Incidental Mutation 'IGL01636:Vmn2r4'
ID |
92974 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn2r4
|
Ensembl Gene |
ENSMUSG00000092049 |
Gene Name |
vomeronasal 2, receptor 4 |
Synonyms |
EG637053 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
IGL01636
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
64295982-64322741 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 64313657 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 441
(D441E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135228
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170280]
[ENSMUST00000175724]
|
AlphaFold |
K7N784 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000170280
AA Change: D352E
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000127513 Gene: ENSMUSG00000092049 AA Change: D352E
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
1 |
416 |
2.7e-72 |
PFAM |
Pfam:Peripla_BP_6
|
61 |
240 |
1.9e-9 |
PFAM |
Pfam:NCD3G
|
458 |
511 |
1.1e-17 |
PFAM |
Pfam:7tm_3
|
542 |
779 |
1.8e-75 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175724
AA Change: D441E
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000135228 Gene: ENSMUSG00000092049 AA Change: D441E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
88 |
505 |
2.3e-75 |
PFAM |
Pfam:NCD3G
|
547 |
600 |
4.7e-17 |
PFAM |
Pfam:7tm_3
|
633 |
867 |
8.2e-47 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
Adgrd1 |
G |
T |
5: 129,219,516 (GRCm39) |
|
probably benign |
Het |
Bmp7 |
T |
C |
2: 172,717,001 (GRCm39) |
|
probably benign |
Het |
Ccdc54 |
A |
G |
16: 50,410,277 (GRCm39) |
*330Q |
probably null |
Het |
Chd5 |
A |
T |
4: 152,469,110 (GRCm39) |
K1812* |
probably null |
Het |
Cnga3 |
T |
A |
1: 37,299,874 (GRCm39) |
I236N |
possibly damaging |
Het |
Ddost |
T |
G |
4: 138,036,707 (GRCm39) |
D135E |
possibly damaging |
Het |
Dicer1 |
T |
C |
12: 104,688,500 (GRCm39) |
D359G |
probably damaging |
Het |
Dnah17 |
A |
C |
11: 117,931,882 (GRCm39) |
S3697A |
probably benign |
Het |
Dnttip2 |
G |
A |
3: 122,076,123 (GRCm39) |
G685D |
possibly damaging |
Het |
Dst |
T |
G |
1: 34,254,650 (GRCm39) |
S4552R |
probably damaging |
Het |
Ebf2 |
G |
A |
14: 67,476,927 (GRCm39) |
E157K |
probably damaging |
Het |
Ehbp1 |
C |
T |
11: 22,039,584 (GRCm39) |
V839M |
probably benign |
Het |
Ehmt1 |
G |
T |
2: 24,729,620 (GRCm39) |
T639K |
probably damaging |
Het |
Esyt2 |
T |
C |
12: 116,329,550 (GRCm39) |
|
probably null |
Het |
Etv6 |
T |
C |
6: 134,225,350 (GRCm39) |
S194P |
probably benign |
Het |
Fam184b |
T |
C |
5: 45,741,637 (GRCm39) |
H198R |
probably benign |
Het |
Fam210b |
T |
C |
2: 172,193,460 (GRCm39) |
F91S |
probably damaging |
Het |
Fam81a |
G |
A |
9: 70,006,434 (GRCm39) |
Q193* |
probably null |
Het |
Fto |
A |
G |
8: 92,135,969 (GRCm39) |
D79G |
probably damaging |
Het |
Haspin |
C |
T |
11: 73,028,231 (GRCm39) |
R286H |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,455,984 (GRCm39) |
C5312Y |
probably damaging |
Het |
Ik |
T |
A |
18: 36,884,254 (GRCm39) |
D245E |
possibly damaging |
Het |
Itga1 |
A |
G |
13: 115,143,484 (GRCm39) |
V349A |
possibly damaging |
Het |
Kdm8 |
T |
C |
7: 125,060,377 (GRCm39) |
V400A |
probably damaging |
Het |
Larp1b |
G |
T |
3: 40,924,913 (GRCm39) |
R177L |
probably benign |
Het |
Lifr |
T |
G |
15: 7,208,499 (GRCm39) |
|
probably benign |
Het |
Lrrn2 |
T |
C |
1: 132,864,959 (GRCm39) |
L8P |
possibly damaging |
Het |
Marcksl1 |
T |
A |
4: 129,408,587 (GRCm39) |
D55E |
probably benign |
Het |
Med12 |
C |
A |
X: 100,318,795 (GRCm39) |
S74R |
probably damaging |
Het |
Mtarc2 |
T |
C |
1: 184,564,838 (GRCm39) |
K231E |
probably benign |
Het |
Or52s1 |
C |
A |
7: 102,861,384 (GRCm39) |
R95S |
probably benign |
Het |
Or6c35 |
A |
T |
10: 129,168,752 (GRCm39) |
M1L |
probably damaging |
Het |
Or7e170 |
A |
G |
9: 19,795,484 (GRCm39) |
V39A |
probably benign |
Het |
Or8k39 |
G |
A |
2: 86,563,945 (GRCm39) |
Q4* |
probably null |
Het |
Orc3 |
A |
C |
4: 34,595,096 (GRCm39) |
L233R |
probably damaging |
Het |
Pik3cd |
A |
G |
4: 149,738,772 (GRCm39) |
M715T |
possibly damaging |
Het |
Prss43 |
T |
A |
9: 110,656,505 (GRCm39) |
L64Q |
possibly damaging |
Het |
Pyroxd2 |
C |
A |
19: 42,726,771 (GRCm39) |
G209V |
probably benign |
Het |
Rab3b |
A |
G |
4: 108,797,916 (GRCm39) |
D198G |
possibly damaging |
Het |
Rrbp1 |
A |
T |
2: 143,789,815 (GRCm39) |
|
probably benign |
Het |
Smg6 |
T |
C |
11: 74,825,929 (GRCm39) |
|
probably null |
Het |
Ssrp1 |
T |
C |
2: 84,871,443 (GRCm39) |
|
probably benign |
Het |
Strip2 |
C |
A |
6: 29,931,192 (GRCm39) |
T381K |
probably benign |
Het |
Svep1 |
A |
T |
4: 58,116,622 (GRCm39) |
L876Q |
possibly damaging |
Het |
Tle4 |
T |
C |
19: 14,429,897 (GRCm39) |
I625V |
probably damaging |
Het |
Tnfrsf23 |
T |
C |
7: 143,233,736 (GRCm39) |
T81A |
probably damaging |
Het |
Ttc41 |
A |
G |
10: 86,612,542 (GRCm39) |
K1272E |
probably benign |
Het |
Usp3 |
A |
G |
9: 66,469,834 (GRCm39) |
|
probably null |
Het |
Vmn1r121 |
C |
T |
7: 20,832,282 (GRCm39) |
V53M |
probably benign |
Het |
Vmn1r65 |
A |
T |
7: 6,011,720 (GRCm39) |
S171R |
probably benign |
Het |
Vps13d |
A |
T |
4: 144,801,618 (GRCm39) |
H2353Q |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,435,794 (GRCm39) |
S1835P |
possibly damaging |
Het |
|
Other mutations in Vmn2r4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01310:Vmn2r4
|
APN |
3 |
64,317,200 (GRCm39) |
splice site |
probably null |
|
IGL01448:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01452:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01454:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01456:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01463:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01467:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01468:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01470:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01476:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01481:Vmn2r4
|
APN |
3 |
64,313,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01534:Vmn2r4
|
APN |
3 |
64,313,844 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01879:Vmn2r4
|
APN |
3 |
64,298,431 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02147:Vmn2r4
|
APN |
3 |
64,305,782 (GRCm39) |
splice site |
probably benign |
|
IGL02276:Vmn2r4
|
APN |
3 |
64,313,877 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02432:Vmn2r4
|
APN |
3 |
64,313,821 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02533:Vmn2r4
|
APN |
3 |
64,305,840 (GRCm39) |
nonsense |
probably null |
|
IGL02655:Vmn2r4
|
APN |
3 |
64,305,886 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02666:Vmn2r4
|
APN |
3 |
64,296,433 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02902:Vmn2r4
|
APN |
3 |
64,314,337 (GRCm39) |
missense |
probably benign |
0.22 |
IGL03189:Vmn2r4
|
APN |
3 |
64,296,589 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03250:Vmn2r4
|
APN |
3 |
64,314,063 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03271:Vmn2r4
|
APN |
3 |
64,305,850 (GRCm39) |
missense |
probably benign |
0.01 |
R0310:Vmn2r4
|
UTSW |
3 |
64,296,855 (GRCm39) |
nonsense |
probably null |
|
R0504:Vmn2r4
|
UTSW |
3 |
64,296,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R1546:Vmn2r4
|
UTSW |
3 |
64,314,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R1562:Vmn2r4
|
UTSW |
3 |
64,296,865 (GRCm39) |
missense |
probably damaging |
0.98 |
R1863:Vmn2r4
|
UTSW |
3 |
64,314,410 (GRCm39) |
missense |
probably benign |
0.33 |
R1873:Vmn2r4
|
UTSW |
3 |
64,298,479 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1939:Vmn2r4
|
UTSW |
3 |
64,305,976 (GRCm39) |
missense |
probably benign |
0.00 |
R2103:Vmn2r4
|
UTSW |
3 |
64,322,704 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3083:Vmn2r4
|
UTSW |
3 |
64,296,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R3687:Vmn2r4
|
UTSW |
3 |
64,296,896 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3707:Vmn2r4
|
UTSW |
3 |
64,296,895 (GRCm39) |
missense |
probably damaging |
0.99 |
R3963:Vmn2r4
|
UTSW |
3 |
64,322,572 (GRCm39) |
missense |
probably damaging |
0.99 |
R4428:Vmn2r4
|
UTSW |
3 |
64,322,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R4710:Vmn2r4
|
UTSW |
3 |
64,317,201 (GRCm39) |
critical splice donor site |
probably null |
|
R4737:Vmn2r4
|
UTSW |
3 |
64,317,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R4767:Vmn2r4
|
UTSW |
3 |
64,298,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R4776:Vmn2r4
|
UTSW |
3 |
64,296,082 (GRCm39) |
missense |
probably damaging |
0.96 |
R4834:Vmn2r4
|
UTSW |
3 |
64,317,484 (GRCm39) |
missense |
probably benign |
0.40 |
R4893:Vmn2r4
|
UTSW |
3 |
64,313,676 (GRCm39) |
missense |
probably damaging |
0.96 |
R4908:Vmn2r4
|
UTSW |
3 |
64,296,476 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5049:Vmn2r4
|
UTSW |
3 |
64,306,019 (GRCm39) |
splice site |
probably null |
|
R5092:Vmn2r4
|
UTSW |
3 |
64,298,373 (GRCm39) |
missense |
probably benign |
0.01 |
R5234:Vmn2r4
|
UTSW |
3 |
64,305,878 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5240:Vmn2r4
|
UTSW |
3 |
64,314,358 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5704:Vmn2r4
|
UTSW |
3 |
64,317,370 (GRCm39) |
missense |
probably benign |
0.03 |
R5897:Vmn2r4
|
UTSW |
3 |
64,322,687 (GRCm39) |
nonsense |
probably null |
|
R5907:Vmn2r4
|
UTSW |
3 |
64,298,487 (GRCm39) |
missense |
probably damaging |
0.99 |
R5924:Vmn2r4
|
UTSW |
3 |
64,296,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R6145:Vmn2r4
|
UTSW |
3 |
64,314,364 (GRCm39) |
missense |
probably benign |
0.00 |
R6191:Vmn2r4
|
UTSW |
3 |
64,322,702 (GRCm39) |
missense |
probably benign |
0.34 |
R6192:Vmn2r4
|
UTSW |
3 |
64,322,699 (GRCm39) |
missense |
probably benign |
0.00 |
R6207:Vmn2r4
|
UTSW |
3 |
64,313,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R6457:Vmn2r4
|
UTSW |
3 |
64,317,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R6533:Vmn2r4
|
UTSW |
3 |
64,322,519 (GRCm39) |
missense |
probably benign |
|
R6545:Vmn2r4
|
UTSW |
3 |
64,313,777 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6594:Vmn2r4
|
UTSW |
3 |
64,296,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R7049:Vmn2r4
|
UTSW |
3 |
64,296,550 (GRCm39) |
missense |
probably benign |
0.14 |
R7150:Vmn2r4
|
UTSW |
3 |
64,305,898 (GRCm39) |
missense |
probably benign |
0.01 |
R7187:Vmn2r4
|
UTSW |
3 |
64,322,681 (GRCm39) |
missense |
probably benign |
0.00 |
R7363:Vmn2r4
|
UTSW |
3 |
64,314,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R7477:Vmn2r4
|
UTSW |
3 |
64,305,850 (GRCm39) |
missense |
probably benign |
0.01 |
R7675:Vmn2r4
|
UTSW |
3 |
64,322,657 (GRCm39) |
missense |
probably benign |
0.01 |
R7858:Vmn2r4
|
UTSW |
3 |
64,317,226 (GRCm39) |
missense |
probably benign |
0.00 |
R7888:Vmn2r4
|
UTSW |
3 |
64,313,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R8678:Vmn2r4
|
UTSW |
3 |
64,314,391 (GRCm39) |
missense |
probably benign |
|
R8743:Vmn2r4
|
UTSW |
3 |
64,317,247 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8841:Vmn2r4
|
UTSW |
3 |
64,314,058 (GRCm39) |
missense |
probably damaging |
0.97 |
R9671:Vmn2r4
|
UTSW |
3 |
64,317,271 (GRCm39) |
missense |
probably benign |
0.00 |
R9778:Vmn2r4
|
UTSW |
3 |
64,322,497 (GRCm39) |
missense |
probably benign |
0.15 |
X0019:Vmn2r4
|
UTSW |
3 |
64,314,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-12-09 |