Incidental Mutation 'R4229:Or4k36'
| ID |
320116 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4k36
|
| Ensembl Gene |
ENSMUSG00000109449 |
| Gene Name |
olfactory receptor family 4 subfamily K member 36 |
| Synonyms |
GA_x6K02T2Q125-72366920-72367837, Olfr1280, MOR248-1 |
| MMRRC Submission |
041048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R4229 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
111144362-111156348 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111146681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 286
(I286V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082167]
[ENSMUST00000090328]
[ENSMUST00000204064]
[ENSMUST00000213551]
[ENSMUST00000219291]
|
| AlphaFold |
Q8VGG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000082167
AA Change: I286V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080805
Gene: ENSMUSG00000109449
AA Change: I286V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
305 |
3.8e-50 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
9.9e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090328
AA Change: I286V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000087800
Gene: ENSMUSG00000109322
AA Change: I286V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
3.6e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
3.9e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204064
AA Change: I286V
|
| SMART Domains |
Protein: ENSMUSP00000145495
Gene: ENSMUSG00000109322
AA Change: I286V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
298 |
2.1e-39 |
PFAM |
|
Pfam:7tm_1
|
40 |
286 |
7.8e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213551
AA Change: I286V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219291
AA Change: I286V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.1106 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
98% (42/43) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aadac |
A |
G |
3: 59,939,234 (GRCm39) |
K3E |
possibly damaging |
Het |
| Cdc14a |
A |
G |
3: 116,087,413 (GRCm39) |
S533P |
probably damaging |
Het |
| Dsc3 |
G |
A |
18: 20,098,878 (GRCm39) |
T767I |
probably damaging |
Het |
| Dse |
A |
T |
10: 34,038,740 (GRCm39) |
M221K |
probably damaging |
Het |
| Etfb |
C |
A |
7: 43,105,984 (GRCm39) |
R174S |
probably damaging |
Het |
| Gm10735 |
T |
C |
13: 113,177,743 (GRCm39) |
|
probably benign |
Het |
| Gm27013 |
A |
T |
6: 130,654,308 (GRCm39) |
S385T |
possibly damaging |
Het |
| Gsap |
A |
G |
5: 21,451,975 (GRCm39) |
D339G |
probably benign |
Het |
| H2-T24 |
G |
A |
17: 36,325,721 (GRCm39) |
A290V |
probably benign |
Het |
| Ifi44l |
A |
T |
3: 151,468,514 (GRCm39) |
C5* |
probably null |
Het |
| Lipk |
A |
G |
19: 33,997,687 (GRCm39) |
Y56C |
probably damaging |
Het |
| Mrpl21 |
A |
G |
19: 3,336,901 (GRCm39) |
I91V |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,097,984 (GRCm39) |
E492G |
probably damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,304,122 (GRCm39) |
R70G |
possibly damaging |
Het |
| Or1e1 |
A |
T |
11: 73,245,058 (GRCm39) |
T160S |
probably damaging |
Het |
| Or4p18 |
T |
A |
2: 88,233,227 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,801 (GRCm39) |
I46N |
probably benign |
Het |
| Plaur |
T |
C |
7: 24,166,208 (GRCm39) |
V93A |
probably damaging |
Het |
| Ptprv |
C |
A |
1: 135,053,945 (GRCm39) |
|
noncoding transcript |
Het |
| Rabep1 |
A |
G |
11: 70,799,260 (GRCm39) |
T295A |
probably benign |
Het |
| Sec24b |
G |
T |
3: 129,834,368 (GRCm39) |
Q141K |
probably benign |
Het |
| Set |
A |
G |
2: 29,959,531 (GRCm39) |
Y139C |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,467,868 (GRCm39) |
S4272P |
probably benign |
Het |
| Tmc3 |
T |
C |
7: 83,246,610 (GRCm39) |
|
probably benign |
Het |
| Tmem229a |
T |
A |
6: 24,954,831 (GRCm39) |
I308F |
probably damaging |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,585 (GRCm39) |
M60L |
probably benign |
Het |
| Zfp148 |
A |
G |
16: 33,255,133 (GRCm39) |
E41G |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,618,544 (GRCm39) |
S534P |
probably damaging |
Het |
|
| Other mutations in Or4k36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01364:Or4k36
|
APN |
2 |
111,146,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01906:Or4k36
|
APN |
2 |
111,146,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0078:Or4k36
|
UTSW |
2 |
111,146,249 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0091:Or4k36
|
UTSW |
2 |
111,146,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0295:Or4k36
|
UTSW |
2 |
111,146,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1650:Or4k36
|
UTSW |
2 |
111,146,640 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1808:Or4k36
|
UTSW |
2 |
111,146,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2120:Or4k36
|
UTSW |
2 |
111,145,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3084:Or4k36
|
UTSW |
2 |
111,146,461 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3085:Or4k36
|
UTSW |
2 |
111,146,461 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3086:Or4k36
|
UTSW |
2 |
111,146,461 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3148:Or4k36
|
UTSW |
2 |
111,146,633 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4258:Or4k36
|
UTSW |
2 |
111,145,983 (GRCm39) |
missense |
probably benign |
|
|
R4908:Or4k36
|
UTSW |
2 |
111,146,574 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4972:Or4k36
|
UTSW |
2 |
111,146,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5051:Or4k36
|
UTSW |
2 |
111,146,599 (GRCm39) |
nonsense |
probably null |
|
|
R5551:Or4k36
|
UTSW |
2 |
111,145,916 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7573:Or4k36
|
UTSW |
2 |
111,146,277 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8808:Or4k36
|
UTSW |
2 |
111,146,239 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9156:Or4k36
|
UTSW |
2 |
111,145,827 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9405:Or4k36
|
UTSW |
2 |
111,146,460 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9450:Or4k36
|
UTSW |
2 |
111,146,398 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9493:Or4k36
|
UTSW |
2 |
111,146,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAAAGATGGCTCATCAAAGGCG -3'
(R):5'- ACAGGTAGTGTGTAGTCAATTGAAG -3'
Sequencing Primer
(F):5'- TCAAAGGCGCTCTCTACATG -3'
(R):5'- TCACAATGTTCTAATCTTCAGACAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation