Incidental Mutation 'R4346:Or5b94'
| ID |
324345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b94
|
| Ensembl Gene |
ENSMUSG00000044441 |
| Gene Name |
olfactory receptor family 5 subfamily B member 94 |
| Synonyms |
Olfr1442, GA_x6K02T2RE5P-3000589-3001527, MOR202-9 |
| MMRRC Submission |
041667-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R4346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12651543-12652607 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12651592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 8
(T8A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049724]
[ENSMUST00000057924]
[ENSMUST00000207341]
[ENSMUST00000208494]
[ENSMUST00000208657]
[ENSMUST00000213486]
[ENSMUST00000215134]
|
| AlphaFold |
Q0VEV7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049724
|
| SMART Domains |
Protein: ENSMUSP00000059886
Gene: ENSMUSG00000045030
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
2.4e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
303 |
1.5e-6 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
8.6e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057924
AA Change: T8A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000050632
Gene: ENSMUSG00000044441
AA Change: T8A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
7.9e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
303 |
1.6e-6 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.6e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207341
AA Change: T8A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208494
AA Change: T8A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208657
AA Change: T8A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213486
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215134
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (31/31) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| a |
G |
A |
2: 154,887,651 (GRCm39) |
R37Q |
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,583,264 (GRCm39) |
T128A |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 30,944,072 (GRCm39) |
Q1763L |
possibly damaging |
Het |
| Dvl3 |
G |
A |
16: 20,350,049 (GRCm39) |
R645H |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,263,759 (GRCm39) |
C730* |
probably null |
Het |
| Fbxo40 |
T |
C |
16: 36,790,525 (GRCm39) |
E195G |
probably benign |
Het |
| Frmd4a |
T |
C |
2: 4,612,844 (GRCm39) |
S1025P |
possibly damaging |
Het |
| Gba2 |
A |
G |
4: 43,571,337 (GRCm39) |
V204A |
probably benign |
Het |
| Igkv8-28 |
C |
T |
6: 70,121,096 (GRCm39) |
|
probably benign |
Het |
| Lef1 |
T |
C |
3: 130,988,357 (GRCm39) |
M308T |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,131,806 (GRCm39) |
N874S |
probably benign |
Het |
| Med12l |
A |
T |
3: 58,938,976 (GRCm39) |
T37S |
probably damaging |
Het |
| Ogfod2 |
A |
G |
5: 124,251,357 (GRCm39) |
Y57C |
probably damaging |
Het |
| Plxnd1 |
A |
G |
6: 115,954,941 (GRCm39) |
V607A |
probably benign |
Het |
| Pnpt1 |
A |
G |
11: 29,095,478 (GRCm39) |
D409G |
probably damaging |
Het |
| Pycr3 |
G |
A |
15: 75,790,580 (GRCm39) |
T93I |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,044,705 (GRCm39) |
Y201H |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,827,878 (GRCm39) |
V29M |
probably damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,010,055 (GRCm39) |
T185A |
possibly damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,304,692 (GRCm39) |
I221V |
probably benign |
Het |
| Tnfrsf19 |
C |
A |
14: 61,209,429 (GRCm39) |
|
probably null |
Het |
| Ttll11 |
T |
C |
2: 35,674,130 (GRCm39) |
N599S |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,638,926 (GRCm39) |
I13919L |
probably damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,577,537 (GRCm39) |
F334L |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,799,099 (GRCm39) |
|
probably benign |
Het |
| Zfp646 |
A |
G |
7: 127,478,681 (GRCm39) |
Y286C |
probably damaging |
Het |
|
| Other mutations in Or5b94 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Or5b94
|
APN |
19 |
12,651,924 (GRCm39) |
nonsense |
probably null |
|
|
IGL00969:Or5b94
|
APN |
19 |
12,651,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01788:Or5b94
|
APN |
19 |
12,652,442 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02081:Or5b94
|
APN |
19 |
12,652,180 (GRCm39) |
missense |
probably benign |
|
|
IGL02335:Or5b94
|
APN |
19 |
12,651,602 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02383:Or5b94
|
APN |
19 |
12,651,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02389:Or5b94
|
APN |
19 |
12,651,899 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02484:Or5b94
|
APN |
19 |
12,652,223 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02682:Or5b94
|
APN |
19 |
12,652,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03136:Or5b94
|
APN |
19 |
12,652,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0109:Or5b94
|
UTSW |
19 |
12,652,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0109:Or5b94
|
UTSW |
19 |
12,652,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0112:Or5b94
|
UTSW |
19 |
12,652,121 (GRCm39) |
missense |
probably benign |
|
|
R4005:Or5b94
|
UTSW |
19 |
12,652,210 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4611:Or5b94
|
UTSW |
19 |
12,652,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Or5b94
|
UTSW |
19 |
12,651,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5944:Or5b94
|
UTSW |
19 |
12,652,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6406:Or5b94
|
UTSW |
19 |
12,652,184 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6923:Or5b94
|
UTSW |
19 |
12,652,409 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7710:Or5b94
|
UTSW |
19 |
12,652,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8699:Or5b94
|
UTSW |
19 |
12,652,246 (GRCm39) |
missense |
probably benign |
0.21 |
|
Z1176:Or5b94
|
UTSW |
19 |
12,651,674 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGCACTTCATTCAATTGACTG -3'
(R):5'- TGTCCACCAGAGACAGGTTAGC -3'
Sequencing Primer
(F):5'- GGGTCTACCTAATAAGTTTCAGGCC -3'
(R):5'- CAGGTTAGCAAGAAAACAGTACATG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation