Incidental Mutation 'R5548:Or8b3b'
| ID |
434994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b3b
|
| Ensembl Gene |
ENSMUSG00000046150 |
| Gene Name |
olfactory receptor family 8 subfamily B member 3B |
| Synonyms |
GA_x6K02T2PVTD-32375756-32374818, MOR164-3, Olfr918 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R5548 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
38583800-38584777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38584600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 60
(I60V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055099]
[ENSMUST00000215461]
|
| AlphaFold |
E9PVZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055099
AA Change: I60V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057210
Gene: ENSMUSG00000046150
AA Change: I60V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
31 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
44 |
319 |
6.5e-48 |
PFAM |
|
Pfam:7tm_1
|
54 |
301 |
3.9e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213750
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215461
AA Change: I47V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216579
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
T |
C |
10: 28,849,863 (GRCm39) |
D191G |
probably benign |
Het |
| Ankrd39 |
C |
T |
1: 36,581,062 (GRCm39) |
G96R |
probably damaging |
Het |
| Cdh12 |
C |
T |
15: 21,492,740 (GRCm39) |
T253I |
probably damaging |
Het |
| Cox4i2 |
C |
T |
2: 152,599,011 (GRCm39) |
T56I |
possibly damaging |
Het |
| Cpsf1 |
A |
C |
15: 76,481,527 (GRCm39) |
D1141E |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,920,847 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,128,672 (GRCm39) |
D1194E |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,228,409 (GRCm39) |
H1676N |
probably benign |
Het |
| Eif4a3l1 |
T |
C |
6: 136,306,568 (GRCm39) |
V343A |
probably damaging |
Het |
| Fitm1 |
A |
G |
14: 55,813,154 (GRCm39) |
T6A |
probably benign |
Het |
| Galnt5 |
T |
A |
2: 57,904,922 (GRCm39) |
V495E |
probably damaging |
Het |
| Gtf2h2 |
C |
A |
13: 100,617,544 (GRCm39) |
R206L |
possibly damaging |
Het |
| Heatr5a |
A |
T |
12: 52,005,734 (GRCm39) |
Y80* |
probably null |
Het |
| Il17ra |
A |
G |
6: 120,455,434 (GRCm39) |
R348G |
probably benign |
Het |
| Mmp28 |
A |
T |
11: 83,334,733 (GRCm39) |
Y340* |
probably null |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,778 (GRCm39) |
T150S |
probably benign |
Het |
| Ms4a10 |
A |
T |
19: 10,945,484 (GRCm39) |
|
probably null |
Het |
| Muc5b |
A |
T |
7: 141,417,679 (GRCm39) |
I3542F |
probably benign |
Het |
| Mybbp1a |
T |
C |
11: 72,336,998 (GRCm39) |
L578P |
probably damaging |
Het |
| N4bp2l1 |
G |
A |
5: 150,496,420 (GRCm39) |
R65* |
probably null |
Het |
| Nhsl3 |
GGTG |
GGTGTG |
4: 129,117,773 (GRCm39) |
|
probably null |
Het |
| Nup188 |
T |
A |
2: 30,216,505 (GRCm39) |
Y770N |
probably damaging |
Het |
| Or8s5 |
T |
A |
15: 98,238,253 (GRCm39) |
T206S |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,827,381 (GRCm39) |
C1257S |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,004,942 (GRCm39) |
T1028A |
probably damaging |
Het |
| Pramel16 |
C |
T |
4: 143,676,550 (GRCm39) |
E185K |
probably benign |
Het |
| Qars1 |
C |
T |
9: 108,390,117 (GRCm39) |
P348S |
possibly damaging |
Het |
| Qrfpr |
T |
A |
3: 36,276,075 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Slc10a5 |
A |
T |
3: 10,399,377 (GRCm39) |
Y428N |
probably benign |
Het |
| Slc16a5 |
A |
T |
11: 115,360,630 (GRCm39) |
Y271F |
probably benign |
Het |
| Slc1a4 |
T |
A |
11: 20,254,429 (GRCm39) |
Q479L |
possibly damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,488,355 (GRCm39) |
G143S |
probably damaging |
Het |
| Susd1 |
G |
A |
4: 59,369,577 (GRCm39) |
T364M |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,628,587 (GRCm39) |
Y496* |
probably null |
Het |
| Tmem63b |
A |
G |
17: 45,975,884 (GRCm39) |
I523T |
probably damaging |
Het |
| Tnrc6c |
T |
C |
11: 117,651,669 (GRCm39) |
S1731P |
possibly damaging |
Het |
| Ttll3 |
T |
A |
6: 113,370,078 (GRCm39) |
W139R |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,187,401 (GRCm39) |
T3823M |
probably damaging |
Het |
| Vangl1 |
T |
A |
3: 102,091,762 (GRCm39) |
D108V |
possibly damaging |
Het |
| Vmn1r120 |
T |
C |
7: 20,787,482 (GRCm39) |
I76M |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,156,886 (GRCm39) |
Y17H |
probably damaging |
Het |
| Xkr4 |
C |
T |
1: 3,287,153 (GRCm39) |
A346T |
probably damaging |
Het |
| Zfp267 |
C |
G |
3: 36,219,640 (GRCm39) |
H554Q |
possibly damaging |
Het |
| Zfp600 |
T |
A |
4: 146,133,019 (GRCm39) |
S562R |
possibly damaging |
Het |
|
| Other mutations in Or8b3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Or8b3b
|
APN |
9 |
38,584,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01388:Or8b3b
|
APN |
9 |
38,584,379 (GRCm39) |
nonsense |
probably null |
|
|
IGL01516:Or8b3b
|
APN |
9 |
38,584,159 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02121:Or8b3b
|
APN |
9 |
38,584,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02209:Or8b3b
|
APN |
9 |
38,584,342 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02256:Or8b3b
|
APN |
9 |
38,584,776 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL02517:Or8b3b
|
APN |
9 |
38,584,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02648:Or8b3b
|
APN |
9 |
38,584,312 (GRCm39) |
missense |
probably benign |
|
|
IGL02747:Or8b3b
|
APN |
9 |
38,584,380 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02971:Or8b3b
|
APN |
9 |
38,584,564 (GRCm39) |
missense |
probably damaging |
0.96 |
|
E0370:Or8b3b
|
UTSW |
9 |
38,583,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0616:Or8b3b
|
UTSW |
9 |
38,584,776 (GRCm39) |
start codon destroyed |
probably null |
|
|
R2173:Or8b3b
|
UTSW |
9 |
38,584,240 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2989:Or8b3b
|
UTSW |
9 |
38,583,831 (GRCm39) |
missense |
probably benign |
|
|
R3430:Or8b3b
|
UTSW |
9 |
38,584,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3809:Or8b3b
|
UTSW |
9 |
38,584,159 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4688:Or8b3b
|
UTSW |
9 |
38,584,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4702:Or8b3b
|
UTSW |
9 |
38,584,776 (GRCm39) |
start codon destroyed |
probably null |
|
|
R5590:Or8b3b
|
UTSW |
9 |
38,584,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6082:Or8b3b
|
UTSW |
9 |
38,583,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6214:Or8b3b
|
UTSW |
9 |
38,584,510 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6215:Or8b3b
|
UTSW |
9 |
38,584,510 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6893:Or8b3b
|
UTSW |
9 |
38,584,355 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7215:Or8b3b
|
UTSW |
9 |
38,584,743 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7624:Or8b3b
|
UTSW |
9 |
38,583,919 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7862:Or8b3b
|
UTSW |
9 |
38,584,624 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8116:Or8b3b
|
UTSW |
9 |
38,584,464 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8897:Or8b3b
|
UTSW |
9 |
38,584,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8899:Or8b3b
|
UTSW |
9 |
38,584,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9114:Or8b3b
|
UTSW |
9 |
38,583,892 (GRCm39) |
missense |
probably benign |
|
|
R9293:Or8b3b
|
UTSW |
9 |
38,584,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9311:Or8b3b
|
UTSW |
9 |
38,583,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9690:Or8b3b
|
UTSW |
9 |
38,584,477 (GRCm39) |
nonsense |
probably null |
|
|
R9734:Or8b3b
|
UTSW |
9 |
38,584,239 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATAGCTGAGTCATGCACCC -3'
(R):5'- TTTTGGTCCCGTTGTCATGAAC -3'
Sequencing Primer
(F):5'- ACCCCTCATAGGAGATGGAATTCTTC -3'
(R):5'- GCTGATGAAATATTTTTGTCTGCCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation