Incidental Mutation 'R2027:Vmn2r100'
ID |
220870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r100
|
Ensembl Gene |
ENSMUSG00000091859 |
Gene Name |
vomeronasal 2, receptor 100 |
Synonyms |
EG627537 |
MMRRC Submission |
040035-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R2027 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
19725073-19752322 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 19742334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 236
(Q236L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156263
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166081]
[ENSMUST00000231465]
|
AlphaFold |
E9QAZ9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000166081
AA Change: Q236L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000128350 Gene: ENSMUSG00000091859 AA Change: Q236L
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: Q236L
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
100% (70/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
T |
C |
9: 99,502,254 (GRCm39) |
V138A |
possibly damaging |
Het |
Aatk |
A |
G |
11: 119,900,143 (GRCm39) |
S1291P |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,743,301 (GRCm39) |
V67M |
probably damaging |
Het |
Apoa4 |
G |
A |
9: 46,154,298 (GRCm39) |
V300M |
probably damaging |
Het |
Bcl2a1d |
A |
T |
9: 88,613,438 (GRCm39) |
V112E |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 37,102,110 (GRCm39) |
|
probably benign |
Het |
Cabp2 |
T |
A |
19: 4,137,126 (GRCm39) |
M166K |
probably damaging |
Het |
Camsap1 |
A |
G |
2: 25,828,538 (GRCm39) |
V1062A |
possibly damaging |
Het |
Cap1 |
T |
G |
4: 122,756,686 (GRCm39) |
|
probably benign |
Het |
Caprin2 |
A |
G |
6: 148,779,385 (GRCm39) |
Y141H |
probably damaging |
Het |
Card11 |
T |
C |
5: 140,892,522 (GRCm39) |
Y181C |
probably damaging |
Het |
Ccdc107 |
T |
C |
4: 43,495,874 (GRCm39) |
V259A |
probably benign |
Het |
Ccn4 |
A |
G |
15: 66,789,258 (GRCm39) |
E248G |
possibly damaging |
Het |
Chd9 |
A |
G |
8: 91,634,619 (GRCm39) |
|
probably benign |
Het |
Cibar1 |
T |
A |
4: 12,171,216 (GRCm39) |
D79V |
probably damaging |
Het |
Col12a1 |
T |
C |
9: 79,553,075 (GRCm39) |
|
probably null |
Het |
Cuzd1 |
T |
C |
7: 130,921,820 (GRCm39) |
T61A |
possibly damaging |
Het |
Dbp |
C |
A |
7: 45,357,700 (GRCm39) |
D89E |
probably benign |
Het |
Dhps |
A |
T |
8: 85,799,240 (GRCm39) |
N140Y |
probably damaging |
Het |
Dido1 |
A |
T |
2: 180,330,974 (GRCm39) |
L158* |
probably null |
Het |
Dnah9 |
T |
G |
11: 65,846,164 (GRCm39) |
N2958T |
probably benign |
Het |
Dpp8 |
T |
A |
9: 64,986,056 (GRCm39) |
Y849N |
probably damaging |
Het |
Dsg2 |
A |
G |
18: 20,716,061 (GRCm39) |
|
probably benign |
Het |
Efemp1 |
A |
T |
11: 28,864,696 (GRCm39) |
Y250F |
possibly damaging |
Het |
Faxc |
T |
C |
4: 21,958,439 (GRCm39) |
|
probably benign |
Het |
Frem3 |
G |
T |
8: 81,421,966 (GRCm39) |
C2122F |
possibly damaging |
Het |
Gan |
T |
C |
8: 117,914,238 (GRCm39) |
|
probably null |
Het |
Gnl1 |
A |
G |
17: 36,293,850 (GRCm39) |
N274D |
probably benign |
Het |
Hook3 |
T |
C |
8: 26,528,126 (GRCm39) |
E588G |
probably damaging |
Het |
Itpr1 |
C |
A |
6: 108,363,814 (GRCm39) |
S812Y |
possibly damaging |
Het |
Kbtbd3 |
C |
T |
9: 4,317,075 (GRCm39) |
|
probably benign |
Het |
Macf1 |
C |
T |
4: 123,265,711 (GRCm39) |
A4821T |
probably damaging |
Het |
Mepe |
T |
C |
5: 104,474,957 (GRCm39) |
S13P |
possibly damaging |
Het |
Msantd5f6 |
A |
G |
4: 73,321,295 (GRCm39) |
I154T |
possibly damaging |
Het |
Myh11 |
A |
G |
16: 14,050,532 (GRCm39) |
Y478H |
probably damaging |
Het |
Myo7b |
A |
G |
18: 32,118,013 (GRCm39) |
V871A |
probably benign |
Het |
Nckap1 |
A |
T |
2: 80,365,862 (GRCm39) |
M466K |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Or4k6 |
A |
G |
14: 50,475,406 (GRCm39) |
I312T |
probably benign |
Het |
Or52r1b |
A |
T |
7: 102,690,731 (GRCm39) |
H15L |
probably benign |
Het |
Or5aq1b |
T |
A |
2: 86,901,897 (GRCm39) |
N194Y |
possibly damaging |
Het |
Or5m13 |
A |
C |
2: 85,749,114 (GRCm39) |
S282R |
probably damaging |
Het |
Or9k2 |
A |
G |
10: 129,998,604 (GRCm39) |
I197T |
probably benign |
Het |
Or9s23 |
A |
T |
1: 92,501,489 (GRCm39) |
T199S |
probably damaging |
Het |
Otof |
T |
C |
5: 30,578,358 (GRCm39) |
T97A |
probably benign |
Het |
Peli2 |
G |
A |
14: 48,493,602 (GRCm39) |
E275K |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,950,057 (GRCm39) |
Y1320C |
probably damaging |
Het |
Pkn1 |
A |
G |
8: 84,398,007 (GRCm39) |
V795A |
probably damaging |
Het |
Pramel5 |
A |
G |
4: 143,998,274 (GRCm39) |
L323P |
probably damaging |
Het |
Prr5 |
A |
T |
15: 84,585,580 (GRCm39) |
R183W |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rabgef1 |
A |
G |
5: 130,237,620 (GRCm39) |
D231G |
possibly damaging |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rc3h1 |
C |
T |
1: 160,782,507 (GRCm39) |
P662L |
probably benign |
Het |
Rpl7a-ps5 |
G |
T |
17: 58,146,090 (GRCm39) |
Q47K |
probably benign |
Het |
Sclt1 |
G |
A |
3: 41,685,323 (GRCm39) |
T45I |
probably benign |
Het |
Slc22a17 |
A |
G |
14: 55,145,543 (GRCm39) |
I202T |
probably damaging |
Het |
Slc25a13 |
A |
G |
6: 6,073,487 (GRCm39) |
L457S |
probably damaging |
Het |
Slc44a3 |
T |
C |
3: 121,257,059 (GRCm39) |
|
probably benign |
Het |
Slc7a9 |
G |
A |
7: 35,153,562 (GRCm39) |
V188M |
probably damaging |
Het |
Spata31d1e |
A |
G |
13: 59,890,401 (GRCm39) |
M55T |
possibly damaging |
Het |
Tmem161a |
T |
A |
8: 70,630,170 (GRCm39) |
F119I |
probably damaging |
Het |
Tmem240 |
A |
G |
4: 155,819,892 (GRCm39) |
D32G |
possibly damaging |
Het |
Tmtc4 |
T |
C |
14: 123,158,677 (GRCm39) |
N682S |
probably benign |
Het |
Uqcrc1 |
G |
A |
9: 108,776,083 (GRCm39) |
V262M |
probably benign |
Het |
Vmn1r87 |
G |
A |
7: 12,865,823 (GRCm39) |
R155C |
probably damaging |
Het |
Vmn2r97 |
T |
A |
17: 19,149,944 (GRCm39) |
I444N |
unknown |
Het |
Yif1a |
A |
T |
19: 5,139,900 (GRCm39) |
H115L |
probably damaging |
Het |
Zfp280b |
T |
C |
10: 75,874,328 (GRCm39) |
L69S |
probably damaging |
Het |
Zfp579 |
C |
A |
7: 4,996,520 (GRCm39) |
E464* |
probably null |
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 |
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'- CTCTCTTGAGTGACCGTAGTC -3'
(R):5'- AGGCTTCCATGAAATGAGTCTAACAAG -3'
Sequencing Primer
(F):5'- GTAGTCAGTATTCTTCACTCTACCAG -3'
(R):5'- TGTATTCAACGTTCATGACCCAAAC -3'
|
Posted On |
2014-08-25 |