Incidental Mutation 'R5616:Vmn1r42'
| ID |
439531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r42
|
| Ensembl Gene |
ENSMUSG00000068232 |
| Gene Name |
vomeronasal 1 receptor 42 |
| Synonyms |
V1ra6 |
| MMRRC Submission |
043159-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5616 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
89821500-89822597 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89822084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 162
(I162V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089419]
[ENSMUST00000226436]
[ENSMUST00000227279]
|
| AlphaFold |
Q8VBS7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089419
AA Change: I162V
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000086840
Gene: ENSMUSG00000068232
AA Change: I162V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
54 |
318 |
3.6e-132 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226436
AA Change: I162V
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227279
AA Change: I162V
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
T |
3: 121,566,009 (GRCm39) |
D443E |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,252,874 (GRCm39) |
D1037G |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,653,399 (GRCm39) |
L148* |
probably null |
Het |
| Cacna1e |
G |
A |
1: 154,317,940 (GRCm39) |
P1481S |
probably damaging |
Het |
| Cacna1h |
C |
A |
17: 25,596,641 (GRCm39) |
R117L |
probably damaging |
Het |
| Cct6b |
A |
T |
11: 82,632,175 (GRCm39) |
V271E |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,483 (GRCm39) |
S1450P |
probably damaging |
Het |
| Cul1 |
G |
A |
6: 47,500,722 (GRCm39) |
R707H |
probably damaging |
Het |
| Dcakd |
A |
G |
11: 102,885,831 (GRCm39) |
L191P |
possibly damaging |
Het |
| Dhx32 |
T |
C |
7: 133,322,957 (GRCm39) |
*612W |
probably null |
Het |
| Disp1 |
T |
A |
1: 182,869,913 (GRCm39) |
T836S |
probably benign |
Het |
| Dppa4 |
T |
A |
16: 48,111,393 (GRCm39) |
V126D |
probably damaging |
Het |
| Fam98b |
A |
G |
2: 117,098,267 (GRCm39) |
T246A |
possibly damaging |
Het |
| Fkbp4 |
A |
T |
6: 128,410,517 (GRCm39) |
V273E |
probably damaging |
Het |
| Gpr31b |
A |
G |
17: 13,270,831 (GRCm39) |
Y113H |
probably damaging |
Het |
| Gpr33 |
T |
C |
12: 52,070,377 (GRCm39) |
I221V |
probably damaging |
Het |
| Klhl1 |
A |
G |
14: 96,755,729 (GRCm39) |
F9L |
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,208,695 (GRCm39) |
N449K |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,492,647 (GRCm39) |
S1363P |
probably damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,145,366 (GRCm39) |
V60A |
probably benign |
Het |
| Matn3 |
A |
G |
12: 8,998,195 (GRCm39) |
H51R |
probably benign |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtrf1 |
T |
C |
14: 79,638,885 (GRCm39) |
C6R |
possibly damaging |
Het |
| Myh6 |
T |
C |
14: 55,194,038 (GRCm39) |
S784G |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,179,715 (GRCm39) |
Y401C |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,637,585 (GRCm39) |
E37G |
probably damaging |
Het |
| Pelp1 |
G |
A |
11: 70,285,688 (GRCm39) |
P727S |
possibly damaging |
Het |
| Prkca |
T |
C |
11: 107,869,169 (GRCm39) |
D472G |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,122,120 (GRCm38) |
H328R |
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,559,173 (GRCm39) |
E889K |
unknown |
Het |
| Rubcn |
T |
C |
16: 32,647,293 (GRCm39) |
D715G |
possibly damaging |
Het |
| Snurf |
C |
T |
7: 59,649,133 (GRCm39) |
E15K |
possibly damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,876,965 (GRCm39) |
|
probably benign |
Het |
| Srp72 |
T |
G |
5: 77,135,781 (GRCm39) |
L237R |
probably damaging |
Het |
| Syne3 |
T |
C |
12: 104,921,937 (GRCm39) |
E406G |
probably damaging |
Het |
| Tgm2 |
A |
G |
2: 157,970,640 (GRCm39) |
S340P |
probably damaging |
Het |
| Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,698,192 (GRCm39) |
|
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,657 (GRCm39) |
|
probably benign |
Het |
| Tsc22d2 |
G |
T |
3: 58,324,583 (GRCm39) |
|
probably benign |
Het |
| Vmn2r59 |
A |
G |
7: 41,708,191 (GRCm39) |
|
probably null |
Het |
| Wnt3 |
T |
C |
11: 103,703,596 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Vmn1r42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02055:Vmn1r42
|
APN |
6 |
89,822,571 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02151:Vmn1r42
|
APN |
6 |
89,822,023 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02158:Vmn1r42
|
APN |
6 |
89,822,296 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02731:Vmn1r42
|
APN |
6 |
89,822,407 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02738:Vmn1r42
|
APN |
6 |
89,821,630 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02817:Vmn1r42
|
APN |
6 |
89,822,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
volkan
|
UTSW |
6 |
89,821,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1131:Vmn1r42
|
UTSW |
6 |
89,822,551 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1500:Vmn1r42
|
UTSW |
6 |
89,822,483 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1557:Vmn1r42
|
UTSW |
6 |
89,821,733 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1561:Vmn1r42
|
UTSW |
6 |
89,822,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Vmn1r42
|
UTSW |
6 |
89,822,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Vmn1r42
|
UTSW |
6 |
89,822,059 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1574:Vmn1r42
|
UTSW |
6 |
89,822,059 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1857:Vmn1r42
|
UTSW |
6 |
89,821,597 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1858:Vmn1r42
|
UTSW |
6 |
89,821,597 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1916:Vmn1r42
|
UTSW |
6 |
89,821,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2284:Vmn1r42
|
UTSW |
6 |
89,821,681 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2912:Vmn1r42
|
UTSW |
6 |
89,821,688 (GRCm39) |
missense |
probably benign |
|
|
R4541:Vmn1r42
|
UTSW |
6 |
89,822,533 (GRCm39) |
missense |
probably benign |
|
|
R5085:Vmn1r42
|
UTSW |
6 |
89,821,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5384:Vmn1r42
|
UTSW |
6 |
89,822,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5647:Vmn1r42
|
UTSW |
6 |
89,822,314 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5867:Vmn1r42
|
UTSW |
6 |
89,821,761 (GRCm39) |
nonsense |
probably null |
|
|
R6569:Vmn1r42
|
UTSW |
6 |
89,822,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6852:Vmn1r42
|
UTSW |
6 |
89,821,769 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7054:Vmn1r42
|
UTSW |
6 |
89,822,051 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7399:Vmn1r42
|
UTSW |
6 |
89,822,495 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7958:Vmn1r42
|
UTSW |
6 |
89,822,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTAAGAGGGCTACCATGTAC -3'
(R):5'- GGGCTGGGATGACATCATATG -3'
Sequencing Primer
(F):5'- AGGGCTACCATGTACCAATTAG -3'
(R):5'- GTAAATTCCTTGTGTACCTGTACAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation