Incidental Mutation 'R4181:Or7g30'
ID |
319743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or7g30
|
Ensembl Gene |
ENSMUSG00000052182 |
Gene Name |
olfactory receptor family 7 subfamily G member 30 |
Synonyms |
Olfr849, GA_x6K02T2PVTD-13176842-13177780, MOR151-1 |
MMRRC Submission |
041017-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.129)
|
Stock # |
R4181 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
19352211-19353149 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 19353031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 274
(A274V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063923]
[ENSMUST00000217273]
|
AlphaFold |
Q8VFF6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063923
AA Change: A274V
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000064123 Gene: ENSMUSG00000052182 AA Change: A274V
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
307 |
1.9e-51 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
7.6e-6 |
PFAM |
Pfam:7tm_1
|
41 |
290 |
2.6e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157237
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217273
AA Change: A274V
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.2055 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
92% (48/52) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
T |
C |
3: 116,540,279 (GRCm39) |
Y1445C |
probably damaging |
Het |
Arhgap12 |
T |
C |
18: 6,111,734 (GRCm39) |
D210G |
probably damaging |
Het |
Atp11b |
A |
G |
3: 35,854,714 (GRCm39) |
K284R |
probably benign |
Het |
Atp11b |
A |
G |
3: 35,843,707 (GRCm39) |
T185A |
probably damaging |
Het |
Bcas1 |
A |
G |
2: 170,260,547 (GRCm39) |
V44A |
probably benign |
Het |
Carmil3 |
G |
A |
14: 55,741,412 (GRCm39) |
D1066N |
probably benign |
Het |
Cfap251 |
T |
C |
5: 123,431,873 (GRCm39) |
I549T |
probably benign |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Clic4 |
A |
G |
4: 134,953,350 (GRCm39) |
V98A |
probably benign |
Het |
Cmpk2 |
T |
C |
12: 26,527,046 (GRCm39) |
V345A |
probably damaging |
Het |
Col6a3 |
A |
T |
1: 90,735,336 (GRCm39) |
I771N |
probably damaging |
Het |
Cyp2d34 |
A |
T |
15: 82,501,486 (GRCm39) |
|
probably null |
Het |
Cyp7a1 |
C |
T |
4: 6,271,205 (GRCm39) |
G317E |
probably benign |
Het |
Ddx1 |
A |
T |
12: 13,281,504 (GRCm39) |
L353* |
probably null |
Het |
Dnhd1 |
T |
A |
7: 105,343,161 (GRCm39) |
W1502R |
probably damaging |
Het |
Drc1 |
T |
C |
5: 30,513,057 (GRCm39) |
V377A |
probably benign |
Het |
Fyb1 |
A |
G |
15: 6,610,404 (GRCm39) |
N326D |
probably benign |
Het |
Gapdh |
C |
T |
6: 125,142,197 (GRCm39) |
|
probably benign |
Het |
Gm973 |
A |
G |
1: 59,590,399 (GRCm39) |
Y302C |
possibly damaging |
Het |
Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
Gtpbp3 |
C |
T |
8: 71,944,111 (GRCm39) |
T285I |
probably damaging |
Het |
Hnrnpul1 |
T |
C |
7: 25,426,237 (GRCm39) |
D538G |
probably damaging |
Het |
Kif26b |
G |
A |
1: 178,742,991 (GRCm39) |
S582N |
probably damaging |
Het |
Lgals4 |
T |
C |
7: 28,535,437 (GRCm39) |
V107A |
possibly damaging |
Het |
Lmbr1l |
A |
T |
15: 98,806,601 (GRCm39) |
L270Q |
possibly damaging |
Het |
Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
Lpcat3 |
C |
T |
6: 124,680,187 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
G |
A |
2: 40,501,446 (GRCm39) |
T219I |
probably damaging |
Het |
Man2a2 |
T |
A |
7: 80,001,487 (GRCm39) |
E1140V |
possibly damaging |
Het |
Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
Or8k53 |
A |
T |
2: 86,177,581 (GRCm39) |
H176Q |
probably damaging |
Het |
Pdss1 |
T |
C |
2: 22,805,517 (GRCm39) |
I265T |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,257,801 (GRCm39) |
|
probably null |
Het |
Rad50 |
T |
A |
11: 53,592,832 (GRCm39) |
N106I |
probably benign |
Het |
Rbbp6 |
A |
G |
7: 122,593,958 (GRCm39) |
Y568C |
probably damaging |
Het |
Rorc |
G |
A |
3: 94,294,500 (GRCm39) |
C33Y |
probably damaging |
Het |
Ssc4d |
T |
C |
5: 135,990,778 (GRCm39) |
E470G |
possibly damaging |
Het |
Tnxb |
T |
G |
17: 34,928,428 (GRCm39) |
V2614G |
possibly damaging |
Het |
Trip11 |
A |
T |
12: 101,860,027 (GRCm39) |
D282E |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,706,811 (GRCm39) |
|
probably benign |
Het |
Vangl1 |
A |
T |
3: 102,073,097 (GRCm39) |
|
probably benign |
Het |
Wiz |
T |
C |
17: 32,586,959 (GRCm39) |
E117G |
probably damaging |
Het |
Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
Het |
|
Other mutations in Or7g30 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01285:Or7g30
|
APN |
9 |
19,352,266 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01599:Or7g30
|
APN |
9 |
19,353,111 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01885:Or7g30
|
APN |
9 |
19,352,760 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02258:Or7g30
|
APN |
9 |
19,352,295 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02258:Or7g30
|
APN |
9 |
19,352,293 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02282:Or7g30
|
APN |
9 |
19,352,914 (GRCm39) |
missense |
probably benign |
0.42 |
R1293:Or7g30
|
UTSW |
9 |
19,352,728 (GRCm39) |
missense |
probably benign |
0.27 |
R1931:Or7g30
|
UTSW |
9 |
19,352,647 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2444:Or7g30
|
UTSW |
9 |
19,352,311 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4231:Or7g30
|
UTSW |
9 |
19,352,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R4233:Or7g30
|
UTSW |
9 |
19,352,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R4236:Or7g30
|
UTSW |
9 |
19,352,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R4302:Or7g30
|
UTSW |
9 |
19,352,295 (GRCm39) |
missense |
probably benign |
0.00 |
R4651:Or7g30
|
UTSW |
9 |
19,352,591 (GRCm39) |
nonsense |
probably null |
|
R5006:Or7g30
|
UTSW |
9 |
19,352,545 (GRCm39) |
missense |
probably benign |
0.30 |
R5088:Or7g30
|
UTSW |
9 |
19,353,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R5501:Or7g30
|
UTSW |
9 |
19,352,290 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6775:Or7g30
|
UTSW |
9 |
19,352,718 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7038:Or7g30
|
UTSW |
9 |
19,352,888 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8010:Or7g30
|
UTSW |
9 |
19,352,988 (GRCm39) |
missense |
probably benign |
0.02 |
R8850:Or7g30
|
UTSW |
9 |
19,352,817 (GRCm39) |
missense |
probably damaging |
0.96 |
R9154:Or7g30
|
UTSW |
9 |
19,352,531 (GRCm39) |
missense |
probably benign |
0.39 |
R9523:Or7g30
|
UTSW |
9 |
19,352,580 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTAGTTTACACAGTGTCTGTTC -3'
(R):5'- GCTAAGCATGTTGATTCACAAAGTC -3'
Sequencing Primer
(F):5'- TCCTGTCTTTGGGATTATTTTGTC -3'
(R):5'- GCATGTTGATTCACAAAGTCTTATG -3'
|
Posted On |
2015-06-10 |