Incidental Mutation 'IGL02670:Vmn1r218'
| ID |
302882 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn1r218
|
| Ensembl Gene |
ENSMUSG00000115020 |
| Gene Name |
vomeronasal 1 receptor 218 |
| Synonyms |
V1ri5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
IGL02670
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23133155-23146112 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23137004 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 94
(I94V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074992]
[ENSMUST00000226692]
[ENSMUST00000227050]
[ENSMUST00000227160]
[ENSMUST00000227741]
|
| AlphaFold |
Q8R261 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074992
AA Change: I174V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000074519
Gene: ENSMUSG00000115020
AA Change: I174V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
288 |
2e-7 |
PFAM |
|
Pfam:V1R
|
33 |
297 |
5.4e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226692
AA Change: I174V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227050
AA Change: I174V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227160
AA Change: I94V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227741
AA Change: I94V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228348
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438A13Rik |
C |
T |
3: 36,967,305 (GRCm38) |
Q2193* |
probably null |
Het |
| Asb1 |
T |
C |
1: 91,546,918 (GRCm38) |
|
probably benign |
Het |
| Cnot6 |
G |
A |
11: 49,685,114 (GRCm38) |
Q178* |
probably null |
Het |
| Col5a1 |
C |
T |
2: 27,974,715 (GRCm38) |
A737V |
unknown |
Het |
| Cyp27b1 |
T |
C |
10: 127,050,358 (GRCm38) |
S303P |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,409,296 (GRCm38) |
L3620P |
probably damaging |
Het |
| Dock7 |
A |
T |
4: 98,966,286 (GRCm38) |
|
probably null |
Het |
| Fam161b |
T |
C |
12: 84,357,594 (GRCm38) |
D104G |
probably benign |
Het |
| Fam8a1 |
A |
G |
13: 46,673,604 (GRCm38) |
M284V |
possibly damaging |
Het |
| Fkbp3 |
T |
A |
12: 65,069,103 (GRCm38) |
K65* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,613,551 (GRCm38) |
|
probably null |
Het |
| Gm572 |
A |
T |
4: 148,651,228 (GRCm38) |
H38L |
probably benign |
Het |
| Gm6576 |
A |
C |
15: 27,025,512 (GRCm38) |
|
noncoding transcript |
Het |
| L2hgdh |
G |
A |
12: 69,692,480 (GRCm38) |
R406W |
possibly damaging |
Het |
| Lmo7 |
A |
T |
14: 101,880,980 (GRCm38) |
T214S |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,503,546 (GRCm38) |
H361R |
probably benign |
Het |
| Mios |
T |
C |
6: 8,235,378 (GRCm38) |
|
probably benign |
Het |
| Mta1 |
T |
C |
12: 113,130,121 (GRCm38) |
L315P |
probably damaging |
Het |
| Pask |
A |
C |
1: 93,310,818 (GRCm38) |
V1315G |
probably damaging |
Het |
| Pias4 |
A |
T |
10: 81,164,070 (GRCm38) |
C50S |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,207,631 (GRCm38) |
V279I |
probably benign |
Het |
| Sgk1 |
T |
A |
10: 21,928,546 (GRCm38) |
C92S |
probably benign |
Het |
| Slc2a13 |
C |
T |
15: 91,497,509 (GRCm38) |
G259E |
probably damaging |
Het |
| Slc5a4b |
A |
G |
10: 76,075,100 (GRCm38) |
C301R |
probably damaging |
Het |
| Sstr4 |
G |
T |
2: 148,396,533 (GRCm38) |
G355* |
probably null |
Het |
| Tnrc6a |
T |
A |
7: 123,171,312 (GRCm38) |
L775Q |
possibly damaging |
Het |
| Xpa |
A |
G |
4: 46,185,682 (GRCm38) |
F99L |
probably benign |
Het |
|
| Other mutations in Vmn1r218 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02014:Vmn1r218
|
APN |
13 |
23,136,831 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03085:Vmn1r218
|
APN |
13 |
23,137,311 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL03334:Vmn1r218
|
APN |
13 |
23,136,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0049:Vmn1r218
|
UTSW |
13 |
23,137,055 (GRCm38) |
nonsense |
probably null |
|
|
R0049:Vmn1r218
|
UTSW |
13 |
23,137,055 (GRCm38) |
nonsense |
probably null |
|
|
R1387:Vmn1r218
|
UTSW |
13 |
23,137,308 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1959:Vmn1r218
|
UTSW |
13 |
23,136,513 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3713:Vmn1r218
|
UTSW |
13 |
23,136,911 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3714:Vmn1r218
|
UTSW |
13 |
23,136,911 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4037:Vmn1r218
|
UTSW |
13 |
23,136,801 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4038:Vmn1r218
|
UTSW |
13 |
23,136,801 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4039:Vmn1r218
|
UTSW |
13 |
23,136,801 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4432:Vmn1r218
|
UTSW |
13 |
23,137,242 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5255:Vmn1r218
|
UTSW |
13 |
23,136,711 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5521:Vmn1r218
|
UTSW |
13 |
23,136,573 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7384:Vmn1r218
|
UTSW |
13 |
23,136,725 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7565:Vmn1r218
|
UTSW |
13 |
23,136,660 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8178:Vmn1r218
|
UTSW |
13 |
23,137,302 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8536:Vmn1r218
|
UTSW |
13 |
23,137,365 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9225:Vmn1r218
|
UTSW |
13 |
23,136,654 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9609:Vmn1r218
|
UTSW |
13 |
23,136,669 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9734:Vmn1r218
|
UTSW |
13 |
23,136,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation