Incidental Mutation 'R0094:Vmn1r213'
ID |
64015 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r213
|
Ensembl Gene |
ENSMUSG00000060024 |
Gene Name |
vomeronasal 1 receptor 213 |
Synonyms |
V1rh6 |
MMRRC Submission |
038380-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R0094 (G1)
|
Quality Score |
148 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
23195419-23196573 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23195819 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 134
(H134R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076897]
[ENSMUST00000227573]
[ENSMUST00000228031]
[ENSMUST00000228758]
|
AlphaFold |
Q8R278 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000076897
AA Change: H134R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000076163 Gene: ENSMUSG00000060024 AA Change: H134R
Domain | Start | End | E-Value | Type |
transmembrane domain
|
95 |
117 |
N/A |
INTRINSIC |
Pfam:V1R
|
118 |
382 |
4.3e-31 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227573
AA Change: H48R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228031
AA Change: H48R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228758
AA Change: H134R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
T |
A |
9: 46,218,184 (GRCm39) |
T185S |
possibly damaging |
Het |
Amotl1 |
A |
G |
9: 14,486,683 (GRCm39) |
S441P |
probably benign |
Het |
Ap5z1 |
G |
A |
5: 142,462,567 (GRCm39) |
V626M |
probably benign |
Het |
Cacna2d3 |
C |
T |
14: 28,892,460 (GRCm39) |
|
probably null |
Het |
Cfap77 |
A |
T |
2: 28,874,446 (GRCm39) |
V128D |
probably damaging |
Het |
Colgalt1 |
T |
C |
8: 72,075,802 (GRCm39) |
V483A |
probably damaging |
Het |
Dcdc2b |
T |
C |
4: 129,504,104 (GRCm39) |
|
probably null |
Het |
Dsg2 |
A |
T |
18: 20,724,910 (GRCm39) |
T439S |
probably benign |
Het |
Dtx1 |
A |
G |
5: 120,820,689 (GRCm39) |
Y455H |
probably damaging |
Het |
Frmpd1 |
C |
A |
4: 45,284,899 (GRCm39) |
S1240* |
probably null |
Het |
Gypa |
T |
A |
8: 81,227,560 (GRCm39) |
H69Q |
unknown |
Het |
Mfap5 |
G |
A |
6: 122,502,951 (GRCm39) |
V54I |
probably damaging |
Het |
Mroh7 |
C |
T |
4: 106,560,381 (GRCm39) |
G641E |
probably damaging |
Het |
Mvd |
C |
T |
8: 123,166,442 (GRCm39) |
R65H |
probably benign |
Het |
Or14c40 |
A |
G |
7: 86,313,502 (GRCm39) |
S211G |
probably benign |
Het |
Pigs |
T |
A |
11: 78,230,864 (GRCm39) |
N370K |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,800,250 (GRCm39) |
T3004A |
possibly damaging |
Het |
Pkhd1 |
T |
A |
1: 20,279,470 (GRCm39) |
R2949S |
probably damaging |
Het |
Ptpro |
T |
C |
6: 137,363,350 (GRCm39) |
Y495H |
probably benign |
Het |
Rfc4 |
G |
T |
16: 22,934,178 (GRCm39) |
Q208K |
probably benign |
Het |
Rpa2 |
T |
C |
4: 132,497,893 (GRCm39) |
S52P |
probably damaging |
Het |
Sirpb1c |
G |
T |
3: 15,892,922 (GRCm39) |
T94K |
possibly damaging |
Het |
Sis |
A |
T |
3: 72,828,770 (GRCm39) |
N1136K |
probably damaging |
Het |
Spp2 |
T |
A |
1: 88,348,402 (GRCm39) |
|
probably null |
Het |
Ubr3 |
C |
T |
2: 69,781,706 (GRCm39) |
T628I |
probably damaging |
Het |
Vmn2r59 |
T |
C |
7: 41,661,722 (GRCm39) |
R698G |
probably benign |
Het |
|
Other mutations in Vmn1r213 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0018:Vmn1r213
|
UTSW |
13 |
23,196,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R0324:Vmn1r213
|
UTSW |
13 |
23,195,588 (GRCm39) |
intron |
probably benign |
|
R0389:Vmn1r213
|
UTSW |
13 |
23,195,932 (GRCm39) |
missense |
probably benign |
0.00 |
R0650:Vmn1r213
|
UTSW |
13 |
23,195,564 (GRCm39) |
intron |
probably benign |
|
R0652:Vmn1r213
|
UTSW |
13 |
23,195,564 (GRCm39) |
intron |
probably benign |
|
R1902:Vmn1r213
|
UTSW |
13 |
23,196,476 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1996:Vmn1r213
|
UTSW |
13 |
23,196,473 (GRCm39) |
missense |
probably benign |
0.02 |
R1997:Vmn1r213
|
UTSW |
13 |
23,196,473 (GRCm39) |
missense |
probably benign |
0.02 |
R4214:Vmn1r213
|
UTSW |
13 |
23,196,173 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4409:Vmn1r213
|
UTSW |
13 |
23,195,593 (GRCm39) |
intron |
probably benign |
|
R4650:Vmn1r213
|
UTSW |
13 |
23,196,422 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4685:Vmn1r213
|
UTSW |
13 |
23,195,800 (GRCm39) |
missense |
probably benign |
0.05 |
R4698:Vmn1r213
|
UTSW |
13 |
23,195,507 (GRCm39) |
intron |
probably benign |
|
R4799:Vmn1r213
|
UTSW |
13 |
23,196,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R4807:Vmn1r213
|
UTSW |
13 |
23,195,775 (GRCm39) |
nonsense |
probably null |
|
R5853:Vmn1r213
|
UTSW |
13 |
23,195,684 (GRCm39) |
missense |
probably benign |
0.32 |
R7389:Vmn1r213
|
UTSW |
13 |
23,196,556 (GRCm39) |
missense |
probably benign |
0.18 |
R7414:Vmn1r213
|
UTSW |
13 |
23,195,446 (GRCm39) |
missense |
unknown |
|
R8054:Vmn1r213
|
UTSW |
13 |
23,195,910 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9069:Vmn1r213
|
UTSW |
13 |
23,196,043 (GRCm39) |
missense |
probably damaging |
1.00 |
R9155:Vmn1r213
|
UTSW |
13 |
23,196,343 (GRCm39) |
nonsense |
probably null |
|
R9428:Vmn1r213
|
UTSW |
13 |
23,195,944 (GRCm39) |
missense |
|
|
R9469:Vmn1r213
|
UTSW |
13 |
23,196,101 (GRCm39) |
missense |
probably benign |
0.22 |
R9633:Vmn1r213
|
UTSW |
13 |
23,195,519 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGTGCAGTTCAGATCCATGTCTAGC -3'
(R):5'- ACTGATGATGATGGCCTGGACCAC -3'
Sequencing Primer
(F):5'- CAGTTCAGATCCATGTCTAGCATTAC -3'
(R):5'- CCACAGTGAGGAGACTGC -3'
|
Posted On |
2013-08-06 |