Incidental Mutation 'R0012:Vmn2r100'
| ID |
32592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r100
|
| Ensembl Gene |
ENSMUSG00000091859 |
| Gene Name |
vomeronasal 2, receptor 100 |
| Synonyms |
EG627537 |
| MMRRC Submission |
038307-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R0012 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
19725073-19752322 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19746296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 485
(E485V)
|
| 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: E548V
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128350
Gene: ENSMUSG00000091859
AA Change: E548V
| 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: E485V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.7%
|
| Validation Efficiency |
98% (81/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam33 |
A |
T |
2: 130,894,840 (GRCm39) |
L687Q |
probably damaging |
Het |
| Adap1 |
A |
G |
5: 139,293,489 (GRCm39) |
|
probably benign |
Het |
| Add2 |
T |
A |
6: 86,075,610 (GRCm39) |
V253E |
probably damaging |
Het |
| Agtr1a |
A |
T |
13: 30,565,732 (GRCm39) |
I266F |
probably damaging |
Het |
| Anxa9 |
A |
G |
3: 95,215,406 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
G |
A |
5: 62,840,827 (GRCm39) |
L680F |
probably damaging |
Het |
| Bnip3 |
A |
G |
7: 138,500,401 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
A |
C |
16: 95,860,852 (GRCm39) |
S311R |
probably damaging |
Het |
| C2cd3 |
G |
A |
7: 100,067,729 (GRCm39) |
V871M |
possibly damaging |
Het |
| Cacul1 |
A |
G |
19: 60,552,691 (GRCm39) |
W145R |
probably damaging |
Het |
| Celf5 |
C |
A |
10: 81,305,346 (GRCm39) |
V141L |
probably damaging |
Het |
| Cfap206 |
C |
A |
4: 34,714,519 (GRCm39) |
L392F |
possibly damaging |
Het |
| Chd2 |
G |
T |
7: 73,105,267 (GRCm39) |
T192K |
probably damaging |
Het |
| Chrna10 |
T |
C |
7: 101,764,264 (GRCm39) |
N40S |
possibly damaging |
Het |
| Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,458,722 (GRCm39) |
|
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Col5a3 |
A |
T |
9: 20,688,404 (GRCm39) |
|
probably benign |
Het |
| Copb1 |
T |
A |
7: 113,836,643 (GRCm39) |
K366N |
probably damaging |
Het |
| Cul9 |
G |
A |
17: 46,849,436 (GRCm39) |
R570C |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,175,687 (GRCm39) |
L7Q |
probably null |
Het |
| Dock2 |
T |
C |
11: 34,674,622 (GRCm39) |
E10G |
possibly damaging |
Het |
| Dpysl4 |
T |
G |
7: 138,677,799 (GRCm39) |
I412S |
probably benign |
Het |
| Eaf2 |
T |
A |
16: 36,628,536 (GRCm39) |
|
probably benign |
Het |
| Fasl |
T |
C |
1: 161,615,733 (GRCm39) |
D41G |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,153,697 (GRCm39) |
V3505A |
probably benign |
Het |
| Fbxo24 |
A |
G |
5: 137,620,256 (GRCm39) |
F101S |
probably damaging |
Het |
| Fdft1 |
T |
C |
14: 63,415,147 (GRCm39) |
I28M |
probably benign |
Het |
| Gcnt3 |
T |
C |
9: 69,941,367 (GRCm39) |
I400M |
probably benign |
Het |
| Get3 |
T |
C |
8: 85,751,725 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,228,880 (GRCm39) |
M228K |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,431,227 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
A |
G |
3: 103,670,996 (GRCm39) |
M467T |
probably damaging |
Het |
| Hmgb4 |
T |
A |
4: 128,154,518 (GRCm39) |
I17F |
probably damaging |
Het |
| Ints10 |
C |
A |
8: 69,260,127 (GRCm39) |
L284M |
probably benign |
Het |
| Kif17 |
T |
G |
4: 138,021,059 (GRCm39) |
S606A |
probably damaging |
Het |
| Lifr |
C |
A |
15: 7,205,089 (GRCm39) |
T442K |
possibly damaging |
Het |
| Lypd4 |
A |
G |
7: 24,564,757 (GRCm39) |
L127P |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,862,279 (GRCm39) |
H2605R |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,457,076 (GRCm39) |
S1289P |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,742,190 (GRCm39) |
|
probably null |
Het |
| Mob1b |
G |
A |
5: 88,903,943 (GRCm39) |
|
probably benign |
Het |
| Mrgpra1 |
A |
G |
7: 46,985,218 (GRCm39) |
S154P |
probably damaging |
Het |
| Ms4a4c |
C |
A |
19: 11,396,344 (GRCm39) |
|
probably benign |
Het |
| Mthfd2l |
A |
T |
5: 91,109,242 (GRCm39) |
H224L |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,190,847 (GRCm39) |
Y1350H |
probably benign |
Het |
| Nectin2 |
T |
C |
7: 19,464,669 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
A |
C |
5: 118,031,967 (GRCm39) |
N305T |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,409,206 (GRCm39) |
Q340L |
possibly damaging |
Het |
| Or2aj5 |
T |
C |
16: 19,425,190 (GRCm39) |
N76S |
probably benign |
Het |
| Or4f62 |
A |
T |
2: 111,987,171 (GRCm39) |
N292Y |
possibly damaging |
Het |
| Or6k14 |
T |
G |
1: 173,927,773 (GRCm39) |
F250V |
probably damaging |
Het |
| Or9i1 |
C |
A |
19: 13,839,187 (GRCm39) |
T10K |
probably damaging |
Het |
| Orc1 |
T |
C |
4: 108,452,843 (GRCm39) |
|
probably null |
Het |
| Plekhg5 |
C |
A |
4: 152,189,207 (GRCm39) |
D249E |
probably benign |
Het |
| Plet1 |
A |
G |
9: 50,410,430 (GRCm39) |
I74V |
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,480,434 (GRCm39) |
D718E |
probably damaging |
Het |
| Rab33b |
G |
T |
3: 51,391,737 (GRCm39) |
|
probably benign |
Het |
| Rae1 |
T |
A |
2: 172,844,466 (GRCm39) |
F4I |
unknown |
Het |
| Ralgapa2 |
A |
G |
2: 146,254,672 (GRCm39) |
Y821H |
probably benign |
Het |
| Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
| Sharpin |
G |
T |
15: 76,232,543 (GRCm39) |
P156T |
possibly damaging |
Het |
| Slc38a4 |
C |
T |
15: 96,897,510 (GRCm39) |
R435H |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,070,469 (GRCm39) |
V1061A |
probably benign |
Het |
| Suclg1 |
A |
G |
6: 73,247,980 (GRCm39) |
T234A |
possibly damaging |
Het |
| Swsap1 |
T |
C |
9: 21,868,318 (GRCm39) |
C197R |
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,259,412 (GRCm39) |
T428A |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,182,319 (GRCm39) |
Y1215C |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,979,523 (GRCm39) |
|
probably benign |
Het |
| Tmem209 |
G |
T |
6: 30,502,112 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,589,176 (GRCm39) |
E58G |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,272,283 (GRCm39) |
M464K |
probably damaging |
Het |
| Ttc32 |
A |
G |
12: 9,085,897 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Unc80 |
T |
C |
1: 66,546,550 (GRCm39) |
S541P |
probably damaging |
Het |
| Ushbp1 |
T |
C |
8: 71,847,684 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
G |
A |
17: 26,046,087 (GRCm39) |
V471I |
probably benign |
Het |
| Zfp35 |
T |
A |
18: 24,136,001 (GRCm39) |
M115K |
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,538,796 (GRCm39) |
S216L |
probably benign |
Het |
| Zfp644 |
T |
G |
5: 106,782,909 (GRCm39) |
E1155A |
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 |
19,725,136 (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 |
|
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 |
|
| Posted On |
2013-05-09 |
Incidental Mutation