Incidental Mutation 'R3708:Or52r1c'
| ID |
259442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52r1c
|
| Ensembl Gene |
ENSMUSG00000073959 |
| Gene Name |
olfactory receptor family 52 subfamily R member 1C |
| Synonyms |
MOR30-2, Olfr584, GA_x6K02T2PBJ9-5796876-5797820 |
| MMRRC Submission |
040701-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R3708 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102734727-102735686 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 102735501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 254
(Y254D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151043
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098210]
[ENSMUST00000211036]
[ENSMUST00000214215]
|
| AlphaFold |
Q8VGW0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098210
AA Change: Y259D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095811
Gene: ENSMUSG00000073959
AA Change: Y259D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
38 |
317 |
1.4e-110 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
42 |
234 |
2.1e-9 |
PFAM |
|
Pfam:7tm_1
|
48 |
299 |
4.6e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211036
AA Change: Y254D
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214215
AA Change: Y254D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2569 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.1%
|
| Validation Efficiency |
98% (51/52) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abcc5 |
G |
T |
16: 20,190,930 (GRCm39) |
Q807K |
probably benign |
Het |
| Amfr |
T |
C |
8: 94,709,948 (GRCm39) |
H419R |
probably benign |
Het |
| Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
| Atxn7l3 |
G |
A |
11: 102,182,705 (GRCm39) |
|
probably benign |
Het |
| Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
| Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
| Celf2 |
C |
A |
2: 6,629,489 (GRCm39) |
K137N |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,231,874 (GRCm39) |
Y1071* |
probably null |
Het |
| Cyp2d10 |
A |
G |
15: 82,287,217 (GRCm39) |
F469L |
possibly damaging |
Het |
| Cyp3a41a |
A |
G |
5: 145,654,733 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,958,631 (GRCm39) |
I2158L |
probably damaging |
Het |
| Dtnb |
T |
A |
12: 3,639,156 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
C |
12: 110,609,563 (GRCm39) |
F2782L |
probably damaging |
Het |
| Ednrb |
A |
G |
14: 104,054,516 (GRCm39) |
Y439H |
probably damaging |
Het |
| Ferd3l |
T |
C |
12: 33,978,748 (GRCm39) |
V87A |
probably benign |
Het |
| Gphn |
T |
A |
12: 78,579,467 (GRCm39) |
S320T |
probably benign |
Het |
| Gpr39 |
C |
T |
1: 125,800,349 (GRCm39) |
H367Y |
probably damaging |
Het |
| Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
| Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
| Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
| Lrba |
A |
G |
3: 86,192,331 (GRCm39) |
M82V |
possibly damaging |
Het |
| Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,455,714 (GRCm39) |
|
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,235,513 (GRCm39) |
K647R |
probably damaging |
Het |
| Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
| Nup50l |
G |
A |
6: 96,142,933 (GRCm39) |
T37I |
possibly damaging |
Het |
| Obox7 |
C |
A |
7: 14,398,122 (GRCm39) |
S54* |
probably null |
Het |
| Or2n1c |
A |
G |
17: 38,519,174 (GRCm39) |
I13V |
probably benign |
Het |
| Or8b101 |
T |
C |
9: 38,020,740 (GRCm39) |
S253P |
probably damaging |
Het |
| Or9g20 |
T |
A |
2: 85,630,342 (GRCm39) |
I91L |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,442 (GRCm39) |
I79K |
probably benign |
Het |
| Pi4k2a |
C |
T |
19: 42,079,370 (GRCm39) |
Q144* |
probably null |
Het |
| Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
| Pnma8a |
T |
A |
7: 16,694,150 (GRCm39) |
S2T |
probably damaging |
Het |
| Ppfia4 |
T |
C |
1: 134,237,398 (GRCm39) |
E967G |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rims3 |
A |
G |
4: 120,740,352 (GRCm39) |
T100A |
probably damaging |
Het |
| Serpinb9 |
A |
T |
13: 33,192,002 (GRCm39) |
N61I |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,850,856 (GRCm39) |
M614T |
probably benign |
Het |
| Slc6a17 |
C |
T |
3: 107,400,401 (GRCm39) |
V243I |
probably benign |
Het |
| Smad9 |
A |
T |
3: 54,693,602 (GRCm39) |
Y177F |
probably benign |
Het |
| Vmn2r69 |
T |
C |
7: 85,061,029 (GRCm39) |
D185G |
probably damaging |
Het |
| Vps36 |
G |
T |
8: 22,682,899 (GRCm39) |
V5L |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,300,136 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or52r1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01618:Or52r1c
|
APN |
7 |
102,735,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02113:Or52r1c
|
APN |
7 |
102,735,057 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02398:Or52r1c
|
APN |
7 |
102,735,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02718:Or52r1c
|
APN |
7 |
102,734,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02941:Or52r1c
|
APN |
7 |
102,735,528 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02942:Or52r1c
|
APN |
7 |
102,735,405 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0496:Or52r1c
|
UTSW |
7 |
102,734,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Or52r1c
|
UTSW |
7 |
102,735,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0646:Or52r1c
|
UTSW |
7 |
102,735,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1652:Or52r1c
|
UTSW |
7 |
102,735,013 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2312:Or52r1c
|
UTSW |
7 |
102,735,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2849:Or52r1c
|
UTSW |
7 |
102,735,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2937:Or52r1c
|
UTSW |
7 |
102,735,548 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3176:Or52r1c
|
UTSW |
7 |
102,734,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3276:Or52r1c
|
UTSW |
7 |
102,734,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4737:Or52r1c
|
UTSW |
7 |
102,735,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5045:Or52r1c
|
UTSW |
7 |
102,735,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5172:Or52r1c
|
UTSW |
7 |
102,734,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5849:Or52r1c
|
UTSW |
7 |
102,734,728 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R6294:Or52r1c
|
UTSW |
7 |
102,734,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6846:Or52r1c
|
UTSW |
7 |
102,735,265 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6869:Or52r1c
|
UTSW |
7 |
102,735,075 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R6936:Or52r1c
|
UTSW |
7 |
102,735,021 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7133:Or52r1c
|
UTSW |
7 |
102,735,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7724:Or52r1c
|
UTSW |
7 |
102,735,470 (GRCm39) |
nonsense |
probably null |
|
|
R7772:Or52r1c
|
UTSW |
7 |
102,735,388 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9341:Or52r1c
|
UTSW |
7 |
102,735,324 (GRCm39) |
nonsense |
probably null |
|
|
R9343:Or52r1c
|
UTSW |
7 |
102,735,324 (GRCm39) |
nonsense |
probably null |
|
|
R9718:Or52r1c
|
UTSW |
7 |
102,735,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9752:Or52r1c
|
UTSW |
7 |
102,735,669 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCTACTGTGAGCACATGG -3'
(R):5'- CTTTTACACAAAACCCTCGGG -3'
Sequencing Primer
(F):5'- TGCTGATACCAGAGTCAATCGTG -3'
(R):5'- GGTAACCCTGTCTCTGATCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation