Incidental Mutation 'R1705:Or11g2'
| ID |
190035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or11g2
|
| Ensembl Gene |
ENSMUSG00000053815 |
| Gene Name |
olfactory receptor family 11 subfamily G member 2 |
| Synonyms |
MOR106-13P, GA_x6K02T2PMLR-6326342-6327313, Olfr744 |
| MMRRC Submission |
039738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R1705 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
50855681-50856652 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 50856579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 300
(H300L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148954
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066457]
[ENSMUST00000213668]
[ENSMUST00000216690]
|
| AlphaFold |
Q7TRM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066457
AA Change: H300L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000066496
Gene: ENSMUSG00000053815
AA Change: H300L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
312 |
2.9e-48 |
PFAM |
|
Pfam:7tm_1
|
45 |
294 |
1.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213668
AA Change: H300L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216690
AA Change: H300L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| Validation Efficiency |
90% (43/48) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Apaf1 |
A |
G |
10: 90,903,133 (GRCm39) |
|
probably benign |
Het |
| C1ql2 |
A |
G |
1: 120,270,271 (GRCm39) |
T278A |
probably damaging |
Het |
| Card14 |
A |
G |
11: 119,229,232 (GRCm39) |
H714R |
possibly damaging |
Het |
| Catsperd |
T |
C |
17: 56,940,521 (GRCm39) |
F69S |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,805,706 (GRCm39) |
E105G |
probably damaging |
Het |
| Coil |
A |
G |
11: 88,864,962 (GRCm39) |
Y63C |
probably damaging |
Het |
| Cox14 |
A |
G |
15: 99,625,559 (GRCm39) |
|
probably null |
Het |
| Defa24 |
T |
C |
8: 22,224,617 (GRCm39) |
I22T |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,045,059 (GRCm39) |
Y2116H |
possibly damaging |
Het |
| Faf1 |
C |
T |
4: 109,534,199 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,436,167 (GRCm39) |
S1026G |
probably benign |
Het |
| Hgf |
A |
T |
5: 16,820,800 (GRCm39) |
H649L |
probably benign |
Het |
| Hmces |
T |
C |
6: 87,910,283 (GRCm39) |
V231A |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,632,598 (GRCm39) |
V963A |
probably benign |
Het |
| Ltbp1 |
T |
C |
17: 75,692,196 (GRCm39) |
|
probably null |
Het |
| Meox2 |
G |
A |
12: 37,217,493 (GRCm39) |
|
probably benign |
Het |
| Mis18bp1 |
A |
C |
12: 65,196,113 (GRCm39) |
S550R |
probably benign |
Het |
| Nap1l4 |
A |
T |
7: 143,095,497 (GRCm39) |
M1K |
probably null |
Het |
| Nav1 |
G |
T |
1: 135,512,337 (GRCm39) |
T241N |
probably damaging |
Het |
| Nbeal2 |
A |
G |
9: 110,454,264 (GRCm39) |
W2694R |
probably damaging |
Het |
| Or2b6 |
C |
A |
13: 21,823,331 (GRCm39) |
D121Y |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,855 (GRCm39) |
I194F |
possibly damaging |
Het |
| Phaf1 |
T |
C |
8: 105,965,104 (GRCm39) |
|
probably benign |
Het |
| Pld1 |
G |
A |
3: 28,125,426 (GRCm39) |
|
probably null |
Het |
| Podn |
T |
C |
4: 107,875,055 (GRCm39) |
R164G |
probably benign |
Het |
| Qrfprl |
A |
T |
6: 65,433,290 (GRCm39) |
H370L |
probably benign |
Het |
| R3hdm1 |
T |
A |
1: 128,162,821 (GRCm39) |
L966Q |
probably damaging |
Het |
| Rasef |
A |
T |
4: 73,662,301 (GRCm39) |
Y369* |
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,777,989 (GRCm39) |
V2176E |
probably damaging |
Het |
| Sec14l2 |
A |
G |
11: 4,053,980 (GRCm39) |
L229P |
possibly damaging |
Het |
| Sec23a |
T |
C |
12: 59,048,652 (GRCm39) |
S157G |
possibly damaging |
Het |
| Slit2 |
T |
A |
5: 48,346,814 (GRCm39) |
W219R |
probably damaging |
Het |
| Smarcad1 |
G |
A |
6: 65,033,400 (GRCm39) |
E128K |
probably damaging |
Het |
| Stk31 |
A |
T |
6: 49,400,318 (GRCm39) |
N381I |
possibly damaging |
Het |
| Svop |
A |
G |
5: 114,180,356 (GRCm39) |
Y264H |
probably damaging |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,607,066 (GRCm39) |
I3987N |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,643,738 (GRCm39) |
S4367T |
probably benign |
Het |
| Vdr |
A |
T |
15: 97,765,052 (GRCm39) |
V229D |
probably damaging |
Het |
| Ywhaz |
G |
T |
15: 36,790,959 (GRCm39) |
T88K |
possibly damaging |
Het |
| Zc3h10 |
A |
T |
10: 128,380,672 (GRCm39) |
C228* |
probably null |
Het |
|
| Other mutations in Or11g2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01373:Or11g2
|
APN |
14 |
50,856,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02136:Or11g2
|
APN |
14 |
50,855,708 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02165:Or11g2
|
APN |
14 |
50,856,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Or11g2
|
APN |
14 |
50,856,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02556:Or11g2
|
APN |
14 |
50,856,185 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02710:Or11g2
|
APN |
14 |
50,856,255 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0127:Or11g2
|
UTSW |
14 |
50,855,789 (GRCm39) |
missense |
probably benign |
|
|
R0389:Or11g2
|
UTSW |
14 |
50,856,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0603:Or11g2
|
UTSW |
14 |
50,855,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0927:Or11g2
|
UTSW |
14 |
50,856,044 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1477:Or11g2
|
UTSW |
14 |
50,856,170 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1800:Or11g2
|
UTSW |
14 |
50,856,143 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1898:Or11g2
|
UTSW |
14 |
50,856,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2244:Or11g2
|
UTSW |
14 |
50,856,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Or11g2
|
UTSW |
14 |
50,856,026 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4732:Or11g2
|
UTSW |
14 |
50,856,026 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4733:Or11g2
|
UTSW |
14 |
50,856,026 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4801:Or11g2
|
UTSW |
14 |
50,856,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4802:Or11g2
|
UTSW |
14 |
50,856,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5068:Or11g2
|
UTSW |
14 |
50,856,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Or11g2
|
UTSW |
14 |
50,856,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Or11g2
|
UTSW |
14 |
50,856,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Or11g2
|
UTSW |
14 |
50,855,931 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5195:Or11g2
|
UTSW |
14 |
50,856,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Or11g2
|
UTSW |
14 |
50,856,158 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8246:Or11g2
|
UTSW |
14 |
50,855,841 (GRCm39) |
missense |
probably benign |
|
|
R8275:Or11g2
|
UTSW |
14 |
50,855,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9292:Or11g2
|
UTSW |
14 |
50,856,513 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACCACTTCCTGTGTGACCCAG -3'
(R):5'- AAGCCCGCCTTTATCTGAAGCC -3'
Sequencing Primer
(F):5'- AAATCTCCCCTAATTGAGCTGG -3'
(R):5'- GCCTTTATCTGAAGCCTGAGAAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation