Incidental Mutation 'IGL01356:Vmn2r124'
| ID |
75512 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn2r124
|
| Ensembl Gene |
ENSMUSG00000094396 |
| Gene Name |
vomeronasal 2, receptor 124 |
| Synonyms |
Vmn2r-ps113, Gm7196 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
IGL01356
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
18269746-18294482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 18293733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 607
(V607L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176802]
[ENSMUST00000231546]
|
| AlphaFold |
K7N789 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176802
AA Change: V607L
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135613
Gene: ENSMUSG00000094396
AA Change: V607L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
84 |
449 |
2.2e-37 |
PFAM |
|
Pfam:NCD3G
|
510 |
563 |
9.3e-21 |
PFAM |
|
Pfam:7tm_3
|
596 |
831 |
1.6e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231546
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA474408 |
T |
C |
7: 109,660,189 (GRCm39) |
|
probably benign |
Het |
| Acsl1 |
T |
C |
8: 46,964,500 (GRCm39) |
|
probably null |
Het |
| Adck2 |
T |
C |
6: 39,560,854 (GRCm39) |
V463A |
probably benign |
Het |
| Armh3 |
C |
T |
19: 45,954,742 (GRCm39) |
C149Y |
possibly damaging |
Het |
| B4galt4 |
T |
A |
16: 38,574,506 (GRCm39) |
I224N |
probably damaging |
Het |
| Caprin1 |
T |
C |
2: 103,605,801 (GRCm39) |
T396A |
probably benign |
Het |
| Cbx3 |
T |
C |
6: 51,452,281 (GRCm39) |
V32A |
probably damaging |
Het |
| Chd1 |
A |
T |
17: 15,970,127 (GRCm39) |
K960I |
probably damaging |
Het |
| Cldn4 |
A |
G |
5: 134,975,343 (GRCm39) |
I86T |
probably benign |
Het |
| Cst12 |
A |
C |
2: 148,631,468 (GRCm39) |
D50A |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,501,459 (GRCm39) |
Y1864H |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,658,155 (GRCm39) |
G1642E |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,619,341 (GRCm39) |
L241P |
probably damaging |
Het |
| Kdm1a |
C |
T |
4: 136,281,202 (GRCm39) |
R669H |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,601,876 (GRCm39) |
P455S |
probably damaging |
Het |
| Lrig1 |
A |
G |
6: 94,631,901 (GRCm39) |
Y100H |
probably benign |
Het |
| Lrig1 |
G |
A |
6: 94,586,874 (GRCm39) |
P601S |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,660,865 (GRCm39) |
D419G |
probably benign |
Het |
| Naca |
C |
T |
10: 127,877,584 (GRCm39) |
|
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,722 (GRCm39) |
L1094P |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,127,064 (GRCm39) |
N770K |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,800,000 (GRCm39) |
H987R |
possibly damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,324 (GRCm39) |
C111S |
probably damaging |
Het |
| Or5p63 |
T |
A |
7: 107,810,933 (GRCm39) |
I268F |
probably benign |
Het |
| Or7g26 |
T |
A |
9: 19,230,238 (GRCm39) |
M142K |
probably damaging |
Het |
| Pate13 |
T |
A |
9: 35,820,244 (GRCm39) |
C33* |
probably null |
Het |
| Plcg1 |
G |
T |
2: 160,595,813 (GRCm39) |
G561W |
probably damaging |
Het |
| Ripor3 |
T |
A |
2: 167,835,495 (GRCm39) |
M159L |
probably benign |
Het |
| Serpinb6a |
A |
G |
13: 34,109,400 (GRCm39) |
S111P |
possibly damaging |
Het |
| Tas1r3 |
A |
T |
4: 155,945,784 (GRCm39) |
H537Q |
probably benign |
Het |
| Tefm |
G |
A |
11: 80,028,823 (GRCm39) |
R43* |
probably null |
Het |
| Tiam1 |
A |
G |
16: 89,634,676 (GRCm39) |
V878A |
probably damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,947 (GRCm39) |
S243G |
probably damaging |
Het |
| Vps8 |
T |
G |
16: 21,336,107 (GRCm39) |
|
probably null |
Het |
| Ythdf2 |
A |
T |
4: 131,932,661 (GRCm39) |
D166E |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,434,694 (GRCm39) |
V2203A |
unknown |
Het |
|
| Other mutations in Vmn2r124 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00988:Vmn2r124
|
APN |
17 |
18,282,932 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01387:Vmn2r124
|
APN |
17 |
18,283,188 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01413:Vmn2r124
|
APN |
17 |
18,282,827 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01550:Vmn2r124
|
APN |
17 |
18,283,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01759:Vmn2r124
|
APN |
17 |
18,284,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01762:Vmn2r124
|
APN |
17 |
18,283,434 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02132:Vmn2r124
|
APN |
17 |
18,284,491 (GRCm39) |
splice site |
probably benign |
|
|
IGL02290:Vmn2r124
|
APN |
17 |
18,293,597 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02370:Vmn2r124
|
APN |
17 |
18,284,453 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02527:Vmn2r124
|
APN |
17 |
18,286,764 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4280001:Vmn2r124
|
UTSW |
17 |
18,283,487 (GRCm39) |
missense |
probably benign |
0.22 |
|
PIT4514001:Vmn2r124
|
UTSW |
17 |
18,293,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0362:Vmn2r124
|
UTSW |
17 |
18,284,486 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0401:Vmn2r124
|
UTSW |
17 |
18,284,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0513:Vmn2r124
|
UTSW |
17 |
18,293,991 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1139:Vmn2r124
|
UTSW |
17 |
18,294,052 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1513:Vmn2r124
|
UTSW |
17 |
18,283,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Vmn2r124
|
UTSW |
17 |
18,283,206 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1710:Vmn2r124
|
UTSW |
17 |
18,282,187 (GRCm39) |
splice site |
probably benign |
|
|
R1852:Vmn2r124
|
UTSW |
17 |
18,283,436 (GRCm39) |
missense |
probably benign |
|
|
R1860:Vmn2r124
|
UTSW |
17 |
18,269,759 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1953:Vmn2r124
|
UTSW |
17 |
18,283,122 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2233:Vmn2r124
|
UTSW |
17 |
18,269,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2234:Vmn2r124
|
UTSW |
17 |
18,269,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2235:Vmn2r124
|
UTSW |
17 |
18,269,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2397:Vmn2r124
|
UTSW |
17 |
18,269,859 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2519:Vmn2r124
|
UTSW |
17 |
18,294,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3845:Vmn2r124
|
UTSW |
17 |
18,293,953 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3846:Vmn2r124
|
UTSW |
17 |
18,293,953 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4594:Vmn2r124
|
UTSW |
17 |
18,294,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Vmn2r124
|
UTSW |
17 |
18,283,284 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4790:Vmn2r124
|
UTSW |
17 |
18,269,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4809:Vmn2r124
|
UTSW |
17 |
18,294,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5227:Vmn2r124
|
UTSW |
17 |
18,269,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5254:Vmn2r124
|
UTSW |
17 |
18,283,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5609:Vmn2r124
|
UTSW |
17 |
18,294,102 (GRCm39) |
missense |
probably benign |
|
|
R6145:Vmn2r124
|
UTSW |
17 |
18,283,113 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6181:Vmn2r124
|
UTSW |
17 |
18,294,019 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6271:Vmn2r124
|
UTSW |
17 |
18,283,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7297:Vmn2r124
|
UTSW |
17 |
18,293,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Vmn2r124
|
UTSW |
17 |
18,282,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7406:Vmn2r124
|
UTSW |
17 |
18,282,306 (GRCm39) |
missense |
unknown |
|
|
R7699:Vmn2r124
|
UTSW |
17 |
18,293,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7859:Vmn2r124
|
UTSW |
17 |
18,282,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8121:Vmn2r124
|
UTSW |
17 |
18,282,433 (GRCm39) |
missense |
probably benign |
|
|
R8138:Vmn2r124
|
UTSW |
17 |
18,283,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8756:Vmn2r124
|
UTSW |
17 |
18,294,094 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8796:Vmn2r124
|
UTSW |
17 |
18,282,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8841:Vmn2r124
|
UTSW |
17 |
18,283,299 (GRCm39) |
missense |
|
|
|
R8960:Vmn2r124
|
UTSW |
17 |
18,283,291 (GRCm39) |
nonsense |
probably null |
|
|
R8970:Vmn2r124
|
UTSW |
17 |
18,294,439 (GRCm39) |
missense |
probably benign |
|
|
R9128:Vmn2r124
|
UTSW |
17 |
18,294,439 (GRCm39) |
missense |
probably benign |
|
|
R9566:Vmn2r124
|
UTSW |
17 |
18,293,581 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9680:Vmn2r124
|
UTSW |
17 |
18,293,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation