Incidental Mutation 'R6367:Or4c52'
| ID |
512729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c52
|
| Ensembl Gene |
ENSMUSG00000059112 |
| Gene Name |
olfactory receptor family 4 subfamily C member 52 |
| Synonyms |
GA_x6K02T2Q125-51447049-51447969, Olfr1263, MOR234-2 |
| MMRRC Submission |
044517-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R6367 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89845276-89846196 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89845360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 29
(I29V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111507]
[ENSMUST00000214382]
[ENSMUST00000216616]
[ENSMUST00000217065]
|
| AlphaFold |
Q8VG63 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111507
AA Change: I29V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000107132
Gene: ENSMUSG00000059112
AA Change: I29V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
25 |
299 |
7.6e-42 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
30 |
297 |
1.7e-5 |
PFAM |
|
Pfam:7tm_1
|
36 |
282 |
2.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214382
AA Change: I29V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216616
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216764
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217065
AA Change: I29V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,166,248 (GRCm39) |
N54D |
possibly damaging |
Het |
| Abca4 |
A |
C |
3: 121,897,229 (GRCm39) |
Q636P |
probably damaging |
Het |
| Agk |
T |
C |
6: 40,363,875 (GRCm39) |
F285S |
probably benign |
Het |
| Als2 |
C |
A |
1: 59,238,299 (GRCm39) |
V678L |
probably benign |
Het |
| Arhgap17 |
T |
C |
7: 122,907,586 (GRCm39) |
*231W |
probably null |
Het |
| Atp11b |
A |
G |
3: 35,838,686 (GRCm39) |
T89A |
probably damaging |
Het |
| Axl |
A |
T |
7: 25,486,858 (GRCm39) |
C50S |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,860,167 (GRCm39) |
D1246G |
probably damaging |
Het |
| Dip2b |
A |
T |
15: 100,013,795 (GRCm39) |
Q57L |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,582,951 (GRCm39) |
|
probably null |
Het |
| Enpep |
G |
T |
3: 129,125,730 (GRCm39) |
T134N |
possibly damaging |
Het |
| Ets1 |
C |
T |
9: 32,645,256 (GRCm39) |
Q168* |
probably null |
Het |
| Fanci |
T |
C |
7: 79,075,943 (GRCm39) |
C529R |
probably damaging |
Het |
| Fbxw28 |
A |
G |
9: 109,168,599 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
C |
T |
6: 136,686,776 (GRCm39) |
E796K |
probably damaging |
Het |
| Igsf9b |
G |
A |
9: 27,220,821 (GRCm39) |
W62* |
probably null |
Het |
| Kcng1 |
C |
A |
2: 168,104,572 (GRCm39) |
V425L |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,493,422 (GRCm39) |
S463P |
probably damaging |
Het |
| Lrba |
G |
C |
3: 86,275,869 (GRCm39) |
A1746P |
probably benign |
Het |
| Mgat4c |
G |
T |
10: 102,221,015 (GRCm39) |
|
probably null |
Het |
| Nckap1l |
G |
A |
15: 103,384,149 (GRCm39) |
M582I |
probably benign |
Het |
| Oacyl |
G |
T |
18: 65,858,515 (GRCm39) |
R207L |
probably damaging |
Het |
| Or12e13 |
T |
C |
2: 87,663,937 (GRCm39) |
C185R |
probably damaging |
Het |
| Or2m12 |
C |
T |
16: 19,104,822 (GRCm39) |
V224M |
probably damaging |
Het |
| Or51f5 |
C |
A |
7: 102,424,036 (GRCm39) |
Q102K |
possibly damaging |
Het |
| Pacsin2 |
C |
T |
15: 83,266,033 (GRCm39) |
A55T |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,367,016 (GRCm39) |
D208G |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,501,663 (GRCm39) |
D1181G |
probably benign |
Het |
| Safb |
A |
G |
17: 56,900,845 (GRCm39) |
|
probably benign |
Het |
| Scp2 |
T |
A |
4: 107,969,447 (GRCm39) |
Y35F |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,836,177 (GRCm39) |
Y757C |
probably damaging |
Het |
| Sp110 |
C |
T |
1: 85,522,013 (GRCm39) |
V97M |
probably benign |
Het |
| Ssx2ip |
A |
G |
3: 146,124,921 (GRCm39) |
Y82C |
probably benign |
Het |
| Svopl |
A |
T |
6: 37,996,614 (GRCm39) |
W288R |
possibly damaging |
Het |
| Tdg |
T |
C |
10: 82,483,822 (GRCm39) |
Y345H |
possibly damaging |
Het |
| Tmem109 |
A |
G |
19: 10,851,727 (GRCm39) |
F53S |
possibly damaging |
Het |
| Tpsab1 |
G |
T |
17: 25,562,448 (GRCm39) |
T293N |
probably damaging |
Het |
| Trpm8 |
A |
G |
1: 88,287,405 (GRCm39) |
D796G |
probably damaging |
Het |
| Tuba1c |
T |
C |
15: 98,935,334 (GRCm39) |
I265T |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,711,925 (GRCm39) |
V2749A |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,623,719 (GRCm39) |
L173P |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wbp2 |
G |
T |
11: 115,974,741 (GRCm39) |
T31N |
probably benign |
Het |
| Wdr1 |
G |
T |
5: 38,703,189 (GRCm39) |
A129D |
possibly damaging |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
|
| Other mutations in Or4c52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01352:Or4c52
|
APN |
2 |
89,846,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01512:Or4c52
|
APN |
2 |
89,845,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01722:Or4c52
|
APN |
2 |
89,845,351 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01787:Or4c52
|
APN |
2 |
89,845,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02376:Or4c52
|
APN |
2 |
89,845,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03408:Or4c52
|
APN |
2 |
89,845,915 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0367:Or4c52
|
UTSW |
2 |
89,846,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0765:Or4c52
|
UTSW |
2 |
89,846,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1158:Or4c52
|
UTSW |
2 |
89,845,598 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1705:Or4c52
|
UTSW |
2 |
89,845,855 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1794:Or4c52
|
UTSW |
2 |
89,845,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2197:Or4c52
|
UTSW |
2 |
89,845,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2347:Or4c52
|
UTSW |
2 |
89,845,958 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2442:Or4c52
|
UTSW |
2 |
89,845,685 (GRCm39) |
missense |
probably benign |
|
|
R3160:Or4c52
|
UTSW |
2 |
89,845,365 (GRCm39) |
nonsense |
probably null |
|
|
R3162:Or4c52
|
UTSW |
2 |
89,845,365 (GRCm39) |
nonsense |
probably null |
|
|
R4298:Or4c52
|
UTSW |
2 |
89,845,993 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4898:Or4c52
|
UTSW |
2 |
89,845,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:Or4c52
|
UTSW |
2 |
89,845,706 (GRCm39) |
missense |
probably benign |
|
|
R6280:Or4c52
|
UTSW |
2 |
89,845,393 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6556:Or4c52
|
UTSW |
2 |
89,845,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Or4c52
|
UTSW |
2 |
89,845,594 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7502:Or4c52
|
UTSW |
2 |
89,845,355 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7585:Or4c52
|
UTSW |
2 |
89,845,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7963:Or4c52
|
UTSW |
2 |
89,846,003 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8062:Or4c52
|
UTSW |
2 |
89,846,080 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGCATGGGATGTGATAC -3'
(R):5'- TGAAGGATATGGTGCTCTTCTCAG -3'
Sequencing Primer
(F):5'- TGATACTGAGAAGAAATGCAGCTAC -3'
(R):5'- TCTTCTCAGAGATTAGGTCATAGATC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation