Incidental Mutation 'R6843:Vmn2r80'
ID |
534631 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r80
|
Ensembl Gene |
ENSMUSG00000091888 |
Gene Name |
vomeronasal 2, receptor 80 |
Synonyms |
EG624765 |
MMRRC Submission |
044949-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R6843 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
78984650-79030767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 79005502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 380
(Q380K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
AlphaFold |
E9Q1L0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165834
AA Change: Q380K
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000132299 Gene: ENSMUSG00000091888 AA Change: Q380K
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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,615,360 (GRCm39) |
Q78L |
probably benign |
Het |
Akr1c21 |
A |
G |
13: 4,625,213 (GRCm39) |
H48R |
probably damaging |
Het |
Anks1b |
T |
A |
10: 90,784,460 (GRCm39) |
S1143T |
probably damaging |
Het |
Apip |
T |
G |
2: 102,922,834 (GRCm39) |
F217L |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,892,695 (GRCm39) |
Y1525N |
probably damaging |
Het |
Bcl2l13 |
G |
A |
6: 120,825,578 (GRCm39) |
|
probably null |
Het |
Cep85 |
C |
G |
4: 133,883,167 (GRCm39) |
A241P |
probably benign |
Het |
Clk4 |
T |
G |
11: 51,167,076 (GRCm39) |
|
probably null |
Het |
Cnr2 |
C |
T |
4: 135,644,900 (GRCm39) |
P326L |
probably benign |
Het |
Cryaa |
A |
G |
17: 31,897,147 (GRCm39) |
D58G |
possibly damaging |
Het |
Crybg3 |
G |
A |
16: 59,380,159 (GRCm39) |
T365M |
probably benign |
Het |
Csmd2 |
A |
G |
4: 128,357,587 (GRCm39) |
N1683D |
probably benign |
Het |
Dbx2 |
T |
G |
15: 95,552,340 (GRCm39) |
I102L |
possibly damaging |
Het |
Dll4 |
A |
T |
2: 119,156,475 (GRCm39) |
|
probably benign |
Het |
Epb42 |
T |
A |
2: 120,858,166 (GRCm39) |
Y264F |
possibly damaging |
Het |
Exoc3l |
T |
A |
8: 106,016,729 (GRCm39) |
H695L |
probably benign |
Het |
Fhip1a |
G |
A |
3: 85,580,352 (GRCm39) |
P618S |
probably damaging |
Het |
Ghsr |
A |
C |
3: 27,426,676 (GRCm39) |
D244A |
probably benign |
Het |
Gm9195 |
A |
G |
14: 72,678,651 (GRCm39) |
Y2268H |
possibly damaging |
Het |
Hdac1 |
A |
G |
4: 129,436,383 (GRCm39) |
Y14H |
probably damaging |
Het |
Hdac3 |
A |
T |
18: 38,075,007 (GRCm39) |
Y282N |
probably benign |
Het |
Heg1 |
T |
A |
16: 33,539,896 (GRCm39) |
N285K |
probably benign |
Het |
Igkv4-90 |
A |
G |
6: 68,784,670 (GRCm39) |
F8S |
possibly damaging |
Het |
Map2k1 |
A |
T |
9: 64,094,973 (GRCm39) |
D336E |
probably damaging |
Het |
Map4k2 |
A |
T |
19: 6,403,477 (GRCm39) |
I796F |
probably damaging |
Het |
Mapk13 |
T |
A |
17: 28,994,427 (GRCm39) |
|
probably null |
Het |
Mprip |
A |
G |
11: 59,650,554 (GRCm39) |
I1419M |
possibly damaging |
Het |
Nrap |
T |
C |
19: 56,368,651 (GRCm39) |
E255G |
probably damaging |
Het |
Oprl1 |
A |
G |
2: 181,357,547 (GRCm39) |
E11G |
probably damaging |
Het |
Or1i2 |
T |
C |
10: 78,447,891 (GRCm39) |
N195D |
probably damaging |
Het |
Or4f14 |
T |
C |
2: 111,743,260 (GRCm39) |
N5S |
probably damaging |
Het |
Or52b3 |
A |
G |
7: 102,203,928 (GRCm39) |
I146V |
probably benign |
Het |
Or5b99 |
G |
T |
19: 12,976,362 (GRCm39) |
C4F |
probably benign |
Het |
Or6c209 |
A |
G |
10: 129,483,048 (GRCm39) |
D17G |
possibly damaging |
Het |
Palmd |
T |
A |
3: 116,717,864 (GRCm39) |
D211V |
probably damaging |
Het |
Pcdhga11 |
A |
G |
18: 37,889,378 (GRCm39) |
N129D |
probably damaging |
Het |
Plekha6 |
T |
A |
1: 133,202,616 (GRCm39) |
M359K |
probably damaging |
Het |
Plekha7 |
G |
T |
7: 115,742,555 (GRCm39) |
H756Q |
probably benign |
Het |
Ppfibp2 |
C |
T |
7: 107,326,938 (GRCm39) |
P441S |
probably benign |
Het |
Ptprk |
T |
C |
10: 28,467,978 (GRCm39) |
I1373T |
possibly damaging |
Het |
Serpinb9g |
G |
T |
13: 33,676,900 (GRCm39) |
L227F |
probably damaging |
Het |
Snapc4 |
C |
A |
2: 26,263,611 (GRCm39) |
A11S |
probably benign |
Het |
Sqor |
T |
C |
2: 122,626,900 (GRCm39) |
V7A |
probably benign |
Het |
Sqor |
G |
T |
2: 122,651,215 (GRCm39) |
G437V |
probably damaging |
Het |
Srrm3 |
T |
C |
5: 135,881,135 (GRCm39) |
V145A |
probably benign |
Het |
Stx1b |
G |
A |
7: 127,414,151 (GRCm39) |
Q72* |
probably null |
Het |
Syt7 |
A |
G |
19: 10,399,135 (GRCm39) |
D77G |
probably damaging |
Het |
Tvp23a |
G |
A |
16: 10,264,884 (GRCm39) |
A9V |
probably benign |
Het |
Vmn1r66 |
T |
A |
7: 10,008,692 (GRCm39) |
I114F |
probably damaging |
Het |
Xdh |
C |
T |
17: 74,230,125 (GRCm39) |
E269K |
probably damaging |
Het |
Zfp932 |
T |
C |
5: 110,156,581 (GRCm39) |
M92T |
probably benign |
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 |
R2237:Vmn2r80
|
UTSW |
10 |
79,004,104 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- GAATTATCCCATGGGGCTCTC -3'
(R):5'- AAAGCCTCTGTTGTCATATTGGGG -3'
Sequencing Primer
(F):5'- AATTATCCCATGGGGCTCTCATTTTC -3'
(R):5'- GTAATTTCACATTACCTGCCAGGGG -3'
|
Posted On |
2018-09-12 |