Incidental Mutation 'R2339:Or4k39'
| ID |
246663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4k39
|
| Ensembl Gene |
ENSMUSG00000062280 |
| Gene Name |
olfactory receptor family 4 subfamily K member 39, pseudogene 1 |
| Synonyms |
GA_x6K02T2Q125-72459956-72460837, MOR248-25_p, MOR248-17P, Olfr1285 |
| MMRRC Submission |
040325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R2339 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
111238802-111239643 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 111239534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 258
(T258I)
|
| Gene Model |
predicted gene model for transcript(s):
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150164
AA Change: T258I
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000121467
Gene: ENSMUSG00000062280
AA Change: T258I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
24 |
293 |
2.9e-40 |
PFAM |
|
Pfam:7tm_1
|
34 |
280 |
1.8e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220153
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (32/32) |
| 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 |
|---|
| Aatf |
T |
C |
11: 84,402,323 (GRCm39) |
D121G |
probably benign |
Het |
| Ccdc168 |
G |
T |
1: 44,100,023 (GRCm39) |
D358E |
probably benign |
Het |
| Cilp2 |
A |
T |
8: 70,335,544 (GRCm39) |
S485T |
probably benign |
Het |
| Cux1 |
A |
C |
5: 136,315,862 (GRCm39) |
S1059R |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,314,028 (GRCm39) |
D1948G |
probably benign |
Het |
| Fyn |
A |
G |
10: 39,398,781 (GRCm39) |
T126A |
probably benign |
Het |
| Gm10134 |
C |
T |
2: 28,396,141 (GRCm39) |
S12F |
probably benign |
Het |
| Grm7 |
T |
C |
6: 111,472,642 (GRCm39) |
I827T |
possibly damaging |
Het |
| H1f4 |
T |
C |
13: 23,805,943 (GRCm39) |
|
probably benign |
Het |
| Hacd4 |
T |
A |
4: 88,341,336 (GRCm39) |
|
probably null |
Het |
| Helt |
T |
C |
8: 46,745,709 (GRCm39) |
N58S |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,248,543 (GRCm39) |
Y68H |
probably benign |
Het |
| Myof |
G |
T |
19: 37,926,375 (GRCm39) |
H1127N |
probably damaging |
Het |
| Nbas |
A |
T |
12: 13,412,593 (GRCm39) |
I971L |
probably benign |
Het |
| Pakap |
G |
A |
4: 57,883,180 (GRCm39) |
R882H |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,756,102 (GRCm39) |
|
probably benign |
Het |
| Pparg |
G |
T |
6: 115,428,005 (GRCm39) |
R164L |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,150,725 (GRCm39) |
N464Y |
possibly damaging |
Het |
| Ric8b |
T |
C |
10: 84,805,888 (GRCm39) |
V333A |
probably benign |
Het |
| Sall2 |
G |
A |
14: 52,550,813 (GRCm39) |
S792L |
probably damaging |
Het |
| Slc5a4b |
C |
A |
10: 75,944,383 (GRCm39) |
L87F |
probably damaging |
Het |
| Sox12 |
A |
G |
2: 152,238,958 (GRCm39) |
S221P |
possibly damaging |
Het |
| Tpr |
T |
A |
1: 150,289,525 (GRCm39) |
S619T |
probably benign |
Het |
| Trdmt1 |
G |
A |
2: 13,524,871 (GRCm39) |
Q195* |
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,750,640 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Upf2 |
A |
T |
2: 6,044,913 (GRCm39) |
|
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,710,389 (GRCm39) |
T704I |
probably benign |
Het |
|
| Other mutations in Or4k39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01328:Or4k39
|
APN |
2 |
111,239,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01819:Or4k39
|
APN |
2 |
111,239,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02109:Or4k39
|
APN |
2 |
111,238,838 (GRCm39) |
exon |
noncoding transcript |
|
|
IGL02407:Or4k39
|
APN |
2 |
111,238,923 (GRCm39) |
exon |
noncoding transcript |
|
|
R0054:Or4k39
|
UTSW |
2 |
111,239,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1665:Or4k39
|
UTSW |
2 |
111,239,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:Or4k39
|
UTSW |
2 |
111,238,967 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R4260:Or4k39
|
UTSW |
2 |
111,238,850 (GRCm39) |
exon |
noncoding transcript |
|
|
R4439:Or4k39
|
UTSW |
2 |
111,239,653 (GRCm39) |
exon |
noncoding transcript |
|
|
R4762:Or4k39
|
UTSW |
2 |
111,239,225 (GRCm39) |
exon |
noncoding transcript |
|
|
R4821:Or4k39
|
UTSW |
2 |
111,239,570 (GRCm39) |
exon |
noncoding transcript |
|
|
R5120:Or4k39
|
UTSW |
2 |
111,239,585 (GRCm39) |
exon |
noncoding transcript |
|
|
R5215:Or4k39
|
UTSW |
2 |
111,239,631 (GRCm39) |
exon |
noncoding transcript |
|
|
R5244:Or4k39
|
UTSW |
2 |
111,238,899 (GRCm39) |
exon |
noncoding transcript |
|
|
R5667:Or4k39
|
UTSW |
2 |
111,238,818 (GRCm39) |
exon |
noncoding transcript |
|
|
R5671:Or4k39
|
UTSW |
2 |
111,238,818 (GRCm39) |
exon |
noncoding transcript |
|
|
R5687:Or4k39
|
UTSW |
2 |
111,239,033 (GRCm39) |
exon |
noncoding transcript |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTAATAAATGCTGACAGTGGC -3'
(R):5'- AGTCAAGATGAGTCTAAATGGGTAC -3'
Sequencing Primer
(F):5'- GCTGACAGTGGCATTTTAGCAAC -3'
(R):5'- TGAGTCTAAATGGGTACAGAAAAAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation