Incidental Mutation 'R4501:Vmn1r80'
| ID |
331809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r80
|
| Ensembl Gene |
ENSMUSG00000115744 |
| Gene Name |
vomeronasal 1 receptor 80 |
| Synonyms |
V1rg3 |
| MMRRC Submission |
041753-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R4501 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
11926892-11927818 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 11927318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 143
(N143D)
|
| 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: N143D
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074564
Gene: ENSMUSG00000115744
AA Change: N143D
| 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: N143D
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227240
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227471
AA Change: N143D
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227755
AA Change: N143D
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228028
AA Change: N143D
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228047
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228578
AA Change: N143D
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228563
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
A |
G |
14: 54,924,044 (GRCm39) |
V65A |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,428,753 (GRCm39) |
L956S |
probably damaging |
Het |
| Atp2a1 |
G |
A |
7: 126,052,555 (GRCm39) |
T388I |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,919 (GRCm39) |
V389A |
probably benign |
Het |
| Cdh2 |
A |
G |
18: 16,762,642 (GRCm39) |
V434A |
possibly damaging |
Het |
| Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,368,485 (GRCm39) |
M1717L |
probably benign |
Het |
| Dusp6 |
T |
A |
10: 99,100,457 (GRCm39) |
L151Q |
probably benign |
Het |
| Hc |
A |
T |
2: 34,887,488 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,509,417 (GRCm39) |
S3644T |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,480,718 (GRCm39) |
I761T |
probably damaging |
Het |
| Mmd2 |
A |
G |
5: 142,560,965 (GRCm39) |
V90A |
probably benign |
Het |
| Ncf2 |
C |
G |
1: 152,710,784 (GRCm39) |
Q432E |
probably benign |
Het |
| Nxn |
T |
C |
11: 76,165,438 (GRCm39) |
E172G |
probably damaging |
Het |
| P2ry12 |
A |
G |
3: 59,125,078 (GRCm39) |
I199T |
probably damaging |
Het |
| Phldb3 |
A |
G |
7: 24,311,986 (GRCm39) |
E100G |
probably benign |
Het |
| Pidd1 |
A |
G |
7: 141,021,356 (GRCm39) |
|
probably benign |
Het |
| Pldi |
G |
T |
10: 60,764,188 (GRCm39) |
|
noncoding transcript |
Het |
| Plk5 |
T |
C |
10: 80,195,305 (GRCm39) |
C208R |
probably benign |
Het |
| Ptpn12 |
G |
T |
5: 21,224,278 (GRCm39) |
A105E |
probably damaging |
Het |
| Pusl1 |
T |
C |
4: 155,973,999 (GRCm39) |
T252A |
probably benign |
Het |
| Rpl13a |
T |
C |
7: 44,775,564 (GRCm39) |
H95R |
probably benign |
Het |
| Sh3d21 |
GAATCTCCTGGGAAAATC |
GAATC |
4: 126,056,652 (GRCm39) |
|
probably null |
Het |
| Slc30a4 |
A |
G |
2: 122,527,136 (GRCm39) |
I370T |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,326,168 (GRCm39) |
F565L |
probably damaging |
Het |
| Tdrd9 |
A |
G |
12: 112,009,243 (GRCm39) |
K1050E |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,613,324 (GRCm39) |
L494Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,624,991 (GRCm39) |
I13450L |
possibly damaging |
Het |
| Usp34 |
C |
A |
11: 23,351,529 (GRCm39) |
P1439Q |
probably damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Zbtb44 |
G |
A |
9: 30,965,462 (GRCm39) |
V291I |
probably damaging |
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 |
|
R4278:Vmn1r80
|
UTSW |
7 |
11,927,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CCACAGACACTGTCAGATTACG -3'
(R):5'- ATAGGCCATGAGACCCAGAC -3'
Sequencing Primer
(F):5'- GACACTGTCAGATTACGGATTAAAAG -3'
(R):5'- TGAGACCCAGACACAGTCCATC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation