Incidental Mutation 'R2971:Or11g25'
| ID |
265691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or11g25
|
| Ensembl Gene |
ENSMUSG00000095765 |
| Gene Name |
olfactory receptor family 11 subfamily G member 25 |
| Synonyms |
MOR106-15, MOR106-10, Olfr741, GA_x6K02T2PMLR-6197851-6198786 |
| MMRRC Submission |
040525-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R2971 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
50710514-50723852 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50723065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 50
(I50N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071932]
[ENSMUST00000205518]
[ENSMUST00000213903]
|
| AlphaFold |
L7N1Y5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071932
AA Change: I50N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000071824
Gene: ENSMUSG00000095765
AA Change: I50N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
311 |
1.2e-55 |
PFAM |
|
Pfam:7tm_1
|
45 |
294 |
2.4e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205518
AA Change: I50N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213903
AA Change: I50N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.1925 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (35/35) |
| 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 |
|---|
| Acan |
A |
G |
7: 78,749,447 (GRCm39) |
D1406G |
possibly damaging |
Het |
| Aebp2 |
T |
C |
6: 140,579,624 (GRCm39) |
|
probably null |
Het |
| Ap5m1 |
T |
A |
14: 49,321,339 (GRCm39) |
Y49* |
probably null |
Het |
| Atp8b5 |
T |
C |
4: 43,361,953 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
A |
G |
12: 54,970,224 (GRCm39) |
S518P |
probably damaging |
Het |
| Ces1c |
T |
A |
8: 93,830,821 (GRCm39) |
D445V |
probably benign |
Het |
| Ctnnbl1 |
C |
T |
2: 157,713,106 (GRCm39) |
H464Y |
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,420,018 (GRCm39) |
K238E |
probably benign |
Het |
| Gdf10 |
G |
A |
14: 33,646,148 (GRCm39) |
R99H |
probably damaging |
Het |
| Gm4779 |
G |
A |
X: 100,836,568 (GRCm39) |
P116L |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,198,708 (GRCm39) |
S812P |
probably damaging |
Het |
| Ifit3b |
C |
T |
19: 34,589,417 (GRCm39) |
Q198* |
probably null |
Het |
| Irgm1 |
A |
T |
11: 48,757,417 (GRCm39) |
Y131* |
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,474,175 (GRCm39) |
N1630S |
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Nme6 |
A |
G |
9: 109,671,159 (GRCm39) |
|
probably benign |
Het |
| Or5al6 |
T |
C |
2: 85,976,908 (GRCm39) |
T57A |
probably damaging |
Het |
| Plch2 |
T |
G |
4: 155,075,224 (GRCm39) |
M797L |
probably benign |
Het |
| Plscr2 |
G |
T |
9: 92,172,724 (GRCm39) |
E128* |
probably null |
Het |
| Plxna2 |
T |
A |
1: 194,480,039 (GRCm39) |
D1403E |
probably damaging |
Het |
| Pou6f2 |
T |
C |
13: 18,556,552 (GRCm39) |
T25A |
unknown |
Het |
| Psmb11 |
T |
C |
14: 54,862,800 (GRCm39) |
V6A |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprd |
T |
G |
4: 76,025,561 (GRCm39) |
S546R |
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,676,411 (GRCm39) |
N120D |
probably benign |
Het |
| Skint1 |
C |
A |
4: 111,878,527 (GRCm39) |
P153H |
possibly damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Tmem201 |
A |
G |
4: 149,806,902 (GRCm39) |
|
probably benign |
Het |
| Ube2v1 |
T |
C |
2: 167,452,256 (GRCm39) |
N89D |
probably damaging |
Het |
| Zfp282 |
A |
T |
6: 47,874,866 (GRCm39) |
|
probably null |
Het |
| Zfp560 |
C |
A |
9: 20,260,240 (GRCm39) |
M207I |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,335,617 (GRCm39) |
Y461H |
probably damaging |
Het |
|
| Other mutations in Or11g25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01773:Or11g25
|
APN |
14 |
50,723,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01796:Or11g25
|
APN |
14 |
50,722,998 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01916:Or11g25
|
APN |
14 |
50,722,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02686:Or11g25
|
APN |
14 |
50,723,426 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02874:Or11g25
|
APN |
14 |
50,723,686 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02898:Or11g25
|
APN |
14 |
50,723,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Or11g25
|
UTSW |
14 |
50,723,536 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0085:Or11g25
|
UTSW |
14 |
50,723,791 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1777:Or11g25
|
UTSW |
14 |
50,723,757 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1850:Or11g25
|
UTSW |
14 |
50,723,055 (GRCm39) |
missense |
probably benign |
|
|
R2270:Or11g25
|
UTSW |
14 |
50,723,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2338:Or11g25
|
UTSW |
14 |
50,723,097 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4594:Or11g25
|
UTSW |
14 |
50,723,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5383:Or11g25
|
UTSW |
14 |
50,723,509 (GRCm39) |
nonsense |
probably null |
|
|
R5708:Or11g25
|
UTSW |
14 |
50,723,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Or11g25
|
UTSW |
14 |
50,723,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6038:Or11g25
|
UTSW |
14 |
50,723,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7116:Or11g25
|
UTSW |
14 |
50,723,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7702:Or11g25
|
UTSW |
14 |
50,723,751 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8169:Or11g25
|
UTSW |
14 |
50,723,692 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9040:Or11g25
|
UTSW |
14 |
50,722,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9139:Or11g25
|
UTSW |
14 |
50,723,707 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTGATGCTTTCACAGGTCACAG -3'
(R):5'- CAAATGCCATGACTGCCAGG -3'
Sequencing Primer
(F):5'- GCTTTCACAGGTCACAGACAGATG -3'
(R):5'- CTGCCAGGAAAAAGCATTCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation