Incidental Mutation 'R1536:Vmn2r3'
| ID |
169513 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r3
|
| Ensembl Gene |
ENSMUSG00000091572 |
| Gene Name |
vomeronasal 2, receptor 3 |
| Synonyms |
EG637004 |
| MMRRC Submission |
039575-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1536 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64166225-64197130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64182538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 387
(D387V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170244]
[ENSMUST00000176328]
|
| AlphaFold |
H3BJ88 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170244
AA Change: D359V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126165
Gene: ENSMUSG00000091572
AA Change: D359V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
64 |
479 |
4e-64 |
PFAM |
|
Pfam:NCD3G
|
521 |
574 |
1.1e-17 |
PFAM |
|
Pfam:7tm_3
|
605 |
842 |
2.9e-75 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176328
AA Change: D387V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134891
Gene: ENSMUSG00000091572
AA Change: D387V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
92 |
507 |
9.5e-66 |
PFAM |
|
Pfam:NCD3G
|
549 |
602 |
8.8e-17 |
PFAM |
|
Pfam:7tm_3
|
635 |
869 |
8.5e-48 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,118,524 (GRCm39) |
I3F |
probably benign |
Het |
| 4930590J08Rik |
A |
G |
6: 91,894,016 (GRCm39) |
N211S |
probably benign |
Het |
| A2ml1 |
A |
T |
6: 128,524,196 (GRCm39) |
Y1145* |
probably null |
Het |
| Abca7 |
A |
G |
10: 79,850,064 (GRCm39) |
D1972G |
probably benign |
Het |
| Adamts19 |
A |
T |
18: 59,185,687 (GRCm39) |
D1187V |
probably damaging |
Het |
| Adcy6 |
G |
C |
15: 98,497,888 (GRCm39) |
I421M |
probably damaging |
Het |
| Afap1 |
C |
A |
5: 36,131,835 (GRCm39) |
H387Q |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 131,516,302 (GRCm39) |
|
probably benign |
Het |
| Cbll1 |
T |
C |
12: 31,537,855 (GRCm39) |
D300G |
probably damaging |
Het |
| Cd200r4 |
A |
T |
16: 44,653,412 (GRCm39) |
T61S |
possibly damaging |
Het |
| Chmp4c |
G |
T |
3: 10,454,744 (GRCm39) |
V207L |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,976,321 (GRCm39) |
T413A |
possibly damaging |
Het |
| Cox7a2 |
T |
A |
9: 79,665,863 (GRCm39) |
|
probably null |
Het |
| Cwc27 |
A |
G |
13: 104,933,814 (GRCm39) |
L236P |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,299,453 (GRCm39) |
|
probably benign |
Het |
| Ear1 |
T |
A |
14: 44,056,583 (GRCm39) |
H95L |
probably damaging |
Het |
| Enpp1 |
T |
A |
10: 24,517,732 (GRCm39) |
H898L |
probably benign |
Het |
| Entpd5 |
G |
A |
12: 84,429,069 (GRCm39) |
R321* |
probably null |
Het |
| Ercc6l2 |
C |
A |
13: 63,972,685 (GRCm39) |
N177K |
possibly damaging |
Het |
| Ergic1 |
T |
C |
17: 26,860,680 (GRCm39) |
|
probably null |
Het |
| Erich6 |
A |
T |
3: 58,534,019 (GRCm39) |
I336N |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Galnt3 |
A |
T |
2: 65,914,550 (GRCm39) |
D622E |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,569 (GRCm39) |
T170S |
probably damaging |
Het |
| Gm5611 |
G |
A |
9: 16,941,903 (GRCm39) |
|
noncoding transcript |
Het |
| Gpc5 |
T |
A |
14: 115,636,662 (GRCm39) |
N448K |
probably benign |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Maco1 |
A |
G |
4: 134,531,818 (GRCm39) |
V617A |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,978,271 (GRCm39) |
T338A |
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,272,864 (GRCm39) |
S94T |
probably benign |
Het |
| Muc3a |
A |
T |
5: 137,244,538 (GRCm39) |
S205T |
unknown |
Het |
| Nav2 |
C |
A |
7: 49,195,682 (GRCm39) |
D1019E |
probably damaging |
Het |
| Neurl4 |
T |
A |
11: 69,794,252 (GRCm39) |
L236* |
probably null |
Het |
| Or13c25 |
A |
G |
4: 52,911,260 (GRCm39) |
V178A |
probably benign |
Het |
| Plcxd3 |
T |
C |
15: 4,546,093 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
T |
C |
19: 46,059,965 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
T |
A |
4: 104,932,647 (GRCm39) |
N67I |
probably damaging |
Het |
| Prom1 |
T |
A |
5: 44,175,695 (GRCm39) |
Y508F |
probably benign |
Het |
| Prx |
A |
G |
7: 27,216,683 (GRCm39) |
M534V |
probably damaging |
Het |
| Rps6kc1 |
C |
T |
1: 190,603,965 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 109,977,250 (GRCm39) |
Y628C |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,069,196 (GRCm39) |
Q448L |
probably damaging |
Het |
| Stk35 |
T |
C |
2: 129,653,155 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,713,836 (GRCm39) |
R234S |
probably damaging |
Het |
| Tifab |
A |
G |
13: 56,324,101 (GRCm39) |
V114A |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,055,975 (GRCm39) |
M49T |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,511,545 (GRCm39) |
L235P |
possibly damaging |
Het |
| Trim43b |
A |
T |
9: 88,967,411 (GRCm39) |
C407* |
probably null |
Het |
| Txndc17 |
C |
A |
11: 72,098,533 (GRCm39) |
F28L |
probably damaging |
Het |
| Vmn2r27 |
T |
C |
6: 124,177,649 (GRCm39) |
R452G |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,875,712 (GRCm39) |
I2699T |
probably damaging |
Het |
| Zfp944 |
G |
T |
17: 22,558,697 (GRCm39) |
Y183* |
probably null |
Het |
|
| Other mutations in Vmn2r3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Vmn2r3
|
APN |
3 |
64,167,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01468:Vmn2r3
|
APN |
3 |
64,182,382 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02032:Vmn2r3
|
APN |
3 |
64,182,476 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02405:Vmn2r3
|
APN |
3 |
64,178,620 (GRCm39) |
splice site |
probably benign |
|
|
IGL02640:Vmn2r3
|
APN |
3 |
64,194,816 (GRCm39) |
missense |
probably benign |
|
|
IGL02719:Vmn2r3
|
APN |
3 |
64,183,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02746:Vmn2r3
|
APN |
3 |
64,167,239 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02952:Vmn2r3
|
APN |
3 |
64,186,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03390:Vmn2r3
|
APN |
3 |
64,182,767 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
G1citation:Vmn2r3
|
UTSW |
3 |
64,194,876 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0023:Vmn2r3
|
UTSW |
3 |
64,182,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0433:Vmn2r3
|
UTSW |
3 |
64,183,054 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0647:Vmn2r3
|
UTSW |
3 |
64,183,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1071:Vmn2r3
|
UTSW |
3 |
64,182,697 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1806:Vmn2r3
|
UTSW |
3 |
64,194,810 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1806:Vmn2r3
|
UTSW |
3 |
64,182,893 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1852:Vmn2r3
|
UTSW |
3 |
64,166,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Vmn2r3
|
UTSW |
3 |
64,166,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Vmn2r3
|
UTSW |
3 |
64,182,493 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2240:Vmn2r3
|
UTSW |
3 |
64,166,483 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2446:Vmn2r3
|
UTSW |
3 |
64,182,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4133:Vmn2r3
|
UTSW |
3 |
64,183,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4159:Vmn2r3
|
UTSW |
3 |
64,194,850 (GRCm39) |
nonsense |
probably null |
|
|
R4494:Vmn2r3
|
UTSW |
3 |
64,182,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Vmn2r3
|
UTSW |
3 |
64,183,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4895:Vmn2r3
|
UTSW |
3 |
64,167,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4912:Vmn2r3
|
UTSW |
3 |
64,166,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5018:Vmn2r3
|
UTSW |
3 |
64,178,774 (GRCm39) |
missense |
probably benign |
|
|
R5033:Vmn2r3
|
UTSW |
3 |
64,167,220 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5126:Vmn2r3
|
UTSW |
3 |
64,166,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5148:Vmn2r3
|
UTSW |
3 |
64,186,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Vmn2r3
|
UTSW |
3 |
64,166,978 (GRCm39) |
nonsense |
probably null |
|
|
R5785:Vmn2r3
|
UTSW |
3 |
64,166,444 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5905:Vmn2r3
|
UTSW |
3 |
64,182,698 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5992:Vmn2r3
|
UTSW |
3 |
64,167,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6028:Vmn2r3
|
UTSW |
3 |
64,182,698 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6331:Vmn2r3
|
UTSW |
3 |
64,186,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6378:Vmn2r3
|
UTSW |
3 |
64,182,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6775:Vmn2r3
|
UTSW |
3 |
64,183,039 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6822:Vmn2r3
|
UTSW |
3 |
64,194,876 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6826:Vmn2r3
|
UTSW |
3 |
64,182,327 (GRCm39) |
nonsense |
probably null |
|
|
R6886:Vmn2r3
|
UTSW |
3 |
64,166,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6971:Vmn2r3
|
UTSW |
3 |
64,166,668 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7154:Vmn2r3
|
UTSW |
3 |
64,194,732 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7192:Vmn2r3
|
UTSW |
3 |
64,167,364 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7282:Vmn2r3
|
UTSW |
3 |
64,168,825 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7472:Vmn2r3
|
UTSW |
3 |
64,182,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7563:Vmn2r3
|
UTSW |
3 |
64,182,770 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7726:Vmn2r3
|
UTSW |
3 |
64,182,939 (GRCm39) |
nonsense |
probably null |
|
|
R7966:Vmn2r3
|
UTSW |
3 |
64,186,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8025:Vmn2r3
|
UTSW |
3 |
64,182,871 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8050:Vmn2r3
|
UTSW |
3 |
64,178,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8300:Vmn2r3
|
UTSW |
3 |
64,182,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8402:Vmn2r3
|
UTSW |
3 |
64,178,617 (GRCm39) |
splice site |
probably benign |
|
|
R8486:Vmn2r3
|
UTSW |
3 |
64,186,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Vmn2r3
|
UTSW |
3 |
64,182,311 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8678:Vmn2r3
|
UTSW |
3 |
64,166,896 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8885:Vmn2r3
|
UTSW |
3 |
64,182,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8886:Vmn2r3
|
UTSW |
3 |
64,194,892 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8905:Vmn2r3
|
UTSW |
3 |
64,166,695 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8937:Vmn2r3
|
UTSW |
3 |
64,166,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Vmn2r3
|
UTSW |
3 |
64,168,803 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9172:Vmn2r3
|
UTSW |
3 |
64,186,403 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9485:Vmn2r3
|
UTSW |
3 |
64,183,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9575:Vmn2r3
|
UTSW |
3 |
64,178,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9618:Vmn2r3
|
UTSW |
3 |
64,178,724 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0022:Vmn2r3
|
UTSW |
3 |
64,182,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Vmn2r3
|
UTSW |
3 |
64,178,669 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACCCAGACAAGGTTTGATGC -3'
(R):5'- GATAGCCACCGAAGCCTGGATTAC -3'
Sequencing Primer
(F):5'- CTCTGATTAAACGGTCCAAGC -3'
(R):5'- GAAGCCTGGATTACCTCAGCTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation