Incidental Mutation 'R4294:Or2v2'
| ID |
323224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2v2
|
| Ensembl Gene |
ENSMUSG00000047511 |
| Gene Name |
olfactory receptor family 2 subfamily V member 2 |
| Synonyms |
Olfr1396, GA_x6K02T2QP88-6321048-6321995, MOR276-2 |
| MMRRC Submission |
041083-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R4294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
49003604-49004584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49004254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 100
(I100L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056759]
[ENSMUST00000060398]
[ENSMUST00000102785]
[ENSMUST00000109201]
[ENSMUST00000179282]
[ENSMUST00000203007]
[ENSMUST00000203149]
[ENSMUST00000203810]
[ENSMUST00000215553]
|
| AlphaFold |
Q7TQS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056759
|
| SMART Domains |
Protein: ENSMUSP00000058544
Gene: ENSMUSG00000040328
| 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 benign
Transcript: ENSMUST00000060398
AA Change: I100L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000056876
Gene: ENSMUSG00000047511
AA Change: I100L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
40 |
319 |
3.2e-46 |
PFAM |
|
Pfam:7tm_1
|
53 |
302 |
7.3e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102785
|
| SMART Domains |
Protein: ENSMUSP00000099846
Gene: ENSMUSG00000040328
| 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 benign
Transcript: ENSMUST00000109201
AA Change: I100L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000104824
Gene: ENSMUSG00000047511
AA Change: I100L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
36 |
252 |
1e-5 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
4e-35 |
PFAM |
|
Pfam:7tm_4
|
140 |
284 |
5.3e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179282
|
| SMART Domains |
Protein: ENSMUSP00000136647
Gene: ENSMUSG00000040328
| 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 benign
Transcript: ENSMUST00000203007
AA Change: I100L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000145057
Gene: ENSMUSG00000047511
AA Change: I100L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
308 |
9.6e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
252 |
1e-5 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
3.1e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203149
|
| SMART Domains |
Protein: ENSMUSP00000145429
Gene: ENSMUSG00000040328
| 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 benign
Transcript: ENSMUST00000203810
|
| SMART Domains |
Protein: ENSMUSP00000144951
Gene: ENSMUSG00000040328
| 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 |
noncoding transcript
Transcript: ENSMUST00000203412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215553
AA Change: I100L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0740 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (44/45) |
| 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 |
|---|
| 1110059E24Rik |
A |
T |
19: 21,576,113 (GRCm39) |
|
probably null |
Het |
| Abca3 |
A |
G |
17: 24,619,543 (GRCm39) |
I960M |
possibly damaging |
Het |
| Bivm |
A |
T |
1: 44,177,793 (GRCm39) |
R364S |
probably damaging |
Het |
| Bsnd |
C |
T |
4: 106,342,355 (GRCm39) |
R271H |
probably benign |
Het |
| Cckar |
A |
G |
5: 53,863,839 (GRCm39) |
S41P |
probably benign |
Het |
| Clip2 |
A |
C |
5: 134,521,167 (GRCm39) |
V957G |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 39,000,235 (GRCm39) |
I145F |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,806,005 (GRCm39) |
S121T |
probably benign |
Het |
| Dlc1 |
A |
G |
8: 37,051,907 (GRCm39) |
V608A |
possibly damaging |
Het |
| Dlg3 |
A |
T |
X: 99,840,288 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
T |
A |
9: 106,807,242 (GRCm39) |
R1362W |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Gimap8 |
A |
T |
6: 48,635,891 (GRCm39) |
H552L |
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,602 (GRCm39) |
T359A |
probably benign |
Het |
| Gucy1a1 |
A |
T |
3: 82,002,066 (GRCm39) |
F671Y |
possibly damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Magel2 |
T |
G |
7: 62,028,515 (GRCm39) |
V473G |
possibly damaging |
Het |
| Mapkapk3 |
T |
C |
9: 107,136,131 (GRCm39) |
|
probably benign |
Het |
| Nat8f1 |
T |
C |
6: 85,887,637 (GRCm39) |
T108A |
probably benign |
Het |
| Nphp3 |
T |
A |
9: 103,899,916 (GRCm39) |
L502Q |
probably damaging |
Het |
| Otud7a |
A |
G |
7: 63,346,939 (GRCm39) |
D171G |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Rpl27-ps3 |
T |
A |
18: 6,332,607 (GRCm39) |
|
probably null |
Het |
| Sec16a |
A |
G |
2: 26,312,167 (GRCm39) |
Y1998H |
probably benign |
Het |
| Setd5 |
AT |
ATT |
6: 113,088,281 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
A |
G |
5: 113,433,270 (GRCm39) |
Y182H |
probably damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Thrb |
C |
T |
14: 18,011,145 (GRCm38) |
Q174* |
probably null |
Het |
| Ticam1 |
A |
G |
17: 56,578,339 (GRCm39) |
I252T |
probably benign |
Het |
| Tmem237 |
A |
G |
1: 59,158,995 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
C |
T |
11: 73,131,290 (GRCm39) |
A276V |
probably damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,624 (GRCm39) |
I241F |
probably benign |
Het |
|
| Other mutations in Or2v2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Or2v2
|
APN |
11 |
49,003,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01514:Or2v2
|
APN |
11 |
49,004,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03188:Or2v2
|
APN |
11 |
49,004,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0314:Or2v2
|
UTSW |
11 |
49,004,519 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1242:Or2v2
|
UTSW |
11 |
49,003,728 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1625:Or2v2
|
UTSW |
11 |
49,004,071 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2212:Or2v2
|
UTSW |
11 |
49,004,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4290:Or2v2
|
UTSW |
11 |
49,004,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4291:Or2v2
|
UTSW |
11 |
49,004,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4292:Or2v2
|
UTSW |
11 |
49,004,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4295:Or2v2
|
UTSW |
11 |
49,004,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4351:Or2v2
|
UTSW |
11 |
49,004,530 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4817:Or2v2
|
UTSW |
11 |
49,004,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4859:Or2v2
|
UTSW |
11 |
49,003,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5245:Or2v2
|
UTSW |
11 |
49,004,116 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5350:Or2v2
|
UTSW |
11 |
49,003,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6625:Or2v2
|
UTSW |
11 |
49,003,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Or2v2
|
UTSW |
11 |
49,003,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8410:Or2v2
|
UTSW |
11 |
49,004,511 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8841:Or2v2
|
UTSW |
11 |
49,003,938 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9418:Or2v2
|
UTSW |
11 |
49,004,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0024:Or2v2
|
UTSW |
11 |
49,004,138 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCATTACCACTACCATCTGC -3'
(R):5'- TGGTCATGCTGGTCTTCACAG -3'
Sequencing Primer
(F):5'- TGCACCAGACCATCTGCTATC -3'
(R):5'- TGGTCTTCACAGCAGCATTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation