Incidental Mutation 'R3024:Vmn1r238'
| ID |
265785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r238
|
| Ensembl Gene |
ENSMUSG00000091539 |
| Gene Name |
vomeronasal 1 receptor, 238 |
| Synonyms |
|
| MMRRC Submission |
040540-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R3024 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
3122492-3123412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3123305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 36
(I36M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129804
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165255]
|
| AlphaFold |
E9Q373 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165255
AA Change: I36M
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000129804
Gene: ENSMUSG00000091539
AA Change: I36M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
7 |
302 |
5.3e-8 |
PFAM |
|
Pfam:7tm_1
|
27 |
292 |
8.8e-7 |
PFAM |
|
Pfam:V1R
|
34 |
298 |
1.9e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef37 |
T |
C |
18: 61,634,959 (GRCm39) |
E461G |
probably damaging |
Het |
| Bfsp1 |
A |
T |
2: 143,687,879 (GRCm39) |
V182D |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
| Chil6 |
T |
C |
3: 106,296,086 (GRCm39) |
D383G |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,081,808 (GRCm39) |
A175V |
probably benign |
Het |
| Kcnh7 |
G |
T |
2: 62,595,007 (GRCm39) |
R688S |
probably damaging |
Het |
| Krt6a |
A |
T |
15: 101,599,724 (GRCm39) |
C463S |
probably benign |
Het |
| Ksr2 |
T |
A |
5: 117,693,125 (GRCm39) |
I191N |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,833,272 (GRCm39) |
V1698A |
probably benign |
Het |
| Or12d13 |
A |
T |
17: 37,647,918 (GRCm39) |
D68E |
probably damaging |
Het |
| Or4c127 |
A |
T |
2: 89,833,584 (GRCm39) |
N278I |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,763,795 (GRCm39) |
R572Q |
probably benign |
Het |
| Pes1 |
CGGAGGAGGAGGAGGAGGAGGAGG |
CGGAGGAGGAGGAGGAGGAGG |
11: 3,927,719 (GRCm39) |
|
probably benign |
Het |
| Phf20 |
A |
G |
2: 156,129,787 (GRCm39) |
H453R |
probably damaging |
Het |
| Prex1 |
G |
T |
2: 166,430,956 (GRCm39) |
H615Q |
probably benign |
Het |
| Slc25a54 |
T |
A |
3: 108,987,982 (GRCm39) |
I41N |
probably damaging |
Het |
| Slc35f5 |
A |
G |
1: 125,496,335 (GRCm39) |
S157G |
probably benign |
Het |
| Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
| Trim41 |
T |
C |
11: 48,698,985 (GRCm39) |
K420E |
possibly damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,568,375 (GRCm39) |
Y353C |
probably damaging |
Het |
| Xylt1 |
T |
A |
7: 117,147,883 (GRCm39) |
V149D |
probably damaging |
Het |
| Zfpm2 |
G |
A |
15: 40,966,355 (GRCm39) |
E815K |
probably benign |
Het |
|
| Other mutations in Vmn1r238 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Vmn1r238
|
APN |
18 |
3,123,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01385:Vmn1r238
|
APN |
18 |
3,122,770 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02716:Vmn1r238
|
APN |
18 |
3,123,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1219:Vmn1r238
|
UTSW |
18 |
3,123,135 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1568:Vmn1r238
|
UTSW |
18 |
3,123,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1864:Vmn1r238
|
UTSW |
18 |
3,123,040 (GRCm39) |
nonsense |
probably null |
|
|
R4291:Vmn1r238
|
UTSW |
18 |
3,123,214 (GRCm39) |
nonsense |
probably null |
|
|
R4304:Vmn1r238
|
UTSW |
18 |
3,123,040 (GRCm39) |
nonsense |
probably null |
|
|
R4586:Vmn1r238
|
UTSW |
18 |
3,123,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Vmn1r238
|
UTSW |
18 |
3,123,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5123:Vmn1r238
|
UTSW |
18 |
3,123,243 (GRCm39) |
missense |
probably benign |
|
|
R5430:Vmn1r238
|
UTSW |
18 |
3,122,521 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5834:Vmn1r238
|
UTSW |
18 |
3,123,168 (GRCm39) |
missense |
probably benign |
|
|
R7186:Vmn1r238
|
UTSW |
18 |
3,122,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7206:Vmn1r238
|
UTSW |
18 |
3,122,623 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7308:Vmn1r238
|
UTSW |
18 |
3,122,875 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7346:Vmn1r238
|
UTSW |
18 |
3,123,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Vmn1r238
|
UTSW |
18 |
3,123,393 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7571:Vmn1r238
|
UTSW |
18 |
3,122,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Vmn1r238
|
UTSW |
18 |
3,123,033 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8085:Vmn1r238
|
UTSW |
18 |
3,123,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8086:Vmn1r238
|
UTSW |
18 |
3,123,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8325:Vmn1r238
|
UTSW |
18 |
3,122,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8423:Vmn1r238
|
UTSW |
18 |
3,123,365 (GRCm39) |
nonsense |
probably null |
|
|
R8747:Vmn1r238
|
UTSW |
18 |
3,123,232 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8930:Vmn1r238
|
UTSW |
18 |
3,123,127 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8932:Vmn1r238
|
UTSW |
18 |
3,123,127 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9279:Vmn1r238
|
UTSW |
18 |
3,122,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9382:Vmn1r238
|
UTSW |
18 |
3,122,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9644:Vmn1r238
|
UTSW |
18 |
3,122,635 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9725:Vmn1r238
|
UTSW |
18 |
3,122,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Vmn1r238
|
UTSW |
18 |
3,122,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAACAACTCACTAGGCACA -3'
(R):5'- ATGCTTTATTTATGCTTACTTCACCA -3'
Sequencing Primer
(F):5'- GCACATAGCATAAAGAGACACC -3'
(R):5'- CAAGTTCAGGGATTTTGGAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation