Incidental Mutation 'R6663:Or4p20'
| ID |
526862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4p20
|
| Ensembl Gene |
ENSMUSG00000075125 |
| Gene Name |
olfactory receptor family 4 subfamily P member 20 |
| Synonyms |
Olfr1181, GA_x6K02T2Q125-49911636-49910701, MOR225-9P |
| MMRRC Submission |
044783-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6663 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
88253432-88254367 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88253694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 225
(N225I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099823]
[ENSMUST00000102619]
[ENSMUST00000213190]
[ENSMUST00000216121]
[ENSMUST00000217320]
|
| AlphaFold |
Q7TR18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099823
AA Change: N225I
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000097411
Gene: ENSMUSG00000075125
AA Change: N225I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
303 |
1.5e-48 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
6.9e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102619
AA Change: N225I
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099679
Gene: ENSMUSG00000075125
AA Change: N225I
| 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 benign
Transcript: ENSMUST00000213190
AA Change: N225I
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217320
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (32/32) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
A |
G |
5: 90,411,923 (GRCm39) |
S1314P |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,121,003 (GRCm39) |
I59K |
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,521,995 (GRCm39) |
*865R |
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,691,908 (GRCm39) |
Q749R |
unknown |
Het |
| Cpsf2 |
T |
C |
12: 101,965,852 (GRCm39) |
Y606H |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,823,599 (GRCm39) |
V154A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,514,701 (GRCm39) |
E23V |
probably damaging |
Het |
| Cyp2j9 |
C |
A |
4: 96,467,679 (GRCm39) |
W269L |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,453,184 (GRCm39) |
M273V |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,334,899 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
A |
G |
6: 23,247,527 (GRCm39) |
S183P |
probably damaging |
Het |
| Irx2 |
A |
G |
13: 72,777,248 (GRCm39) |
Y23C |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,110,641 (GRCm39) |
N983K |
probably benign |
Het |
| Kifc1 |
A |
G |
17: 34,100,430 (GRCm39) |
|
probably benign |
Het |
| Lrrc14b |
T |
C |
13: 74,509,480 (GRCm39) |
N309S |
probably damaging |
Het |
| Lyst |
A |
T |
13: 13,838,701 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
C |
13: 99,566,530 (GRCm39) |
T2064A |
unknown |
Het |
| Mark3 |
T |
A |
12: 111,541,517 (GRCm39) |
N11K |
probably benign |
Het |
| Med6 |
T |
A |
12: 81,628,649 (GRCm39) |
D80V |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,272 (GRCm39) |
E249G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,977,417 (GRCm39) |
I1256M |
probably benign |
Het |
| Nkx2-9 |
G |
T |
12: 56,658,723 (GRCm39) |
R164S |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,179,774 (GRCm39) |
D33G |
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,523,016 (GRCm39) |
M719V |
probably damaging |
Het |
| Pln |
A |
G |
10: 53,219,792 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
G |
A |
1: 150,330,852 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,138,112 (GRCm39) |
L99P |
probably damaging |
Het |
| Tbccd1 |
AT |
ATGT |
16: 22,652,778 (GRCm39) |
|
probably null |
Het |
| Ube2j1 |
C |
T |
4: 33,045,198 (GRCm39) |
S157L |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,008,933 (GRCm39) |
T300A |
possibly damaging |
Het |
| Zfp668 |
G |
A |
7: 127,466,941 (GRCm39) |
R212C |
probably damaging |
Het |
| Zup1 |
A |
G |
10: 33,825,431 (GRCm39) |
M17T |
possibly damaging |
Het |
|
| Other mutations in Or4p20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Or4p20
|
APN |
2 |
88,254,130 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02224:Or4p20
|
APN |
2 |
88,254,052 (GRCm39) |
splice site |
probably null |
|
|
IGL03293:Or4p20
|
APN |
2 |
88,253,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02802:Or4p20
|
UTSW |
2 |
88,253,832 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2214:Or4p20
|
UTSW |
2 |
88,253,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2508:Or4p20
|
UTSW |
2 |
88,253,800 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4050:Or4p20
|
UTSW |
2 |
88,253,967 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5404:Or4p20
|
UTSW |
2 |
88,254,145 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5727:Or4p20
|
UTSW |
2 |
88,253,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6578:Or4p20
|
UTSW |
2 |
88,253,488 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6974:Or4p20
|
UTSW |
2 |
88,254,156 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7042:Or4p20
|
UTSW |
2 |
88,253,746 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7659:Or4p20
|
UTSW |
2 |
88,254,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Or4p20
|
UTSW |
2 |
88,253,745 (GRCm39) |
missense |
probably benign |
|
|
R8470:Or4p20
|
UTSW |
2 |
88,254,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9479:Or4p20
|
UTSW |
2 |
88,253,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9546:Or4p20
|
UTSW |
2 |
88,254,049 (GRCm39) |
missense |
probably benign |
|
|
R9706:Or4p20
|
UTSW |
2 |
88,253,779 (GRCm39) |
missense |
probably benign |
|
|
R9735:Or4p20
|
UTSW |
2 |
88,253,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Or4p20
|
UTSW |
2 |
88,254,006 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Or4p20
|
UTSW |
2 |
88,254,159 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCAAACCTTCTTTATGGCAC -3'
(R):5'- TGTGGACCCAATGAAATAGACC -3'
Sequencing Primer
(F):5'- TATATATGAGGGGGTTGAACATAGG -3'
(R):5'- TGAAATAGACCACTACTACTGTGACG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation