Incidental Mutation 'R1293:Vmn1r53'
| ID |
150703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r53
|
| Ensembl Gene |
ENSMUSG00000057697 |
| Gene Name |
vomeronasal 1 receptor 53 |
| Synonyms |
VN5, V1rb3 |
| MMRRC Submission |
039359-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R1293 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
90200299-90201420 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90201196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 43
(N43Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076086]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076086
AA Change: N43Y
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000075455
Gene: ENSMUSG00000057697
AA Change: N43Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:V1R
|
38 |
302 |
1.4e-138 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204789
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
G |
A |
2: 155,393,141 (GRCm39) |
R289Q |
probably benign |
Het |
| Adgrl4 |
G |
A |
3: 151,213,081 (GRCm39) |
E374K |
probably benign |
Het |
| Ate1 |
G |
A |
7: 129,996,455 (GRCm39) |
R505C |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,330,685 (GRCm39) |
I101T |
probably benign |
Het |
| Dmtf1 |
T |
A |
5: 9,190,383 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
A |
11: 118,017,963 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
A |
G |
1: 21,048,996 (GRCm39) |
T470A |
probably damaging |
Het |
| Fam118b |
A |
T |
9: 35,132,721 (GRCm39) |
Y313N |
probably damaging |
Het |
| Gm10142 |
T |
C |
10: 77,551,869 (GRCm39) |
S77P |
probably benign |
Het |
| Kat8 |
T |
C |
7: 127,521,422 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,353,646 (GRCm39) |
|
probably null |
Het |
| Lrrc10 |
A |
G |
10: 116,881,838 (GRCm39) |
T171A |
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,133,926 (GRCm39) |
T137A |
probably benign |
Het |
| Med1 |
G |
A |
11: 98,047,862 (GRCm39) |
T978I |
possibly damaging |
Het |
| Muc6 |
C |
A |
7: 141,238,255 (GRCm39) |
C75F |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,341,058 (GRCm39) |
C28R |
probably damaging |
Het |
| Or2y12 |
G |
A |
11: 49,426,393 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,230,697 (GRCm39) |
|
probably null |
Het |
| Or7g30 |
A |
T |
9: 19,352,728 (GRCm39) |
E173V |
probably benign |
Het |
| Rsrc1 |
G |
A |
3: 67,263,612 (GRCm39) |
R324Q |
probably damaging |
Het |
| Samd9l |
G |
T |
6: 3,373,947 (GRCm39) |
P1105T |
possibly damaging |
Het |
| Sgcb |
C |
A |
5: 73,792,870 (GRCm39) |
V311F |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,915,451 (GRCm39) |
V1380A |
probably benign |
Het |
| Spred1 |
C |
T |
2: 117,007,889 (GRCm39) |
P265L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,235,190 (GRCm39) |
H3259Q |
probably damaging |
Het |
| Unc13c |
C |
T |
9: 73,481,356 (GRCm39) |
D1694N |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,280,750 (GRCm39) |
R2355G |
probably benign |
Het |
| Wtip |
T |
C |
7: 33,809,646 (GRCm39) |
S359G |
possibly damaging |
Het |
| Zfp984 |
T |
A |
4: 147,840,398 (GRCm39) |
K151M |
possibly damaging |
Het |
|
| Other mutations in Vmn1r53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03104:Vmn1r53
|
APN |
6 |
90,200,944 (GRCm39) |
nonsense |
probably null |
|
|
R0087:Vmn1r53
|
UTSW |
6 |
90,200,413 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0240:Vmn1r53
|
UTSW |
6 |
90,200,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Vmn1r53
|
UTSW |
6 |
90,200,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0361:Vmn1r53
|
UTSW |
6 |
90,201,064 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0481:Vmn1r53
|
UTSW |
6 |
90,200,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1464:Vmn1r53
|
UTSW |
6 |
90,200,914 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1464:Vmn1r53
|
UTSW |
6 |
90,200,914 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1901:Vmn1r53
|
UTSW |
6 |
90,201,268 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2508:Vmn1r53
|
UTSW |
6 |
90,200,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5428:Vmn1r53
|
UTSW |
6 |
90,200,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5649:Vmn1r53
|
UTSW |
6 |
90,200,742 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6365:Vmn1r53
|
UTSW |
6 |
90,201,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7410:Vmn1r53
|
UTSW |
6 |
90,200,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7608:Vmn1r53
|
UTSW |
6 |
90,201,104 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7673:Vmn1r53
|
UTSW |
6 |
90,200,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7951:Vmn1r53
|
UTSW |
6 |
90,201,132 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8492:Vmn1r53
|
UTSW |
6 |
90,200,394 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8936:Vmn1r53
|
UTSW |
6 |
90,200,571 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8995:Vmn1r53
|
UTSW |
6 |
90,200,757 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1177:Vmn1r53
|
UTSW |
6 |
90,201,093 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCCAAAGGACATTCAGCAGACAG -3'
(R):5'- TTTGGAGGTAGCCCGACAATGGTG -3'
Sequencing Primer
(F):5'- ACATTCAGCAGACAGGTAGC -3'
(R):5'- tgggacagtggggacag -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation