Incidental Mutation 'IGL02209:Or51i2'
| ID |
284617 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51i2
|
| Ensembl Gene |
ENSMUSG00000073932 |
| Gene Name |
olfactory receptor family 51 subfamily I member 2 |
| Synonyms |
Olfr641, MOR13-3, GA_x6K02T2PBJ9-6773690-6774628 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
IGL02209
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103689005-103689943 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 103689663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 220
(L220R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098183]
[ENSMUST00000138055]
[ENSMUST00000213214]
|
| AlphaFold |
Q8VGX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098183
AA Change: L220R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095785
Gene: ENSMUSG00000073932
AA Change: L220R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
310 |
2.5e-118 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
307 |
7e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
292 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138055
|
| SMART Domains |
Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213214
AA Change: L220R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213904
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
C |
T |
17: 36,274,901 (GRCm39) |
R82Q |
probably damaging |
Het |
| Acmsd |
A |
G |
1: 127,687,492 (GRCm39) |
Y258C |
probably damaging |
Het |
| Anapc5 |
A |
G |
5: 122,938,676 (GRCm39) |
I366T |
possibly damaging |
Het |
| Crkl |
C |
T |
16: 17,287,098 (GRCm39) |
T218I |
probably benign |
Het |
| Egf |
A |
T |
3: 129,500,956 (GRCm39) |
I213K |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,360,491 (GRCm39) |
T33A |
probably benign |
Het |
| Garnl3 |
T |
C |
2: 32,975,942 (GRCm39) |
D93G |
probably damaging |
Het |
| Hook3 |
C |
T |
8: 26,560,293 (GRCm39) |
D311N |
probably damaging |
Het |
| Iglv3 |
T |
C |
16: 19,060,420 (GRCm39) |
T4A |
probably benign |
Het |
| Kctd17 |
A |
G |
15: 78,319,792 (GRCm39) |
N70S |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,752,448 (GRCm39) |
|
probably benign |
Het |
| Lrif1 |
A |
C |
3: 106,639,045 (GRCm39) |
L18F |
probably damaging |
Het |
| Mfsd1 |
A |
G |
3: 67,505,465 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
A |
G |
3: 153,594,499 (GRCm39) |
Y101H |
probably damaging |
Het |
| Mycbpap |
G |
A |
11: 94,400,708 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,439,027 (GRCm39) |
D183G |
probably benign |
Het |
| Nppc |
T |
C |
1: 86,597,387 (GRCm39) |
*127W |
probably null |
Het |
| Or10al3 |
G |
A |
17: 38,011,883 (GRCm39) |
M107I |
probably damaging |
Het |
| Or1ak2 |
C |
T |
2: 36,827,517 (GRCm39) |
P129S |
probably damaging |
Het |
| Or2n1e |
A |
G |
17: 38,586,123 (GRCm39) |
I154V |
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,342 (GRCm39) |
K146E |
possibly damaging |
Het |
| Pde5a |
A |
G |
3: 122,618,664 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,365,296 (GRCm39) |
V1139A |
probably damaging |
Het |
| Pwwp2b |
G |
A |
7: 138,835,021 (GRCm39) |
R154Q |
probably damaging |
Het |
| Satb2 |
C |
T |
1: 56,910,677 (GRCm39) |
V264I |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,720,688 (GRCm39) |
F435Y |
probably benign |
Het |
| Stmn2 |
T |
C |
3: 8,625,321 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
G |
16: 90,784,307 (GRCm39) |
I277T |
probably damaging |
Het |
| Trio |
C |
T |
15: 27,744,139 (GRCm39) |
A2598T |
probably damaging |
Het |
| Tshz2 |
G |
A |
2: 169,726,684 (GRCm39) |
V427M |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,559,039 (GRCm39) |
S1405P |
probably damaging |
Het |
| Vmn1r173 |
G |
A |
7: 23,402,586 (GRCm39) |
V274I |
probably benign |
Het |
| Vmn2r116 |
T |
C |
17: 23,607,761 (GRCm39) |
F443S |
probably damaging |
Het |
| Vps13d |
C |
A |
4: 144,882,671 (GRCm39) |
R974L |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,399,218 (GRCm39) |
S96T |
possibly damaging |
Het |
| Zfp516 |
A |
G |
18: 83,012,622 (GRCm39) |
D1125G |
probably benign |
Het |
| Zfp692 |
C |
T |
11: 58,204,824 (GRCm39) |
R395* |
probably null |
Het |
|
| Other mutations in Or51i2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Or51i2
|
APN |
7 |
103,689,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01515:Or51i2
|
APN |
7 |
103,689,183 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01940:Or51i2
|
APN |
7 |
103,689,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02486:Or51i2
|
APN |
7 |
103,689,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2075:Or51i2
|
UTSW |
7 |
103,689,180 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4110:Or51i2
|
UTSW |
7 |
103,689,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7786:Or51i2
|
UTSW |
7 |
103,689,930 (GRCm39) |
missense |
unknown |
|
|
R8133:Or51i2
|
UTSW |
7 |
103,689,122 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9192:Or51i2
|
UTSW |
7 |
103,689,875 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9195:Or51i2
|
UTSW |
7 |
103,689,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9328:Or51i2
|
UTSW |
7 |
103,689,268 (GRCm39) |
missense |
|
|
|
R9375:Or51i2
|
UTSW |
7 |
103,689,273 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9396:Or51i2
|
UTSW |
7 |
103,689,720 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9525:Or51i2
|
UTSW |
7 |
103,689,820 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9622:Or51i2
|
UTSW |
7 |
103,689,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or51i2
|
UTSW |
7 |
103,688,934 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation