Change: V208A
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
308 |
2.2e-52 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
2.7e-16 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
98% (43/44) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna1e |
T |
C |
1: 154,369,071 (GRCm39) |
Y322C |
probably damaging |
Het |
Camsap2 |
A |
G |
1: 136,198,614 (GRCm39) |
V1462A |
probably benign |
Het |
D3Ertd751e |
C |
A |
3: 41,710,589 (GRCm39) |
|
probably benign |
Het |
Dhcr7 |
C |
T |
7: 143,396,964 (GRCm39) |
A152V |
probably damaging |
Het |
Enpep |
A |
T |
3: 129,125,927 (GRCm39) |
N68K |
probably benign |
Het |
Fam131b |
G |
A |
6: 42,298,241 (GRCm39) |
L43F |
probably damaging |
Het |
Fbxl5 |
T |
A |
5: 43,920,114 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Hycc2 |
T |
C |
1: 58,569,092 (GRCm39) |
T440A |
probably benign |
Het |
Igf2 |
T |
C |
7: 142,209,523 (GRCm39) |
M46V |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,905,842 (GRCm39) |
Y367N |
probably damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,343,198 (GRCm39) |
W647R |
probably damaging |
Het |
Mettl21c |
C |
T |
1: 44,049,716 (GRCm39) |
V110I |
probably damaging |
Het |
Mrgprh |
T |
C |
17: 13,096,114 (GRCm39) |
L118P |
probably damaging |
Het |
Myadm |
A |
G |
7: 3,345,618 (GRCm39) |
T127A |
probably benign |
Het |
Myh10 |
A |
T |
11: 68,642,766 (GRCm39) |
|
probably null |
Het |
Nadk |
T |
A |
4: 155,668,712 (GRCm39) |
Y128N |
probably benign |
Het |
Or8k39 |
T |
C |
2: 86,563,936 (GRCm39) |
T7A |
probably damaging |
Het |
Papolg |
A |
G |
11: 23,818,378 (GRCm39) |
I500T |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,128,608 (GRCm39) |
C4032S |
probably benign |
Het |
Rnase1 |
A |
T |
14: 51,383,327 (GRCm39) |
L9Q |
probably damaging |
Het |
Rspry1 |
G |
T |
8: 95,376,389 (GRCm39) |
V304L |
probably benign |
Het |
Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
Scpep1 |
T |
C |
11: 88,837,968 (GRCm39) |
|
probably null |
Het |
Serpina3m |
T |
A |
12: 104,355,375 (GRCm39) |
I14N |
probably damaging |
Het |
Smg6 |
A |
C |
11: 74,884,700 (GRCm39) |
|
probably benign |
Het |
Suz12 |
T |
C |
11: 79,920,879 (GRCm39) |
M593T |
probably damaging |
Het |
Tmem139 |
A |
G |
6: 42,241,039 (GRCm39) |
E208G |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,917,205 (GRCm39) |
Y2200C |
probably damaging |
Het |
Usp19 |
T |
G |
9: 108,375,893 (GRCm39) |
V911G |
probably damaging |
Het |
Vipr1 |
T |
C |
9: 121,493,684 (GRCm39) |
L245P |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,448,902 (GRCm39) |
I92F |
probably damaging |
Het |
Zbtb47 |
T |
A |
9: 121,595,605 (GRCm39) |
V576D |
probably damaging |
Het |
Zfp518b |
A |
G |
5: 38,829,071 (GRCm39) |
V978A |
probably damaging |
Het |
|
Other mutations in Or5g27 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01550:Or5g27
|
APN |
2 |
85,409,875 (GRCm39) |
nonsense |
probably null |
|
IGL01972:Or5g27
|
APN |
2 |
85,410,117 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02102:Or5g27
|
APN |
2 |
85,410,017 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03159:Or5g27
|
APN |
2 |
85,410,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R0539:Or5g27
|
UTSW |
2 |
85,410,119 (GRCm39) |
missense |
probably damaging |
0.99 |
R4561:Or5g27
|
UTSW |
2 |
85,409,964 (GRCm39) |
missense |
probably damaging |
0.99 |
R4953:Or5g27
|
UTSW |
2 |
85,410,069 (GRCm39) |
nonsense |
probably null |
|
R5794:Or5g27
|
UTSW |
2 |
85,409,685 (GRCm39) |
missense |
probably benign |
0.03 |
R6061:Or5g27
|
UTSW |
2 |
85,409,886 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6695:Or5g27
|
UTSW |
2 |
85,409,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R6981:Or5g27
|
UTSW |
2 |
85,409,825 (GRCm39) |
missense |
probably benign |
0.06 |
R7030:Or5g27
|
UTSW |
2 |
85,409,746 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7399:Or5g27
|
UTSW |
2 |
85,409,640 (GRCm39) |
missense |
probably benign |
0.00 |
R8914:Or5g27
|
UTSW |
2 |
85,410,056 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9594:Or5g27
|
UTSW |
2 |
85,409,882 (GRCm39) |
nonsense |
probably null |
|
R9686:Or5g27
|
UTSW |
2 |
85,410,340 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGCCATATGTAAGCCCTTGC -3'
(R):5'- TTCAAGGAGGAACTGACATTGG -3'
Sequencing Primer
(F):5'- GCCTTATGCCATTGCTCTTATAAG -3'
(R):5'- GACATTGGGTCTAACATAGATGAAG -3'
|
Posted On |
2015-06-24 |