Incidental Mutation 'IGL01549:Or4d10c'
ID |
90538 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or4d10c
|
Ensembl Gene |
ENSMUSG00000044994 |
Gene Name |
olfactory receptor family 4 subfamily D member 10C |
Synonyms |
Olfr1426, MOR239-1, GA_x6K02T2RE5P-2447610-2446675 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
IGL01549
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
12064974-12069211 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 12065329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 276
(I276F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151988
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112952]
[ENSMUST00000208703]
[ENSMUST00000217952]
[ENSMUST00000219005]
[ENSMUST00000219155]
[ENSMUST00000219996]
[ENSMUST00000220005]
|
AlphaFold |
Q8VG74 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000112952
AA Change: I276F
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000108575 Gene: ENSMUSG00000044994 AA Change: I276F
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
302 |
2.1e-49 |
PFAM |
Pfam:7tm_1
|
39 |
300 |
1.1e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208703
AA Change: I276F
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217952
AA Change: I276F
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219005
AA Change: I276F
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219155
AA Change: I276F
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219996
AA Change: I276F
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220005
AA Change: I276F
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; 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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503L19Rik |
C |
T |
18: 70,601,106 (GRCm39) |
V259I |
possibly damaging |
Het |
Abhd4 |
C |
T |
14: 54,504,589 (GRCm39) |
T273I |
probably damaging |
Het |
Adamtsl3 |
T |
C |
7: 82,261,656 (GRCm39) |
S1691P |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,495,090 (GRCm39) |
S901P |
probably benign |
Het |
Ank3 |
C |
T |
10: 69,768,250 (GRCm39) |
S56F |
probably damaging |
Het |
Ccdc74a |
A |
G |
16: 17,468,406 (GRCm39) |
S343G |
probably benign |
Het |
Clec7a |
A |
T |
6: 129,449,640 (GRCm39) |
Y3* |
probably null |
Het |
Il6 |
A |
G |
5: 30,224,469 (GRCm39) |
T170A |
probably benign |
Het |
Itgax |
C |
A |
7: 127,730,378 (GRCm39) |
|
probably null |
Het |
Lrrc17 |
A |
T |
5: 21,775,288 (GRCm39) |
R283S |
probably benign |
Het |
Muc1 |
C |
T |
3: 89,139,117 (GRCm39) |
P533S |
probably damaging |
Het |
Or10j5 |
T |
C |
1: 172,784,541 (GRCm39) |
Y60H |
probably damaging |
Het |
Or13n4 |
T |
C |
7: 106,423,236 (GRCm39) |
I166V |
probably benign |
Het |
Or4c121 |
C |
T |
2: 89,024,133 (GRCm39) |
V82I |
probably benign |
Het |
Or8k37 |
A |
C |
2: 86,469,705 (GRCm39) |
S116A |
probably benign |
Het |
Or8k37 |
T |
C |
2: 86,469,876 (GRCm39) |
M59V |
possibly damaging |
Het |
Pcnt |
A |
C |
10: 76,203,320 (GRCm39) |
|
probably null |
Het |
Pde4b |
A |
T |
4: 102,462,265 (GRCm39) |
D647V |
probably damaging |
Het |
Phldb2 |
T |
C |
16: 45,594,681 (GRCm39) |
M875V |
probably benign |
Het |
Prkar2b |
T |
C |
12: 32,111,071 (GRCm39) |
E4G |
possibly damaging |
Het |
Rab2a |
C |
A |
4: 8,582,393 (GRCm39) |
S125Y |
probably benign |
Het |
Samm50 |
A |
G |
15: 84,086,982 (GRCm39) |
I264V |
probably benign |
Het |
Sgsh |
C |
T |
11: 119,241,755 (GRCm39) |
A90T |
probably damaging |
Het |
Tap2 |
A |
G |
17: 34,433,303 (GRCm39) |
T489A |
probably benign |
Het |
Wdr38 |
T |
G |
2: 38,890,730 (GRCm39) |
S201R |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,464,522 (GRCm39) |
D1560G |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,013,181 (GRCm39) |
T568A |
probably damaging |
Het |
|
Other mutations in Or4d10c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Or4d10c
|
APN |
19 |
12,065,357 (GRCm39) |
missense |
probably benign |
0.28 |
IGL02479:Or4d10c
|
APN |
19 |
12,065,269 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03065:Or4d10c
|
APN |
19 |
12,065,975 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03092:Or4d10c
|
APN |
19 |
12,065,230 (GRCm39) |
nonsense |
probably null |
|
IGL03046:Or4d10c
|
UTSW |
19 |
12,065,391 (GRCm39) |
missense |
probably damaging |
0.98 |
R0734:Or4d10c
|
UTSW |
19 |
12,065,483 (GRCm39) |
missense |
probably benign |
0.12 |
R1190:Or4d10c
|
UTSW |
19 |
12,066,051 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1990:Or4d10c
|
UTSW |
19 |
12,065,620 (GRCm39) |
missense |
probably damaging |
0.98 |
R2331:Or4d10c
|
UTSW |
19 |
12,065,522 (GRCm39) |
missense |
probably benign |
0.00 |
R3500:Or4d10c
|
UTSW |
19 |
12,065,421 (GRCm39) |
missense |
possibly damaging |
0.58 |
R3768:Or4d10c
|
UTSW |
19 |
12,065,304 (GRCm39) |
missense |
probably damaging |
1.00 |
R3825:Or4d10c
|
UTSW |
19 |
12,065,391 (GRCm39) |
missense |
probably damaging |
0.98 |
R4589:Or4d10c
|
UTSW |
19 |
12,065,305 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5175:Or4d10c
|
UTSW |
19 |
12,065,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R6436:Or4d10c
|
UTSW |
19 |
12,065,299 (GRCm39) |
missense |
probably benign |
0.24 |
R6729:Or4d10c
|
UTSW |
19 |
12,065,860 (GRCm39) |
missense |
probably benign |
0.04 |
R6965:Or4d10c
|
UTSW |
19 |
12,066,120 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7099:Or4d10c
|
UTSW |
19 |
12,065,530 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7393:Or4d10c
|
UTSW |
19 |
12,065,992 (GRCm39) |
missense |
probably benign |
0.13 |
R7582:Or4d10c
|
UTSW |
19 |
12,065,370 (GRCm39) |
missense |
probably benign |
0.01 |
R8000:Or4d10c
|
UTSW |
19 |
12,065,358 (GRCm39) |
missense |
probably damaging |
0.98 |
R8803:Or4d10c
|
UTSW |
19 |
12,065,469 (GRCm39) |
missense |
probably benign |
0.07 |
R8833:Or4d10c
|
UTSW |
19 |
12,065,643 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8846:Or4d10c
|
UTSW |
19 |
12,065,433 (GRCm39) |
missense |
probably damaging |
0.96 |
R8951:Or4d10c
|
UTSW |
19 |
12,066,056 (GRCm39) |
nonsense |
probably null |
|
R9469:Or4d10c
|
UTSW |
19 |
12,065,434 (GRCm39) |
missense |
probably benign |
0.20 |
RF011:Or4d10c
|
UTSW |
19 |
12,065,611 (GRCm39) |
missense |
probably benign |
0.09 |
Z1177:Or4d10c
|
UTSW |
19 |
12,065,308 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2013-12-09 |