Incidental Mutation 'R6471:Vmn1r169'
ID |
516695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r169
|
Ensembl Gene |
ENSMUSG00000094602 |
Gene Name |
vomeronasal 1 receptor 169 |
Synonyms |
Gm4232 |
MMRRC Submission |
044604-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R6471 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
23276610-23277524 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23276970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 121
(T121A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154343
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170290]
[ENSMUST00000226669]
[ENSMUST00000227547]
[ENSMUST00000227932]
[ENSMUST00000228832]
|
AlphaFold |
L7N275 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000170290
AA Change: T121A
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000126133 Gene: ENSMUSG00000094602 AA Change: T121A
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
8 |
295 |
4e-14 |
PFAM |
Pfam:V1R
|
41 |
295 |
2.1e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226669
AA Change: T121A
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227547
AA Change: T121A
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227932
AA Change: T121A
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228832
AA Change: T121A
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.6%
|
Validation Efficiency |
97% (29/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Birc2 |
A |
G |
9: 7,857,421 (GRCm39) |
S351P |
probably benign |
Het |
Car9 |
T |
C |
4: 43,511,938 (GRCm39) |
V319A |
probably damaging |
Het |
Ccdc86 |
A |
G |
19: 10,926,243 (GRCm39) |
S119P |
unknown |
Het |
Ciao2a |
T |
A |
9: 66,034,139 (GRCm39) |
V4E |
possibly damaging |
Het |
Cideb |
T |
C |
14: 55,995,409 (GRCm39) |
R26G |
probably benign |
Het |
Clip1 |
A |
G |
5: 123,778,612 (GRCm39) |
V437A |
probably damaging |
Het |
Cobll1 |
A |
G |
2: 64,938,228 (GRCm39) |
S352P |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Exoc3l |
A |
G |
8: 106,017,166 (GRCm39) |
V607A |
probably damaging |
Het |
Fam227b |
A |
T |
2: 125,962,985 (GRCm39) |
V177D |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Gdap1 |
T |
A |
1: 17,230,249 (GRCm39) |
N227K |
possibly damaging |
Het |
Glod4 |
A |
T |
11: 76,124,744 (GRCm39) |
F185L |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Lrrc37 |
T |
A |
11: 103,510,448 (GRCm39) |
|
probably benign |
Het |
Map3k19 |
C |
T |
1: 127,744,991 (GRCm39) |
V1488M |
probably damaging |
Het |
Pak5 |
A |
T |
2: 135,958,110 (GRCm39) |
M326K |
probably benign |
Het |
Peak1 |
A |
G |
9: 56,165,543 (GRCm39) |
L795P |
probably damaging |
Het |
Plcg1 |
A |
G |
2: 160,595,630 (GRCm39) |
D526G |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,582,563 (GRCm39) |
I1492V |
probably damaging |
Het |
Rbfa |
G |
T |
18: 80,243,673 (GRCm39) |
S31* |
probably null |
Het |
Rnft1 |
T |
C |
11: 86,382,508 (GRCm39) |
Y244H |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
Slc6a3 |
G |
A |
13: 73,693,003 (GRCm39) |
G208R |
probably benign |
Het |
Tex15 |
G |
T |
8: 34,071,762 (GRCm39) |
Q2436H |
probably damaging |
Het |
Ttbk1 |
A |
G |
17: 46,778,203 (GRCm39) |
L613P |
probably benign |
Het |
Tuba1b |
T |
C |
15: 98,830,328 (GRCm39) |
K164R |
probably benign |
Het |
Usp9y |
A |
G |
Y: 1,384,511 (GRCm39) |
L669P |
probably damaging |
Homo |
Vmn2r51 |
A |
C |
7: 9,836,510 (GRCm39) |
D90E |
possibly damaging |
Het |
Zfp318 |
A |
G |
17: 46,710,431 (GRCm39) |
H718R |
probably benign |
Het |
Zfp93 |
T |
C |
7: 23,972,754 (GRCm39) |
Y33H |
probably damaging |
Het |
|
Other mutations in Vmn1r169 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00897:Vmn1r169
|
APN |
7 |
23,277,019 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01019:Vmn1r169
|
APN |
7 |
23,276,611 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
IGL01667:Vmn1r169
|
APN |
7 |
23,277,225 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02246:Vmn1r169
|
APN |
7 |
23,276,661 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03303:Vmn1r169
|
APN |
7 |
23,277,434 (GRCm39) |
missense |
probably benign |
0.40 |
R1345:Vmn1r169
|
UTSW |
7 |
23,277,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R7120:Vmn1r169
|
UTSW |
7 |
23,277,444 (GRCm39) |
missense |
probably benign |
0.00 |
R7268:Vmn1r169
|
UTSW |
7 |
23,276,853 (GRCm39) |
missense |
probably benign |
0.00 |
R7541:Vmn1r169
|
UTSW |
7 |
23,277,412 (GRCm39) |
missense |
probably benign |
0.04 |
R8782:Vmn1r169
|
UTSW |
7 |
23,277,403 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8946:Vmn1r169
|
UTSW |
7 |
23,276,640 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9277:Vmn1r169
|
UTSW |
7 |
23,277,390 (GRCm39) |
missense |
probably benign |
0.19 |
R9408:Vmn1r169
|
UTSW |
7 |
23,277,342 (GRCm39) |
missense |
probably damaging |
1.00 |
R9458:Vmn1r169
|
UTSW |
7 |
23,276,628 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTAGCCAACTTAGCTTTGGG -3'
(R):5'- AAGATGCGCATGCCTATACTG -3'
Sequencing Primer
(F):5'- GCCAACTTAGCTTTGGGCAATAC -3'
(R):5'- CATGCCTATACTGAAACCAGTAGTGG -3'
|
Posted On |
2018-05-21 |