Incidental Mutation 'R2243:Or2w3b'
| ID |
240736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2w3b
|
| Ensembl Gene |
ENSMUSG00000060030 |
| Gene Name |
olfactory receptor family 2 subfamily W member 3B |
| Synonyms |
Olfr317, GA_x6K02T2NKPP-680866-681849, MOR256-47 |
| MMRRC Submission |
040243-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R2243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
58622922-58624049 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58623271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 240
(T240M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075607]
[ENSMUST00000215513]
[ENSMUST00000216196]
|
| AlphaFold |
Q5NCD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075607
AA Change: T240M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075034
Gene: ENSMUSG00000060030
AA Change: T240M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.4e-50 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
5.8e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215513
AA Change: T240M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216196
AA Change: T240M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
G |
A |
4: 144,503,991 (GRCm39) |
R387C |
probably benign |
Het |
| Agbl1 |
A |
T |
7: 76,068,470 (GRCm39) |
E93D |
possibly damaging |
Het |
| Akap10 |
C |
A |
11: 61,806,327 (GRCm39) |
V134F |
possibly damaging |
Het |
| Bnc1 |
T |
C |
7: 81,623,821 (GRCm39) |
I469V |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,978,888 (GRCm39) |
I809L |
possibly damaging |
Het |
| Dicer1 |
T |
A |
12: 104,696,447 (GRCm39) |
E118V |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,648,292 (GRCm39) |
F274S |
probably benign |
Het |
| Dnaaf2 |
T |
G |
12: 69,243,418 (GRCm39) |
T548P |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
A |
G |
7: 100,883,092 (GRCm39) |
N240S |
probably benign |
Het |
| Foxb1 |
T |
C |
9: 69,667,146 (GRCm39) |
Y128C |
probably damaging |
Het |
| Fxr2 |
A |
T |
11: 69,532,896 (GRCm39) |
K158M |
possibly damaging |
Het |
| Golga4 |
C |
A |
9: 118,385,972 (GRCm39) |
D1031E |
probably benign |
Het |
| Hbb-bs |
T |
C |
7: 103,477,018 (GRCm39) |
D22G |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,001 (GRCm39) |
M119K |
probably benign |
Het |
| Kif18a |
C |
A |
2: 109,128,452 (GRCm39) |
H369Q |
probably damaging |
Het |
| Klhdc10 |
A |
G |
6: 30,449,558 (GRCm39) |
T207A |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,161 (GRCm39) |
C540R |
possibly damaging |
Het |
| Lilrb4b |
A |
T |
10: 51,357,704 (GRCm39) |
N133Y |
possibly damaging |
Het |
| Lrrc31 |
T |
A |
3: 30,739,179 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,889,767 (GRCm39) |
R2009H |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,338,597 (GRCm39) |
V99I |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 81,965,479 (GRCm39) |
S549P |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,323 (GRCm39) |
F2610S |
probably damaging |
Het |
| S100a14 |
A |
G |
3: 90,435,114 (GRCm39) |
T42A |
possibly damaging |
Het |
| Serpina6 |
T |
A |
12: 103,613,187 (GRCm39) |
Y371F |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,778,782 (GRCm39) |
|
probably benign |
Het |
| Taldo1 |
C |
A |
7: 140,972,217 (GRCm39) |
T28K |
probably damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,785,097 (GRCm39) |
Y184C |
probably damaging |
Het |
| Tep1 |
G |
C |
14: 51,091,667 (GRCm39) |
R625G |
probably benign |
Het |
| Timm44 |
A |
T |
8: 4,317,871 (GRCm39) |
I179N |
possibly damaging |
Het |
| Uimc1 |
A |
T |
13: 55,198,552 (GRCm39) |
|
probably null |
Het |
| Vmn1r68 |
A |
T |
7: 10,262,089 (GRCm39) |
V3E |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 29,991,139 (GRCm39) |
F683L |
probably damaging |
Het |
|
| Other mutations in Or2w3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02692:Or2w3b
|
APN |
11 |
58,623,343 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03330:Or2w3b
|
APN |
11 |
58,623,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Or2w3b
|
UTSW |
11 |
58,623,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1109:Or2w3b
|
UTSW |
11 |
58,623,742 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2012:Or2w3b
|
UTSW |
11 |
58,623,214 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R2253:Or2w3b
|
UTSW |
11 |
58,623,821 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5400:Or2w3b
|
UTSW |
11 |
58,623,146 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6551:Or2w3b
|
UTSW |
11 |
58,623,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6944:Or2w3b
|
UTSW |
11 |
58,623,068 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7144:Or2w3b
|
UTSW |
11 |
58,623,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7636:Or2w3b
|
UTSW |
11 |
58,623,273 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7985:Or2w3b
|
UTSW |
11 |
58,623,532 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8201:Or2w3b
|
UTSW |
11 |
58,623,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8374:Or2w3b
|
UTSW |
11 |
58,623,724 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8692:Or2w3b
|
UTSW |
11 |
58,623,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9006:Or2w3b
|
UTSW |
11 |
58,623,188 (GRCm39) |
nonsense |
probably null |
|
|
Z1186:Or2w3b
|
UTSW |
11 |
58,624,048 (GRCm39) |
intron |
probably benign |
|
|
Z1186:Or2w3b
|
UTSW |
11 |
58,623,200 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1186:Or2w3b
|
UTSW |
11 |
58,623,475 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Or2w3b
|
UTSW |
11 |
58,624,048 (GRCm39) |
intron |
probably benign |
|
|
Z1187:Or2w3b
|
UTSW |
11 |
58,623,200 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1187:Or2w3b
|
UTSW |
11 |
58,623,295 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1187:Or2w3b
|
UTSW |
11 |
58,623,475 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2w3b
|
UTSW |
11 |
58,623,475 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Or2w3b
|
UTSW |
11 |
58,623,295 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1188:Or2w3b
|
UTSW |
11 |
58,623,200 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1188:Or2w3b
|
UTSW |
11 |
58,624,048 (GRCm39) |
intron |
probably benign |
|
|
Z1189:Or2w3b
|
UTSW |
11 |
58,624,048 (GRCm39) |
intron |
probably benign |
|
|
Z1189:Or2w3b
|
UTSW |
11 |
58,623,475 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2w3b
|
UTSW |
11 |
58,623,475 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Or2w3b
|
UTSW |
11 |
58,623,295 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1190:Or2w3b
|
UTSW |
11 |
58,623,200 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1190:Or2w3b
|
UTSW |
11 |
58,624,048 (GRCm39) |
intron |
probably benign |
|
|
Z1191:Or2w3b
|
UTSW |
11 |
58,623,475 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Or2w3b
|
UTSW |
11 |
58,623,295 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1191:Or2w3b
|
UTSW |
11 |
58,623,200 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1191:Or2w3b
|
UTSW |
11 |
58,624,048 (GRCm39) |
intron |
probably benign |
|
|
Z1192:Or2w3b
|
UTSW |
11 |
58,623,475 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Or2w3b
|
UTSW |
11 |
58,623,295 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1192:Or2w3b
|
UTSW |
11 |
58,623,200 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1192:Or2w3b
|
UTSW |
11 |
58,624,048 (GRCm39) |
intron |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGTTCCTGAGCGTGTAG -3'
(R):5'- ATGTCTCCAGCAACTCTCAGC -3'
Sequencing Primer
(F):5'- AGCGTGTAGATCAGAGGGTTG -3'
(R):5'- GAGATGCCAGCTCTCATCAGGATG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation