Incidental Mutation 'R4274:Or8a1b'
| ID |
324720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8a1b
|
| Ensembl Gene |
ENSMUSG00000061165 |
| Gene Name |
olfactory receptor family 8 subfamily A member 1B |
| Synonyms |
MOR171-3, M72, GA_x6K02T2PVTD-31389446-31388517, MOR171-3, Olfr160 |
| MMRRC Submission |
041077-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4274 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
37622644-37623576 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37623364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 70
(D70E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000104875]
[ENSMUST00000211952]
[ENSMUST00000215727]
|
| AlphaFold |
Q8VGE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000104875
AA Change: D70E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000100468
Gene: ENSMUSG00000061165
AA Change: D70E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
3.5e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.7e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211952
AA Change: D70E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215727
AA Change: D70E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.2568 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (55/56) |
| 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]
PHENOTYPE: Mice homozygous for a reporter allele respond heterogeneously to odorants and display abnormal innervation of glomeruli by olfactory sensory axons in the olfactory bulb. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,980,930 (GRCm39) |
Y36C |
probably damaging |
Het |
| Abcc4 |
T |
C |
14: 118,867,034 (GRCm39) |
R228G |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,926,932 (GRCm39) |
S528T |
probably benign |
Het |
| Adamts6 |
T |
A |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
| Ano8 |
G |
T |
8: 71,931,385 (GRCm39) |
|
probably benign |
Het |
| Ano9 |
T |
G |
7: 140,690,608 (GRCm39) |
Q48P |
probably benign |
Het |
| Atp13a1 |
T |
G |
8: 70,257,942 (GRCm39) |
L899R |
probably benign |
Het |
| Card10 |
G |
A |
15: 78,664,714 (GRCm39) |
R747W |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,828,820 (GRCm39) |
*295R |
probably null |
Het |
| Dhx9 |
A |
G |
1: 153,344,672 (GRCm39) |
I505T |
probably damaging |
Het |
| Dnajc17 |
A |
T |
2: 119,016,866 (GRCm39) |
S37T |
probably benign |
Het |
| Dot1l |
T |
A |
10: 80,619,822 (GRCm39) |
|
probably null |
Het |
| Dph7 |
A |
G |
2: 24,853,512 (GRCm39) |
N109S |
possibly damaging |
Het |
| Ednra |
C |
T |
8: 78,446,931 (GRCm39) |
G49D |
probably benign |
Het |
| Fam83g |
T |
C |
11: 61,592,554 (GRCm39) |
M259T |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,862,464 (GRCm39) |
D1736E |
probably damaging |
Het |
| Fetub |
T |
C |
16: 22,754,429 (GRCm39) |
I212T |
probably damaging |
Het |
| Foxc2 |
C |
A |
8: 121,844,439 (GRCm39) |
S362R |
probably benign |
Het |
| Gm8444 |
A |
G |
15: 81,727,734 (GRCm39) |
|
probably benign |
Het |
| Gpank1 |
G |
A |
17: 35,343,245 (GRCm39) |
E242K |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,522,896 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ighv1-20 |
A |
T |
12: 114,687,819 (GRCm39) |
W3R |
probably damaging |
Het |
| Kcnq1 |
T |
C |
7: 142,738,179 (GRCm39) |
I209T |
probably damaging |
Het |
| Me3 |
A |
T |
7: 89,455,934 (GRCm39) |
E262V |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 82,009,064 (GRCm39) |
R1233Q |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,574 (GRCm39) |
|
noncoding transcript |
Het |
| Or4k37 |
A |
T |
2: 111,159,160 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or5p6 |
C |
A |
7: 107,630,751 (GRCm39) |
K266N |
probably benign |
Het |
| Ostm1 |
T |
C |
10: 42,574,230 (GRCm39) |
F153L |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,751 (GRCm39) |
T532I |
possibly damaging |
Het |
| Prpf40a |
G |
A |
2: 53,036,184 (GRCm39) |
H624Y |
probably damaging |
Het |
| Rtn2 |
T |
C |
7: 19,021,249 (GRCm39) |
S210P |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,927,734 (GRCm39) |
Q24R |
probably benign |
Het |
| Smurf1 |
T |
C |
5: 144,833,585 (GRCm39) |
|
probably benign |
Het |
| Ssr1 |
G |
A |
13: 38,169,266 (GRCm39) |
L225F |
possibly damaging |
Het |
| Tlr6 |
A |
G |
5: 65,110,981 (GRCm39) |
I642T |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Tnrc18 |
T |
C |
5: 142,729,405 (GRCm39) |
K1674R |
unknown |
Het |
| Tns1 |
T |
A |
1: 73,967,257 (GRCm39) |
Y1115F |
probably damaging |
Het |
| Trim56 |
T |
A |
5: 137,142,541 (GRCm39) |
E325V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,606,318 (GRCm39) |
T18164A |
possibly damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
| Vmn2r125 |
T |
C |
4: 156,702,382 (GRCm39) |
I56T |
probably benign |
Het |
| Xkr5 |
T |
A |
8: 18,984,183 (GRCm39) |
H453L |
probably benign |
Het |
| Zcchc7 |
C |
T |
4: 44,931,335 (GRCm39) |
H496Y |
possibly damaging |
Het |
| Zfp82 |
C |
T |
7: 29,755,792 (GRCm39) |
R430H |
probably damaging |
Het |
| Zscan22 |
T |
C |
7: 12,640,251 (GRCm39) |
V6A |
probably benign |
Het |
|
| Other mutations in Or8a1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01989:Or8a1b
|
APN |
9 |
37,623,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02195:Or8a1b
|
APN |
9 |
37,623,417 (GRCm39) |
missense |
probably benign |
|
|
R0099:Or8a1b
|
UTSW |
9 |
37,622,750 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0124:Or8a1b
|
UTSW |
9 |
37,622,759 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0129:Or8a1b
|
UTSW |
9 |
37,623,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0882:Or8a1b
|
UTSW |
9 |
37,623,168 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1855:Or8a1b
|
UTSW |
9 |
37,623,266 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1988:Or8a1b
|
UTSW |
9 |
37,622,993 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2346:Or8a1b
|
UTSW |
9 |
37,622,661 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4164:Or8a1b
|
UTSW |
9 |
37,622,994 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4504:Or8a1b
|
UTSW |
9 |
37,622,760 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4505:Or8a1b
|
UTSW |
9 |
37,622,760 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4506:Or8a1b
|
UTSW |
9 |
37,622,760 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5017:Or8a1b
|
UTSW |
9 |
37,622,821 (GRCm39) |
nonsense |
probably null |
|
|
R5268:Or8a1b
|
UTSW |
9 |
37,623,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5316:Or8a1b
|
UTSW |
9 |
37,622,981 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5372:Or8a1b
|
UTSW |
9 |
37,623,234 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5385:Or8a1b
|
UTSW |
9 |
37,623,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Or8a1b
|
UTSW |
9 |
37,623,087 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5906:Or8a1b
|
UTSW |
9 |
37,623,101 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5990:Or8a1b
|
UTSW |
9 |
37,623,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6842:Or8a1b
|
UTSW |
9 |
37,622,885 (GRCm39) |
missense |
probably benign |
|
|
R7712:Or8a1b
|
UTSW |
9 |
37,623,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8132:Or8a1b
|
UTSW |
9 |
37,623,369 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8435:Or8a1b
|
UTSW |
9 |
37,622,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9054:Or8a1b
|
UTSW |
9 |
37,623,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Or8a1b
|
UTSW |
9 |
37,623,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or8a1b
|
UTSW |
9 |
37,622,860 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGTTGACAGATGGCCAC -3'
(R):5'- CACCCAGATACAATGGCTGCAG -3'
Sequencing Primer
(F):5'- TGGCCACATAGCGGTCATAG -3'
(R):5'- CAGAGTTTATCCTCAGAGGGCTAAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation