Incidental Mutation 'R0647:Vmn2r3'
| ID |
57245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r3
|
| Ensembl Gene |
ENSMUSG00000091572 |
| Gene Name |
vomeronasal 2, receptor 3 |
| Synonyms |
EG637004 |
| MMRRC Submission |
038832-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0647 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
64166225-64197130 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 64183046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 218
(I218F)
|
| 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: I190F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126165
Gene: ENSMUSG00000091572
AA Change: I190F
| 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: I218F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134891
Gene: ENSMUSG00000091572
AA Change: I218F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
C |
A |
11: 50,494,265 (GRCm39) |
T113K |
probably damaging |
Het |
| Adgre1 |
T |
A |
17: 57,718,003 (GRCm39) |
N338K |
probably damaging |
Het |
| Aggf1 |
A |
T |
13: 95,508,164 (GRCm39) |
|
probably null |
Het |
| Apc2 |
A |
T |
10: 80,140,762 (GRCm39) |
I206F |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,739,892 (GRCm39) |
|
probably null |
Het |
| Ccdc110 |
A |
C |
8: 46,396,425 (GRCm39) |
E772A |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,143,681 (GRCm39) |
F2977L |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,159,153 (GRCm39) |
Y2207* |
probably null |
Het |
| Cfap20dc |
T |
A |
14: 8,536,655 (GRCm38) |
D184V |
possibly damaging |
Het |
| Chd4 |
T |
A |
6: 125,086,086 (GRCm39) |
N908K |
probably damaging |
Het |
| Chst9 |
A |
G |
18: 15,585,726 (GRCm39) |
I279T |
probably damaging |
Het |
| Ctnna3 |
A |
T |
10: 63,656,203 (GRCm39) |
N261I |
probably benign |
Het |
| Dlgap2 |
A |
T |
8: 14,777,591 (GRCm39) |
S279C |
possibly damaging |
Het |
| Dock4 |
G |
A |
12: 40,760,883 (GRCm39) |
E524K |
probably damaging |
Het |
| Fabp12 |
T |
A |
3: 10,311,096 (GRCm39) |
N122I |
possibly damaging |
Het |
| Fam184b |
T |
C |
5: 45,741,932 (GRCm39) |
T100A |
probably benign |
Het |
| Fbxl5 |
T |
C |
5: 43,925,411 (GRCm39) |
D176G |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Foxe1 |
A |
G |
4: 46,344,477 (GRCm39) |
N95S |
possibly damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,814 (GRCm39) |
E1369G |
probably damaging |
Het |
| Frmpd4 |
C |
T |
X: 166,272,006 (GRCm39) |
E483K |
probably damaging |
Het |
| Gbp11 |
T |
C |
5: 105,478,830 (GRCm39) |
K203E |
possibly damaging |
Het |
| Hs3st6 |
C |
T |
17: 24,977,134 (GRCm39) |
R205C |
probably damaging |
Het |
| Ifitm10 |
C |
T |
7: 141,909,772 (GRCm39) |
S179N |
probably damaging |
Het |
| Irx2 |
A |
C |
13: 72,778,799 (GRCm39) |
N121T |
probably damaging |
Het |
| Itih1 |
A |
T |
14: 30,657,820 (GRCm39) |
V417E |
probably damaging |
Het |
| Itpr1 |
A |
C |
6: 108,360,659 (GRCm39) |
E695A |
probably damaging |
Het |
| Kif1c |
T |
A |
11: 70,616,967 (GRCm39) |
I755K |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,013,104 (GRCm39) |
E443G |
probably damaging |
Het |
| Lrp1 |
G |
C |
10: 127,407,346 (GRCm39) |
T1865R |
probably damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,628,473 (GRCm39) |
I273K |
possibly damaging |
Het |
| Ly9 |
T |
C |
1: 171,427,376 (GRCm39) |
Y393C |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,911,862 (GRCm39) |
V295A |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,117,132 (GRCm39) |
D269E |
probably damaging |
Het |
| Or1r1 |
G |
A |
11: 73,874,597 (GRCm39) |
A279V |
probably damaging |
Het |
| Or2t6 |
T |
G |
14: 14,175,858 (GRCm38) |
T75P |
probably benign |
Het |
| Or4k44 |
A |
G |
2: 111,367,704 (GRCm39) |
V310A |
probably benign |
Het |
| Or52u1 |
T |
G |
7: 104,237,322 (GRCm39) |
F104V |
probably damaging |
Het |
| Or5p50 |
T |
A |
7: 107,422,218 (GRCm39) |
I153F |
probably benign |
Het |
| Otud3 |
A |
G |
4: 138,640,948 (GRCm39) |
L64P |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,685,213 (GRCm39) |
H560L |
possibly damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,646,913 (GRCm39) |
V14A |
probably damaging |
Het |
| Prss3l |
A |
T |
6: 41,420,275 (GRCm39) |
F150L |
probably benign |
Het |
| Rbfox1 |
A |
T |
16: 7,042,248 (GRCm39) |
Q14L |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,084,650 (GRCm39) |
D665G |
probably benign |
Het |
| Rc3h2 |
C |
T |
2: 37,299,542 (GRCm39) |
V163M |
probably damaging |
Het |
| Sash1 |
T |
A |
10: 8,605,316 (GRCm39) |
R1025W |
probably damaging |
Het |
| Sgpl1 |
A |
G |
10: 60,949,267 (GRCm39) |
S146P |
probably damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,429,836 (GRCm39) |
D615N |
probably benign |
Het |
| Smap1 |
A |
G |
1: 23,892,559 (GRCm39) |
I135T |
probably damaging |
Het |
| Snapc3 |
A |
G |
4: 83,368,466 (GRCm39) |
D321G |
probably damaging |
Het |
| St6galnac4 |
C |
T |
2: 32,479,460 (GRCm39) |
R6C |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,934,977 (GRCm39) |
P153L |
probably benign |
Het |
| Tiprl |
A |
G |
1: 165,050,092 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
A |
G |
11: 115,687,621 (GRCm39) |
N1160S |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,019,036 (GRCm39) |
R168C |
possibly damaging |
Het |
| Txndc16 |
A |
T |
14: 45,406,732 (GRCm39) |
I241N |
probably damaging |
Het |
| Txndc16 |
T |
A |
14: 45,402,818 (GRCm39) |
R101* |
probably null |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,328 (GRCm39) |
S235P |
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,310,635 (GRCm39) |
M306L |
probably benign |
Het |
| Vmn1r23 |
T |
A |
6: 57,903,169 (GRCm39) |
Y203F |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,831,656 (GRCm39) |
C857R |
possibly damaging |
Het |
| Zfp493 |
A |
C |
13: 67,931,994 (GRCm39) |
K31T |
possibly damaging |
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 |
|
R1071:Vmn2r3
|
UTSW |
3 |
64,182,697 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1536:Vmn2r3
|
UTSW |
3 |
64,182,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGAATCACTTCCAGCACAAAGGGG -3'
(R):5'- TCAGGGGAGTCAACAATGTCCAGC -3'
Sequencing Primer
(F):5'- GCATAAAGCACAATGACTTTGGC -3'
(R):5'- GAGACATTCCTGACACTGCTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation