Incidental Mutation 'R4711:Or8i2'
| ID |
353251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8i2
|
| Ensembl Gene |
ENSMUSG00000075166 |
| Gene Name |
olfactory receptor family 8 subfamily I member 2 |
| Synonyms |
MOR207-1, GA_x6K02T2Q125-48508763-48507833, Olfr1104 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.896)
|
| Stock # |
R4711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
86851954-86852886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86852370 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 173
(I173V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149240
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099869]
[ENSMUST00000214857]
[ENSMUST00000215972]
|
| AlphaFold |
A2AVB5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099869
AA Change: I173V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097454
Gene: ENSMUSG00000075166
AA Change: I173V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
9.3e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
2.3e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214857
AA Change: I173V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215972
AA Change: I173V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg14 |
G |
A |
14: 47,783,298 (GRCm39) |
R346C |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,366,288 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
A |
G |
6: 61,288,910 (GRCm39) |
N358D |
possibly damaging |
Het |
| Col20a1 |
G |
C |
2: 180,634,284 (GRCm39) |
G83A |
probably damaging |
Het |
| Copa |
T |
G |
1: 171,947,555 (GRCm39) |
F1124V |
probably damaging |
Het |
| Cyp2c66 |
G |
A |
19: 39,151,843 (GRCm39) |
R186H |
possibly damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,358,208 (GRCm39) |
T323M |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,618 (GRCm39) |
I664V |
possibly damaging |
Het |
| Erp29 |
A |
G |
5: 121,583,293 (GRCm39) |
I211T |
possibly damaging |
Het |
| Exd1 |
A |
G |
2: 119,369,232 (GRCm39) |
S128P |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,540,389 (GRCm39) |
N264Y |
probably damaging |
Het |
| Gsdma2 |
T |
A |
11: 98,540,439 (GRCm39) |
S119R |
probably damaging |
Het |
| H2ac1 |
C |
T |
13: 24,118,796 (GRCm39) |
P118S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,313,691 (GRCm39) |
|
probably null |
Het |
| Ino80c |
T |
C |
18: 24,247,222 (GRCm39) |
N59S |
probably benign |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mast4 |
A |
G |
13: 103,470,627 (GRCm39) |
V25A |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,012,336 (GRCm39) |
T193A |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,399,770 (GRCm39) |
F414L |
unknown |
Het |
| Nat10 |
A |
T |
2: 103,578,612 (GRCm39) |
C197* |
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,420,093 (GRCm39) |
K11E |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,645,069 (GRCm39) |
M1K |
probably null |
Het |
| Pak5 |
A |
G |
2: 135,929,437 (GRCm39) |
I582T |
probably damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,153,976 (GRCm39) |
I232V |
probably benign |
Het |
| Pde8b |
T |
A |
13: 95,166,958 (GRCm39) |
T664S |
probably benign |
Het |
| Pdik1l |
G |
C |
4: 134,006,301 (GRCm39) |
R214G |
probably benign |
Het |
| Prss37 |
C |
T |
6: 40,492,381 (GRCm39) |
V157M |
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,667 (GRCm39) |
|
noncoding transcript |
Het |
| Ring1 |
T |
C |
17: 34,241,333 (GRCm39) |
E261G |
possibly damaging |
Het |
| Sf3a3 |
C |
A |
4: 124,621,974 (GRCm39) |
D371E |
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,005,177 (GRCm39) |
|
probably null |
Het |
| Spred1 |
T |
A |
2: 117,005,866 (GRCm39) |
S209R |
probably benign |
Het |
| Tas2r121 |
T |
C |
6: 132,677,853 (GRCm39) |
T40A |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,242,537 (GRCm39) |
T187A |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 36,191,039 (GRCm39) |
V311I |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,527 (GRCm39) |
V683A |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,167 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,660,404 (GRCm39) |
A7439V |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,626,795 (GRCm39) |
I838T |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,861,536 (GRCm39) |
T183A |
probably benign |
Het |
|
| Other mutations in Or8i2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01534:Or8i2
|
APN |
2 |
86,852,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02533:Or8i2
|
APN |
2 |
86,852,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02662:Or8i2
|
APN |
2 |
86,852,346 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02704:Or8i2
|
APN |
2 |
86,852,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0145:Or8i2
|
UTSW |
2 |
86,852,134 (GRCm39) |
nonsense |
probably null |
|
|
R0625:Or8i2
|
UTSW |
2 |
86,851,964 (GRCm39) |
missense |
probably benign |
|
|
R1169:Or8i2
|
UTSW |
2 |
86,852,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1570:Or8i2
|
UTSW |
2 |
86,852,616 (GRCm39) |
missense |
probably benign |
|
|
R1727:Or8i2
|
UTSW |
2 |
86,852,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Or8i2
|
UTSW |
2 |
86,852,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2192:Or8i2
|
UTSW |
2 |
86,852,855 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3716:Or8i2
|
UTSW |
2 |
86,852,707 (GRCm39) |
nonsense |
probably null |
|
|
R3818:Or8i2
|
UTSW |
2 |
86,852,054 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6104:Or8i2
|
UTSW |
2 |
86,852,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6482:Or8i2
|
UTSW |
2 |
86,852,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7474:Or8i2
|
UTSW |
2 |
86,852,898 (GRCm39) |
start gained |
probably benign |
|
|
R7517:Or8i2
|
UTSW |
2 |
86,852,486 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7610:Or8i2
|
UTSW |
2 |
86,852,141 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7944:Or8i2
|
UTSW |
2 |
86,852,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7945:Or8i2
|
UTSW |
2 |
86,852,657 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8235:Or8i2
|
UTSW |
2 |
86,852,226 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8966:Or8i2
|
UTSW |
2 |
86,852,879 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9002:Or8i2
|
UTSW |
2 |
86,852,241 (GRCm39) |
missense |
probably benign |
0.41 |
|
X0019:Or8i2
|
UTSW |
2 |
86,851,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Or8i2
|
UTSW |
2 |
86,851,962 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACAGTGACCCCTGTGAG -3'
(R):5'- CTGGGATCCATGGCTTATGATC -3'
Sequencing Primer
(F):5'- GGCGCATGTAGAAAAAGCCTTCC -3'
(R):5'- CCATGGCTTATGATCGCTATGTAGC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation