Incidental Mutation 'R0465:Vmn2r100'
| ID |
41603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r100
|
| Ensembl Gene |
ENSMUSG00000091859 |
| Gene Name |
vomeronasal 2, receptor 100 |
| Synonyms |
EG627537 |
| MMRRC Submission |
038665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R0465 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
19725073-19752322 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 19751792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 612
(V612I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166081]
[ENSMUST00000231465]
|
| AlphaFold |
E9QAZ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166081
AA Change: V675I
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128350
Gene: ENSMUSG00000091859
AA Change: V675I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
83 |
456 |
7.4e-41 |
PFAM |
|
Pfam:NCD3G
|
510 |
563 |
1.9e-21 |
PFAM |
|
Pfam:7tm_3
|
594 |
831 |
2.6e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231465
AA Change: V612I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
A |
17: 56,092,137 (GRCm39) |
|
probably benign |
Het |
| Ankrd13a |
T |
A |
5: 114,942,295 (GRCm39) |
I526N |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,101,366 (GRCm39) |
V446I |
probably damaging |
Het |
| Arid1b |
G |
A |
17: 5,046,535 (GRCm39) |
G441D |
possibly damaging |
Het |
| Bdkrb2 |
A |
T |
12: 105,558,118 (GRCm39) |
N120Y |
possibly damaging |
Het |
| Bud31 |
G |
A |
5: 145,083,396 (GRCm39) |
V80I |
probably damaging |
Het |
| Camkmt |
T |
A |
17: 85,738,950 (GRCm39) |
F225L |
probably damaging |
Het |
| Carf |
T |
C |
1: 60,171,142 (GRCm39) |
M200T |
probably damaging |
Het |
| Carmil3 |
T |
C |
14: 55,737,318 (GRCm39) |
L767P |
probably damaging |
Het |
| Cdk14 |
T |
A |
5: 5,143,019 (GRCm39) |
R237S |
probably damaging |
Het |
| Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
| Cfap65 |
G |
A |
1: 74,956,043 (GRCm39) |
R1093C |
possibly damaging |
Het |
| Cnot8 |
T |
A |
11: 58,004,886 (GRCm39) |
V195E |
probably damaging |
Het |
| Copa |
T |
C |
1: 171,945,872 (GRCm39) |
F936S |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,345 (GRCm39) |
N93S |
probably benign |
Het |
| Dnai1 |
T |
A |
4: 41,629,988 (GRCm39) |
|
probably null |
Het |
| Dsel |
T |
C |
1: 111,789,992 (GRCm39) |
N181S |
probably benign |
Het |
| Enpp7 |
A |
G |
11: 118,879,607 (GRCm39) |
N87S |
probably damaging |
Het |
| Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gm12695 |
T |
C |
4: 96,673,312 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gm5592 |
T |
A |
7: 40,805,481 (GRCm39) |
|
probably benign |
Het |
| Gmnc |
T |
G |
16: 26,781,702 (GRCm39) |
N109T |
probably damaging |
Het |
| Gstcd |
A |
G |
3: 132,688,905 (GRCm39) |
I615T |
probably benign |
Het |
| Hal |
A |
C |
10: 93,352,146 (GRCm39) |
K646Q |
probably benign |
Het |
| Hbs1l |
A |
G |
10: 21,227,940 (GRCm39) |
I472V |
probably null |
Het |
| Ift27 |
A |
T |
15: 78,057,958 (GRCm39) |
|
probably benign |
Het |
| Iqub |
A |
T |
6: 24,503,783 (GRCm39) |
I163N |
probably damaging |
Het |
| Isg20l2 |
T |
A |
3: 87,838,987 (GRCm39) |
V66E |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,870,582 (GRCm39) |
M137T |
probably damaging |
Het |
| Lca5 |
T |
A |
9: 83,277,920 (GRCm39) |
K475* |
probably null |
Het |
| Lyve1 |
A |
G |
7: 110,452,034 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
T |
C |
1: 127,766,264 (GRCm39) |
D220G |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,699,204 (GRCm39) |
|
probably benign |
Het |
| Mmp15 |
T |
C |
8: 96,094,626 (GRCm39) |
W167R |
probably damaging |
Het |
| Ms4a13 |
A |
G |
19: 11,149,957 (GRCm39) |
C135R |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,101,243 (GRCm39) |
H673R |
possibly damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Oas2 |
A |
G |
5: 120,873,120 (GRCm39) |
I645T |
probably damaging |
Het |
| Or52s6 |
A |
T |
7: 103,092,042 (GRCm39) |
F96Y |
possibly damaging |
Het |
| Pard3b |
T |
G |
1: 62,250,877 (GRCm39) |
|
probably benign |
Het |
| Patj |
T |
A |
4: 98,423,744 (GRCm39) |
|
probably null |
Het |
| Pcare |
A |
G |
17: 72,057,155 (GRCm39) |
C841R |
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
| Rab34 |
C |
A |
11: 78,081,337 (GRCm39) |
C67* |
probably null |
Het |
| Rimbp3 |
T |
C |
16: 17,029,644 (GRCm39) |
S1023P |
possibly damaging |
Het |
| Rnf148 |
T |
C |
6: 23,654,684 (GRCm39) |
N104S |
probably benign |
Het |
| Rpa1 |
T |
C |
11: 75,203,921 (GRCm39) |
T288A |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,357,340 (GRCm39) |
L976P |
probably damaging |
Het |
| Serpina12 |
T |
A |
12: 104,004,104 (GRCm39) |
D176V |
probably benign |
Het |
| Sik1 |
C |
T |
17: 32,073,996 (GRCm39) |
V10I |
possibly damaging |
Het |
| Sntb1 |
C |
A |
15: 55,612,672 (GRCm39) |
R302L |
probably benign |
Het |
| Stambp |
A |
G |
6: 83,547,321 (GRCm39) |
I56T |
probably benign |
Het |
| Tac2 |
A |
G |
10: 127,565,039 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
T |
9: 42,270,714 (GRCm39) |
I1198K |
possibly damaging |
Het |
| Tfip11 |
C |
T |
5: 112,481,130 (GRCm39) |
R369C |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 99,021,142 (GRCm39) |
I79T |
probably damaging |
Het |
| Ttll5 |
A |
T |
12: 85,980,100 (GRCm39) |
N895Y |
probably benign |
Het |
| Ube2u |
T |
A |
4: 100,389,293 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,989,180 (GRCm39) |
S40P |
possibly damaging |
Het |
| Vmn2r59 |
G |
T |
7: 41,696,332 (GRCm39) |
H137N |
probably benign |
Het |
| Vsig10l |
T |
C |
7: 43,116,866 (GRCm39) |
V467A |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,215,805 (GRCm39) |
|
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,528,578 (GRCm39) |
D139E |
probably benign |
Het |
| Zc3h15 |
T |
C |
2: 83,494,159 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,310,716 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,509,413 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmn2r100 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Vmn2r100
|
APN |
17 |
19,746,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00912:Vmn2r100
|
APN |
17 |
19,751,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01107:Vmn2r100
|
APN |
17 |
19,741,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01517:Vmn2r100
|
APN |
17 |
19,742,225 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01594:Vmn2r100
|
APN |
17 |
19,751,495 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01657:Vmn2r100
|
APN |
17 |
19,746,178 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01822:Vmn2r100
|
APN |
17 |
19,725,100 (GRCm39) |
missense |
probably null |
0.00 |
|
IGL02020:Vmn2r100
|
APN |
17 |
19,725,200 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02060:Vmn2r100
|
APN |
17 |
19,741,516 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02126:Vmn2r100
|
APN |
17 |
19,741,504 (GRCm39) |
splice site |
probably benign |
|
|
IGL02142:Vmn2r100
|
APN |
17 |
19,742,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02308:Vmn2r100
|
APN |
17 |
19,741,597 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02407:Vmn2r100
|
APN |
17 |
19,741,770 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02469:Vmn2r100
|
APN |
17 |
19,751,547 (GRCm39) |
nonsense |
probably null |
|
|
IGL03088:Vmn2r100
|
APN |
17 |
19,742,301 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03181:Vmn2r100
|
APN |
17 |
19,752,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03405:Vmn2r100
|
APN |
17 |
19,752,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8562:Vmn2r100
|
UTSW |
17 |
19,741,752 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0012:Vmn2r100
|
UTSW |
17 |
19,746,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0012:Vmn2r100
|
UTSW |
17 |
19,725,136 (GRCm39) |
missense |
probably benign |
|
|
R0044:Vmn2r100
|
UTSW |
17 |
19,742,441 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0109:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0111:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0112:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0149:Vmn2r100
|
UTSW |
17 |
19,741,509 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0355:Vmn2r100
|
UTSW |
17 |
19,751,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0395:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0396:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0453:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0477:Vmn2r100
|
UTSW |
17 |
19,742,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0510:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0512:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0514:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0518:Vmn2r100
|
UTSW |
17 |
19,742,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Vmn2r100
|
UTSW |
17 |
19,742,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0608:Vmn2r100
|
UTSW |
17 |
19,742,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0959:Vmn2r100
|
UTSW |
17 |
19,743,786 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1114:Vmn2r100
|
UTSW |
17 |
19,752,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2027:Vmn2r100
|
UTSW |
17 |
19,742,334 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2049:Vmn2r100
|
UTSW |
17 |
19,742,312 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2224:Vmn2r100
|
UTSW |
17 |
19,742,634 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2226:Vmn2r100
|
UTSW |
17 |
19,742,634 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3618:Vmn2r100
|
UTSW |
17 |
19,743,692 (GRCm39) |
missense |
probably benign |
|
|
R3715:Vmn2r100
|
UTSW |
17 |
19,752,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4120:Vmn2r100
|
UTSW |
17 |
19,752,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4152:Vmn2r100
|
UTSW |
17 |
19,743,681 (GRCm39) |
frame shift |
probably null |
|
|
R4153:Vmn2r100
|
UTSW |
17 |
19,743,681 (GRCm39) |
frame shift |
probably null |
|
|
R4154:Vmn2r100
|
UTSW |
17 |
19,743,681 (GRCm39) |
frame shift |
probably null |
|
|
R4200:Vmn2r100
|
UTSW |
17 |
19,742,797 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4632:Vmn2r100
|
UTSW |
17 |
19,752,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Vmn2r100
|
UTSW |
17 |
19,742,788 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4761:Vmn2r100
|
UTSW |
17 |
19,741,630 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4831:Vmn2r100
|
UTSW |
17 |
19,741,672 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4951:Vmn2r100
|
UTSW |
17 |
19,752,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5211:Vmn2r100
|
UTSW |
17 |
19,746,257 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5553:Vmn2r100
|
UTSW |
17 |
19,725,110 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5657:Vmn2r100
|
UTSW |
17 |
19,725,178 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5883:Vmn2r100
|
UTSW |
17 |
19,743,786 (GRCm39) |
missense |
probably benign |
|
|
R5912:Vmn2r100
|
UTSW |
17 |
19,752,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6141:Vmn2r100
|
UTSW |
17 |
19,742,576 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6146:Vmn2r100
|
UTSW |
17 |
19,742,522 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6500:Vmn2r100
|
UTSW |
17 |
19,742,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6575:Vmn2r100
|
UTSW |
17 |
19,741,671 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6647:Vmn2r100
|
UTSW |
17 |
19,742,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7038:Vmn2r100
|
UTSW |
17 |
19,725,263 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7052:Vmn2r100
|
UTSW |
17 |
19,751,556 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7170:Vmn2r100
|
UTSW |
17 |
19,752,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7209:Vmn2r100
|
UTSW |
17 |
19,751,576 (GRCm39) |
missense |
not run |
|
|
R7312:Vmn2r100
|
UTSW |
17 |
19,742,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7734:Vmn2r100
|
UTSW |
17 |
19,742,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7750:Vmn2r100
|
UTSW |
17 |
19,742,726 (GRCm39) |
missense |
probably benign |
|
|
R8103:Vmn2r100
|
UTSW |
17 |
19,751,415 (GRCm39) |
splice site |
probably null |
|
|
R8193:Vmn2r100
|
UTSW |
17 |
19,725,102 (GRCm39) |
nonsense |
probably null |
|
|
R8267:Vmn2r100
|
UTSW |
17 |
19,742,752 (GRCm39) |
nonsense |
probably null |
|
|
R8290:Vmn2r100
|
UTSW |
17 |
19,751,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8531:Vmn2r100
|
UTSW |
17 |
19,742,459 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8786:Vmn2r100
|
UTSW |
17 |
19,742,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Vmn2r100
|
UTSW |
17 |
19,741,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8938:Vmn2r100
|
UTSW |
17 |
19,751,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9555:Vmn2r100
|
UTSW |
17 |
19,743,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9572:Vmn2r100
|
UTSW |
17 |
19,741,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9609:Vmn2r100
|
UTSW |
17 |
19,743,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9618:Vmn2r100
|
UTSW |
17 |
19,742,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Vmn2r100
|
UTSW |
17 |
19,751,652 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Vmn2r100
|
UTSW |
17 |
19,741,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Vmn2r100
|
UTSW |
17 |
19,725,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGCTTTCTGGCCTATGAAGACC -3'
(R):5'- TATGAAGGCAAGGAGTGCTGTGCTG -3'
Sequencing Primer
(F):5'- GGCATTAGCAAGCATAGCTTTG -3'
(R):5'- AGTGCTGTGCTGGAAACC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation