Incidental Mutation 'R4987:Or8k33'
| ID |
385901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8k33
|
| Ensembl Gene |
ENSMUSG00000110912 |
| Gene Name |
olfactory receptor family 8 subfamily K member 33 |
| Synonyms |
GA_x6K02T2Q125-48039418-48038477, MOR192-1, Olfr1080 |
| MMRRC Submission |
042581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R4987 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
86383525-86388482 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 86383579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 296
(D296E)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000213185]
|
| AlphaFold |
Q7TR67 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000099881
AA Change: D296E
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000097466
Gene: ENSMUSG00000075178
AA Change: D296E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
290 |
1.5e-30 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
1.4e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213185
AA Change: D296E
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.8559 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.3%
|
| Validation Efficiency |
98% (44/45) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
T |
C |
6: 125,030,725 (GRCm39) |
S249P |
probably benign |
Het |
| Adcy4 |
A |
G |
14: 56,010,934 (GRCm39) |
V661A |
probably benign |
Het |
| Ahdc1 |
T |
G |
4: 132,791,631 (GRCm39) |
H957Q |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,042,440 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,587,952 (GRCm39) |
N57I |
probably damaging |
Het |
| Brms1l |
T |
A |
12: 55,912,800 (GRCm39) |
D264E |
probably benign |
Het |
| Camk1g |
T |
A |
1: 193,030,783 (GRCm39) |
N309Y |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,651,938 (GRCm39) |
T285A |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,454,635 (GRCm39) |
V227A |
probably benign |
Het |
| Dennd1c |
G |
T |
17: 57,380,852 (GRCm39) |
T200K |
probably damaging |
Het |
| Dpysl3 |
C |
A |
18: 43,461,492 (GRCm39) |
M566I |
probably benign |
Het |
| Dscam |
A |
T |
16: 96,498,721 (GRCm39) |
D985E |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,542,894 (GRCm39) |
M68T |
probably benign |
Het |
| Gm26996 |
A |
G |
6: 130,567,959 (GRCm39) |
|
unknown |
Het |
| Gm9991 |
A |
T |
1: 90,603,138 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmc |
T |
A |
14: 56,468,997 (GRCm39) |
I241L |
probably damaging |
Het |
| Hibadh |
A |
T |
6: 52,599,880 (GRCm39) |
S105R |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,384,890 (GRCm39) |
I402T |
probably benign |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,396 (GRCm39) |
D76G |
possibly damaging |
Het |
| Lin9 |
A |
G |
1: 180,496,329 (GRCm39) |
S249G |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,637,222 (GRCm39) |
|
probably null |
Het |
| Mfap4 |
A |
G |
11: 61,376,908 (GRCm39) |
I46V |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,064,598 (GRCm39) |
|
probably null |
Het |
| Nostrin |
A |
G |
2: 68,986,775 (GRCm39) |
M107V |
probably benign |
Het |
| Nutm2 |
C |
T |
13: 50,626,379 (GRCm39) |
T322I |
possibly damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,154,604 (GRCm39) |
V441E |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,587,118 (GRCm39) |
|
probably benign |
Het |
| Plscr1l1 |
T |
C |
9: 92,236,637 (GRCm39) |
S175P |
probably damaging |
Het |
| Ppme1 |
T |
C |
7: 99,994,278 (GRCm39) |
D145G |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,724,630 (GRCm39) |
V793A |
probably damaging |
Het |
| Rlbp1 |
A |
T |
7: 79,029,879 (GRCm39) |
V118E |
probably damaging |
Het |
| Serinc2 |
C |
T |
4: 130,156,820 (GRCm39) |
|
probably null |
Het |
| Slc25a32 |
A |
G |
15: 38,963,414 (GRCm39) |
C136R |
possibly damaging |
Het |
| Smco2 |
A |
G |
6: 146,757,590 (GRCm39) |
D48G |
possibly damaging |
Het |
| Trpv4 |
T |
C |
5: 114,760,793 (GRCm39) |
D846G |
probably benign |
Het |
| Ubr1 |
A |
T |
2: 120,794,047 (GRCm39) |
L46I |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,700,737 (GRCm39) |
|
probably benign |
Het |
| Zp3 |
T |
A |
5: 136,016,359 (GRCm39) |
C320* |
probably null |
Het |
|
| Other mutations in Or8k33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01937:Or8k33
|
APN |
2 |
86,383,793 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02169:Or8k33
|
APN |
2 |
86,384,226 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02234:Or8k33
|
APN |
2 |
86,383,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02530:Or8k33
|
APN |
2 |
86,384,224 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0046:Or8k33
|
UTSW |
2 |
86,383,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Or8k33
|
UTSW |
2 |
86,384,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0364:Or8k33
|
UTSW |
2 |
86,384,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Or8k33
|
UTSW |
2 |
86,383,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1496:Or8k33
|
UTSW |
2 |
86,384,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1609:Or8k33
|
UTSW |
2 |
86,383,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Or8k33
|
UTSW |
2 |
86,384,204 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1816:Or8k33
|
UTSW |
2 |
86,384,011 (GRCm39) |
nonsense |
probably null |
|
|
R2870:Or8k33
|
UTSW |
2 |
86,383,928 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2870:Or8k33
|
UTSW |
2 |
86,383,928 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4387:Or8k33
|
UTSW |
2 |
86,384,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Or8k33
|
UTSW |
2 |
86,384,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4924:Or8k33
|
UTSW |
2 |
86,383,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Or8k33
|
UTSW |
2 |
86,384,351 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6305:Or8k33
|
UTSW |
2 |
86,383,839 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6829:Or8k33
|
UTSW |
2 |
86,383,613 (GRCm39) |
nonsense |
probably null |
|
|
R7152:Or8k33
|
UTSW |
2 |
86,383,673 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7561:Or8k33
|
UTSW |
2 |
86,383,661 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7963:Or8k33
|
UTSW |
2 |
86,383,639 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8031:Or8k33
|
UTSW |
2 |
86,384,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Or8k33
|
UTSW |
2 |
86,383,623 (GRCm39) |
missense |
noncoding transcript |
|
|
R8349:Or8k33
|
UTSW |
2 |
86,383,980 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8449:Or8k33
|
UTSW |
2 |
86,383,980 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8490:Or8k33
|
UTSW |
2 |
86,384,027 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8787:Or8k33
|
UTSW |
2 |
86,384,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8801:Or8k33
|
UTSW |
2 |
86,383,727 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8808:Or8k33
|
UTSW |
2 |
86,384,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9035:Or8k33
|
UTSW |
2 |
86,384,021 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9301:Or8k33
|
UTSW |
2 |
86,383,818 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1088:Or8k33
|
UTSW |
2 |
86,384,310 (GRCm39) |
missense |
probably benign |
0.40 |
|
Z1191:Or8k33
|
UTSW |
2 |
86,384,471 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATATTTGGAAACTGGATTAGCACC -3'
(R):5'- AGCTGTTCTCAGGATGAACTC -3'
Sequencing Primer
(F):5'- TGGATTAGCACCAGAATTCAAGTAG -3'
(R):5'- CTCAGGATGAACTCTGCTGAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation