Incidental Mutation 'R7510:Vmn2r1'
ID |
582013 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r1
|
Ensembl Gene |
ENSMUSG00000027824 |
Gene Name |
vomeronasal 2, receptor 1 |
Synonyms |
V2r83, EG56544 |
MMRRC Submission |
045583-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R7510 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
63988968-64016905 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 63993922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 89
(K89N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029406
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029406]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029406
AA Change: K89N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000029406 Gene: ENSMUSG00000027824 AA Change: K89N
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
86 |
504 |
6e-92 |
PFAM |
Pfam:NCD3G
|
546 |
599 |
2.4e-17 |
PFAM |
Pfam:7tm_3
|
632 |
866 |
4.1e-48 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.0%
|
Validation Efficiency |
97% (65/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp2b1 |
C |
T |
10: 98,829,758 (GRCm39) |
R320C |
probably benign |
Het |
Bend4 |
A |
G |
5: 67,584,727 (GRCm39) |
F66L |
unknown |
Het |
Brca2 |
T |
C |
5: 150,460,156 (GRCm39) |
V477A |
possibly damaging |
Het |
Brms1l |
A |
T |
12: 55,892,107 (GRCm39) |
K134* |
probably null |
Het |
Catsper1 |
A |
T |
19: 5,389,578 (GRCm39) |
T498S |
probably benign |
Het |
Ccdc177 |
C |
A |
12: 80,804,457 (GRCm39) |
V606L |
unknown |
Het |
D030056L22Rik |
G |
T |
19: 18,690,853 (GRCm39) |
A56S |
possibly damaging |
Het |
Disp1 |
T |
C |
1: 182,869,975 (GRCm39) |
N815S |
probably damaging |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Fancf |
A |
G |
7: 51,511,953 (GRCm39) |
V17A |
probably damaging |
Het |
Fastkd2 |
T |
A |
1: 63,776,948 (GRCm39) |
H361Q |
possibly damaging |
Het |
Furin |
A |
G |
7: 80,043,333 (GRCm39) |
S293P |
probably damaging |
Het |
Ghsr |
A |
T |
3: 27,426,523 (GRCm39) |
D193V |
probably benign |
Het |
Gm14403 |
T |
A |
2: 177,200,403 (GRCm39) |
N116K |
probably benign |
Het |
Gpr31b |
A |
G |
17: 13,270,557 (GRCm39) |
L204P |
probably damaging |
Het |
Hexim1 |
A |
G |
11: 103,008,067 (GRCm39) |
E107G |
probably benign |
Het |
Hspa14 |
T |
C |
2: 3,499,159 (GRCm39) |
S212G |
probably benign |
Het |
Il18r1 |
T |
A |
1: 40,514,035 (GRCm39) |
H80Q |
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,308,013 (GRCm39) |
T267A |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,042,268 (GRCm39) |
H146Q |
possibly damaging |
Het |
Larp4 |
T |
C |
15: 99,891,258 (GRCm39) |
F228L |
probably benign |
Het |
Ltbp1 |
T |
A |
17: 75,659,712 (GRCm39) |
V1288E |
probably damaging |
Het |
Madd |
T |
C |
2: 91,008,321 (GRCm39) |
T194A |
possibly damaging |
Het |
Mlana |
G |
A |
19: 29,682,072 (GRCm39) |
G42S |
probably benign |
Het |
Mlxipl |
A |
G |
5: 135,161,972 (GRCm39) |
E548G |
possibly damaging |
Het |
Mmab |
A |
T |
5: 114,573,283 (GRCm39) |
C228S |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nrf1 |
C |
T |
6: 30,151,633 (GRCm39) |
T490I |
possibly damaging |
Het |
Numbl |
A |
G |
7: 26,971,412 (GRCm39) |
|
probably null |
Het |
Or12e13 |
T |
A |
2: 87,663,872 (GRCm39) |
I163K |
probably damaging |
Het |
Or13c7 |
A |
G |
4: 43,854,482 (GRCm39) |
T58A |
probably benign |
Het |
Or5bw2 |
C |
T |
7: 6,572,960 (GRCm39) |
|
probably benign |
Het |
Or5v1b |
T |
A |
17: 37,841,480 (GRCm39) |
I204N |
probably damaging |
Het |
Or6c3b |
G |
T |
10: 129,527,789 (GRCm39) |
N40K |
probably damaging |
Het |
Or9g8 |
T |
A |
2: 85,607,153 (GRCm39) |
V75D |
probably damaging |
Het |
Papln |
G |
A |
12: 83,818,947 (GRCm39) |
D96N |
probably damaging |
Het |
Pcdhb14 |
T |
C |
18: 37,582,645 (GRCm39) |
Y584H |
probably damaging |
Het |
Pde7b |
T |
C |
10: 20,288,761 (GRCm39) |
D310G |
possibly damaging |
Het |
Plin5 |
T |
A |
17: 56,420,975 (GRCm39) |
H230L |
probably damaging |
Het |
Ppp1r13l |
A |
C |
7: 19,102,726 (GRCm39) |
E47A |
possibly damaging |
Het |
Prdm5 |
C |
T |
6: 65,904,976 (GRCm39) |
H536Y |
probably damaging |
Het |
Prickle2 |
T |
C |
6: 92,353,451 (GRCm39) |
R728G |
possibly damaging |
Het |
Prkca |
A |
T |
11: 107,874,820 (GRCm39) |
V374E |
possibly damaging |
Het |
Prss3 |
A |
T |
6: 41,352,044 (GRCm39) |
L73* |
probably null |
Het |
Prss51 |
G |
A |
14: 64,333,489 (GRCm39) |
D33N |
probably damaging |
Het |
Rfwd3 |
A |
G |
8: 112,006,659 (GRCm39) |
V479A |
probably damaging |
Het |
Rpl36a-ps1 |
G |
A |
14: 99,231,666 (GRCm39) |
T24I |
probably benign |
Het |
Rps6ka5 |
T |
C |
12: 100,582,327 (GRCm39) |
I182V |
possibly damaging |
Het |
Saa2 |
T |
A |
7: 46,402,933 (GRCm39) |
D61E |
probably damaging |
Het |
Samd3 |
A |
T |
10: 26,106,006 (GRCm39) |
I22F |
probably benign |
Het |
Sap130 |
C |
T |
18: 31,800,057 (GRCm39) |
P403L |
probably damaging |
Het |
Sap130 |
A |
G |
18: 31,844,268 (GRCm39) |
T813A |
probably damaging |
Het |
Scfd2 |
A |
G |
5: 74,372,988 (GRCm39) |
F629S |
probably damaging |
Het |
Sec61a1 |
A |
T |
6: 88,489,585 (GRCm39) |
F119I |
probably benign |
Het |
Serpinb9 |
T |
A |
13: 33,194,768 (GRCm39) |
F175I |
probably damaging |
Het |
Slc12a3 |
G |
T |
8: 95,092,477 (GRCm39) |
C966F |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,127,693 (GRCm39) |
V169A |
probably benign |
Het |
Synj1 |
A |
G |
16: 90,735,565 (GRCm39) |
S1463P |
probably benign |
Het |
Tfec |
T |
A |
6: 16,835,232 (GRCm39) |
H182L |
probably benign |
Het |
Tigd5 |
T |
C |
15: 75,782,268 (GRCm39) |
V210A |
probably benign |
Het |
Tssc4 |
G |
A |
7: 142,623,718 (GRCm39) |
E9K |
possibly damaging |
Het |
Txk |
C |
G |
5: 72,893,726 (GRCm39) |
C18S |
unknown |
Het |
Uaca |
G |
A |
9: 60,757,487 (GRCm39) |
|
probably null |
Het |
Zfp160 |
G |
A |
17: 21,246,655 (GRCm39) |
E402K |
probably benign |
Het |
|
Other mutations in Vmn2r1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00233:Vmn2r1
|
APN |
3 |
64,012,389 (GRCm39) |
nonsense |
probably null |
|
IGL00335:Vmn2r1
|
APN |
3 |
64,012,809 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01509:Vmn2r1
|
APN |
3 |
64,010,466 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01641:Vmn2r1
|
APN |
3 |
64,011,924 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01656:Vmn2r1
|
APN |
3 |
63,989,274 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01927:Vmn2r1
|
APN |
3 |
63,989,105 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02093:Vmn2r1
|
APN |
3 |
64,012,130 (GRCm39) |
missense |
probably benign |
|
IGL02146:Vmn2r1
|
APN |
3 |
64,012,104 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02186:Vmn2r1
|
APN |
3 |
63,989,138 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02320:Vmn2r1
|
APN |
3 |
63,989,180 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02423:Vmn2r1
|
APN |
3 |
63,997,665 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02709:Vmn2r1
|
APN |
3 |
64,012,355 (GRCm39) |
missense |
probably benign |
0.24 |
R0034:Vmn2r1
|
UTSW |
3 |
63,997,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R0064:Vmn2r1
|
UTSW |
3 |
64,012,209 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0152:Vmn2r1
|
UTSW |
3 |
63,989,240 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0305:Vmn2r1
|
UTSW |
3 |
63,997,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R0314:Vmn2r1
|
UTSW |
3 |
63,993,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R0317:Vmn2r1
|
UTSW |
3 |
63,989,240 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0465:Vmn2r1
|
UTSW |
3 |
63,989,180 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1144:Vmn2r1
|
UTSW |
3 |
63,997,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R1163:Vmn2r1
|
UTSW |
3 |
63,994,046 (GRCm39) |
missense |
probably benign |
0.03 |
R1448:Vmn2r1
|
UTSW |
3 |
64,008,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R1491:Vmn2r1
|
UTSW |
3 |
63,997,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R1543:Vmn2r1
|
UTSW |
3 |
63,996,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R1611:Vmn2r1
|
UTSW |
3 |
64,011,958 (GRCm39) |
nonsense |
probably null |
|
R1676:Vmn2r1
|
UTSW |
3 |
63,997,603 (GRCm39) |
nonsense |
probably null |
|
R1727:Vmn2r1
|
UTSW |
3 |
63,989,163 (GRCm39) |
missense |
probably benign |
|
R1851:Vmn2r1
|
UTSW |
3 |
64,008,926 (GRCm39) |
missense |
probably benign |
0.32 |
R3080:Vmn2r1
|
UTSW |
3 |
63,997,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R3790:Vmn2r1
|
UTSW |
3 |
63,994,185 (GRCm39) |
critical splice donor site |
probably null |
|
R4111:Vmn2r1
|
UTSW |
3 |
63,997,176 (GRCm39) |
missense |
probably benign |
0.23 |
R4689:Vmn2r1
|
UTSW |
3 |
64,012,074 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4747:Vmn2r1
|
UTSW |
3 |
63,989,267 (GRCm39) |
missense |
probably benign |
0.00 |
R4970:Vmn2r1
|
UTSW |
3 |
63,997,544 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5033:Vmn2r1
|
UTSW |
3 |
64,012,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R5086:Vmn2r1
|
UTSW |
3 |
63,997,418 (GRCm39) |
missense |
probably benign |
0.00 |
R5112:Vmn2r1
|
UTSW |
3 |
63,997,544 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5385:Vmn2r1
|
UTSW |
3 |
64,008,819 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5629:Vmn2r1
|
UTSW |
3 |
64,012,538 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5762:Vmn2r1
|
UTSW |
3 |
63,997,474 (GRCm39) |
missense |
probably benign |
0.24 |
R5867:Vmn2r1
|
UTSW |
3 |
64,011,990 (GRCm39) |
missense |
probably benign |
|
R5893:Vmn2r1
|
UTSW |
3 |
63,993,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R6037:Vmn2r1
|
UTSW |
3 |
63,989,150 (GRCm39) |
missense |
probably benign |
0.00 |
R6037:Vmn2r1
|
UTSW |
3 |
63,989,150 (GRCm39) |
missense |
probably benign |
0.00 |
R6290:Vmn2r1
|
UTSW |
3 |
64,012,873 (GRCm39) |
missense |
probably benign |
0.02 |
R6443:Vmn2r1
|
UTSW |
3 |
64,012,374 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6464:Vmn2r1
|
UTSW |
3 |
64,008,766 (GRCm39) |
missense |
probably benign |
|
R6826:Vmn2r1
|
UTSW |
3 |
64,012,567 (GRCm39) |
nonsense |
probably null |
|
R6874:Vmn2r1
|
UTSW |
3 |
64,012,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R6882:Vmn2r1
|
UTSW |
3 |
63,997,529 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6983:Vmn2r1
|
UTSW |
3 |
63,989,118 (GRCm39) |
missense |
probably benign |
|
R7010:Vmn2r1
|
UTSW |
3 |
64,012,146 (GRCm39) |
missense |
probably benign |
0.19 |
R7144:Vmn2r1
|
UTSW |
3 |
63,997,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R7341:Vmn2r1
|
UTSW |
3 |
64,012,877 (GRCm39) |
makesense |
probably null |
|
R7557:Vmn2r1
|
UTSW |
3 |
63,997,475 (GRCm39) |
missense |
probably damaging |
0.99 |
R7895:Vmn2r1
|
UTSW |
3 |
63,997,130 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8108:Vmn2r1
|
UTSW |
3 |
64,010,471 (GRCm39) |
missense |
probably damaging |
0.98 |
R8209:Vmn2r1
|
UTSW |
3 |
63,997,199 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8365:Vmn2r1
|
UTSW |
3 |
63,994,034 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8514:Vmn2r1
|
UTSW |
3 |
63,993,942 (GRCm39) |
missense |
probably benign |
0.11 |
R8554:Vmn2r1
|
UTSW |
3 |
63,997,334 (GRCm39) |
missense |
probably damaging |
0.98 |
R8980:Vmn2r1
|
UTSW |
3 |
64,010,501 (GRCm39) |
missense |
|
|
R9140:Vmn2r1
|
UTSW |
3 |
63,997,465 (GRCm39) |
missense |
probably benign |
0.05 |
R9239:Vmn2r1
|
UTSW |
3 |
64,011,959 (GRCm39) |
missense |
probably damaging |
0.99 |
R9441:Vmn2r1
|
UTSW |
3 |
64,012,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R9549:Vmn2r1
|
UTSW |
3 |
63,997,493 (GRCm39) |
missense |
probably benign |
0.17 |
R9771:Vmn2r1
|
UTSW |
3 |
63,997,559 (GRCm39) |
missense |
possibly damaging |
0.79 |
X0065:Vmn2r1
|
UTSW |
3 |
63,997,678 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCAAAAGTTGCTTCCCAAGATTAC -3'
(R):5'- GCTGCTAGAGTTGATCCAGTG -3'
Sequencing Primer
(F):5'- AAGTTGCTTCCCAAGATTACTAATC -3'
(R):5'- GCTAGAGTTGATCCAGTGCTATTTC -3'
|
Posted On |
2019-10-17 |