Incidental Mutation 'R8108:Vmn2r1'
ID |
630716 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r1
|
Ensembl Gene |
ENSMUSG00000027824 |
Gene Name |
vomeronasal 2, receptor 1 |
Synonyms |
V2r83, EG56544 |
MMRRC Submission |
067537-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R8108 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
63988968-64016905 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 64010471 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 570
(C570S)
|
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: C570S
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029406 Gene: ENSMUSG00000027824 AA Change: C570S
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: 99.9%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.3%
|
Validation Efficiency |
99% (72/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
A |
T |
4: 144,397,239 (GRCm39) |
N164K |
probably benign |
Het |
Acot1 |
T |
A |
12: 84,064,135 (GRCm39) |
H414Q |
probably benign |
Het |
Actrt2 |
A |
T |
4: 154,751,493 (GRCm39) |
D214E |
probably benign |
Het |
Afg2a |
T |
C |
3: 37,485,931 (GRCm39) |
S218P |
probably benign |
Het |
Ccdc7a |
T |
C |
8: 129,706,634 (GRCm39) |
T332A |
unknown |
Het |
Chd9 |
C |
T |
8: 91,659,852 (GRCm39) |
H271Y |
unknown |
Het |
Depdc5 |
T |
G |
5: 33,102,393 (GRCm39) |
D966E |
probably benign |
Het |
Dolpp1 |
A |
G |
2: 30,286,258 (GRCm39) |
Y119C |
probably benign |
Het |
Dscam |
G |
C |
16: 96,445,079 (GRCm39) |
D1537E |
probably benign |
Het |
Dusp16 |
A |
G |
6: 134,716,836 (GRCm39) |
I157T |
probably benign |
Het |
Dyrk2 |
T |
C |
10: 118,695,734 (GRCm39) |
D508G |
probably benign |
Het |
Endov |
T |
C |
11: 119,398,237 (GRCm39) |
V334A |
probably benign |
Het |
Ep400 |
A |
T |
5: 110,835,749 (GRCm39) |
V1956E |
unknown |
Het |
Erich3 |
A |
T |
3: 154,425,752 (GRCm39) |
Y83F |
possibly damaging |
Het |
Fbrsl1 |
T |
C |
5: 110,526,245 (GRCm39) |
|
probably null |
Het |
Gm1110 |
T |
C |
9: 26,831,957 (GRCm39) |
I65V |
probably damaging |
Het |
Gm28374 |
A |
G |
19: 6,132,230 (GRCm39) |
V19A |
|
Het |
Gpr107 |
C |
A |
2: 31,074,881 (GRCm39) |
H336Q |
probably damaging |
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Grm1 |
C |
A |
10: 10,595,876 (GRCm39) |
R584L |
probably benign |
Het |
Gse1 |
T |
C |
8: 120,956,549 (GRCm39) |
S347P |
unknown |
Het |
Ier3ip1 |
T |
A |
18: 77,028,221 (GRCm39) |
I69K |
possibly damaging |
Het |
Impact |
T |
G |
18: 13,117,388 (GRCm39) |
L154V |
probably benign |
Het |
Katnb1 |
T |
C |
8: 95,820,573 (GRCm39) |
F141S |
possibly damaging |
Het |
Kifap3 |
T |
A |
1: 163,624,931 (GRCm39) |
N162K |
probably damaging |
Het |
Klhl5 |
A |
G |
5: 65,305,930 (GRCm39) |
|
probably null |
Het |
Klre1 |
A |
G |
6: 129,561,185 (GRCm39) |
D182G |
probably benign |
Het |
Krt42 |
T |
A |
11: 100,157,783 (GRCm39) |
Y227F |
probably benign |
Het |
Lhcgr |
T |
A |
17: 89,049,478 (GRCm39) |
K683* |
probably null |
Het |
Lrrc37a |
G |
A |
11: 103,393,883 (GRCm39) |
S514F |
probably benign |
Het |
Lrrc9 |
G |
T |
12: 72,500,833 (GRCm39) |
L186F |
probably damaging |
Het |
Metrn |
A |
G |
17: 26,014,004 (GRCm39) |
V274A |
probably benign |
Het |
Mettl25 |
A |
T |
10: 105,659,040 (GRCm39) |
F414L |
possibly damaging |
Het |
Mixl1 |
A |
G |
1: 180,524,267 (GRCm39) |
V104A |
probably damaging |
Het |
Myo9b |
T |
A |
8: 71,800,986 (GRCm39) |
M1047K |
probably damaging |
Het |
Nbea |
G |
A |
3: 55,726,736 (GRCm39) |
A2081V |
probably benign |
Het |
Ndufs1 |
A |
T |
1: 63,189,171 (GRCm39) |
D551E |
possibly damaging |
Het |
Nectin3 |
T |
C |
16: 46,284,484 (GRCm39) |
T67A |
possibly damaging |
Het |
Nme8 |
C |
T |
13: 19,835,130 (GRCm39) |
V519I |
probably benign |
Het |
Npat |
G |
T |
9: 53,482,429 (GRCm39) |
G1379V |
probably benign |
Het |
Obscn |
T |
A |
11: 58,952,460 (GRCm39) |
T3870S |
probably benign |
Het |
Or1e20-ps1 |
T |
A |
11: 73,324,680 (GRCm39) |
H124L |
unknown |
Het |
Or4g7 |
T |
C |
2: 111,309,579 (GRCm39) |
V150A |
possibly damaging |
Het |
Or5g23 |
T |
C |
2: 85,439,093 (GRCm39) |
R54G |
possibly damaging |
Het |
Or5k14 |
T |
C |
16: 58,692,599 (GRCm39) |
M305V |
probably benign |
Het |
Or7h8 |
T |
A |
9: 20,123,747 (GRCm39) |
M34K |
possibly damaging |
Het |
Or8b46 |
A |
G |
9: 38,450,706 (GRCm39) |
N172D |
probably damaging |
Het |
Parp8 |
A |
T |
13: 117,003,609 (GRCm39) |
Y769* |
probably null |
Het |
Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
Phldb1 |
T |
C |
9: 44,622,458 (GRCm39) |
E65G |
probably damaging |
Het |
Ppif |
C |
T |
14: 25,698,750 (GRCm39) |
T157M |
probably damaging |
Het |
Ppp3ca |
T |
A |
3: 136,637,986 (GRCm39) |
|
probably null |
Het |
Proser1 |
T |
A |
3: 53,379,509 (GRCm39) |
|
probably null |
Het |
Reg3d |
T |
A |
6: 78,353,062 (GRCm39) |
K174* |
probably null |
Het |
Rubcn |
A |
T |
16: 32,677,320 (GRCm39) |
L55Q |
probably damaging |
Het |
Sec14l3 |
T |
C |
11: 4,016,198 (GRCm39) |
L39P |
probably damaging |
Het |
Ska3 |
A |
G |
14: 58,063,559 (GRCm39) |
I4T |
probably damaging |
Het |
Slc30a10 |
A |
G |
1: 185,196,351 (GRCm39) |
I338V |
possibly damaging |
Het |
Slc35g1 |
C |
G |
19: 38,391,277 (GRCm39) |
S186R |
probably damaging |
Het |
Slc35g1 |
T |
A |
19: 38,391,279 (GRCm39) |
L187H |
probably damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,049,114 (GRCm39) |
I659V |
probably benign |
Het |
Tbl3 |
G |
T |
17: 24,919,890 (GRCm39) |
D751E |
probably benign |
Het |
Tdrd3 |
T |
A |
14: 87,723,702 (GRCm39) |
D311E |
possibly damaging |
Het |
Tenm4 |
T |
C |
7: 96,503,935 (GRCm39) |
F1335S |
probably benign |
Het |
Tm2d1 |
A |
T |
4: 98,263,260 (GRCm39) |
C83S |
probably damaging |
Het |
Tnfrsf22 |
A |
T |
7: 143,192,110 (GRCm39) |
V192D |
unknown |
Het |
Trpm6 |
A |
G |
19: 18,789,154 (GRCm39) |
T575A |
probably damaging |
Het |
Uri1 |
T |
C |
7: 37,681,098 (GRCm39) |
D102G |
possibly damaging |
Het |
Vps13a |
C |
T |
19: 16,618,151 (GRCm39) |
V2906I |
probably damaging |
Het |
Zfp472 |
T |
C |
17: 33,196,977 (GRCm39) |
Y351H |
possibly damaging |
Het |
Zfp874a |
G |
T |
13: 67,591,353 (GRCm39) |
Y110* |
probably null |
Het |
Zfp986 |
T |
A |
4: 145,625,875 (GRCm39) |
N178K |
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 |
|
R7510:Vmn2r1
|
UTSW |
3 |
63,993,922 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TTGCTTAGACTCCTGGGCTG -3'
(R):5'- AGGTCTGGTCTTATATCAGAAGTG -3'
Sequencing Primer
(F):5'- GCTTAGACTCCTGGGCTGATATC -3'
(R):5'- TGGTCATACTGCACACA -3'
|
Posted On |
2020-06-30 |