Incidental Mutation 'R7170:Vmn2r100'
ID |
558222 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r100
|
Ensembl Gene |
ENSMUSG00000091859 |
Gene Name |
vomeronasal 2, receptor 100 |
Synonyms |
EG627537 |
MMRRC Submission |
045332-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R7170 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
19725073-19752322 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 19752233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 822
(A822S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128350
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166081]
[ENSMUST00000231465]
|
AlphaFold |
E9QAZ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000166081
AA Change: A822S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000128350 Gene: ENSMUSG00000091859 AA Change: A822S
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 benign
Transcript: ENSMUST00000231465
AA Change: A759S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (81/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
C |
11: 109,836,654 (GRCm39) |
T1214A |
probably benign |
Het |
Acte1 |
T |
C |
7: 143,450,102 (GRCm39) |
S285P |
probably damaging |
Het |
Adgrf5 |
G |
A |
17: 43,757,029 (GRCm39) |
V708M |
possibly damaging |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Ankrd7 |
T |
A |
6: 18,868,389 (GRCm39) |
Y170* |
probably null |
Het |
Aplp2 |
T |
C |
9: 31,081,739 (GRCm39) |
D236G |
probably benign |
Het |
Apoa5 |
T |
C |
9: 46,181,437 (GRCm39) |
M171T |
probably benign |
Het |
Bcas3 |
T |
C |
11: 85,386,744 (GRCm39) |
V393A |
probably damaging |
Het |
Ccdc47 |
T |
C |
11: 106,093,304 (GRCm39) |
N370S |
probably benign |
Het |
Cfap77 |
A |
T |
2: 28,875,854 (GRCm39) |
Y85* |
probably null |
Het |
Col4a3 |
G |
A |
1: 82,693,630 (GRCm39) |
|
probably null |
Het |
Crnn |
T |
A |
3: 93,056,020 (GRCm39) |
S269T |
possibly damaging |
Het |
Crocc2 |
G |
A |
1: 93,121,704 (GRCm39) |
A618T |
possibly damaging |
Het |
D030056L22Rik |
A |
G |
19: 18,690,737 (GRCm39) |
K17R |
possibly damaging |
Het |
Emx1 |
G |
A |
6: 85,164,983 (GRCm39) |
G20D |
probably benign |
Het |
Fabp3 |
A |
G |
4: 130,207,763 (GRCm39) |
D88G |
probably benign |
Het |
Fam124a |
A |
C |
14: 62,824,629 (GRCm39) |
D41A |
probably damaging |
Het |
Fanca |
T |
C |
8: 123,997,945 (GRCm39) |
E1247G |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,917,870 (GRCm39) |
R1518G |
probably damaging |
Het |
Fgf12 |
T |
C |
16: 28,263,931 (GRCm39) |
I5V |
probably benign |
Het |
Fscn2 |
C |
A |
11: 120,253,335 (GRCm39) |
N267K |
probably damaging |
Het |
Ftdc1 |
G |
T |
16: 58,436,091 (GRCm39) |
C77* |
probably null |
Het |
Fubp3 |
A |
G |
2: 31,488,632 (GRCm39) |
T163A |
probably benign |
Het |
Gask1a |
G |
T |
9: 121,807,301 (GRCm39) |
A482S |
probably damaging |
Het |
Gne |
A |
G |
4: 44,040,361 (GRCm39) |
L601P |
possibly damaging |
Het |
Gphn |
T |
C |
12: 78,730,663 (GRCm39) |
V766A |
possibly damaging |
Het |
Hsf1 |
G |
T |
15: 76,384,221 (GRCm39) |
G402C |
probably damaging |
Het |
Ift81 |
A |
T |
5: 122,693,596 (GRCm39) |
Y604* |
probably null |
Het |
Iqgap3 |
T |
A |
3: 88,009,370 (GRCm39) |
I768N |
probably damaging |
Het |
Kazald1 |
A |
T |
19: 45,066,855 (GRCm39) |
D218V |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,722,018 (GRCm39) |
N3776D |
unknown |
Het |
Ktn1 |
T |
C |
14: 47,943,867 (GRCm39) |
L872S |
probably damaging |
Het |
Lama3 |
T |
G |
18: 12,537,133 (GRCm39) |
F259L |
probably benign |
Het |
Mfsd6 |
A |
G |
1: 52,701,547 (GRCm39) |
|
probably null |
Het |
Mical3 |
A |
T |
6: 120,950,694 (GRCm39) |
|
probably null |
Het |
Mob3b |
A |
G |
4: 35,083,839 (GRCm39) |
Y117H |
probably damaging |
Het |
Mrpl2 |
G |
A |
17: 46,959,181 (GRCm39) |
G95D |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,105,554 (GRCm39) |
I299F |
probably damaging |
Het |
Mta3 |
C |
T |
17: 84,022,091 (GRCm39) |
R49W |
probably damaging |
Het |
Mylk3 |
A |
G |
8: 86,077,114 (GRCm39) |
F574L |
probably damaging |
Het |
Naca |
T |
A |
10: 127,875,990 (GRCm39) |
S341T |
unknown |
Het |
Ncoa1 |
T |
C |
12: 4,299,722 (GRCm39) |
D1401G |
probably benign |
Het |
Nedd4 |
T |
A |
9: 72,577,381 (GRCm39) |
Y69N |
probably benign |
Het |
Nin |
T |
C |
12: 70,091,013 (GRCm39) |
T801A |
|
Het |
Nsd1 |
T |
A |
13: 55,409,439 (GRCm39) |
L1336* |
probably null |
Het |
Nudt16l2 |
C |
A |
9: 105,020,600 (GRCm39) |
|
probably null |
Het |
Oprk1 |
G |
A |
1: 5,672,619 (GRCm39) |
R252H |
probably damaging |
Het |
Or4c10b |
A |
T |
2: 89,711,397 (GRCm39) |
T76S |
possibly damaging |
Het |
Or4c10b |
A |
G |
2: 89,711,185 (GRCm39) |
N5S |
probably benign |
Het |
Or5w15 |
C |
T |
2: 87,568,056 (GRCm39) |
G204D |
probably damaging |
Het |
Pcdhga11 |
T |
C |
18: 37,889,717 (GRCm39) |
F242L |
probably damaging |
Het |
Pof1b |
A |
G |
X: 111,554,042 (GRCm39) |
I544T |
probably benign |
Het |
Pold1 |
T |
C |
7: 44,191,572 (GRCm39) |
H138R |
possibly damaging |
Het |
Ptprd |
A |
T |
4: 75,990,199 (GRCm39) |
D504E |
probably benign |
Het |
Rabgap1l |
A |
G |
1: 160,472,935 (GRCm39) |
V501A |
probably damaging |
Het |
Rimklb |
T |
C |
6: 122,429,697 (GRCm39) |
N233S |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
Rora |
T |
A |
9: 69,280,472 (GRCm39) |
C348* |
probably null |
Het |
Sdhaf3 |
T |
C |
6: 6,956,043 (GRCm39) |
V6A |
probably benign |
Het |
Serpina3m |
T |
A |
12: 104,355,777 (GRCm39) |
L148Q |
probably damaging |
Het |
Sik1 |
T |
C |
17: 32,067,746 (GRCm39) |
D443G |
possibly damaging |
Het |
Sim2 |
A |
G |
16: 93,923,559 (GRCm39) |
T366A |
probably benign |
Het |
Slc32a1 |
T |
C |
2: 158,453,243 (GRCm39) |
F28L |
probably damaging |
Het |
Sorbs1 |
A |
T |
19: 40,314,573 (GRCm39) |
Y746* |
probably null |
Het |
Speer4b |
T |
A |
5: 27,703,821 (GRCm39) |
N106I |
possibly damaging |
Het |
Sphkap |
A |
G |
1: 83,243,706 (GRCm39) |
S1269P |
probably damaging |
Het |
Tcf4 |
T |
C |
18: 69,766,649 (GRCm39) |
V205A |
probably damaging |
Het |
Thsd7a |
C |
T |
6: 12,352,090 (GRCm39) |
R1035H |
|
Het |
Tmprss11c |
A |
T |
5: 86,385,478 (GRCm39) |
|
probably null |
Het |
Trim50 |
A |
G |
5: 135,396,365 (GRCm39) |
T438A |
probably benign |
Het |
Ttc21a |
C |
T |
9: 119,774,607 (GRCm39) |
P287L |
probably damaging |
Het |
Ttc41 |
C |
T |
10: 86,549,367 (GRCm39) |
S187L |
probably benign |
Het |
Ttll3 |
C |
T |
6: 113,390,839 (GRCm39) |
P807L |
probably benign |
Het |
Ttn |
A |
C |
2: 76,597,696 (GRCm39) |
V19739G |
probably benign |
Het |
Usp15 |
C |
A |
10: 123,007,100 (GRCm39) |
C127F |
probably damaging |
Het |
Zan |
A |
T |
5: 137,461,756 (GRCm39) |
V1141D |
unknown |
Het |
Zfp457 |
A |
T |
13: 67,442,241 (GRCm39) |
C111* |
probably null |
Het |
Zfp758 |
C |
T |
17: 22,594,116 (GRCm39) |
Q201* |
probably null |
Het |
Zkscan2 |
T |
C |
7: 123,099,030 (GRCm39) |
E54G |
possibly damaging |
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 |
R0465:Vmn2r100
|
UTSW |
17 |
19,751,792 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
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'- CCCTTGGGAGTTATACTATGGCC -3'
(R):5'- CCAGCACTAGGGTAAGAACC -3'
Sequencing Primer
(F):5'- GCCTTTTTGTCGAGAAATTTGCC -3'
(R):5'- CTTCCTTCTAGTGTGAGGTT -3'
|
Posted On |
2019-06-26 |