Incidental Mutation 'IGL01017:Or13a20'
| ID |
53677 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
IGL01017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140226365-140232832 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140232389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 166
(T166A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084456]
[ENSMUST00000211057]
[ENSMUST00000211399]
|
| AlphaFold |
Q8VGL8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084456
AA Change: T166A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000081494
Gene: ENSMUSG00000094819
AA Change: T166A
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
G |
A |
5: 88,607,218 (GRCm39) |
A29T |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,467 (GRCm39) |
K795R |
probably damaging |
Het |
| Atg3 |
T |
C |
16: 45,004,174 (GRCm39) |
|
probably null |
Het |
| Ccdc169 |
T |
C |
3: 55,078,739 (GRCm39) |
V200A |
possibly damaging |
Het |
| Cdr2l |
C |
A |
11: 115,283,564 (GRCm39) |
Q141K |
probably damaging |
Het |
| Cts3 |
T |
A |
13: 61,715,988 (GRCm39) |
I93F |
probably damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,171,287 (GRCm39) |
L372S |
probably damaging |
Het |
| Elovl5 |
T |
C |
9: 77,888,853 (GRCm39) |
I240T |
possibly damaging |
Het |
| Farp1 |
C |
T |
14: 121,510,186 (GRCm39) |
A728V |
possibly damaging |
Het |
| Fbln1 |
A |
G |
15: 85,128,390 (GRCm39) |
D529G |
possibly damaging |
Het |
| Flnb |
G |
T |
14: 7,917,390 (GRCm38) |
|
probably benign |
Het |
| Gm14401 |
A |
T |
2: 176,778,625 (GRCm39) |
H237L |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,956,443 (GRCm39) |
H1586Q |
probably damaging |
Het |
| Igkv12-98 |
T |
A |
6: 68,548,093 (GRCm39) |
L74* |
probably null |
Het |
| Iigp1c |
T |
A |
18: 60,378,508 (GRCm39) |
D14E |
possibly damaging |
Het |
| Ktn1 |
T |
C |
14: 47,946,335 (GRCm39) |
S917P |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,574,200 (GRCm39) |
|
probably null |
Het |
| Lamb1 |
A |
G |
12: 31,351,063 (GRCm39) |
D723G |
possibly damaging |
Het |
| Lrrc39 |
A |
T |
3: 116,364,500 (GRCm39) |
R130S |
probably benign |
Het |
| Mcm3 |
A |
C |
1: 20,875,039 (GRCm39) |
|
probably null |
Het |
| Muc19 |
T |
G |
15: 91,764,901 (GRCm39) |
|
noncoding transcript |
Het |
| Necap2 |
A |
G |
4: 140,794,879 (GRCm39) |
F266S |
probably damaging |
Het |
| Nfil3 |
C |
T |
13: 53,122,055 (GRCm39) |
G283D |
probably damaging |
Het |
| Nlrp4e |
A |
T |
7: 23,021,092 (GRCm39) |
K526N |
possibly damaging |
Het |
| Or4p7 |
T |
A |
2: 88,222,245 (GRCm39) |
V218E |
possibly damaging |
Het |
| Pelp1 |
G |
A |
11: 70,287,720 (GRCm39) |
R401W |
probably damaging |
Het |
| Phldb3 |
G |
T |
7: 24,328,295 (GRCm39) |
C613F |
probably damaging |
Het |
| Ppp1ca |
T |
C |
19: 4,243,110 (GRCm39) |
Y93H |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,851,476 (GRCm39) |
E105G |
probably benign |
Het |
| Prb1a |
G |
T |
6: 132,184,194 (GRCm39) |
Q480K |
unknown |
Het |
| Ryr1 |
A |
T |
7: 28,781,968 (GRCm39) |
I2007N |
probably damaging |
Het |
| Scgb1b27 |
A |
G |
7: 33,721,228 (GRCm39) |
T39A |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,082,187 (GRCm39) |
D359G |
probably benign |
Het |
| Sgo2b |
G |
T |
8: 64,379,557 (GRCm39) |
R1092S |
probably benign |
Het |
| Sh3pxd2b |
C |
A |
11: 32,353,993 (GRCm39) |
S187* |
probably null |
Het |
| Slc11a1 |
T |
A |
1: 74,418,955 (GRCm39) |
L92H |
probably damaging |
Het |
| Smc3 |
T |
C |
19: 53,617,758 (GRCm39) |
V585A |
probably damaging |
Het |
| Sp6 |
A |
G |
11: 96,913,429 (GRCm39) |
|
probably benign |
Het |
| Spata16 |
A |
T |
3: 26,894,871 (GRCm39) |
I307F |
possibly damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,359 (GRCm39) |
H33L |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,912,782 (GRCm39) |
D1642E |
probably damaging |
Het |
| Ttc1 |
T |
C |
11: 43,621,320 (GRCm39) |
N287S |
probably damaging |
Het |
| Ttc9 |
G |
A |
12: 81,678,536 (GRCm39) |
V120I |
possibly damaging |
Het |
| Umps |
A |
G |
16: 33,787,272 (GRCm39) |
V27A |
probably damaging |
Het |
| Usp50 |
C |
A |
2: 126,551,334 (GRCm39) |
M48I |
probably damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,309 (GRCm39) |
C267S |
possibly damaging |
Het |
| Wee1 |
A |
T |
7: 109,725,055 (GRCm39) |
D275V |
possibly damaging |
Het |
| Zmym6 |
C |
T |
4: 126,982,152 (GRCm39) |
P63L |
probably benign |
Het |
|
| Other mutations in Or13a20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4398:Or13a20
|
UTSW |
7 |
140,232,741 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation