Incidental Mutation 'PIT4354001:Or2v1'
| ID |
554826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2v1
|
| Ensembl Gene |
ENSMUSG00000040328 |
| Gene Name |
olfactory receptor family 2 subfamily V member 1 |
| Synonyms |
GA_x6K02T2QP88-6300500-6299553, Olfr56, IF7, MOR276-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
PIT4354001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
49025000-49026214 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 49025132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 38
(V38M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056759]
[ENSMUST00000102785]
[ENSMUST00000179282]
[ENSMUST00000203149]
[ENSMUST00000203810]
|
| AlphaFold |
Q8VGD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056759
AA Change: V6M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328
AA Change: V6M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
|
Pfam:7tm_1
|
10 |
259 |
1.5e-33 |
PFAM |
|
Pfam:7tm_4
|
108 |
252 |
1.7e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102785
AA Change: V6M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000099846
Gene: ENSMUSG00000040328
AA Change: V6M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
|
Pfam:7tm_1
|
10 |
259 |
1.5e-33 |
PFAM |
|
Pfam:7tm_4
|
108 |
252 |
1.7e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179282
AA Change: V6M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328
AA Change: V6M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
1 |
276 |
3.6e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
4 |
227 |
5.7e-7 |
PFAM |
|
Pfam:7tm_1
|
10 |
259 |
3.8e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203149
AA Change: V38M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000145429
Gene: ENSMUSG00000040328
AA Change: V38M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
308 |
2.6e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
253 |
3.8e-7 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
2.5e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203810
AA Change: V38M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144951
Gene: ENSMUSG00000040328
AA Change: V38M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
308 |
2.6e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
253 |
3.8e-7 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
2.5e-26 |
PFAM |
|
| Coding Region Coverage |
- 1x: 92.5%
- 3x: 90.1%
- 10x: 83.2%
- 20x: 69.0%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
T |
5: 62,811,392 (GRCm39) |
Y1140N |
probably damaging |
Het |
| Ccdc83 |
A |
T |
7: 89,873,182 (GRCm39) |
M391K |
probably benign |
Het |
| Cntnap1 |
A |
T |
11: 101,072,123 (GRCm39) |
I459F |
probably damaging |
Het |
| Cr2 |
T |
A |
1: 194,848,617 (GRCm39) |
Y302F |
probably damaging |
Het |
| Ctu2 |
A |
T |
8: 123,205,714 (GRCm39) |
D179V |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,473,663 (GRCm39) |
Q427* |
probably null |
Het |
| Depdc7 |
A |
G |
2: 104,558,533 (GRCm39) |
S163P |
probably benign |
Het |
| Eif2s3y |
C |
T |
Y: 1,020,126 (GRCm39) |
R385C |
probably benign |
Het |
| Gigyf1 |
A |
G |
5: 137,522,366 (GRCm39) |
K728R |
unknown |
Het |
| Gm1587 |
G |
A |
14: 78,034,473 (GRCm39) |
R32* |
probably null |
Het |
| Hjv |
T |
C |
3: 96,435,761 (GRCm39) |
C340R |
probably damaging |
Het |
| Isy1 |
A |
G |
6: 87,810,653 (GRCm39) |
I53T |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,180,456 (GRCm39) |
N564I |
probably benign |
Het |
| Neb |
A |
T |
2: 52,135,330 (GRCm39) |
I3260N |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,344,592 (GRCm39) |
G426E |
probably benign |
Het |
| Nrdc |
G |
A |
4: 108,911,222 (GRCm39) |
|
probably null |
Het |
| Or4c10b |
T |
A |
2: 89,711,852 (GRCm39) |
S227R |
probably benign |
Het |
| Or4c116 |
C |
A |
2: 88,942,830 (GRCm39) |
E9* |
probably null |
Het |
| Pate8 |
T |
A |
9: 36,492,597 (GRCm39) |
S103C |
possibly damaging |
Het |
| Prss51 |
T |
A |
14: 64,334,546 (GRCm39) |
V91D |
probably damaging |
Het |
| Qpct |
A |
C |
17: 79,389,188 (GRCm39) |
Y280S |
probably benign |
Het |
| Rbpms |
A |
G |
8: 34,296,866 (GRCm39) |
V137A |
possibly damaging |
Het |
| Rgl2 |
T |
A |
17: 34,152,914 (GRCm39) |
M441K |
possibly damaging |
Het |
| Sdhaf3 |
A |
T |
6: 6,956,072 (GRCm39) |
I16F |
possibly damaging |
Het |
| Slc38a3 |
T |
G |
9: 107,534,848 (GRCm39) |
N176H |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,756,785 (GRCm39) |
S256G |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,918,666 (GRCm39) |
C988S |
probably damaging |
Het |
| Sync |
A |
T |
4: 129,200,447 (GRCm39) |
Q451L |
possibly damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,831,329 (GRCm39) |
Y929C |
probably benign |
Het |
| Thbs2 |
G |
A |
17: 14,910,230 (GRCm39) |
T123I |
probably damaging |
Het |
| Thsd7a |
A |
C |
6: 12,331,926 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
T |
C |
1: 105,749,242 (GRCm39) |
L220P |
probably damaging |
Het |
| Trbv13-2 |
G |
A |
6: 41,098,752 (GRCm39) |
C109Y |
probably damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,306,446 (GRCm39) |
W198* |
probably null |
Het |
| Usp14 |
G |
A |
18: 9,996,189 (GRCm39) |
R464W |
probably damaging |
Het |
| Vmn1r2 |
C |
T |
4: 3,172,162 (GRCm39) |
S27L |
probably benign |
Het |
| Vmn1r68 |
T |
A |
7: 10,261,958 (GRCm39) |
N47Y |
probably benign |
Het |
| Zfc3h1 |
T |
A |
10: 115,262,944 (GRCm39) |
Y1719* |
probably null |
Het |
|
| Other mutations in Or2v1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0200:Or2v1
|
UTSW |
11 |
49,025,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0540:Or2v1
|
UTSW |
11 |
49,025,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Or2v1
|
UTSW |
11 |
49,025,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4877:Or2v1
|
UTSW |
11 |
49,025,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5027:Or2v1
|
UTSW |
11 |
49,025,451 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5598:Or2v1
|
UTSW |
11 |
49,025,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5952:Or2v1
|
UTSW |
11 |
49,025,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Or2v1
|
UTSW |
11 |
49,025,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6475:Or2v1
|
UTSW |
11 |
49,025,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6565:Or2v1
|
UTSW |
11 |
49,025,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6807:Or2v1
|
UTSW |
11 |
49,025,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7228:Or2v1
|
UTSW |
11 |
49,025,706 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7792:Or2v1
|
UTSW |
11 |
49,025,496 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8255:Or2v1
|
UTSW |
11 |
49,025,307 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8752:Or2v1
|
UTSW |
11 |
49,025,505 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATGGTGCTTCATCTCAG -3'
(R):5'- AGTCCTAACAAGAGACCCTCTG -3'
Sequencing Primer
(F):5'- ATGGTGCTTCATCTCAGAACGTC -3'
(R):5'- ATTTGTATGCCACAGCCGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation