Incidental Mutation 'R4278:Vmn1r80'
| ID |
322765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r80
|
| Ensembl Gene |
ENSMUSG00000115744 |
| Gene Name |
vomeronasal 1 receptor 80 |
| Synonyms |
V1rg3 |
| MMRRC Submission |
068968-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R4278 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
11926892-11927818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 11927454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 188
(C188F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075053]
[ENSMUST00000227205]
[ENSMUST00000227471]
[ENSMUST00000227755]
[ENSMUST00000228028]
[ENSMUST00000228578]
|
| AlphaFold |
L7N1Z3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075053
AA Change: C188F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000074564
Gene: ENSMUSG00000115744
AA Change: C188F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
301 |
5.4e-11 |
PFAM |
|
Pfam:7tm_1
|
23 |
290 |
5.3e-7 |
PFAM |
|
Pfam:V1R
|
31 |
298 |
3e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227205
AA Change: C188F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227471
AA Change: C188F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227755
AA Change: C188F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228028
AA Change: C188F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228047
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228578
AA Change: C188F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228563
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anln |
A |
G |
9: 22,245,296 (GRCm39) |
|
probably null |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bltp3b |
T |
G |
10: 89,642,571 (GRCm39) |
|
probably null |
Het |
| Capza3 |
T |
A |
6: 139,987,786 (GRCm39) |
Y128* |
probably null |
Het |
| Ccdc187 |
T |
A |
2: 26,172,239 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,209,667 (GRCm39) |
R119G |
probably damaging |
Het |
| Espn |
T |
C |
4: 152,218,874 (GRCm39) |
D308G |
probably damaging |
Het |
| Gm9857 |
T |
C |
3: 108,847,419 (GRCm39) |
|
probably benign |
Het |
| Hhatl |
G |
A |
9: 121,613,285 (GRCm39) |
A470V |
probably benign |
Het |
| Igfals |
A |
T |
17: 25,100,191 (GRCm39) |
E427D |
probably benign |
Het |
| Il22ra1 |
C |
T |
4: 135,478,024 (GRCm39) |
A365V |
possibly damaging |
Het |
| Kctd6 |
G |
C |
14: 8,222,806 (GRCm38) |
R216P |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,098,512 (GRCm39) |
M1864L |
probably null |
Het |
| Mbd5 |
T |
G |
2: 49,162,305 (GRCm39) |
I37S |
probably damaging |
Het |
| Nsf |
C |
A |
11: 103,821,632 (GRCm39) |
A5S |
probably damaging |
Het |
| Nsun5 |
A |
G |
5: 135,398,914 (GRCm39) |
Y26C |
probably damaging |
Het |
| Or9q1 |
A |
G |
19: 13,805,793 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
C |
T |
11: 71,965,342 (GRCm39) |
V164I |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,532,637 (GRCm39) |
K117R |
probably benign |
Het |
| Ppp1r13b |
G |
T |
12: 111,796,818 (GRCm39) |
N908K |
probably damaging |
Het |
| Rapgef4 |
T |
A |
2: 72,028,739 (GRCm39) |
N385K |
possibly damaging |
Het |
| Rbp3 |
G |
A |
14: 33,680,607 (GRCm39) |
V1070I |
probably benign |
Het |
| Rhbdd3 |
C |
T |
11: 5,055,329 (GRCm39) |
T226I |
probably benign |
Het |
| Slc27a3 |
C |
T |
3: 90,296,495 (GRCm39) |
|
probably benign |
Het |
| Slc30a2 |
G |
A |
4: 134,073,360 (GRCm39) |
E136K |
probably null |
Het |
| Sptlc2 |
A |
C |
12: 87,382,925 (GRCm39) |
I393R |
probably benign |
Het |
| Tmem260 |
C |
T |
14: 48,715,093 (GRCm39) |
T249M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vwa2 |
C |
A |
19: 56,891,915 (GRCm39) |
Q283K |
probably benign |
Het |
| Zfp52 |
A |
G |
17: 21,782,132 (GRCm39) |
K660R |
probably benign |
Het |
|
| Other mutations in Vmn1r80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01610:Vmn1r80
|
APN |
7 |
11,927,307 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01652:Vmn1r80
|
APN |
7 |
11,927,063 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02102:Vmn1r80
|
APN |
7 |
11,927,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02165:Vmn1r80
|
APN |
7 |
11,927,379 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02328:Vmn1r80
|
APN |
7 |
11,927,405 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02336:Vmn1r80
|
APN |
7 |
11,927,181 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02606:Vmn1r80
|
APN |
7 |
11,926,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Vmn1r80
|
UTSW |
7 |
11,927,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0399:Vmn1r80
|
UTSW |
7 |
11,927,244 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1983:Vmn1r80
|
UTSW |
7 |
11,927,588 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2079:Vmn1r80
|
UTSW |
7 |
11,927,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4501:Vmn1r80
|
UTSW |
7 |
11,927,318 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5894:Vmn1r80
|
UTSW |
7 |
11,927,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5991:Vmn1r80
|
UTSW |
7 |
11,927,423 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6552:Vmn1r80
|
UTSW |
7 |
11,927,684 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7560:Vmn1r80
|
UTSW |
7 |
11,927,750 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7659:Vmn1r80
|
UTSW |
7 |
11,926,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8313:Vmn1r80
|
UTSW |
7 |
11,926,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9171:Vmn1r80
|
UTSW |
7 |
11,927,124 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1189:Vmn1r80
|
UTSW |
7 |
11,927,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGCCACCAAGTACCTTG -3'
(R):5'- TAACGATGGCCACCATGGAG -3'
Sequencing Primer
(F):5'- AAGTACCTTGGTCCCTCTTGC -3'
(R):5'- TGGCCACCATGGAGGAGAATG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation