Incidental Mutation 'IGL01795:Or6p1'
| ID |
155311 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6p1
|
| Ensembl Gene |
ENSMUSG00000051509 |
| Gene Name |
olfactory receptor family 6 subfamily P member 1 |
| Synonyms |
MOR103-10, Olfr414, GA_x6K02T2P20D-20749615-20748662 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
IGL01795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
174257996-174258950 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 174258215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 74
(I74F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053178]
[ENSMUST00000192358]
|
| AlphaFold |
E9Q5P8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053178
AA Change: I74F
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000052426
Gene: ENSMUSG00000051509
AA Change: I74F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.8e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
8.3e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000192358
AA Change: I74F
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142051
Gene: ENSMUSG00000051509
AA Change: I74F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
290 |
2.9e-29 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
1.1e-45 |
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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,895,093 (GRCm39) |
R263* |
probably null |
Het |
| Arfgef1 |
A |
T |
1: 10,217,753 (GRCm39) |
I1562K |
probably benign |
Het |
| B4galt1 |
T |
A |
4: 40,807,760 (GRCm39) |
D347V |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,152,175 (GRCm39) |
R646S |
probably benign |
Het |
| Ccr1 |
A |
T |
9: 123,764,149 (GRCm39) |
L127* |
probably null |
Het |
| Cd109 |
A |
G |
9: 78,569,047 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,803,294 (GRCm39) |
V2128A |
probably benign |
Het |
| Chil6 |
T |
A |
3: 106,296,108 (GRCm39) |
I376F |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,076,167 (GRCm39) |
S275P |
probably damaging |
Het |
| Dnaaf8 |
T |
G |
16: 4,791,935 (GRCm39) |
|
noncoding transcript |
Het |
| Erap1 |
T |
A |
13: 74,814,209 (GRCm39) |
|
probably null |
Het |
| F5 |
T |
C |
1: 164,021,959 (GRCm39) |
V1478A |
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,925,904 (GRCm39) |
V3703F |
probably damaging |
Het |
| Hmmr |
C |
T |
11: 40,612,561 (GRCm39) |
M185I |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,403,733 (GRCm39) |
Y8C |
probably damaging |
Het |
| Krt16 |
A |
G |
11: 100,138,550 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
A |
G |
8: 13,050,749 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
C |
T |
1: 127,396,968 (GRCm39) |
R572W |
probably damaging |
Het |
| Neil2 |
T |
C |
14: 63,426,199 (GRCm39) |
D57G |
probably benign |
Het |
| Nom1 |
A |
G |
5: 29,651,869 (GRCm39) |
T736A |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,584,731 (GRCm39) |
M46L |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,814,478 (GRCm39) |
I98N |
probably damaging |
Het |
| Prr14l |
A |
T |
5: 32,989,189 (GRCm39) |
|
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,755,308 (GRCm39) |
S1224P |
probably benign |
Het |
| Slc44a2 |
A |
C |
9: 21,256,645 (GRCm39) |
K336Q |
probably damaging |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
C |
T |
2: 29,908,501 (GRCm39) |
T1754I |
probably benign |
Het |
| Zdhhc5 |
T |
C |
2: 84,520,390 (GRCm39) |
S596G |
probably benign |
Het |
|
| Other mutations in Or6p1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01018:Or6p1
|
APN |
1 |
174,258,908 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01560:Or6p1
|
APN |
1 |
174,258,467 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL03286:Or6p1
|
APN |
1 |
174,258,743 (GRCm39) |
missense |
probably benign |
0.01 |
|
PIT4131001:Or6p1
|
UTSW |
1 |
174,258,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0219:Or6p1
|
UTSW |
1 |
174,258,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0492:Or6p1
|
UTSW |
1 |
174,258,129 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1052:Or6p1
|
UTSW |
1 |
174,258,701 (GRCm39) |
nonsense |
probably null |
|
|
R1054:Or6p1
|
UTSW |
1 |
174,258,419 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1473:Or6p1
|
UTSW |
1 |
174,258,209 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1675:Or6p1
|
UTSW |
1 |
174,258,663 (GRCm39) |
missense |
probably benign |
|
|
R1774:Or6p1
|
UTSW |
1 |
174,258,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1861:Or6p1
|
UTSW |
1 |
174,258,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Or6p1
|
UTSW |
1 |
174,258,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Or6p1
|
UTSW |
1 |
174,258,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Or6p1
|
UTSW |
1 |
174,258,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5020:Or6p1
|
UTSW |
1 |
174,258,237 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5354:Or6p1
|
UTSW |
1 |
174,258,252 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5873:Or6p1
|
UTSW |
1 |
174,258,348 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6053:Or6p1
|
UTSW |
1 |
174,258,135 (GRCm39) |
nonsense |
probably null |
|
|
R8300:Or6p1
|
UTSW |
1 |
174,258,100 (GRCm39) |
nonsense |
probably null |
|
|
R9105:Or6p1
|
UTSW |
1 |
174,258,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9716:Or6p1
|
UTSW |
1 |
174,258,641 (GRCm39) |
missense |
probably benign |
0.21 |
|
Z1176:Or6p1
|
UTSW |
1 |
174,258,157 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Posted On |
2014-02-04 |
Incidental Mutation