Incidental Mutation 'R2188:Or8u8'
| ID |
237912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8u8
|
| Ensembl Gene |
ENSMUSG00000075199 |
| Gene Name |
olfactory receptor family 8 subfamily U member 8 |
| Synonyms |
IE6, Olfr52, MOR185-6, GA_x6K02T2Q125-47650922-47649963 |
| MMRRC Submission |
040190-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.372)
|
| Stock # |
R2188 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
86011494-86012453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86011780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 225
(I225N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150060
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099905]
[ENSMUST00000215138]
[ENSMUST00000215171]
|
| AlphaFold |
Q8VFL0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099905
AA Change: I225N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097489
Gene: ENSMUSG00000075199
AA Change: I225N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
5e-56 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3.4e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215138
AA Change: I225N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215739
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,838,367 (GRCm39) |
L547P |
probably damaging |
Het |
| Arhgap29 |
A |
C |
3: 121,784,658 (GRCm39) |
D195A |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,835,976 (GRCm39) |
I274N |
probably damaging |
Het |
| Ccdc12 |
G |
T |
9: 110,485,699 (GRCm39) |
K23N |
possibly damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,920,388 (GRCm39) |
T668A |
probably benign |
Het |
| Cdc34b |
T |
C |
11: 94,632,998 (GRCm39) |
I66T |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,001,121 (GRCm39) |
I2408T |
probably damaging |
Het |
| Fam91a1 |
A |
C |
15: 58,302,512 (GRCm39) |
N284T |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,314,040 (GRCm39) |
E440V |
probably benign |
Het |
| Gm5134 |
T |
C |
10: 75,831,670 (GRCm39) |
S370P |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,309,947 (GRCm39) |
A3238T |
probably benign |
Het |
| Hmg20a |
A |
G |
9: 56,384,584 (GRCm39) |
E118G |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,475,267 (GRCm39) |
S409P |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,383,601 (GRCm39) |
F781I |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,737,181 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,298,971 (GRCm39) |
T857A |
probably benign |
Het |
| Mucl2 |
T |
A |
15: 103,927,840 (GRCm39) |
N39I |
probably damaging |
Het |
| Myl6 |
A |
G |
10: 128,328,566 (GRCm39) |
I27T |
possibly damaging |
Het |
| Ndor1 |
A |
T |
2: 25,141,765 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
A |
G |
7: 26,264,354 (GRCm39) |
E758G |
probably damaging |
Het |
| Or52h7 |
G |
A |
7: 104,213,883 (GRCm39) |
A152T |
probably benign |
Het |
| Parp3 |
G |
A |
9: 106,353,051 (GRCm39) |
R42W |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,798,600 (GRCm39) |
I495V |
probably damaging |
Het |
| Qrfprl |
C |
A |
6: 65,418,260 (GRCm39) |
H143N |
probably damaging |
Het |
| Sdsl |
C |
T |
5: 120,596,485 (GRCm39) |
G310S |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,614,411 (GRCm39) |
L531P |
probably damaging |
Het |
| Slc2a12 |
C |
T |
10: 22,540,736 (GRCm39) |
S197F |
probably benign |
Het |
| Snapc1 |
T |
A |
12: 74,017,001 (GRCm39) |
I213N |
probably damaging |
Het |
| Srpk1 |
A |
T |
17: 28,813,163 (GRCm39) |
I527N |
probably damaging |
Het |
| Steap2 |
G |
T |
5: 5,723,643 (GRCm39) |
Y412* |
probably null |
Het |
| Tbk1 |
A |
C |
10: 121,399,836 (GRCm39) |
Y329* |
probably null |
Het |
| Tekt5 |
T |
C |
16: 10,176,189 (GRCm39) |
E452G |
probably damaging |
Het |
| Tmc5 |
G |
T |
7: 118,254,178 (GRCm39) |
C672F |
probably damaging |
Het |
| Trim27 |
T |
C |
13: 21,367,987 (GRCm39) |
L201S |
probably damaging |
Het |
| Vil1 |
A |
C |
1: 74,466,724 (GRCm39) |
D638A |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
C |
T |
7: 6,320,610 (GRCm39) |
R134H |
probably benign |
Het |
|
| Other mutations in Or8u8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02238:Or8u8
|
APN |
2 |
86,011,939 (GRCm39) |
splice site |
probably null |
|
|
R0422:Or8u8
|
UTSW |
2 |
86,011,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0688:Or8u8
|
UTSW |
2 |
86,011,949 (GRCm39) |
splice site |
probably null |
|
|
R0976:Or8u8
|
UTSW |
2 |
86,012,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1240:Or8u8
|
UTSW |
2 |
86,012,453 (GRCm39) |
start codon destroyed |
possibly damaging |
0.94 |
|
R1316:Or8u8
|
UTSW |
2 |
86,011,709 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1865:Or8u8
|
UTSW |
2 |
86,011,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4072:Or8u8
|
UTSW |
2 |
86,011,991 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4222:Or8u8
|
UTSW |
2 |
86,012,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5096:Or8u8
|
UTSW |
2 |
86,012,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Or8u8
|
UTSW |
2 |
86,011,960 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5934:Or8u8
|
UTSW |
2 |
86,012,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6168:Or8u8
|
UTSW |
2 |
86,012,309 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6601:Or8u8
|
UTSW |
2 |
86,012,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7448:Or8u8
|
UTSW |
2 |
86,011,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7497:Or8u8
|
UTSW |
2 |
86,012,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9362:Or8u8
|
UTSW |
2 |
86,011,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9587:Or8u8
|
UTSW |
2 |
86,011,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9728:Or8u8
|
UTSW |
2 |
86,011,636 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9774:Or8u8
|
UTSW |
2 |
86,012,015 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGAGGCTGTAGATCAAAGGG -3'
(R):5'- TCCTCATGGCATTGATTCACAC -3'
Sequencing Primer
(F):5'- TTCAACATGGGGATGATCACTG -3'
(R):5'- ATGGCATTGATTCACACTCTTCTAAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation