Incidental Mutation 'R2346:Vmn1r20'
| ID |
245947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r20
|
| Ensembl Gene |
ENSMUSG00000115253 |
| Gene Name |
vomeronasal 1 receptor 20 |
| Synonyms |
Gm5569 |
| MMRRC Submission |
040329-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.416)
|
| Stock # |
R2346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
57408676-57409587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57408931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 86
(M86V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176085]
[ENSMUST00000226808]
[ENSMUST00000227909]
|
| AlphaFold |
K7N778 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176085
AA Change: M86V
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134973
Gene: ENSMUSG00000093679
AA Change: M86V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
28 |
293 |
2.3e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226808
AA Change: M86V
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227909
AA Change: M86V
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (21/21) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| BC051665 |
T |
C |
13: 60,931,774 (GRCm39) |
|
probably benign |
Het |
| Ces1a |
C |
T |
8: 93,751,947 (GRCm39) |
V396M |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,378,852 (GRCm39) |
L137P |
probably damaging |
Het |
| Elf2 |
A |
G |
3: 51,164,865 (GRCm39) |
S380P |
probably benign |
Het |
| Fbxw15 |
T |
C |
9: 109,394,500 (GRCm39) |
Y105C |
probably damaging |
Het |
| Gm12588 |
T |
C |
11: 121,796,994 (GRCm39) |
Y285C |
probably benign |
Het |
| Gm21276 |
T |
A |
7: 38,467,575 (GRCm39) |
|
noncoding transcript |
Het |
| Kat2b |
A |
G |
17: 53,917,932 (GRCm39) |
N97S |
probably benign |
Het |
| Mus81 |
A |
G |
19: 5,534,991 (GRCm39) |
|
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or8a1b |
T |
C |
9: 37,622,661 (GRCm39) |
R305G |
possibly damaging |
Het |
| Pkhd1l1 |
C |
A |
15: 44,423,902 (GRCm39) |
A3148E |
possibly damaging |
Het |
| Prkar2b |
T |
C |
12: 32,022,149 (GRCm39) |
N212S |
probably benign |
Het |
| Rp1 |
T |
A |
1: 4,418,236 (GRCm39) |
T959S |
probably damaging |
Het |
| Samd4 |
G |
A |
14: 47,122,299 (GRCm39) |
G8R |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skiv2l-ps1 |
A |
G |
17: 34,989,076 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa1 |
A |
G |
4: 155,857,526 (GRCm39) |
Y91H |
probably benign |
Het |
| Zan |
A |
G |
5: 137,420,129 (GRCm39) |
S2843P |
unknown |
Het |
| Zbtb39 |
A |
T |
10: 127,577,450 (GRCm39) |
Q8L |
possibly damaging |
Het |
|
| Other mutations in Vmn1r20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01761:Vmn1r20
|
APN |
6 |
57,408,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02622:Vmn1r20
|
APN |
6 |
57,409,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02636:Vmn1r20
|
APN |
6 |
57,408,746 (GRCm39) |
missense |
probably benign |
|
|
R0006:Vmn1r20
|
UTSW |
6 |
57,409,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0079:Vmn1r20
|
UTSW |
6 |
57,408,777 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0200:Vmn1r20
|
UTSW |
6 |
57,409,084 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1675:Vmn1r20
|
UTSW |
6 |
57,408,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1734:Vmn1r20
|
UTSW |
6 |
57,409,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Vmn1r20
|
UTSW |
6 |
57,409,306 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2049:Vmn1r20
|
UTSW |
6 |
57,408,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2307:Vmn1r20
|
UTSW |
6 |
57,409,121 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4405:Vmn1r20
|
UTSW |
6 |
57,409,042 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4946:Vmn1r20
|
UTSW |
6 |
57,409,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5259:Vmn1r20
|
UTSW |
6 |
57,409,050 (GRCm39) |
nonsense |
probably null |
|
|
R5321:Vmn1r20
|
UTSW |
6 |
57,409,427 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5911:Vmn1r20
|
UTSW |
6 |
57,408,774 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6042:Vmn1r20
|
UTSW |
6 |
57,409,391 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6298:Vmn1r20
|
UTSW |
6 |
57,409,112 (GRCm39) |
missense |
probably benign |
|
|
R6314:Vmn1r20
|
UTSW |
6 |
57,409,042 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6331:Vmn1r20
|
UTSW |
6 |
57,408,655 (GRCm39) |
splice site |
probably null |
|
|
R6482:Vmn1r20
|
UTSW |
6 |
57,409,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9161:Vmn1r20
|
UTSW |
6 |
57,408,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9165:Vmn1r20
|
UTSW |
6 |
57,409,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGAATGTCCTTTATTTCCAAGCTGG -3'
(R):5'- AGATCCGGCTACTACTGTAGG -3'
Sequencing Primer
(F):5'- GACTTGGAGTCCTAGCAAATATGTC -3'
(R):5'- TCCGGCTACTACTGTAGGAAAAGC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation