Incidental Mutation 'R4386:Or5p81'
| ID |
326228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5p81
|
| Ensembl Gene |
ENSMUSG00000096209 |
| Gene Name |
olfactory receptor family 5 subfamily P member 81 |
| Synonyms |
MOR204-34, GA_x6K02T2PBJ9-10997715-10998659, Olfr510 |
| MMRRC Submission |
041680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R4386 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
108265625-108267569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108267460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 279
(V279E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149693
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076289]
[ENSMUST00000213979]
[ENSMUST00000216331]
[ENSMUST00000217170]
|
| AlphaFold |
Q8VEW6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076289
AA Change: V279E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000075637
Gene: ENSMUSG00000096209
AA Change: V279E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
311 |
3e-50 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
4e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210621
AA Change: V279E
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213979
AA Change: V279E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216331
AA Change: V279E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217170
AA Change: V279E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.6754 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,379,982 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
G |
T |
7: 119,373,094 (GRCm39) |
W199L |
probably damaging |
Het |
| Arap1 |
T |
A |
7: 101,034,778 (GRCm39) |
D236E |
probably benign |
Het |
| Arhgap1 |
T |
C |
2: 91,498,582 (GRCm39) |
Y160H |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,045,247 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,718,801 (GRCm39) |
E334G |
probably damaging |
Het |
| Ciz1 |
C |
T |
2: 32,260,111 (GRCm39) |
T219M |
possibly damaging |
Het |
| Cluap1 |
A |
C |
16: 3,751,586 (GRCm39) |
D315A |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,210,154 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,434,856 (GRCm39) |
S668P |
probably damaging |
Het |
| Fah |
T |
A |
7: 84,248,344 (GRCm39) |
T125S |
probably damaging |
Het |
| Fam221a |
G |
A |
6: 49,355,366 (GRCm39) |
C156Y |
probably damaging |
Het |
| Gm6158 |
G |
T |
14: 24,120,362 (GRCm39) |
|
noncoding transcript |
Het |
| Hbq1b |
T |
A |
11: 32,237,295 (GRCm39) |
V63E |
probably damaging |
Het |
| Ighv6-5 |
G |
A |
12: 114,380,337 (GRCm39) |
T79I |
possibly damaging |
Het |
| Kif12 |
G |
A |
4: 63,089,455 (GRCm39) |
T99M |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,996,272 (GRCm39) |
K298M |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,080,707 (GRCm39) |
Q1245R |
probably benign |
Het |
| Marchf4 |
G |
A |
1: 72,467,973 (GRCm39) |
P353L |
probably benign |
Het |
| Nadk |
A |
T |
4: 155,667,032 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,247,389 (GRCm39) |
T345A |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,060,155 (GRCm39) |
|
probably benign |
Het |
| Nsun6 |
T |
A |
2: 15,001,333 (GRCm39) |
M408L |
probably benign |
Het |
| Nuak1 |
T |
A |
10: 84,229,908 (GRCm39) |
E155V |
probably damaging |
Het |
| Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,836,124 (GRCm39) |
R122H |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,842 (GRCm39) |
Y253N |
probably damaging |
Het |
| Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pabpc2 |
T |
C |
18: 39,908,238 (GRCm39) |
V501A |
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,953,334 (GRCm39) |
V1187A |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,484,516 (GRCm39) |
V2013A |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,055,914 (GRCm39) |
S759T |
possibly damaging |
Het |
| Scgb1b2 |
T |
A |
7: 30,990,089 (GRCm39) |
K86N |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,080,381 (GRCm39) |
I1291T |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,341,090 (GRCm39) |
Y1396C |
probably benign |
Het |
| Slc24a3 |
A |
G |
2: 145,448,746 (GRCm39) |
E380G |
probably benign |
Het |
| Spock1 |
A |
G |
13: 57,588,263 (GRCm39) |
S270P |
probably damaging |
Het |
| Tmem128 |
T |
C |
5: 38,419,418 (GRCm39) |
S57P |
probably damaging |
Het |
| Tmem186 |
G |
A |
16: 8,453,887 (GRCm39) |
R125W |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,882,758 (GRCm39) |
S220P |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,830,505 (GRCm39) |
|
probably null |
Het |
| Usp5 |
C |
T |
6: 124,795,437 (GRCm39) |
|
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,573 (GRCm39) |
C32* |
probably null |
Het |
| Vmn2r112 |
T |
A |
17: 22,820,303 (GRCm39) |
F59I |
probably benign |
Het |
| Wfdc9 |
A |
T |
2: 164,492,458 (GRCm39) |
S56R |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,806 (GRCm39) |
I650V |
probably benign |
Het |
|
| Other mutations in Or5p81 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00909:Or5p81
|
APN |
7 |
108,266,907 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL00952:Or5p81
|
APN |
7 |
108,267,445 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01358:Or5p81
|
APN |
7 |
108,266,869 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01663:Or5p81
|
APN |
7 |
108,267,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02686:Or5p81
|
APN |
7 |
108,267,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4466001:Or5p81
|
UTSW |
7 |
108,266,743 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0095:Or5p81
|
UTSW |
7 |
108,267,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0095:Or5p81
|
UTSW |
7 |
108,267,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0792:Or5p81
|
UTSW |
7 |
108,267,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0925:Or5p81
|
UTSW |
7 |
108,267,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1829:Or5p81
|
UTSW |
7 |
108,266,851 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2092:Or5p81
|
UTSW |
7 |
108,266,869 (GRCm39) |
frame shift |
probably null |
|
|
R2483:Or5p81
|
UTSW |
7 |
108,266,869 (GRCm39) |
frame shift |
probably null |
|
|
R3619:Or5p81
|
UTSW |
7 |
108,267,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5298:Or5p81
|
UTSW |
7 |
108,267,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5622:Or5p81
|
UTSW |
7 |
108,267,289 (GRCm39) |
missense |
probably benign |
|
|
R6079:Or5p81
|
UTSW |
7 |
108,267,412 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6138:Or5p81
|
UTSW |
7 |
108,267,412 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8359:Or5p81
|
UTSW |
7 |
108,267,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8848:Or5p81
|
UTSW |
7 |
108,266,929 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8994:Or5p81
|
UTSW |
7 |
108,267,169 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9360:Or5p81
|
UTSW |
7 |
108,266,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9439:Or5p81
|
UTSW |
7 |
108,266,626 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
R9641:Or5p81
|
UTSW |
7 |
108,267,516 (GRCm39) |
missense |
probably damaging |
0.98 |
|
U15987:Or5p81
|
UTSW |
7 |
108,267,412 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Or5p81
|
UTSW |
7 |
108,267,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTCCTGTTCTGATAATAGTGTC -3'
(R):5'- CCAGGATCTTGCCAATTATACATGAC -3'
Sequencing Primer
(F):5'- CTGGCACTATTATTGTAATCACAGTG -3'
(R):5'- TGTAACATGAAATTTGAACCCCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation