Incidental Mutation 'R4398:Or13a20'
ID |
325586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or13a20
|
Ensembl Gene |
ENSMUSG00000094819 |
Gene Name |
olfactory receptor family 13 subfamily A member 20 |
Synonyms |
MOR253-5, GA_x6K02T2PBJ9-42798103-42799038, Olfr53, IE12 |
MMRRC Submission |
041130-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R4398 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
140226365-140232832 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 140232741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 283
(V283A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084456]
[ENSMUST00000211057]
[ENSMUST00000211399]
|
AlphaFold |
Q8VGL8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084456
AA Change: V283A
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000081494 Gene: ENSMUSG00000094819 AA Change: V283A
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
33 |
309 |
6.5e-51 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
37 |
208 |
9.7e-7 |
PFAM |
Pfam:7tm_1
|
43 |
292 |
1.6e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211057
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211399
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
96% (53/55) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
C |
A |
15: 94,231,576 (GRCm39) |
R871L |
possibly damaging |
Het |
Adcy5 |
G |
A |
16: 35,089,363 (GRCm39) |
C520Y |
probably damaging |
Het |
AI661453 |
G |
A |
17: 47,779,042 (GRCm39) |
|
probably benign |
Het |
Bptf |
T |
C |
11: 107,001,670 (GRCm39) |
K481E |
probably damaging |
Het |
Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
Ctc1 |
C |
T |
11: 68,913,697 (GRCm39) |
P200S |
probably damaging |
Het |
Dact1 |
T |
C |
12: 71,363,959 (GRCm39) |
Y210H |
probably damaging |
Het |
Dbn1 |
T |
C |
13: 55,623,194 (GRCm39) |
T430A |
probably benign |
Het |
Dmd |
A |
C |
X: 82,765,624 (GRCm39) |
T657P |
probably benign |
Het |
Efnb2 |
C |
T |
8: 8,670,832 (GRCm39) |
R256H |
possibly damaging |
Het |
Eif4a1 |
T |
C |
11: 69,560,070 (GRCm39) |
I116M |
possibly damaging |
Het |
F730035P03Rik |
A |
T |
7: 99,429,475 (GRCm39) |
|
noncoding transcript |
Het |
Fbn1 |
C |
T |
2: 125,239,701 (GRCm39) |
V329I |
probably benign |
Het |
Gpr20 |
G |
A |
15: 73,568,125 (GRCm39) |
T88I |
probably benign |
Het |
Herc1 |
T |
G |
9: 66,386,735 (GRCm39) |
V3783G |
probably benign |
Het |
Khdc1a |
A |
G |
1: 21,420,617 (GRCm39) |
D79G |
possibly damaging |
Het |
Klk1b16 |
A |
T |
7: 43,790,851 (GRCm39) |
I218F |
probably damaging |
Het |
Malrd1 |
C |
T |
2: 16,155,594 (GRCm39) |
T2001I |
unknown |
Het |
Mia3 |
A |
G |
1: 183,111,733 (GRCm39) |
S556P |
probably damaging |
Het |
Myo3a |
T |
A |
2: 22,467,854 (GRCm39) |
D369E |
probably benign |
Het |
Nelfa |
T |
C |
5: 34,058,623 (GRCm39) |
D279G |
possibly damaging |
Het |
Ntrk3 |
A |
T |
7: 77,900,517 (GRCm39) |
C607* |
probably null |
Het |
Pclo |
A |
T |
5: 14,825,380 (GRCm39) |
Q1371L |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,376,061 (GRCm39) |
V1358E |
probably benign |
Het |
Pgr |
T |
C |
9: 8,903,750 (GRCm39) |
|
probably null |
Het |
Prag1 |
A |
G |
8: 36,570,809 (GRCm39) |
D464G |
probably damaging |
Het |
Prickle4 |
A |
G |
17: 48,001,456 (GRCm39) |
|
probably benign |
Het |
Prim2 |
A |
G |
1: 33,551,192 (GRCm39) |
Y309H |
probably damaging |
Het |
Prkaa1 |
A |
G |
15: 5,206,642 (GRCm39) |
Q464R |
possibly damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rint1 |
T |
A |
5: 23,999,445 (GRCm39) |
I78K |
possibly damaging |
Het |
Rnf130 |
T |
A |
11: 49,962,205 (GRCm39) |
F217Y |
probably benign |
Het |
Smad7 |
T |
C |
18: 75,527,234 (GRCm39) |
V360A |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Stag1 |
A |
G |
9: 100,838,659 (GRCm39) |
|
probably benign |
Het |
Tlr12 |
T |
A |
4: 128,509,988 (GRCm39) |
D754V |
probably benign |
Het |
Tmf1 |
G |
A |
6: 97,155,857 (GRCm39) |
P43L |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,027,630 (GRCm39) |
N873S |
probably benign |
Het |
Tsn |
C |
T |
1: 118,238,799 (GRCm39) |
|
probably benign |
Het |
Ubn1 |
A |
G |
16: 4,882,289 (GRCm39) |
K250R |
probably damaging |
Het |
Vmn1r25 |
A |
T |
6: 57,955,812 (GRCm39) |
V159D |
probably damaging |
Het |
Vmn2r89 |
T |
C |
14: 51,689,551 (GRCm39) |
L18P |
probably damaging |
Het |
Vps8 |
T |
G |
16: 21,323,216 (GRCm39) |
N689K |
probably damaging |
Het |
Ythdc1 |
T |
A |
5: 86,963,513 (GRCm39) |
D30E |
possibly damaging |
Het |
Ythdc1 |
G |
T |
5: 86,983,679 (GRCm39) |
|
probably benign |
Het |
Zfp407 |
G |
A |
18: 84,580,856 (GRCm39) |
Q86* |
probably null |
Het |
Zfp521 |
C |
T |
18: 13,979,601 (GRCm39) |
E271K |
probably benign |
Het |
|
Other mutations in Or13a20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01017:Or13a20
|
APN |
7 |
140,232,389 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01071:Or13a20
|
APN |
7 |
140,232,827 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02590:Or13a20
|
APN |
7 |
140,232,305 (GRCm39) |
splice site |
probably null |
|
IGL02694:Or13a20
|
APN |
7 |
140,232,093 (GRCm39) |
missense |
probably damaging |
0.99 |
R0071:Or13a20
|
UTSW |
7 |
140,232,170 (GRCm39) |
missense |
probably benign |
0.00 |
R0071:Or13a20
|
UTSW |
7 |
140,232,170 (GRCm39) |
missense |
probably benign |
0.00 |
R0089:Or13a20
|
UTSW |
7 |
140,232,224 (GRCm39) |
missense |
probably damaging |
0.99 |
R0586:Or13a20
|
UTSW |
7 |
140,231,976 (GRCm39) |
missense |
probably benign |
0.35 |
R1209:Or13a20
|
UTSW |
7 |
140,231,927 (GRCm39) |
missense |
probably benign |
0.03 |
R1491:Or13a20
|
UTSW |
7 |
140,232,650 (GRCm39) |
missense |
probably damaging |
1.00 |
R1781:Or13a20
|
UTSW |
7 |
140,232,419 (GRCm39) |
missense |
probably damaging |
0.99 |
R4060:Or13a20
|
UTSW |
7 |
140,232,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R4231:Or13a20
|
UTSW |
7 |
140,232,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R4236:Or13a20
|
UTSW |
7 |
140,232,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R4299:Or13a20
|
UTSW |
7 |
140,232,156 (GRCm39) |
missense |
probably benign |
0.00 |
R4675:Or13a20
|
UTSW |
7 |
140,232,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R4937:Or13a20
|
UTSW |
7 |
140,232,534 (GRCm39) |
missense |
probably benign |
0.00 |
R5854:Or13a20
|
UTSW |
7 |
140,232,491 (GRCm39) |
missense |
probably benign |
0.03 |
R6124:Or13a20
|
UTSW |
7 |
140,232,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R7092:Or13a20
|
UTSW |
7 |
140,232,150 (GRCm39) |
missense |
probably benign |
0.16 |
R7167:Or13a20
|
UTSW |
7 |
140,232,466 (GRCm39) |
nonsense |
probably null |
|
R7846:Or13a20
|
UTSW |
7 |
140,232,374 (GRCm39) |
missense |
probably damaging |
0.96 |
R7896:Or13a20
|
UTSW |
7 |
140,232,814 (GRCm39) |
missense |
probably benign |
0.00 |
R8080:Or13a20
|
UTSW |
7 |
140,232,387 (GRCm39) |
missense |
probably benign |
0.05 |
R8847:Or13a20
|
UTSW |
7 |
140,232,326 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8926:Or13a20
|
UTSW |
7 |
140,232,113 (GRCm39) |
missense |
probably benign |
0.03 |
R9391:Or13a20
|
UTSW |
7 |
140,232,272 (GRCm39) |
missense |
probably damaging |
0.99 |
R9414:Or13a20
|
UTSW |
7 |
140,232,263 (GRCm39) |
missense |
probably damaging |
0.96 |
R9484:Or13a20
|
UTSW |
7 |
140,231,904 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Or13a20
|
UTSW |
7 |
140,232,700 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCTTTCTGGGAGGCATCAAC -3'
(R):5'- ATGCTCCATGAAGCTGCTC -3'
Sequencing Primer
(F):5'- GGGAGGCATCAACTTCATGTTAACC -3'
(R):5'- CTCCATGAAGCTGCTCTTAGGAAAG -3'
|
Posted On |
2015-07-06 |