Incidental Mutation 'R0578:Vmn2r19'
ID |
56304 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r19
|
Ensembl Gene |
ENSMUSG00000091260 |
Gene Name |
vomeronasal 2, receptor 19 |
Synonyms |
EG232358 |
MMRRC Submission |
038768-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R0578 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
123285292-123313496 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 123312931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 667
(V667A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073604
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073948]
|
AlphaFold |
G5E8G4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073948
AA Change: V667A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073604 Gene: ENSMUSG00000091260 AA Change: V667A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
81 |
476 |
2.9e-35 |
PFAM |
Pfam:NCD3G
|
518 |
571 |
8.3e-23 |
PFAM |
Pfam:7tm_3
|
603 |
839 |
7.2e-52 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
A |
G |
15: 81,943,556 (GRCm39) |
Y56C |
possibly damaging |
Het |
Abca5 |
A |
T |
11: 110,167,315 (GRCm39) |
C1500* |
probably null |
Het |
Acr |
C |
G |
15: 89,453,678 (GRCm39) |
H72Q |
probably damaging |
Het |
Adam18 |
T |
C |
8: 25,131,863 (GRCm39) |
D416G |
possibly damaging |
Het |
Afap1l2 |
T |
A |
19: 56,904,214 (GRCm39) |
Y691F |
probably benign |
Het |
Akna |
A |
G |
4: 63,289,147 (GRCm39) |
S1259P |
probably benign |
Het |
Atad2 |
G |
A |
15: 57,968,964 (GRCm39) |
T525I |
probably damaging |
Het |
Atp2a1 |
T |
G |
7: 126,049,315 (GRCm39) |
M576L |
probably benign |
Het |
B4galt6 |
T |
C |
18: 20,861,013 (GRCm39) |
|
probably benign |
Het |
Best3 |
A |
G |
10: 116,844,904 (GRCm39) |
D353G |
probably benign |
Het |
Btg3 |
A |
T |
16: 78,161,834 (GRCm39) |
D125E |
probably benign |
Het |
Cabin1 |
A |
T |
10: 75,549,444 (GRCm39) |
D1320E |
probably damaging |
Het |
Cachd1 |
A |
C |
4: 100,852,039 (GRCm39) |
|
probably benign |
Het |
Cad |
T |
C |
5: 31,216,120 (GRCm39) |
V151A |
probably benign |
Het |
Capns1 |
A |
T |
7: 29,893,453 (GRCm39) |
|
probably benign |
Het |
Catsperg2 |
T |
A |
7: 29,404,116 (GRCm39) |
T860S |
possibly damaging |
Het |
Ccdc61 |
T |
C |
7: 18,637,400 (GRCm39) |
T76A |
probably benign |
Het |
Cdipt |
T |
A |
7: 126,578,702 (GRCm39) |
|
probably null |
Het |
Cyp2d12 |
G |
A |
15: 82,440,584 (GRCm39) |
|
probably benign |
Het |
Dennd4c |
C |
A |
4: 86,730,659 (GRCm39) |
P852Q |
probably damaging |
Het |
Dsg2 |
G |
A |
18: 20,727,291 (GRCm39) |
V613I |
probably benign |
Het |
Dusp16 |
G |
C |
6: 134,695,284 (GRCm39) |
L516V |
probably damaging |
Het |
Eif2ak4 |
T |
G |
2: 118,305,472 (GRCm39) |
|
probably benign |
Het |
Faf2 |
C |
T |
13: 54,769,658 (GRCm39) |
A2V |
possibly damaging |
Het |
Gas2l3 |
A |
G |
10: 89,252,937 (GRCm39) |
I236T |
probably damaging |
Het |
Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
Got1 |
G |
T |
19: 43,504,222 (GRCm39) |
S66R |
probably benign |
Het |
Gpr149 |
T |
A |
3: 62,510,110 (GRCm39) |
H335L |
possibly damaging |
Het |
Hadhb |
A |
G |
5: 30,383,804 (GRCm39) |
I342M |
probably benign |
Het |
Helz |
T |
A |
11: 107,577,226 (GRCm39) |
V1859D |
unknown |
Het |
Htr1a |
T |
A |
13: 105,581,595 (GRCm39) |
N278K |
probably damaging |
Het |
Inppl1 |
T |
C |
7: 101,480,795 (GRCm39) |
E355G |
probably damaging |
Het |
Isl2 |
A |
G |
9: 55,452,319 (GRCm39) |
Y297C |
probably damaging |
Het |
Kat7 |
T |
C |
11: 95,182,350 (GRCm39) |
H250R |
probably benign |
Het |
Klhl30 |
A |
T |
1: 91,282,074 (GRCm39) |
D225V |
probably benign |
Het |
Mtch2 |
T |
C |
2: 90,683,174 (GRCm39) |
|
probably benign |
Het |
Muc4 |
C |
A |
16: 32,755,690 (GRCm38) |
|
probably benign |
Het |
Ncoa7 |
A |
C |
10: 30,577,913 (GRCm39) |
|
probably null |
Het |
Nuf2 |
T |
A |
1: 169,338,118 (GRCm39) |
|
probably benign |
Het |
Or5ak24 |
T |
C |
2: 85,261,017 (GRCm39) |
D52G |
probably benign |
Het |
Or6c8 |
A |
G |
10: 128,915,062 (GRCm39) |
Y257H |
probably damaging |
Het |
Pced1a |
T |
A |
2: 130,261,763 (GRCm39) |
S297C |
probably damaging |
Het |
Pi15 |
A |
T |
1: 17,673,073 (GRCm39) |
K91* |
probably null |
Het |
Pla2g4e |
C |
T |
2: 120,075,162 (GRCm39) |
|
probably benign |
Het |
Plce1 |
A |
T |
19: 38,766,383 (GRCm39) |
H2136L |
probably damaging |
Het |
Plec |
A |
G |
15: 76,061,084 (GRCm39) |
L2973P |
probably damaging |
Het |
Poln |
A |
G |
5: 34,171,682 (GRCm39) |
I695T |
probably damaging |
Het |
Pramel32 |
T |
A |
4: 88,552,376 (GRCm39) |
I2F |
probably benign |
Het |
R3hdm1 |
C |
T |
1: 128,159,174 (GRCm39) |
Q950* |
probably null |
Het |
Rxra |
C |
T |
2: 27,649,582 (GRCm39) |
A429V |
probably damaging |
Het |
Scnn1a |
G |
A |
6: 125,299,207 (GRCm39) |
G96S |
probably damaging |
Het |
Senp5 |
T |
A |
16: 31,808,163 (GRCm39) |
T337S |
possibly damaging |
Het |
Smg9 |
A |
G |
7: 24,114,468 (GRCm39) |
D269G |
probably damaging |
Het |
Srsf11 |
C |
T |
3: 157,717,704 (GRCm39) |
|
probably benign |
Het |
Tmtc1 |
C |
T |
6: 148,256,716 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Vmn2r19 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01407:Vmn2r19
|
APN |
6 |
123,306,826 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02294:Vmn2r19
|
APN |
6 |
123,306,937 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02442:Vmn2r19
|
APN |
6 |
123,286,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02871:Vmn2r19
|
APN |
6 |
123,313,042 (GRCm39) |
missense |
probably damaging |
1.00 |
H8562:Vmn2r19
|
UTSW |
6 |
123,292,861 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0025:Vmn2r19
|
UTSW |
6 |
123,308,506 (GRCm39) |
missense |
probably benign |
0.01 |
R0389:Vmn2r19
|
UTSW |
6 |
123,312,945 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0402:Vmn2r19
|
UTSW |
6 |
123,313,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R0411:Vmn2r19
|
UTSW |
6 |
123,286,703 (GRCm39) |
missense |
probably damaging |
0.98 |
R0554:Vmn2r19
|
UTSW |
6 |
123,313,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R1102:Vmn2r19
|
UTSW |
6 |
123,313,132 (GRCm39) |
missense |
probably benign |
0.28 |
R1652:Vmn2r19
|
UTSW |
6 |
123,292,656 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1663:Vmn2r19
|
UTSW |
6 |
123,313,411 (GRCm39) |
missense |
probably benign |
0.11 |
R1817:Vmn2r19
|
UTSW |
6 |
123,307,011 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1866:Vmn2r19
|
UTSW |
6 |
123,308,597 (GRCm39) |
critical splice donor site |
probably null |
|
R1928:Vmn2r19
|
UTSW |
6 |
123,308,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R1997:Vmn2r19
|
UTSW |
6 |
123,292,880 (GRCm39) |
missense |
probably damaging |
0.98 |
R2013:Vmn2r19
|
UTSW |
6 |
123,292,954 (GRCm39) |
missense |
probably benign |
0.01 |
R2015:Vmn2r19
|
UTSW |
6 |
123,292,954 (GRCm39) |
missense |
probably benign |
0.01 |
R2088:Vmn2r19
|
UTSW |
6 |
123,312,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R2126:Vmn2r19
|
UTSW |
6 |
123,293,033 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2128:Vmn2r19
|
UTSW |
6 |
123,285,289 (GRCm39) |
splice site |
probably null |
|
R2256:Vmn2r19
|
UTSW |
6 |
123,306,845 (GRCm39) |
missense |
probably benign |
0.20 |
R2517:Vmn2r19
|
UTSW |
6 |
123,306,937 (GRCm39) |
missense |
probably benign |
0.19 |
R3753:Vmn2r19
|
UTSW |
6 |
123,292,548 (GRCm39) |
missense |
possibly damaging |
0.80 |
R3817:Vmn2r19
|
UTSW |
6 |
123,286,601 (GRCm39) |
missense |
probably damaging |
1.00 |
R3929:Vmn2r19
|
UTSW |
6 |
123,292,587 (GRCm39) |
missense |
probably benign |
0.01 |
R3934:Vmn2r19
|
UTSW |
6 |
123,292,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R4232:Vmn2r19
|
UTSW |
6 |
123,306,871 (GRCm39) |
missense |
probably benign |
|
R4574:Vmn2r19
|
UTSW |
6 |
123,292,939 (GRCm39) |
missense |
probably benign |
0.01 |
R4886:Vmn2r19
|
UTSW |
6 |
123,286,800 (GRCm39) |
missense |
probably benign |
0.05 |
R4995:Vmn2r19
|
UTSW |
6 |
123,306,869 (GRCm39) |
missense |
probably benign |
0.00 |
R5107:Vmn2r19
|
UTSW |
6 |
123,286,602 (GRCm39) |
nonsense |
probably null |
|
R5232:Vmn2r19
|
UTSW |
6 |
123,312,916 (GRCm39) |
missense |
probably benign |
|
R6102:Vmn2r19
|
UTSW |
6 |
123,306,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R6105:Vmn2r19
|
UTSW |
6 |
123,293,054 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6280:Vmn2r19
|
UTSW |
6 |
123,313,212 (GRCm39) |
missense |
probably benign |
|
R6393:Vmn2r19
|
UTSW |
6 |
123,293,112 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6502:Vmn2r19
|
UTSW |
6 |
123,293,067 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6617:Vmn2r19
|
UTSW |
6 |
123,313,494 (GRCm39) |
makesense |
probably null |
|
R6742:Vmn2r19
|
UTSW |
6 |
123,306,917 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7662:Vmn2r19
|
UTSW |
6 |
123,308,521 (GRCm39) |
missense |
probably benign |
0.33 |
R8041:Vmn2r19
|
UTSW |
6 |
123,312,750 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8054:Vmn2r19
|
UTSW |
6 |
123,292,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R8074:Vmn2r19
|
UTSW |
6 |
123,312,904 (GRCm39) |
missense |
probably damaging |
0.96 |
R8267:Vmn2r19
|
UTSW |
6 |
123,313,221 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8287:Vmn2r19
|
UTSW |
6 |
123,308,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R8937:Vmn2r19
|
UTSW |
6 |
123,293,283 (GRCm39) |
critical splice donor site |
probably null |
|
R9058:Vmn2r19
|
UTSW |
6 |
123,313,021 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9119:Vmn2r19
|
UTSW |
6 |
123,292,527 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9384:Vmn2r19
|
UTSW |
6 |
123,292,923 (GRCm39) |
missense |
probably benign |
0.00 |
X0058:Vmn2r19
|
UTSW |
6 |
123,285,308 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Vmn2r19
|
UTSW |
6 |
123,285,298 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Vmn2r19
|
UTSW |
6 |
123,313,036 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGGGACACACCCATTGTTAGAGC -3'
(R):5'- AAGGTGGACCCCTCATTACACCAG -3'
Sequencing Primer
(F):5'- GGCCAAACTAGAACAGTCACT -3'
(R):5'- GAGGATGATTTGCCCAAACTCTG -3'
|
Posted On |
2013-07-11 |