Incidental Mutation 'R5609:Vmn2r124'
| ID |
457992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r124
|
| Ensembl Gene |
ENSMUSG00000094396 |
| Gene Name |
vomeronasal 2, receptor 124 |
| Synonyms |
Vmn2r-ps113, Gm7196 |
| MMRRC Submission |
043158-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.308)
|
| Stock # |
R5609 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18269746-18294482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18294102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 730
(Y730H)
|
| 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: Y730H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135613
Gene: ENSMUSG00000094396
AA Change: Y730H
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,353,874 (GRCm39) |
I3732T |
probably benign |
Het |
| Ago1 |
C |
A |
4: 126,354,830 (GRCm39) |
K127N |
possibly damaging |
Het |
| Akap8l |
T |
C |
17: 32,557,374 (GRCm39) |
N79S |
probably damaging |
Het |
| Ano5 |
T |
C |
7: 51,243,385 (GRCm39) |
L836P |
probably damaging |
Het |
| AY358078 |
A |
G |
14: 52,042,065 (GRCm39) |
T147A |
unknown |
Het |
| Cabp4 |
T |
C |
19: 4,189,251 (GRCm39) |
D102G |
probably benign |
Het |
| Cdc34 |
C |
T |
10: 79,520,655 (GRCm39) |
R61C |
probably damaging |
Het |
| Chac1 |
A |
G |
2: 119,181,887 (GRCm39) |
K2E |
unknown |
Het |
| Cltc |
C |
T |
11: 86,621,093 (GRCm39) |
V305I |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,524,683 (GRCm39) |
T704A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,421,174 (GRCm39) |
V184A |
probably damaging |
Het |
| Daglb |
A |
T |
5: 143,464,274 (GRCm39) |
T262S |
probably benign |
Het |
| Dglucy |
A |
G |
12: 100,753,905 (GRCm39) |
I12V |
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,621,753 (GRCm39) |
V1124A |
probably benign |
Het |
| Eef2 |
C |
CN |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
| Eif3k |
C |
A |
7: 28,681,133 (GRCm39) |
A9S |
probably benign |
Het |
| Elapor1 |
T |
A |
3: 108,378,731 (GRCm39) |
I408F |
probably damaging |
Het |
| Gli3 |
A |
T |
13: 15,723,038 (GRCm39) |
M60L |
possibly damaging |
Het |
| Hk1 |
C |
T |
10: 62,178,330 (GRCm39) |
E4K |
probably benign |
Het |
| Kmt2b |
C |
A |
7: 30,276,570 (GRCm39) |
V1701L |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,231,807 (GRCm39) |
H1107R |
probably damaging |
Het |
| Lypd10 |
A |
T |
7: 24,413,711 (GRCm39) |
R242S |
possibly damaging |
Het |
| Ncor1 |
A |
G |
11: 62,249,679 (GRCm39) |
|
probably null |
Het |
| Or5h23 |
T |
A |
16: 58,906,439 (GRCm39) |
M136L |
possibly damaging |
Het |
| Or6c70 |
T |
G |
10: 129,710,607 (GRCm39) |
R6S |
probably benign |
Het |
| Plekhg4 |
G |
A |
8: 106,106,134 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
G |
T |
8: 110,251,739 (GRCm39) |
E327D |
probably damaging |
Het |
| Slc22a17 |
G |
A |
14: 55,146,427 (GRCm39) |
P63L |
probably damaging |
Het |
| Slc37a1 |
G |
A |
17: 31,556,982 (GRCm39) |
V383M |
possibly damaging |
Het |
| Slc9a9 |
T |
A |
9: 94,691,990 (GRCm39) |
Y182N |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,842,162 (GRCm39) |
D29G |
probably damaging |
Het |
| St3gal5 |
T |
C |
6: 72,130,446 (GRCm39) |
V319A |
possibly damaging |
Het |
| Tbc1d10c |
C |
T |
19: 4,239,881 (GRCm39) |
M76I |
possibly damaging |
Het |
| Thrb |
C |
A |
14: 18,033,526 (GRCm38) |
H416N |
probably benign |
Het |
| Timp2 |
T |
A |
11: 118,210,987 (GRCm39) |
D60V |
probably damaging |
Het |
| Ubxn6 |
C |
T |
17: 56,376,745 (GRCm39) |
E216K |
probably benign |
Het |
| Unc79 |
T |
C |
12: 103,094,527 (GRCm39) |
M1977T |
probably benign |
Het |
| Uri1 |
G |
A |
7: 37,662,954 (GRCm39) |
R347* |
probably null |
Het |
| Vmn1r73 |
G |
A |
7: 11,490,591 (GRCm39) |
W136* |
probably null |
Het |
| Wnk4 |
C |
T |
11: 101,166,462 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,679 (GRCm39) |
N2971D |
probably damaging |
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 |
|
IGL01356:Vmn2r124
|
APN |
17 |
18,293,733 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-02-16 |
Incidental Mutation