Incidental Mutation 'IGL01467:Or2m13'
| ID |
88130 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2m13
|
| Ensembl Gene |
ENSMUSG00000050158 |
| Gene Name |
olfactory receptor family 2 subfamily M member 13 |
| Synonyms |
Olfr165, MOR279-1, GA_x54KRFPKG5P-15855164-15854223 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01467
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
19224994-19241884 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19226539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 77
(T77A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052516]
[ENSMUST00000206110]
[ENSMUST00000206410]
|
| AlphaFold |
Q8VFA2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052516
AA Change: T76A
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000062079
Gene: ENSMUSG00000050158
AA Change: T76A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
309 |
5.6e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
306 |
6e-10 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
4e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000103984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206110
AA Change: T76A
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206410
AA Change: T77A
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1a |
A |
G |
5: 121,657,791 (GRCm39) |
C501R |
probably damaging |
Het |
| Atxn1 |
C |
T |
13: 45,720,669 (GRCm39) |
V409I |
probably damaging |
Het |
| Cdkn2aip |
T |
C |
8: 48,164,247 (GRCm39) |
R489G |
probably damaging |
Het |
| Cgn |
A |
G |
3: 94,686,898 (GRCm39) |
S135P |
probably damaging |
Het |
| Cpne3 |
C |
A |
4: 19,553,737 (GRCm39) |
C98F |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 44,003,512 (GRCm39) |
N221S |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,998,890 (GRCm39) |
N3525S |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,019,597 (GRCm39) |
E560G |
probably damaging |
Het |
| Eif2b5 |
C |
A |
16: 20,327,714 (GRCm39) |
C154* |
probably null |
Het |
| Eps8l2 |
A |
G |
7: 140,941,514 (GRCm39) |
E595G |
probably damaging |
Het |
| Gm9839 |
A |
T |
1: 32,559,032 (GRCm39) |
I350N |
probably damaging |
Het |
| Hdlbp |
A |
T |
1: 93,345,420 (GRCm39) |
|
probably benign |
Het |
| Il18rap |
A |
T |
1: 40,587,799 (GRCm39) |
I466F |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,465,457 (GRCm39) |
I2123N |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,715,352 (GRCm39) |
I58T |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,374,435 (GRCm39) |
S899P |
probably damaging |
Het |
| Mmp15 |
T |
A |
8: 96,092,959 (GRCm39) |
F113I |
probably benign |
Het |
| Neb |
T |
C |
2: 52,049,499 (GRCm39) |
H6448R |
possibly damaging |
Het |
| Or1j12 |
C |
T |
2: 36,342,656 (GRCm39) |
R20* |
probably null |
Het |
| Pdgfc |
A |
G |
3: 81,116,398 (GRCm39) |
T251A |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,346,292 (GRCm39) |
|
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,307,144 (GRCm39) |
S269P |
probably damaging |
Het |
| Pip4k2c |
A |
T |
10: 127,035,498 (GRCm39) |
F347L |
probably benign |
Het |
| Platr26 |
T |
C |
2: 71,553,656 (GRCm39) |
|
noncoding transcript |
Het |
| Pnisr |
C |
T |
4: 21,874,650 (GRCm39) |
|
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,986 (GRCm39) |
|
noncoding transcript |
Het |
| Rab3gap1 |
T |
A |
1: 127,858,121 (GRCm39) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,487,478 (GRCm39) |
V619I |
probably benign |
Het |
| Slc38a11 |
T |
A |
2: 65,147,200 (GRCm39) |
T426S |
probably benign |
Het |
| Son |
T |
C |
16: 91,454,165 (GRCm39) |
S971P |
possibly damaging |
Het |
| Stk33 |
T |
A |
7: 108,928,796 (GRCm39) |
I239L |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tmem270 |
G |
T |
5: 134,930,815 (GRCm39) |
|
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Zfp750 |
A |
T |
11: 121,403,767 (GRCm39) |
C369* |
probably null |
Het |
|
| Other mutations in Or2m13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01353:Or2m13
|
APN |
16 |
19,226,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01355:Or2m13
|
APN |
16 |
19,226,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01363:Or2m13
|
APN |
16 |
19,226,333 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02267:Or2m13
|
APN |
16 |
19,225,914 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1194:Or2m13
|
UTSW |
16 |
19,225,930 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1624:Or2m13
|
UTSW |
16 |
19,226,454 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2248:Or2m13
|
UTSW |
16 |
19,225,944 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4865:Or2m13
|
UTSW |
16 |
19,226,051 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4988:Or2m13
|
UTSW |
16 |
19,225,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5384:Or2m13
|
UTSW |
16 |
19,226,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Or2m13
|
UTSW |
16 |
19,225,975 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5997:Or2m13
|
UTSW |
16 |
19,226,694 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6301:Or2m13
|
UTSW |
16 |
19,226,167 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6570:Or2m13
|
UTSW |
16 |
19,226,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6703:Or2m13
|
UTSW |
16 |
19,226,122 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6953:Or2m13
|
UTSW |
16 |
19,226,278 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7424:Or2m13
|
UTSW |
16 |
19,225,944 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7975:Or2m13
|
UTSW |
16 |
19,226,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Or2m13
|
UTSW |
16 |
19,225,987 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8880:Or2m13
|
UTSW |
16 |
19,226,396 (GRCm39) |
nonsense |
probably null |
|
|
R9008:Or2m13
|
UTSW |
16 |
19,226,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9394:Or2m13
|
UTSW |
16 |
19,226,019 (GRCm39) |
missense |
probably benign |
|
|
R9698:Or2m13
|
UTSW |
16 |
19,226,342 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Or2m13
|
UTSW |
16 |
19,226,485 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation