Incidental Mutation 'R2474:Or8k35'
| ID |
253253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8k35
|
| Ensembl Gene |
ENSMUSG00000111689 |
| Gene Name |
olfactory receptor family 8 subfamily K member 35 |
| Synonyms |
MOR192-4_p, GA_x6K02T2Q125-48079993-48079157, Olfr1082 |
| MMRRC Submission |
040405-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.398)
|
| Stock # |
R2474 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
86424229-86429153 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86424957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 72
(V72F)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000215600]
|
| AlphaFold |
A0A1L1SUC9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111578
AA Change: V72F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000107204
Gene: ENSMUSG00000079239
AA Change: V72F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
290 |
5.6e-31 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
4.5e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111579
AA Change: V72F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107205
Gene: ENSMUSG00000079239
AA Change: V72F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
8.2e-48 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215600
AA Change: V72F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
A |
G |
3: 151,248,361 (GRCm39) |
T678A |
probably benign |
Het |
| Asb7 |
A |
T |
7: 66,328,901 (GRCm39) |
N46K |
probably damaging |
Het |
| Atxn7l2 |
A |
C |
3: 108,111,293 (GRCm39) |
S414R |
probably damaging |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Cxcl13 |
C |
T |
5: 96,107,816 (GRCm39) |
Q91* |
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,404,281 (GRCm39) |
N2754D |
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,422,045 (GRCm39) |
V125E |
probably damaging |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| Greb1 |
T |
C |
12: 16,764,954 (GRCm39) |
N393S |
possibly damaging |
Het |
| Hfm1 |
A |
T |
5: 107,020,282 (GRCm39) |
V1048D |
possibly damaging |
Het |
| Ilvbl |
T |
C |
10: 78,412,558 (GRCm39) |
V93A |
probably damaging |
Het |
| Itpkb |
A |
G |
1: 180,161,716 (GRCm39) |
D614G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lgi3 |
G |
A |
14: 70,770,689 (GRCm39) |
|
probably null |
Het |
| Mpeg1 |
G |
A |
19: 12,439,613 (GRCm39) |
C357Y |
probably damaging |
Het |
| Nedd1 |
A |
G |
10: 92,555,465 (GRCm39) |
F7L |
probably damaging |
Het |
| Or8g26 |
A |
G |
9: 39,095,846 (GRCm39) |
D121G |
probably damaging |
Het |
| Parp8 |
A |
T |
13: 117,029,577 (GRCm39) |
C510S |
possibly damaging |
Het |
| Phb1 |
T |
C |
11: 95,562,248 (GRCm39) |
F42L |
possibly damaging |
Het |
| Pik3r1 |
A |
T |
13: 101,839,284 (GRCm39) |
Y189* |
probably null |
Het |
| Rps5 |
T |
A |
7: 12,660,488 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Senp3 |
T |
A |
11: 69,564,923 (GRCm39) |
N516Y |
probably damaging |
Het |
| Tfap2b |
A |
T |
1: 19,284,599 (GRCm39) |
H169L |
possibly damaging |
Het |
| Tmem260 |
A |
G |
14: 48,733,781 (GRCm39) |
D226G |
probably null |
Het |
| Ttc6 |
G |
T |
12: 57,622,713 (GRCm39) |
R37S |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,222,392 (GRCm39) |
D609E |
possibly damaging |
Het |
| Vmn2r99 |
A |
T |
17: 19,598,891 (GRCm39) |
M192L |
probably benign |
Het |
| Zfp746 |
T |
C |
6: 48,041,703 (GRCm39) |
D341G |
probably damaging |
Het |
| Zfp941 |
A |
T |
7: 140,391,384 (GRCm39) |
H658Q |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 48,978,105 (GRCm39) |
I351N |
probably damaging |
Het |
|
| Other mutations in Or8k35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0483:Or8k35
|
UTSW |
2 |
86,424,752 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0675:Or8k35
|
UTSW |
2 |
86,424,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0718:Or8k35
|
UTSW |
2 |
86,424,425 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0727:Or8k35
|
UTSW |
2 |
86,424,724 (GRCm39) |
nonsense |
probably null |
|
|
R1517:Or8k35
|
UTSW |
2 |
86,424,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1850:Or8k35
|
UTSW |
2 |
86,424,448 (GRCm39) |
nonsense |
probably null |
|
|
R2430:Or8k35
|
UTSW |
2 |
86,425,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3009:Or8k35
|
UTSW |
2 |
86,424,714 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3122:Or8k35
|
UTSW |
2 |
86,424,954 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4006:Or8k35
|
UTSW |
2 |
86,424,908 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4007:Or8k35
|
UTSW |
2 |
86,424,908 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4581:Or8k35
|
UTSW |
2 |
86,424,572 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4762:Or8k35
|
UTSW |
2 |
86,424,381 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5617:Or8k35
|
UTSW |
2 |
86,424,345 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6118:Or8k35
|
UTSW |
2 |
86,424,758 (GRCm39) |
missense |
probably benign |
|
|
R6140:Or8k35
|
UTSW |
2 |
86,424,448 (GRCm39) |
nonsense |
probably null |
|
|
R6313:Or8k35
|
UTSW |
2 |
86,424,411 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6528:Or8k35
|
UTSW |
2 |
86,424,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6785:Or8k35
|
UTSW |
2 |
86,424,765 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6792:Or8k35
|
UTSW |
2 |
86,424,283 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6857:Or8k35
|
UTSW |
2 |
86,424,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Or8k35
|
UTSW |
2 |
86,424,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Or8k35
|
UTSW |
2 |
86,424,498 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8790:Or8k35
|
UTSW |
2 |
86,424,278 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8865:Or8k35
|
UTSW |
2 |
86,424,744 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9521:Or8k35
|
UTSW |
2 |
86,424,771 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCATTGTGACTAGAACCC -3'
(R):5'- GGGAATCACTGAGAACCCTG -3'
Sequencing Primer
(F):5'- GTCATTGTGACTAGAACCCAACATAC -3'
(R):5'- TCACTGAGAACCCTGAGCTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation