Incidental Mutation 'R1212:Vmn1r113'
| ID |
99444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r113
|
| Ensembl Gene |
ENSMUSG00000091638 |
| Gene Name |
vomeronasal 1 receptor 113 |
| Synonyms |
Gm5748 |
| MMRRC Submission |
039281-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1212 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
20521210-20522133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 20521356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 49
(R49S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168794]
[ENSMUST00000173723]
|
| AlphaFold |
G3UWI8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168794
AA Change: R49S
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000126041
Gene: ENSMUSG00000091638
AA Change: R49S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
288 |
4.2e-8 |
PFAM |
|
Pfam:V1R
|
41 |
288 |
2.8e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173723
AA Change: R49S
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000133307
Gene: ENSMUSG00000091638
AA Change: R49S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
8 |
298 |
4e-16 |
PFAM |
|
Pfam:7tm_1
|
31 |
290 |
9.3e-7 |
PFAM |
|
Pfam:V1R
|
41 |
298 |
5e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 93.2%
- 20x: 82.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambra1 |
G |
A |
2: 91,599,381 (GRCm39) |
R167H |
possibly damaging |
Het |
| Ankrd50 |
G |
A |
3: 38,509,836 (GRCm39) |
R844C |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,286,784 (GRCm39) |
E42G |
probably benign |
Het |
| Arhgap42 |
T |
A |
9: 9,015,313 (GRCm39) |
I444F |
probably damaging |
Het |
| Cspg4b |
G |
A |
13: 113,505,951 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
A |
G |
6: 38,387,728 (GRCm39) |
D393G |
probably damaging |
Het |
| Ift70a2 |
A |
T |
2: 75,806,823 (GRCm39) |
I563N |
probably damaging |
Het |
| Il25 |
G |
A |
14: 55,170,212 (GRCm39) |
|
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,046,291 (GRCm39) |
L105P |
probably damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,199,902 (GRCm39) |
V1214A |
probably benign |
Het |
| Shtn1 |
T |
C |
19: 59,039,322 (GRCm39) |
D39G |
probably damaging |
Het |
| Supt16 |
G |
A |
14: 52,411,581 (GRCm39) |
R601* |
probably null |
Het |
| Vmn1r64 |
C |
T |
7: 5,887,210 (GRCm39) |
S111N |
probably damaging |
Het |
|
| Other mutations in Vmn1r113 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01908:Vmn1r113
|
APN |
7 |
20,521,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02082:Vmn1r113
|
APN |
7 |
20,521,672 (GRCm39) |
missense |
probably benign |
|
|
IGL02148:Vmn1r113
|
APN |
7 |
20,521,747 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03169:Vmn1r113
|
APN |
7 |
20,522,012 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0593:Vmn1r113
|
UTSW |
7 |
20,521,388 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0669:Vmn1r113
|
UTSW |
7 |
20,521,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1693:Vmn1r113
|
UTSW |
7 |
20,521,532 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2228:Vmn1r113
|
UTSW |
7 |
20,521,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3945:Vmn1r113
|
UTSW |
7 |
20,521,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4209:Vmn1r113
|
UTSW |
7 |
20,521,535 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5038:Vmn1r113
|
UTSW |
7 |
20,521,419 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6306:Vmn1r113
|
UTSW |
7 |
20,521,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6623:Vmn1r113
|
UTSW |
7 |
20,521,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6675:Vmn1r113
|
UTSW |
7 |
20,521,903 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6677:Vmn1r113
|
UTSW |
7 |
20,521,903 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6678:Vmn1r113
|
UTSW |
7 |
20,521,903 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6968:Vmn1r113
|
UTSW |
7 |
20,521,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7054:Vmn1r113
|
UTSW |
7 |
20,521,427 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7256:Vmn1r113
|
UTSW |
7 |
20,521,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8926:Vmn1r113
|
UTSW |
7 |
20,521,874 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9131:Vmn1r113
|
UTSW |
7 |
20,521,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAAAAGCCCTCTCCATGTCTG -3'
(R):5'- GCCATGTTTGTGACACTTGCTCTG -3'
Sequencing Primer
(F):5'- CTGTTCATGGTAACTCCCTGAAAAC -3'
(R):5'- TGACAAACTGGTGGACACTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation