Incidental Mutation 'R7262:Vmn2r80'
ID |
564694 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r80
|
Ensembl Gene |
ENSMUSG00000091888 |
Gene Name |
vomeronasal 2, receptor 80 |
Synonyms |
EG624765 |
MMRRC Submission |
045353-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R7262 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
78984650-79030767 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 79005579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 405
(N405K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165834]
|
AlphaFold |
E9Q1L0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165834
AA Change: N405K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000132299 Gene: ENSMUSG00000091888 AA Change: N405K
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
A |
G |
16: 30,946,137 (GRCm39) |
|
probably null |
Het |
Adh5 |
C |
A |
3: 138,151,133 (GRCm39) |
A32D |
possibly damaging |
Het |
Ap1m2 |
A |
G |
9: 21,213,762 (GRCm39) |
I295T |
possibly damaging |
Het |
B230104I21Rik |
T |
C |
4: 154,434,091 (GRCm39) |
S92P |
unknown |
Het |
Carnmt1 |
A |
T |
19: 18,655,228 (GRCm39) |
N127I |
probably benign |
Het |
Ccdc42 |
A |
G |
11: 68,485,399 (GRCm39) |
T106A |
probably damaging |
Het |
Cdcp1 |
T |
C |
9: 123,002,680 (GRCm39) |
E797G |
probably damaging |
Het |
Cep112 |
T |
A |
11: 108,555,467 (GRCm39) |
V821D |
probably damaging |
Het |
Cpvl |
A |
T |
6: 53,909,500 (GRCm39) |
V212D |
probably damaging |
Het |
Cttnbp2nl |
A |
T |
3: 104,940,062 (GRCm39) |
N2K |
probably damaging |
Het |
Cyp2c69 |
T |
C |
19: 39,875,176 (GRCm39) |
|
probably benign |
Het |
Cyp2u1 |
T |
C |
3: 131,091,605 (GRCm39) |
D305G |
probably damaging |
Het |
Dab2ip |
A |
G |
2: 35,512,298 (GRCm39) |
|
probably null |
Het |
Ddx55 |
T |
C |
5: 124,704,919 (GRCm39) |
L396P |
probably benign |
Het |
Dhx34 |
G |
A |
7: 15,937,623 (GRCm39) |
A786V |
probably benign |
Het |
Efcab3 |
G |
A |
11: 104,745,432 (GRCm39) |
|
probably null |
Het |
Ehbp1l1 |
A |
T |
19: 5,768,474 (GRCm39) |
L943* |
probably null |
Het |
Epm2aip1 |
A |
G |
9: 111,101,728 (GRCm39) |
T234A |
probably benign |
Het |
Flot2 |
T |
C |
11: 77,948,175 (GRCm39) |
M145T |
probably damaging |
Het |
Fn3k |
T |
C |
11: 121,339,741 (GRCm39) |
F168L |
probably damaging |
Het |
Gmfb |
A |
T |
14: 47,052,386 (GRCm39) |
C87S |
probably damaging |
Het |
H2-M3 |
T |
C |
17: 37,582,084 (GRCm39) |
F180S |
probably damaging |
Het |
Havcr2 |
C |
T |
11: 46,360,388 (GRCm39) |
T205I |
probably benign |
Het |
Hdac3 |
C |
T |
18: 38,078,616 (GRCm39) |
C123Y |
probably damaging |
Het |
Itpk1 |
T |
C |
12: 102,641,712 (GRCm39) |
E37G |
possibly damaging |
Het |
Jmjd7 |
A |
G |
2: 119,862,467 (GRCm39) |
H283R |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,745,219 (GRCm39) |
S1772P |
possibly damaging |
Het |
Klhl6 |
T |
C |
16: 19,801,546 (GRCm39) |
T70A |
probably damaging |
Het |
Kntc1 |
C |
A |
5: 123,925,036 (GRCm39) |
D1116E |
probably benign |
Het |
Lama4 |
T |
A |
10: 38,970,930 (GRCm39) |
H1498Q |
probably damaging |
Het |
Lamp1 |
A |
T |
8: 13,217,296 (GRCm39) |
T102S |
probably benign |
Het |
Lrp8 |
A |
G |
4: 107,704,661 (GRCm39) |
N168D |
probably benign |
Het |
Ltbp1 |
G |
T |
17: 75,671,363 (GRCm39) |
D1515Y |
probably damaging |
Het |
Obscn |
A |
G |
11: 59,006,715 (GRCm39) |
V1149A |
probably damaging |
Het |
Or10q1 |
A |
T |
19: 13,726,535 (GRCm39) |
T22S |
probably benign |
Het |
Or4f6 |
A |
G |
2: 111,838,902 (GRCm39) |
S210P |
probably damaging |
Het |
Or52ad1 |
T |
C |
7: 102,995,764 (GRCm39) |
R124G |
probably damaging |
Het |
Pak4 |
C |
A |
7: 28,264,625 (GRCm39) |
M92I |
possibly damaging |
Het |
Pam |
T |
C |
1: 97,782,448 (GRCm39) |
K157R |
|
Het |
Pcdh9 |
A |
T |
14: 93,253,141 (GRCm39) |
V1174E |
probably benign |
Het |
Phf8-ps |
G |
A |
17: 33,285,971 (GRCm39) |
T277I |
probably damaging |
Het |
Ppp1r3a |
T |
C |
6: 14,719,069 (GRCm39) |
D615G |
probably benign |
Het |
Senp1 |
A |
T |
15: 97,964,379 (GRCm39) |
D278E |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,817,229 (GRCm39) |
N108D |
probably damaging |
Het |
Srl |
C |
A |
16: 4,315,415 (GRCm39) |
A76S |
probably damaging |
Het |
Tbc1d16 |
C |
A |
11: 119,045,921 (GRCm39) |
V509L |
probably benign |
Het |
Tbc1d24 |
A |
G |
17: 24,426,820 (GRCm39) |
F357S |
probably damaging |
Het |
Tcaf3 |
A |
G |
6: 42,570,735 (GRCm39) |
L339P |
probably damaging |
Het |
Tmem232 |
A |
T |
17: 65,807,112 (GRCm39) |
I27N |
probably benign |
Het |
Ubr2 |
T |
C |
17: 47,311,665 (GRCm39) |
D62G |
probably damaging |
Het |
Vcan |
T |
G |
13: 89,853,280 (GRCm39) |
D560A |
possibly damaging |
Het |
Wdhd1 |
A |
T |
14: 47,489,430 (GRCm39) |
I701K |
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 |
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 |
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'- AAGTTTATGCAAGAAGCCACCC -3'
(R):5'- GGTGCACTCATCATGCTTATAGAC -3'
Sequencing Primer
(F):5'- TTTATGCAAGAAGCCACCCCAAAC -3'
(R):5'- CCTCTGTTGTCATATTGGGG -3'
|
Posted On |
2019-06-26 |