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: 0.140)
|
Stock # |
IGL02670
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
23320655-23321551 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23321174 bp (GRCm39)
|
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 |
Asb1 |
T |
C |
1: 91,474,640 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
C |
T |
3: 37,021,454 (GRCm39) |
Q2193* |
probably null |
Het |
Cnot6 |
G |
A |
11: 49,575,941 (GRCm39) |
Q178* |
probably null |
Het |
Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
Cyp27b1 |
T |
C |
10: 126,886,227 (GRCm39) |
S303P |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,409,442 (GRCm39) |
L3620P |
probably damaging |
Het |
Dock7 |
A |
T |
4: 98,854,523 (GRCm39) |
|
probably null |
Het |
Fam161b |
T |
C |
12: 84,404,368 (GRCm39) |
D104G |
probably benign |
Het |
Fam8a1 |
A |
G |
13: 46,827,080 (GRCm39) |
M284V |
possibly damaging |
Het |
Fkbp3 |
T |
A |
12: 65,115,877 (GRCm39) |
K65* |
probably null |
Het |
Gatb |
A |
G |
3: 85,520,858 (GRCm39) |
|
probably null |
Het |
Gm572 |
A |
T |
4: 148,735,685 (GRCm39) |
H38L |
probably benign |
Het |
Gm6576 |
A |
C |
15: 27,025,598 (GRCm39) |
|
noncoding transcript |
Het |
L2hgdh |
G |
A |
12: 69,739,254 (GRCm39) |
R406W |
possibly damaging |
Het |
Lmo7 |
A |
T |
14: 102,118,416 (GRCm39) |
T214S |
probably damaging |
Het |
Map3k12 |
T |
C |
15: 102,411,981 (GRCm39) |
H361R |
probably benign |
Het |
Mios |
T |
C |
6: 8,235,378 (GRCm39) |
|
probably benign |
Het |
Mta1 |
T |
C |
12: 113,093,741 (GRCm39) |
L315P |
probably damaging |
Het |
Pask |
A |
C |
1: 93,238,540 (GRCm39) |
V1315G |
probably damaging |
Het |
Pias4 |
A |
T |
10: 80,999,904 (GRCm39) |
C50S |
probably damaging |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Sgk1 |
T |
A |
10: 21,804,445 (GRCm39) |
C92S |
probably benign |
Het |
Slc2a13 |
C |
T |
15: 91,381,712 (GRCm39) |
G259E |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,910,934 (GRCm39) |
C301R |
probably damaging |
Het |
Sstr4 |
G |
T |
2: 148,238,453 (GRCm39) |
G355* |
probably null |
Het |
Tnrc6a |
T |
A |
7: 122,770,535 (GRCm39) |
L775Q |
possibly damaging |
Het |
Xpa |
A |
G |
4: 46,185,682 (GRCm39) |
F99L |
probably benign |
Het |
|
Other mutations in Vmn1r218 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02014:Vmn1r218
|
APN |
13 |
23,321,001 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03085:Vmn1r218
|
APN |
13 |
23,321,481 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL03334:Vmn1r218
|
APN |
13 |
23,320,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Vmn1r218
|
UTSW |
13 |
23,321,225 (GRCm39) |
nonsense |
probably null |
|
R0049:Vmn1r218
|
UTSW |
13 |
23,321,225 (GRCm39) |
nonsense |
probably null |
|
R1387:Vmn1r218
|
UTSW |
13 |
23,321,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Vmn1r218
|
UTSW |
13 |
23,320,683 (GRCm39) |
missense |
probably damaging |
0.96 |
R3713:Vmn1r218
|
UTSW |
13 |
23,321,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R3714:Vmn1r218
|
UTSW |
13 |
23,321,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R4037:Vmn1r218
|
UTSW |
13 |
23,320,971 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4038:Vmn1r218
|
UTSW |
13 |
23,320,971 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4039:Vmn1r218
|
UTSW |
13 |
23,320,971 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4432:Vmn1r218
|
UTSW |
13 |
23,321,412 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5255:Vmn1r218
|
UTSW |
13 |
23,320,881 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5521:Vmn1r218
|
UTSW |
13 |
23,320,743 (GRCm39) |
missense |
probably benign |
0.01 |
R7384:Vmn1r218
|
UTSW |
13 |
23,320,895 (GRCm39) |
missense |
probably benign |
0.00 |
R7565:Vmn1r218
|
UTSW |
13 |
23,320,830 (GRCm39) |
missense |
probably benign |
0.05 |
R8178:Vmn1r218
|
UTSW |
13 |
23,321,472 (GRCm39) |
missense |
probably benign |
0.08 |
R8536:Vmn1r218
|
UTSW |
13 |
23,321,535 (GRCm39) |
missense |
probably benign |
0.00 |
R9225:Vmn1r218
|
UTSW |
13 |
23,320,824 (GRCm39) |
missense |
probably benign |
0.04 |
R9609:Vmn1r218
|
UTSW |
13 |
23,320,839 (GRCm39) |
missense |
probably benign |
0.01 |
R9734:Vmn1r218
|
UTSW |
13 |
23,321,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |