Incidental Mutation 'R4406:Or5b96'
| ID |
327682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b96
|
| Ensembl Gene |
ENSMUSG00000057817 |
| Gene Name |
olfactory receptor family 5 subfamily B member 96 |
| Synonyms |
Olfr1446, MOR202-2, GA_x6K02T2RE5P-3220047-3219130 |
| MMRRC Submission |
041688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4406 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12867013-12867939 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 12867598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 114
(Y114*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081236]
[ENSMUST00000207741]
[ENSMUST00000216805]
|
| AlphaFold |
Q8VFX4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081236
AA Change: Y114*
|
| SMART Domains |
Protein: ENSMUSP00000079994
Gene: ENSMUSG00000057817
AA Change: Y114*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
308 |
2e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
306 |
5.1e-6 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
9.7e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207319
AA Change: Y114*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207741
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216805
AA Change: Y114*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
T |
11: 84,171,275 (GRCm39) |
L1170F |
probably benign |
Het |
| Acss3 |
A |
T |
10: 106,889,198 (GRCm39) |
D207E |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,656,671 (GRCm39) |
S325P |
probably damaging |
Het |
| Ankrd37 |
A |
G |
8: 46,450,131 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,733,787 (GRCm39) |
P1059S |
probably damaging |
Het |
| Camkv |
T |
C |
9: 107,823,418 (GRCm39) |
|
probably null |
Het |
| Ces1f |
T |
C |
8: 93,989,950 (GRCm39) |
T387A |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,022,620 (GRCm39) |
L1653I |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,153,094 (GRCm39) |
A3706V |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Gm1527 |
G |
A |
3: 28,949,874 (GRCm39) |
V45M |
possibly damaging |
Het |
| Gm5084 |
A |
G |
13: 60,360,380 (GRCm39) |
|
noncoding transcript |
Het |
| Itpr1 |
T |
A |
6: 108,331,624 (GRCm39) |
H194Q |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,393,954 (GRCm39) |
L973Q |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,299 (GRCm39) |
T412A |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,184,894 (GRCm39) |
E420G |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Mib1 |
A |
C |
18: 10,763,289 (GRCm39) |
K446N |
probably damaging |
Het |
| Mrpl4 |
T |
C |
9: 20,918,231 (GRCm39) |
W146R |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
| Or2y1 |
G |
A |
11: 49,385,744 (GRCm39) |
R128H |
probably benign |
Het |
| Or5b105 |
A |
G |
19: 13,079,958 (GRCm39) |
S237P |
possibly damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
| Or9s15 |
T |
A |
1: 92,525,036 (GRCm39) |
M265K |
possibly damaging |
Het |
| Osbpl10 |
C |
T |
9: 114,938,549 (GRCm39) |
H70Y |
probably damaging |
Het |
| Pdilt |
A |
C |
7: 119,094,232 (GRCm39) |
S340A |
probably damaging |
Het |
| Ppan |
C |
A |
9: 20,802,288 (GRCm39) |
D226E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sema3g |
G |
A |
14: 30,950,116 (GRCm39) |
V766M |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,013,683 (GRCm39) |
N356I |
probably benign |
Het |
| Slco2b1 |
A |
T |
7: 99,314,096 (GRCm39) |
S496T |
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,260,602 (GRCm39) |
V11A |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Umod |
G |
A |
7: 119,065,287 (GRCm39) |
P581S |
probably damaging |
Het |
| Zfat |
A |
G |
15: 68,052,040 (GRCm39) |
S585P |
probably benign |
Het |
| Zfp472 |
C |
A |
17: 33,197,134 (GRCm39) |
T403N |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,748 (GRCm39) |
Q405R |
possibly damaging |
Het |
|
| Other mutations in Or5b96 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Or5b96
|
APN |
19 |
12,867,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01399:Or5b96
|
APN |
19 |
12,867,803 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01697:Or5b96
|
APN |
19 |
12,867,831 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01739:Or5b96
|
APN |
19 |
12,867,513 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01894:Or5b96
|
APN |
19 |
12,867,007 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0164:Or5b96
|
UTSW |
19 |
12,867,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0164:Or5b96
|
UTSW |
19 |
12,867,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1163:Or5b96
|
UTSW |
19 |
12,867,513 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1769:Or5b96
|
UTSW |
19 |
12,867,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Or5b96
|
UTSW |
19 |
12,867,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5207:Or5b96
|
UTSW |
19 |
12,867,801 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5627:Or5b96
|
UTSW |
19 |
12,867,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5995:Or5b96
|
UTSW |
19 |
12,867,961 (GRCm39) |
splice site |
probably null |
|
|
R7953:Or5b96
|
UTSW |
19 |
12,867,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8043:Or5b96
|
UTSW |
19 |
12,867,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8254:Or5b96
|
UTSW |
19 |
12,867,849 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8812:Or5b96
|
UTSW |
19 |
12,867,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:Or5b96
|
UTSW |
19 |
12,867,989 (GRCm39) |
intron |
probably benign |
|
|
X0062:Or5b96
|
UTSW |
19 |
12,867,927 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATCACATTGGACTTGCAGAAG -3'
(R):5'- ACCTAGGGATGATCCTGCTG -3'
Sequencing Primer
(F):5'- TCACATTGGACTTGCAGAAGGAGAG -3'
(R):5'- ATGATCCTGCTGATTGTCCTGGAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation