Incidental Mutation 'R4036:Vmn1r219'
ID |
313725 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r219
|
Ensembl Gene |
ENSMUSG00000061376 |
Gene Name |
vomeronasal 1 receptor 219 |
Synonyms |
V1rh13 |
MMRRC Submission |
040963-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
R4036 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
23346813-23347751 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23347272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 154
(M154V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076180]
[ENSMUST00000226845]
[ENSMUST00000227388]
[ENSMUST00000228113]
[ENSMUST00000228666]
|
AlphaFold |
Q8R271 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000076180
AA Change: M154V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000075537 Gene: ENSMUSG00000061376 AA Change: M154V
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
2 |
301 |
3.4e-7 |
PFAM |
Pfam:V1R
|
33 |
297 |
3e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226845
AA Change: M154V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227388
AA Change: M154V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228113
AA Change: M154V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228666
AA Change: M154V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544M13Rik |
T |
C |
13: 114,744,205 (GRCm39) |
|
noncoding transcript |
Het |
Ahctf1 |
T |
C |
1: 179,590,181 (GRCm39) |
Q1364R |
possibly damaging |
Het |
Anxa2 |
A |
G |
9: 69,395,352 (GRCm39) |
N265S |
probably damaging |
Het |
Bcan |
A |
G |
3: 87,903,423 (GRCm39) |
|
probably null |
Het |
Cntln |
A |
G |
4: 84,924,725 (GRCm39) |
Y610C |
probably damaging |
Het |
Cyp39a1 |
C |
A |
17: 43,987,831 (GRCm39) |
A99E |
probably damaging |
Het |
Drc1 |
A |
G |
5: 30,504,526 (GRCm39) |
I223V |
probably benign |
Het |
Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,094,570 (GRCm39) |
L1167P |
probably damaging |
Het |
Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
Gns |
C |
A |
10: 121,207,095 (GRCm39) |
T72N |
probably damaging |
Het |
Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,447,511 (GRCm39) |
I9V |
probably null |
Het |
Map4 |
A |
G |
9: 109,861,283 (GRCm39) |
T216A |
possibly damaging |
Het |
Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
Ndc1 |
G |
A |
4: 107,268,269 (GRCm39) |
D602N |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
Or5ac22 |
T |
A |
16: 59,135,113 (GRCm39) |
H219L |
probably benign |
Het |
Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
Pomt2 |
A |
G |
12: 87,158,296 (GRCm39) |
|
probably null |
Het |
Prrt3 |
AGGGGG |
AGGGG |
6: 113,474,641 (GRCm39) |
|
probably null |
Het |
Rfx6 |
T |
A |
10: 51,602,842 (GRCm39) |
H786Q |
probably damaging |
Het |
Scn4a |
A |
C |
11: 106,212,883 (GRCm39) |
L1374R |
possibly damaging |
Het |
Slc16a9 |
C |
T |
10: 70,110,786 (GRCm39) |
T124M |
probably damaging |
Het |
Slc46a2 |
A |
T |
4: 59,913,818 (GRCm39) |
F368L |
probably damaging |
Het |
St18 |
T |
A |
1: 6,898,010 (GRCm39) |
I604K |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,548,497 (GRCm39) |
V31935A |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,584,974 (GRCm39) |
H549R |
probably benign |
Het |
Zfp575 |
G |
A |
7: 24,285,440 (GRCm39) |
S67L |
possibly damaging |
Het |
|
Other mutations in Vmn1r219 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02517:Vmn1r219
|
APN |
13 |
23,347,266 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03339:Vmn1r219
|
APN |
13 |
23,347,580 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0662:Vmn1r219
|
UTSW |
13 |
23,347,623 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1144:Vmn1r219
|
UTSW |
13 |
23,347,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R4762:Vmn1r219
|
UTSW |
13 |
23,346,999 (GRCm39) |
nonsense |
probably null |
|
R5311:Vmn1r219
|
UTSW |
13 |
23,347,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R6488:Vmn1r219
|
UTSW |
13 |
23,347,135 (GRCm39) |
missense |
probably benign |
0.02 |
R7157:Vmn1r219
|
UTSW |
13 |
23,347,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R7305:Vmn1r219
|
UTSW |
13 |
23,347,314 (GRCm39) |
missense |
probably benign |
|
R7875:Vmn1r219
|
UTSW |
13 |
23,347,363 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8753:Vmn1r219
|
UTSW |
13 |
23,347,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R9290:Vmn1r219
|
UTSW |
13 |
23,347,399 (GRCm39) |
missense |
probably damaging |
1.00 |
R9345:Vmn1r219
|
UTSW |
13 |
23,346,769 (GRCm39) |
start gained |
probably benign |
|
R9353:Vmn1r219
|
UTSW |
13 |
23,346,902 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGTTTCCTCACTGTGGTC -3'
(R):5'- GAGGACACTTTGAGCAGCTC -3'
Sequencing Primer
(F):5'- TGGTCCAGGCCATCATCATCAG -3'
(R):5'- TCTCAGCTCAGGGGGAGTTC -3'
|
Posted On |
2015-04-30 |