Incidental Mutation 'IGL02015:Or10ab5'
| ID |
183714 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10ab5
|
| Ensembl Gene |
ENSMUSG00000049280 |
| Gene Name |
olfactory receptor family 10 subfamily AB member 5 |
| Synonyms |
GA_x6K02T2PBJ9-10976304-10975339, Olfr509, MOR267-14 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
IGL02015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
108244816-108245781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108245220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 188
(N188Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061690]
[ENSMUST00000213756]
[ENSMUST00000214861]
[ENSMUST00000215075]
|
| AlphaFold |
Q8VF20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061690
AA Change: N188Y
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000053819
Gene: ENSMUSG00000049280
AA Change: N188Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
305 |
1.8e-42 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.5e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213756
AA Change: N188Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214861
AA Change: N188Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215075
AA Change: N188Y
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl9l |
C |
A |
9: 44,420,098 (GRCm39) |
|
probably null |
Het |
| C1qtnf12 |
A |
G |
4: 156,047,201 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,060,749 (GRCm39) |
Y1382H |
probably damaging |
Het |
| Fut1 |
A |
T |
7: 45,268,399 (GRCm39) |
M118L |
probably damaging |
Het |
| Fzd5 |
A |
T |
1: 64,775,501 (GRCm39) |
C87S |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,684,439 (GRCm39) |
V361A |
possibly damaging |
Het |
| Inpp4a |
T |
G |
1: 37,428,793 (GRCm39) |
F700V |
probably damaging |
Het |
| Klk1b21 |
A |
T |
7: 43,753,782 (GRCm39) |
Q22L |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,357,922 (GRCm39) |
Q369L |
probably benign |
Het |
| Mtor |
C |
T |
4: 148,624,570 (GRCm39) |
Q2117* |
probably null |
Het |
| Naip2 |
A |
T |
13: 100,298,115 (GRCm39) |
S640R |
possibly damaging |
Het |
| Nt5e |
T |
C |
9: 88,249,290 (GRCm39) |
I408T |
probably damaging |
Het |
| Or51h5 |
G |
A |
7: 102,577,399 (GRCm39) |
R188H |
probably benign |
Het |
| Or8d2 |
T |
C |
9: 38,760,090 (GRCm39) |
S227P |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,319,433 (GRCm39) |
L590P |
probably damaging |
Het |
| Ppp1r35 |
T |
C |
5: 137,778,293 (GRCm39) |
|
probably benign |
Het |
| Prmt2 |
G |
A |
10: 76,062,089 (GRCm39) |
Q39* |
probably null |
Het |
| Ptprg |
A |
T |
14: 12,237,782 (GRCm38) |
N1413I |
possibly damaging |
Het |
| Ranbp10 |
C |
A |
8: 106,506,622 (GRCm39) |
G233C |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,999,371 (GRCm39) |
|
probably benign |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Scaf4 |
T |
C |
16: 90,055,734 (GRCm39) |
S108G |
unknown |
Het |
| Scn10a |
C |
T |
9: 119,494,017 (GRCm39) |
V430M |
probably benign |
Het |
| Sf3b3 |
T |
C |
8: 111,542,922 (GRCm39) |
E845G |
possibly damaging |
Het |
| Skint2 |
C |
T |
4: 112,481,325 (GRCm39) |
R63* |
probably null |
Het |
| Slc35b4 |
A |
T |
6: 34,147,483 (GRCm39) |
V35D |
probably damaging |
Het |
| Slc6a3 |
A |
T |
13: 73,692,833 (GRCm39) |
Y151F |
possibly damaging |
Het |
| Susd1 |
G |
A |
4: 59,315,745 (GRCm39) |
T689I |
possibly damaging |
Het |
| Tbx21 |
T |
C |
11: 96,989,740 (GRCm39) |
D484G |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,268,721 (GRCm39) |
|
probably benign |
Het |
| Traf3 |
A |
G |
12: 111,219,174 (GRCm39) |
N242S |
probably benign |
Het |
| Tut7 |
A |
G |
13: 59,937,072 (GRCm39) |
Y790H |
probably damaging |
Het |
| Xiap |
T |
A |
X: 41,185,487 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or10ab5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Or10ab5
|
APN |
7 |
108,245,043 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL02721:Or10ab5
|
APN |
7 |
108,245,582 (GRCm39) |
nonsense |
probably null |
|
|
IGL03170:Or10ab5
|
APN |
7 |
108,245,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0746:Or10ab5
|
UTSW |
7 |
108,245,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0863:Or10ab5
|
UTSW |
7 |
108,244,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1791:Or10ab5
|
UTSW |
7 |
108,245,571 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4128:Or10ab5
|
UTSW |
7 |
108,245,633 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5290:Or10ab5
|
UTSW |
7 |
108,245,755 (GRCm39) |
missense |
probably benign |
|
|
R5878:Or10ab5
|
UTSW |
7 |
108,244,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Or10ab5
|
UTSW |
7 |
108,245,433 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6030:Or10ab5
|
UTSW |
7 |
108,245,433 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6545:Or10ab5
|
UTSW |
7 |
108,245,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7699:Or10ab5
|
UTSW |
7 |
108,244,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7700:Or10ab5
|
UTSW |
7 |
108,244,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8247:Or10ab5
|
UTSW |
7 |
108,245,370 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9021:Or10ab5
|
UTSW |
7 |
108,245,428 (GRCm39) |
nonsense |
probably null |
|
|
R9041:Or10ab5
|
UTSW |
7 |
108,245,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or10ab5
|
UTSW |
7 |
108,244,974 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2014-05-07 |
Incidental Mutation