Incidental Mutation 'IGL03018:Or4p21'
| ID |
407954 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4p21
|
| Ensembl Gene |
ENSMUSG00000075124 |
| Gene Name |
olfactory receptor family 4 subfamily P member 21 |
| Synonyms |
Gm13757, MOR225-16_p, MOR225-7P, GA_x6K02T2Q125-49934557-49933640, Olfr1182, MOR225-8P, MOR225-8P, Olfr1536-ps1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL03018
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
88276363-88279465 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88277163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 40
(N40D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102619]
[ENSMUST00000126038]
[ENSMUST00000179450]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102619
AA Change: N40D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099679
Gene: ENSMUSG00000075125
AA Change: N40D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
34 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
39 |
285 |
7.2e-26 |
PFAM |
|
Pfam:7tm_4
|
137 |
278 |
3.5e-39 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126038
AA Change: N40D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179450
AA Change: N40D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136580
Gene: ENSMUSG00000090097
AA Change: N40D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
26 |
303 |
1.4e-49 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
1.5e-13 |
PFAM |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
A |
5: 8,752,451 (GRCm39) |
V474E |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,203,861 (GRCm39) |
D30E |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,129,031 (GRCm39) |
F394S |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,806,103 (GRCm39) |
F135L |
probably damaging |
Het |
| Elf3 |
C |
T |
1: 135,183,803 (GRCm39) |
E239K |
possibly damaging |
Het |
| Farp1 |
C |
T |
14: 121,339,581 (GRCm39) |
A53V |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,834,717 (GRCm39) |
L400Q |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,318,189 (GRCm39) |
I109F |
possibly damaging |
Het |
| Lat2 |
A |
T |
5: 134,631,445 (GRCm39) |
I191N |
probably damaging |
Het |
| Mtf1 |
G |
A |
4: 124,732,456 (GRCm39) |
A505T |
probably benign |
Het |
| Naa30 |
G |
T |
14: 49,410,697 (GRCm39) |
E208D |
probably benign |
Het |
| Nlrp5 |
T |
C |
7: 23,117,172 (GRCm39) |
Y299H |
probably benign |
Het |
| Npc1 |
T |
A |
18: 12,347,436 (GRCm39) |
N195Y |
probably damaging |
Het |
| Or2f1 |
A |
G |
6: 42,721,748 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or5t16 |
T |
G |
2: 86,819,349 (GRCm39) |
Y57S |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,523 (GRCm39) |
M300T |
probably benign |
Het |
| Or7g19 |
A |
T |
9: 18,856,177 (GRCm39) |
I78F |
probably damaging |
Het |
| Pate12 |
A |
G |
9: 36,344,723 (GRCm39) |
T84A |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 93,253,012 (GRCm39) |
A1217V |
probably null |
Het |
| Pdhb |
C |
T |
14: 8,171,537 (GRCm38) |
|
probably benign |
Het |
| Pknox2 |
A |
G |
9: 36,865,993 (GRCm39) |
Y75H |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,175,563 (GRCm39) |
S748P |
probably damaging |
Het |
| Ranbp6 |
A |
G |
19: 29,788,789 (GRCm39) |
V521A |
probably damaging |
Het |
| Samd7 |
A |
G |
3: 30,816,294 (GRCm39) |
K347E |
probably damaging |
Het |
| Selenom |
A |
G |
11: 3,466,508 (GRCm39) |
D63G |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,501,520 (GRCm39) |
V487A |
possibly damaging |
Het |
| Tapt1 |
A |
T |
5: 44,361,666 (GRCm39) |
M109K |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,526,333 (GRCm39) |
F301S |
probably damaging |
Het |
| Tspyl1 |
T |
C |
10: 34,159,112 (GRCm39) |
V279A |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,264,972 (GRCm39) |
V1184I |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,044 (GRCm39) |
I526V |
probably benign |
Het |
| Vtcn1 |
A |
G |
3: 100,791,226 (GRCm39) |
D88G |
probably damaging |
Het |
| Yod1 |
T |
G |
1: 130,646,695 (GRCm39) |
L191V |
probably benign |
Het |
|
| Other mutations in Or4p21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00984:Or4p21
|
APN |
2 |
88,276,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01986:Or4p21
|
APN |
2 |
88,276,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02416:Or4p21
|
APN |
2 |
88,277,174 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0241:Or4p21
|
UTSW |
2 |
88,276,889 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0241:Or4p21
|
UTSW |
2 |
88,276,889 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0627:Or4p21
|
UTSW |
2 |
88,276,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0634:Or4p21
|
UTSW |
2 |
88,276,961 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1305:Or4p21
|
UTSW |
2 |
88,276,646 (GRCm39) |
nonsense |
probably null |
|
|
R1353:Or4p21
|
UTSW |
2 |
88,276,895 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1765:Or4p21
|
UTSW |
2 |
88,276,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1974:Or4p21
|
UTSW |
2 |
88,276,853 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1990:Or4p21
|
UTSW |
2 |
88,277,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2196:Or4p21
|
UTSW |
2 |
88,277,054 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2974:Or4p21
|
UTSW |
2 |
88,276,918 (GRCm39) |
nonsense |
probably null |
|
|
R4794:Or4p21
|
UTSW |
2 |
88,276,691 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5495:Or4p21
|
UTSW |
2 |
88,276,401 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5771:Or4p21
|
UTSW |
2 |
88,276,652 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6654:Or4p21
|
UTSW |
2 |
88,277,016 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6756:Or4p21
|
UTSW |
2 |
88,277,078 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8070:Or4p21
|
UTSW |
2 |
88,277,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation