Incidental Mutation 'R1352:Or51v8'
| ID |
156703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51v8
|
| Ensembl Gene |
ENSMUSG00000045780 |
| Gene Name |
olfactory receptor family 51 subfamily V member 8 |
| Synonyms |
Olfr624, MOR4-2P, GA_x6K02T2PBJ9-6394126-6393197 |
| MMRRC Submission |
039417-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R1352 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103319310-103320236 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103319518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 240
(H240R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062144]
|
| AlphaFold |
F8VQI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062144
AA Change: H240R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049938
Gene: ENSMUSG00000045780
AA Change: H240R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
27 |
306 |
3.3e-138 |
PFAM |
|
Pfam:7tm_1
|
37 |
288 |
1.8e-19 |
PFAM |
|
| Meta Mutation Damage Score |
0.4742 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.5%
|
| Validation Efficiency |
95% (42/44) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
G |
7: 45,784,892 (GRCm39) |
|
probably benign |
Het |
| Acbd3 |
T |
A |
1: 180,566,095 (GRCm39) |
Y263N |
probably damaging |
Het |
| Aldh4a1 |
T |
C |
4: 139,362,830 (GRCm39) |
V142A |
probably benign |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,258,415 (GRCm39) |
S138P |
probably damaging |
Het |
| Cbln4 |
T |
C |
2: 171,879,376 (GRCm39) |
K171E |
possibly damaging |
Het |
| Cd226 |
A |
G |
18: 89,265,298 (GRCm39) |
Y79C |
probably damaging |
Het |
| Dclre1a |
T |
C |
19: 56,533,595 (GRCm39) |
D333G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,268,329 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
G |
12: 98,797,262 (GRCm39) |
|
probably benign |
Het |
| Evx1 |
T |
C |
6: 52,293,995 (GRCm39) |
S388P |
probably damaging |
Het |
| Gins1 |
T |
A |
2: 150,772,768 (GRCm39) |
L177* |
probably null |
Het |
| Gm5422 |
A |
C |
10: 31,126,731 (GRCm39) |
|
noncoding transcript |
Het |
| Gmppa |
T |
A |
1: 75,417,178 (GRCm39) |
D204E |
probably benign |
Het |
| Ifna7 |
A |
C |
4: 88,734,897 (GRCm39) |
T145P |
possibly damaging |
Het |
| Inhbb |
T |
C |
1: 119,348,425 (GRCm39) |
D131G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,013,240 (GRCm39) |
K2679E |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,902,035 (GRCm39) |
H4N |
probably benign |
Het |
| Kng1 |
G |
T |
16: 22,886,444 (GRCm39) |
|
probably null |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,089 (GRCm39) |
A498V |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,328,486 (GRCm39) |
|
probably null |
Het |
| Nkapl |
T |
C |
13: 21,652,230 (GRCm39) |
R128G |
unknown |
Het |
| Or5bw2 |
A |
T |
7: 6,573,782 (GRCm39) |
Y264F |
probably benign |
Het |
| Prlr |
T |
C |
15: 10,328,872 (GRCm39) |
V449A |
probably benign |
Het |
| Rbm44 |
C |
A |
1: 91,080,764 (GRCm39) |
D317E |
probably damaging |
Het |
| Sirt5 |
T |
C |
13: 43,548,283 (GRCm39) |
S310P |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,207,185 (GRCm39) |
S856P |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,911,199 (GRCm39) |
|
probably benign |
Het |
| St6gal1 |
A |
G |
16: 23,140,401 (GRCm39) |
K191E |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,486,680 (GRCm39) |
Q152L |
probably benign |
Het |
| Stk3 |
T |
C |
15: 35,008,371 (GRCm39) |
D253G |
probably damaging |
Het |
| Tas2r139 |
C |
T |
6: 42,117,874 (GRCm39) |
A2V |
probably benign |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,224,207 (GRCm39) |
C1445S |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,978,081 (GRCm39) |
H195Q |
possibly damaging |
Het |
| Ttc21a |
A |
T |
9: 119,783,718 (GRCm39) |
E600V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,677,041 (GRCm39) |
|
probably benign |
Het |
| Vmn2r88 |
T |
C |
14: 51,656,007 (GRCm39) |
S740P |
probably damaging |
Het |
| Wrn |
A |
C |
8: 33,784,944 (GRCm39) |
V476G |
probably benign |
Het |
| Zdbf2 |
C |
A |
1: 63,342,212 (GRCm39) |
A197E |
probably damaging |
Het |
|
| Other mutations in Or51v8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02419:Or51v8
|
APN |
7 |
103,319,682 (GRCm39) |
nonsense |
probably null |
|
|
IGL02536:Or51v8
|
APN |
7 |
103,320,164 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02684:Or51v8
|
APN |
7 |
103,319,591 (GRCm39) |
missense |
probably benign |
0.06 |
|
FR4548:Or51v8
|
UTSW |
7 |
103,320,174 (GRCm39) |
nonsense |
probably null |
|
|
FR4548:Or51v8
|
UTSW |
7 |
103,320,167 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Or51v8
|
UTSW |
7 |
103,320,173 (GRCm39) |
small insertion |
probably benign |
|
|
R0295:Or51v8
|
UTSW |
7 |
103,319,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0518:Or51v8
|
UTSW |
7 |
103,319,696 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0521:Or51v8
|
UTSW |
7 |
103,319,696 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1779:Or51v8
|
UTSW |
7 |
103,319,845 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1878:Or51v8
|
UTSW |
7 |
103,319,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Or51v8
|
UTSW |
7 |
103,320,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2162:Or51v8
|
UTSW |
7 |
103,320,079 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2316:Or51v8
|
UTSW |
7 |
103,319,674 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3792:Or51v8
|
UTSW |
7 |
103,319,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3848:Or51v8
|
UTSW |
7 |
103,319,908 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4120:Or51v8
|
UTSW |
7 |
103,320,221 (GRCm39) |
missense |
probably benign |
|
|
R4183:Or51v8
|
UTSW |
7 |
103,320,178 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4853:Or51v8
|
UTSW |
7 |
103,320,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Or51v8
|
UTSW |
7 |
103,320,163 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7717:Or51v8
|
UTSW |
7 |
103,320,152 (GRCm39) |
missense |
probably benign |
|
|
R9091:Or51v8
|
UTSW |
7 |
103,320,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9270:Or51v8
|
UTSW |
7 |
103,320,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9273:Or51v8
|
UTSW |
7 |
103,319,633 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9378:Or51v8
|
UTSW |
7 |
103,319,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Or51v8
|
UTSW |
7 |
103,319,602 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGCAGTCCTCTTCTGAGAGTGC -3'
(R):5'- ACAGAATCCTGAAAATCGGAGTGGC -3'
Sequencing Primer
(F):5'- GGACCTGAGGACTTAGATTCCATTC -3'
(R):5'- CTGCACCAAGACTTGATTCG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation