Incidental Mutation 'R3943:Or7g27'
| ID |
307544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or7g27
|
| Ensembl Gene |
ENSMUSG00000061614 |
| Gene Name |
olfactory receptor family 7 subfamily G member 27 |
| Synonyms |
MOR150-1P, GA_x6K02T2PVTD-13076685-13077623, MOR150-2, Olfr1522-ps1, MOR150-1, Olfr845, MOR150-1P |
| MMRRC Submission |
040924-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R3943 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
19249755-19250696 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19250371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 205
(M205K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071259]
[ENSMUST00000213344]
[ENSMUST00000215572]
|
| AlphaFold |
Q7TRG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071259
AA Change: M205K
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000071239
Gene: ENSMUSG00000061614
AA Change: M205K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.1e-56 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.1e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212246
AA Change: M205K
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213344
AA Change: M205K
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215572
AA Change: M205K
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
98% (49/50) |
| 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 |
|---|
| Adnp |
A |
G |
2: 168,026,980 (GRCm39) |
I105T |
possibly damaging |
Het |
| Atf3 |
A |
G |
1: 190,903,713 (GRCm39) |
I171T |
possibly damaging |
Het |
| Atp6v0a1 |
A |
G |
11: 100,946,343 (GRCm39) |
I773V |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,160,350 (GRCm39) |
L603* |
probably null |
Het |
| Cad |
T |
A |
5: 31,229,729 (GRCm39) |
|
probably null |
Het |
| Camkv |
T |
A |
9: 107,825,182 (GRCm39) |
D366E |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,913,039 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,880,668 (GRCm39) |
S932P |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,505,060 (GRCm39) |
|
probably benign |
Het |
| Fbp2 |
A |
G |
13: 62,989,607 (GRCm39) |
F233S |
possibly damaging |
Het |
| Gnptab |
G |
T |
10: 88,269,756 (GRCm39) |
V820L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gpr158 |
C |
A |
2: 21,373,370 (GRCm39) |
R102S |
possibly damaging |
Het |
| Gramd1b |
A |
T |
9: 40,442,340 (GRCm39) |
M1K |
probably null |
Het |
| H2-T23 |
A |
G |
17: 36,341,535 (GRCm39) |
V312A |
probably benign |
Het |
| Hltf |
A |
T |
3: 20,146,908 (GRCm39) |
I494F |
probably damaging |
Het |
| Il16 |
G |
A |
7: 83,301,223 (GRCm39) |
L300F |
probably damaging |
Het |
| Insyn1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
9: 58,406,715 (GRCm39) |
|
probably benign |
Het |
| Kcnq1 |
T |
C |
7: 142,979,825 (GRCm39) |
L657P |
probably damaging |
Het |
| Krt4 |
G |
A |
15: 101,829,685 (GRCm39) |
T281M |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,140,127 (GRCm39) |
F196S |
possibly damaging |
Het |
| Naip6 |
T |
C |
13: 100,431,247 (GRCm39) |
T1197A |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,523,365 (GRCm39) |
N204K |
probably damaging |
Het |
| Rassf6 |
G |
T |
5: 90,752,185 (GRCm39) |
Q258K |
possibly damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,583,655 (GRCm39) |
L380P |
probably damaging |
Het |
| Ribc2 |
A |
G |
15: 85,019,451 (GRCm39) |
M78V |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,799,950 (GRCm39) |
H73L |
probably damaging |
Het |
| Smg6 |
G |
A |
11: 74,820,367 (GRCm39) |
G213R |
probably damaging |
Het |
| Sspn |
T |
A |
6: 145,880,083 (GRCm39) |
W62R |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,710 (GRCm39) |
S1656G |
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,084,807 (GRCm39) |
|
probably null |
Het |
| Tab1 |
T |
C |
15: 80,037,941 (GRCm39) |
L258P |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,100,151 (GRCm39) |
I271F |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,673,138 (GRCm39) |
N538K |
possibly damaging |
Het |
| Usp28 |
T |
A |
9: 48,911,666 (GRCm39) |
L25I |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,363,930 (GRCm39) |
I662N |
probably damaging |
Het |
| Vmn2r42 |
A |
T |
7: 8,197,779 (GRCm39) |
F280Y |
possibly damaging |
Het |
| Vps8 |
A |
T |
16: 21,288,873 (GRCm39) |
N411Y |
probably damaging |
Het |
| Vwa2 |
T |
G |
19: 56,897,747 (GRCm39) |
L684R |
probably damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,396 (GRCm39) |
Q377R |
probably benign |
Het |
| Zfp947 |
C |
A |
17: 22,364,801 (GRCm39) |
G291V |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,927,656 (GRCm39) |
T366A |
probably benign |
Het |
|
| Other mutations in Or7g27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01546:Or7g27
|
APN |
9 |
19,250,068 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL01637:Or7g27
|
APN |
9 |
19,250,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01767:Or7g27
|
APN |
9 |
19,250,598 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01945:Or7g27
|
APN |
9 |
19,250,628 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02202:Or7g27
|
APN |
9 |
19,250,545 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02877:Or7g27
|
APN |
9 |
19,250,497 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0466:Or7g27
|
UTSW |
9 |
19,250,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Or7g27
|
UTSW |
9 |
19,249,948 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1650:Or7g27
|
UTSW |
9 |
19,249,943 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1766:Or7g27
|
UTSW |
9 |
19,250,154 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2060:Or7g27
|
UTSW |
9 |
19,250,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2082:Or7g27
|
UTSW |
9 |
19,250,574 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2257:Or7g27
|
UTSW |
9 |
19,249,789 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2892:Or7g27
|
UTSW |
9 |
19,250,034 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3156:Or7g27
|
UTSW |
9 |
19,250,720 (GRCm39) |
splice site |
probably null |
|
|
R4116:Or7g27
|
UTSW |
9 |
19,249,940 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4518:Or7g27
|
UTSW |
9 |
19,250,556 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4814:Or7g27
|
UTSW |
9 |
19,250,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5339:Or7g27
|
UTSW |
9 |
19,250,455 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6647:Or7g27
|
UTSW |
9 |
19,249,925 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7493:Or7g27
|
UTSW |
9 |
19,250,109 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7522:Or7g27
|
UTSW |
9 |
19,250,294 (GRCm39) |
nonsense |
probably null |
|
|
R7584:Or7g27
|
UTSW |
9 |
19,250,569 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9127:Or7g27
|
UTSW |
9 |
19,250,026 (GRCm39) |
missense |
probably benign |
|
|
R9463:Or7g27
|
UTSW |
9 |
19,250,320 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCCACCCTCTGAGGTAC -3'
(R):5'- GAGCTAATGTACACTCCTAAGCC -3'
Sequencing Primer
(F):5'- CTCTGAGGTACACAGTCATCATG -3'
(R):5'- AATGTACACTCCTAAGCCTGTCC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation