Incidental Mutation 'IGL03059:Or1ab2'
| ID |
409366 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or1ab2
|
| Ensembl Gene |
ENSMUSG00000046881 |
| Gene Name |
olfactory receptor family 1 subfamily AB member 2 |
| Synonyms |
MOR130-1, Olfr374, GA_x6K02T2NUPS-241490-242431 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
IGL03059
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
72860884-72864353 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72863842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 144
(L144Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147605
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000209675]
[ENSMUST00000210435]
|
| AlphaFold |
Q7TRY0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055735
AA Change: L144Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054673
Gene: ENSMUSG00000046881
AA Change: L144Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
2.2e-60 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
224 |
1.3e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157835
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209675
AA Change: L144Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210435
AA Change: L144Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210923
|
| 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 |
|---|
| Ahsg |
T |
C |
16: 22,717,755 (GRCm39) |
V244A |
possibly damaging |
Het |
| Aoc1l3 |
A |
T |
6: 48,964,349 (GRCm39) |
Y119F |
probably benign |
Het |
| Ccdc187 |
C |
A |
2: 26,184,253 (GRCm39) |
R48M |
probably null |
Het |
| Cnga2 |
G |
A |
X: 71,051,878 (GRCm39) |
R251H |
probably damaging |
Het |
| Cop1 |
A |
C |
1: 159,134,279 (GRCm39) |
K174Q |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,849,913 (GRCm39) |
D512G |
probably damaging |
Het |
| Flt4 |
G |
A |
11: 49,533,134 (GRCm39) |
A1140T |
probably damaging |
Het |
| Galnt3 |
C |
T |
2: 65,923,954 (GRCm39) |
R438H |
probably damaging |
Het |
| Gatm |
G |
A |
2: 122,440,181 (GRCm39) |
A86V |
probably damaging |
Het |
| Klhl28 |
C |
T |
12: 64,998,340 (GRCm39) |
A385T |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,607,203 (GRCm39) |
V121E |
probably damaging |
Het |
| L1cam |
T |
A |
X: 72,910,630 (GRCm39) |
H30L |
probably benign |
Het |
| Lss |
A |
T |
10: 76,367,860 (GRCm39) |
|
probably benign |
Het |
| Mrnip |
A |
T |
11: 50,090,596 (GRCm39) |
Q253H |
probably damaging |
Het |
| Mroh9 |
A |
T |
1: 162,852,205 (GRCm39) |
F828Y |
possibly damaging |
Het |
| Mst1 |
T |
C |
9: 107,962,012 (GRCm39) |
C668R |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,671,253 (GRCm39) |
E143G |
probably benign |
Het |
| Nap1l4 |
C |
T |
7: 143,080,902 (GRCm39) |
|
probably null |
Het |
| Nme8 |
A |
G |
13: 19,836,414 (GRCm39) |
I254T |
possibly damaging |
Het |
| Or14c41 |
A |
G |
7: 86,234,779 (GRCm39) |
I99V |
probably benign |
Het |
| Or2y12 |
A |
G |
11: 49,426,021 (GRCm39) |
Y3C |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,374,999 (GRCm39) |
L1491F |
probably damaging |
Het |
| Plec |
G |
T |
15: 76,059,968 (GRCm39) |
T3488N |
probably damaging |
Het |
| Plk2 |
T |
G |
13: 110,535,668 (GRCm39) |
S497A |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,913,496 (GRCm39) |
V617I |
probably benign |
Het |
| Prelid3a |
C |
A |
18: 67,609,909 (GRCm39) |
Y112* |
probably null |
Het |
| Rnf113a2 |
C |
A |
12: 84,464,250 (GRCm39) |
S47R |
possibly damaging |
Het |
| Rtel1 |
A |
G |
2: 180,991,976 (GRCm39) |
N410D |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,630,392 (GRCm39) |
A2140T |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,147,354 (GRCm39) |
L336P |
probably benign |
Het |
| Sphkap |
T |
A |
1: 83,234,963 (GRCm39) |
Q1621L |
probably damaging |
Het |
| Trgc1 |
A |
T |
13: 19,400,072 (GRCm39) |
K123* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,739,863 (GRCm39) |
S3559C |
probably benign |
Het |
| Ubr4 |
C |
T |
4: 139,207,987 (GRCm39) |
R4923W |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,437,084 (GRCm39) |
L599P |
probably damaging |
Het |
| Wdr5 |
T |
C |
2: 27,409,746 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or1ab2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03022:Or1ab2
|
APN |
8 |
72,863,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1662:Or1ab2
|
UTSW |
8 |
72,863,623 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1977:Or1ab2
|
UTSW |
8 |
72,863,698 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3965:Or1ab2
|
UTSW |
8 |
72,864,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Or1ab2
|
UTSW |
8 |
72,864,167 (GRCm39) |
nonsense |
probably null |
|
|
R4702:Or1ab2
|
UTSW |
8 |
72,864,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4703:Or1ab2
|
UTSW |
8 |
72,864,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Or1ab2
|
UTSW |
8 |
72,864,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Or1ab2
|
UTSW |
8 |
72,863,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6542:Or1ab2
|
UTSW |
8 |
72,863,715 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6867:Or1ab2
|
UTSW |
8 |
72,863,707 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7094:Or1ab2
|
UTSW |
8 |
72,863,347 (GRCm39) |
intron |
probably benign |
|
|
R7148:Or1ab2
|
UTSW |
8 |
72,864,001 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8162:Or1ab2
|
UTSW |
8 |
72,864,253 (GRCm39) |
missense |
noncoding transcript |
|
|
R8224:Or1ab2
|
UTSW |
8 |
72,864,223 (GRCm39) |
missense |
noncoding transcript |
|
|
R8904:Or1ab2
|
UTSW |
8 |
72,864,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9130:Or1ab2
|
UTSW |
8 |
72,863,697 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation