Incidental Mutation 'R2237:Vmn2r80'
ID |
240476 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r80
|
Ensembl Gene |
ENSMUSG00000091888 |
Gene Name |
vomeronasal 2, receptor 80 |
Synonyms |
EG624765 |
MMRRC Submission |
040237-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R2237 (G1)
|
Quality Score |
195 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
78984650-79030767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 79004104 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 106
(E106K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
AlphaFold |
E9Q1L0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165834
AA Change: E106K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132299 Gene: ENSMUSG00000091888 AA Change: E106K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
79 |
474 |
1.5e-36 |
PFAM |
Pfam:NCD3G
|
517 |
570 |
7.9e-22 |
PFAM |
Pfam:7tm_3
|
603 |
838 |
6.2e-49 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
T |
C |
8: 25,136,303 (GRCm39) |
E406G |
probably benign |
Het |
Alox8 |
A |
C |
11: 69,076,597 (GRCm39) |
S572A |
probably benign |
Het |
Aoah |
G |
A |
13: 20,978,481 (GRCm39) |
|
probably benign |
Het |
Arhgap36 |
G |
T |
X: 48,582,282 (GRCm39) |
V60L |
possibly damaging |
Het |
Arhgef37 |
T |
A |
18: 61,637,477 (GRCm39) |
Y395F |
probably damaging |
Het |
Bard1 |
G |
A |
1: 71,114,135 (GRCm39) |
P282L |
probably damaging |
Het |
Brd7 |
T |
A |
8: 89,073,541 (GRCm39) |
E283V |
probably benign |
Het |
Btbd9 |
T |
C |
17: 30,553,302 (GRCm39) |
I387V |
probably benign |
Het |
Cacna1a |
T |
C |
8: 85,360,394 (GRCm39) |
|
probably null |
Het |
Cacna1c |
T |
C |
6: 118,629,704 (GRCm39) |
Q1205R |
possibly damaging |
Het |
Camsap2 |
A |
T |
1: 136,273,069 (GRCm39) |
L36Q |
probably damaging |
Het |
Ccnj |
T |
C |
19: 40,834,219 (GRCm39) |
F261L |
probably benign |
Het |
Cd200r4 |
T |
A |
16: 44,641,260 (GRCm39) |
M1K |
probably null |
Het |
Cdca7l |
A |
G |
12: 117,837,761 (GRCm39) |
E237G |
probably damaging |
Het |
Cep128 |
T |
C |
12: 91,314,341 (GRCm39) |
T146A |
probably benign |
Het |
Clhc1 |
T |
G |
11: 29,519,329 (GRCm39) |
S379A |
probably benign |
Het |
Dbf4 |
T |
A |
5: 8,458,542 (GRCm39) |
I158L |
possibly damaging |
Het |
Deup1 |
A |
C |
9: 15,486,597 (GRCm39) |
I455S |
probably damaging |
Het |
Dlec1 |
T |
C |
9: 118,967,259 (GRCm39) |
|
probably null |
Het |
Eomes |
A |
G |
9: 118,311,359 (GRCm39) |
D394G |
probably damaging |
Het |
Epn1 |
A |
G |
7: 5,100,601 (GRCm39) |
N518S |
probably damaging |
Het |
Espl1 |
G |
A |
15: 102,224,004 (GRCm39) |
R1185H |
probably damaging |
Het |
Evc2 |
T |
C |
5: 37,535,527 (GRCm39) |
S401P |
probably benign |
Het |
Fbxw15 |
A |
G |
9: 109,384,303 (GRCm39) |
S403P |
probably damaging |
Het |
Hsd17b1 |
G |
A |
11: 100,970,652 (GRCm39) |
V236M |
probably damaging |
Het |
Htatsf1 |
G |
T |
X: 56,111,864 (GRCm39) |
D642Y |
unknown |
Het |
Iqca1l |
A |
T |
5: 24,753,292 (GRCm39) |
N453K |
probably benign |
Het |
Itpripl2 |
T |
C |
7: 118,089,294 (GRCm39) |
T422A |
probably benign |
Het |
Izumo4 |
T |
C |
10: 80,538,664 (GRCm39) |
S39P |
probably damaging |
Het |
Kcnh5 |
T |
A |
12: 75,054,493 (GRCm39) |
M484L |
probably benign |
Het |
Kctd8 |
T |
A |
5: 69,267,752 (GRCm39) |
I453F |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,584,020 (GRCm39) |
T152A |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,941,733 (GRCm39) |
V1809A |
possibly damaging |
Het |
L3mbtl2 |
A |
T |
15: 81,568,531 (GRCm39) |
T512S |
probably benign |
Het |
Ltbp1 |
C |
A |
17: 75,617,158 (GRCm39) |
D1032E |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,278,055 (GRCm39) |
F633S |
probably damaging |
Het |
Muc5b |
T |
G |
7: 141,415,826 (GRCm39) |
I2924S |
probably benign |
Het |
Nfe2l2 |
G |
A |
2: 75,506,898 (GRCm39) |
P401S |
probably benign |
Het |
Nid1 |
T |
C |
13: 13,675,070 (GRCm39) |
V930A |
probably benign |
Het |
Nt5c1b |
C |
A |
12: 10,425,558 (GRCm39) |
T309K |
probably damaging |
Het |
Nt5m |
A |
G |
11: 59,743,696 (GRCm39) |
K108R |
probably benign |
Het |
Or10v5 |
T |
C |
19: 11,805,814 (GRCm39) |
D192G |
probably damaging |
Het |
Or13p3 |
A |
G |
4: 118,567,192 (GRCm39) |
D196G |
probably damaging |
Het |
Osbpl9 |
T |
A |
4: 109,013,854 (GRCm39) |
Q80L |
probably damaging |
Het |
Osm |
A |
G |
11: 4,188,505 (GRCm39) |
N44S |
possibly damaging |
Het |
Pclo |
C |
T |
5: 14,763,952 (GRCm39) |
P4142S |
unknown |
Het |
Pdlim2 |
T |
G |
14: 70,408,698 (GRCm39) |
T173P |
probably benign |
Het |
Pex1 |
T |
C |
5: 3,668,915 (GRCm39) |
|
probably null |
Het |
Phka2 |
A |
G |
X: 159,324,408 (GRCm39) |
E254G |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,923,081 (GRCm39) |
Y984H |
probably damaging |
Het |
Plscr2 |
T |
C |
9: 92,172,877 (GRCm39) |
C179R |
probably damaging |
Het |
Rbpms2 |
C |
A |
9: 65,558,893 (GRCm39) |
Y183* |
probably null |
Het |
Ryr2 |
T |
A |
13: 11,677,146 (GRCm39) |
E3235V |
probably benign |
Het |
Sesn3 |
T |
C |
9: 14,219,761 (GRCm39) |
V50A |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,004,409 (GRCm39) |
V246A |
probably benign |
Het |
Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
Spata31e2 |
A |
T |
1: 26,724,241 (GRCm39) |
M313K |
possibly damaging |
Het |
Spata4 |
A |
C |
8: 55,055,664 (GRCm39) |
K185T |
probably benign |
Het |
Spin2c |
A |
G |
X: 152,616,672 (GRCm39) |
I162V |
probably damaging |
Het |
Stac |
G |
A |
9: 111,519,190 (GRCm39) |
|
probably benign |
Het |
Tas1r3 |
A |
T |
4: 155,946,675 (GRCm39) |
M310K |
possibly damaging |
Het |
Tenm3 |
G |
A |
8: 48,795,372 (GRCm39) |
P585L |
probably damaging |
Het |
Tnfsf11 |
A |
T |
14: 78,537,421 (GRCm39) |
S81T |
possibly damaging |
Het |
Topaz1 |
C |
T |
9: 122,600,212 (GRCm39) |
T984I |
probably benign |
Het |
Ttll2 |
G |
A |
17: 7,619,522 (GRCm39) |
T135I |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,170,101 (GRCm39) |
S1584G |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Xpc |
T |
C |
6: 91,475,090 (GRCm39) |
H643R |
probably damaging |
Het |
Zan |
G |
A |
5: 137,456,099 (GRCm39) |
Q1354* |
probably null |
Het |
Zpld2 |
A |
C |
4: 133,929,516 (GRCm39) |
M263R |
unknown |
Het |
|
Other mutations in Vmn2r80 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01084:Vmn2r80
|
APN |
10 |
79,030,433 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01325:Vmn2r80
|
APN |
10 |
79,030,081 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01611:Vmn2r80
|
APN |
10 |
79,007,488 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01799:Vmn2r80
|
APN |
10 |
79,007,385 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01877:Vmn2r80
|
APN |
10 |
79,007,334 (GRCm39) |
splice site |
probably null |
|
IGL02673:Vmn2r80
|
APN |
10 |
79,005,318 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02756:Vmn2r80
|
APN |
10 |
79,030,145 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02820:Vmn2r80
|
APN |
10 |
79,007,439 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03382:Vmn2r80
|
APN |
10 |
79,005,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R0071:Vmn2r80
|
UTSW |
10 |
79,007,566 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0071:Vmn2r80
|
UTSW |
10 |
79,007,566 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0129:Vmn2r80
|
UTSW |
10 |
79,005,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R0325:Vmn2r80
|
UTSW |
10 |
78,984,773 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0567:Vmn2r80
|
UTSW |
10 |
79,030,665 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1510:Vmn2r80
|
UTSW |
10 |
79,005,553 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1519:Vmn2r80
|
UTSW |
10 |
79,030,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R1520:Vmn2r80
|
UTSW |
10 |
79,030,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R1627:Vmn2r80
|
UTSW |
10 |
79,030,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R1709:Vmn2r80
|
UTSW |
10 |
79,030,223 (GRCm39) |
missense |
probably benign |
0.04 |
R2116:Vmn2r80
|
UTSW |
10 |
79,030,558 (GRCm39) |
missense |
probably benign |
0.09 |
R2308:Vmn2r80
|
UTSW |
10 |
79,007,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R2893:Vmn2r80
|
UTSW |
10 |
78,984,699 (GRCm39) |
missense |
possibly damaging |
0.63 |
R3408:Vmn2r80
|
UTSW |
10 |
79,004,227 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4502:Vmn2r80
|
UTSW |
10 |
78,984,764 (GRCm39) |
missense |
probably benign |
0.00 |
R4685:Vmn2r80
|
UTSW |
10 |
79,030,162 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4851:Vmn2r80
|
UTSW |
10 |
79,030,156 (GRCm39) |
missense |
possibly damaging |
0.68 |
R4947:Vmn2r80
|
UTSW |
10 |
79,030,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R5112:Vmn2r80
|
UTSW |
10 |
79,030,292 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5217:Vmn2r80
|
UTSW |
10 |
79,004,980 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5226:Vmn2r80
|
UTSW |
10 |
79,029,874 (GRCm39) |
missense |
probably benign |
0.36 |
R5512:Vmn2r80
|
UTSW |
10 |
79,004,066 (GRCm39) |
missense |
probably benign |
0.00 |
R5618:Vmn2r80
|
UTSW |
10 |
78,984,755 (GRCm39) |
missense |
probably benign |
|
R5959:Vmn2r80
|
UTSW |
10 |
79,005,313 (GRCm39) |
missense |
probably benign |
0.00 |
R6104:Vmn2r80
|
UTSW |
10 |
78,984,854 (GRCm39) |
missense |
probably benign |
0.00 |
R6110:Vmn2r80
|
UTSW |
10 |
79,017,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R6270:Vmn2r80
|
UTSW |
10 |
79,030,159 (GRCm39) |
missense |
probably benign |
0.00 |
R6508:Vmn2r80
|
UTSW |
10 |
79,030,290 (GRCm39) |
missense |
probably benign |
0.03 |
R6843:Vmn2r80
|
UTSW |
10 |
79,005,502 (GRCm39) |
missense |
probably benign |
0.08 |
R6894:Vmn2r80
|
UTSW |
10 |
79,005,438 (GRCm39) |
missense |
probably benign |
0.06 |
R7048:Vmn2r80
|
UTSW |
10 |
79,030,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R7149:Vmn2r80
|
UTSW |
10 |
79,030,654 (GRCm39) |
missense |
probably benign |
0.00 |
R7262:Vmn2r80
|
UTSW |
10 |
79,005,579 (GRCm39) |
missense |
probably damaging |
0.98 |
R7559:Vmn2r80
|
UTSW |
10 |
79,030,459 (GRCm39) |
missense |
probably benign |
0.00 |
R7622:Vmn2r80
|
UTSW |
10 |
79,030,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R8003:Vmn2r80
|
UTSW |
10 |
78,984,711 (GRCm39) |
missense |
probably benign |
0.16 |
R8207:Vmn2r80
|
UTSW |
10 |
79,030,150 (GRCm39) |
nonsense |
probably null |
|
R8330:Vmn2r80
|
UTSW |
10 |
79,007,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R8337:Vmn2r80
|
UTSW |
10 |
78,984,707 (GRCm39) |
missense |
probably benign |
0.00 |
R8354:Vmn2r80
|
UTSW |
10 |
78,984,710 (GRCm39) |
missense |
probably benign |
|
R8688:Vmn2r80
|
UTSW |
10 |
79,004,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R8903:Vmn2r80
|
UTSW |
10 |
79,017,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R9088:Vmn2r80
|
UTSW |
10 |
79,005,378 (GRCm39) |
missense |
probably benign |
0.05 |
R9125:Vmn2r80
|
UTSW |
10 |
78,984,760 (GRCm39) |
missense |
probably benign |
0.12 |
R9147:Vmn2r80
|
UTSW |
10 |
79,030,687 (GRCm39) |
missense |
probably damaging |
0.98 |
R9148:Vmn2r80
|
UTSW |
10 |
79,030,687 (GRCm39) |
missense |
probably damaging |
0.98 |
R9187:Vmn2r80
|
UTSW |
10 |
79,030,438 (GRCm39) |
missense |
probably benign |
0.20 |
R9218:Vmn2r80
|
UTSW |
10 |
79,030,270 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9553:Vmn2r80
|
UTSW |
10 |
78,984,743 (GRCm39) |
missense |
probably benign |
|
R9612:Vmn2r80
|
UTSW |
10 |
79,030,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R9677:Vmn2r80
|
UTSW |
10 |
78,984,672 (GRCm39) |
missense |
probably benign |
0.15 |
R9769:Vmn2r80
|
UTSW |
10 |
79,005,443 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,441 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,232 (GRCm39) |
missense |
possibly damaging |
0.65 |
Z1176:Vmn2r80
|
UTSW |
10 |
79,005,311 (GRCm39) |
missense |
not run |
|
Z1176:Vmn2r80
|
UTSW |
10 |
79,030,605 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Vmn2r80
|
UTSW |
10 |
79,005,311 (GRCm39) |
missense |
not run |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTACGTGTTCTAAGCAAACACAACC -3'
(R):5'- TGCTCTCACCTGAGGAAATTTG -3'
Sequencing Primer
(F):5'- CCATTCAAAGTATAGAACTAGTGCAC -3'
(R):5'- GCTCTCACCTGAGGAAATTTGTAAAG -3'
|
Posted On |
2014-10-15 |