Incidental Mutation 'R4689:Vmn2r1'
ID |
354759 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r1
|
Ensembl Gene |
ENSMUSG00000027824 |
Gene Name |
vomeronasal 2, receptor 1 |
Synonyms |
V2r83, EG56544 |
MMRRC Submission |
041940-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.111)
|
Stock # |
R4689 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
63988968-64016905 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64012074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 645
(H645R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029406
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029406]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029406
AA Change: H645R
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029406 Gene: ENSMUSG00000027824 AA Change: H645R
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158414
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
97% (72/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
C |
A |
17: 46,634,996 (GRCm39) |
V336L |
probably benign |
Het |
Acbd4 |
T |
C |
11: 102,996,194 (GRCm39) |
L165P |
possibly damaging |
Het |
Adam10 |
T |
C |
9: 70,673,236 (GRCm39) |
S456P |
possibly damaging |
Het |
Adgre4 |
T |
C |
17: 56,109,096 (GRCm39) |
F368L |
probably damaging |
Het |
Ahcyl1 |
G |
T |
3: 107,572,834 (GRCm39) |
Y528* |
probably null |
Het |
Aldh3b3 |
G |
A |
19: 4,014,516 (GRCm39) |
V84M |
probably damaging |
Het |
Cdca8 |
C |
T |
4: 124,824,896 (GRCm39) |
G78E |
probably damaging |
Het |
Cry2 |
T |
C |
2: 92,254,899 (GRCm39) |
D152G |
probably benign |
Het |
Cyp2c67 |
T |
C |
19: 39,627,032 (GRCm39) |
Y266C |
probably benign |
Het |
Dkk4 |
T |
C |
8: 23,115,336 (GRCm39) |
F62S |
probably benign |
Het |
Dnah12 |
G |
A |
14: 26,427,994 (GRCm39) |
V207I |
probably benign |
Het |
Dthd1 |
T |
C |
5: 63,000,255 (GRCm39) |
C526R |
probably damaging |
Het |
Dubr |
A |
T |
16: 50,552,866 (GRCm39) |
|
noncoding transcript |
Het |
F5 |
T |
C |
1: 163,979,542 (GRCm39) |
|
probably benign |
Het |
Flcn |
A |
C |
11: 59,691,870 (GRCm39) |
W260G |
possibly damaging |
Het |
Fmnl1 |
G |
A |
11: 103,084,562 (GRCm39) |
|
probably null |
Het |
Frem2 |
A |
T |
3: 53,455,056 (GRCm39) |
D2173E |
probably benign |
Het |
Fstl4 |
C |
T |
11: 52,959,477 (GRCm39) |
Q173* |
probably null |
Het |
Gfra3 |
G |
A |
18: 34,823,640 (GRCm39) |
P381S |
unknown |
Het |
Gm28308 |
C |
A |
6: 52,190,291 (GRCm39) |
|
probably benign |
Het |
Gm8730 |
T |
A |
8: 103,592,379 (GRCm39) |
|
noncoding transcript |
Het |
Gzmd |
T |
C |
14: 56,368,683 (GRCm39) |
|
probably null |
Het |
Hexb |
A |
G |
13: 97,317,600 (GRCm39) |
Y366H |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,322,046 (GRCm39) |
H4566L |
probably benign |
Het |
Ifi213 |
G |
A |
1: 173,417,986 (GRCm39) |
T142I |
possibly damaging |
Het |
Kif13b |
T |
A |
14: 65,010,513 (GRCm39) |
C1271S |
probably damaging |
Het |
Krtap9-5 |
G |
T |
11: 99,840,286 (GRCm39) |
C329F |
unknown |
Het |
Larp1 |
G |
T |
11: 57,932,439 (GRCm39) |
G207W |
probably damaging |
Het |
Lfng |
A |
G |
5: 140,600,194 (GRCm39) |
D368G |
probably damaging |
Het |
Mbd5 |
G |
A |
2: 49,148,291 (GRCm39) |
V834I |
possibly damaging |
Het |
Mterf1b |
T |
A |
5: 4,247,263 (GRCm39) |
Y301* |
probably null |
Het |
Myh7b |
T |
C |
2: 155,472,434 (GRCm39) |
I1305T |
possibly damaging |
Het |
Myo16 |
T |
C |
8: 10,488,890 (GRCm39) |
V687A |
probably damaging |
Het |
Naip2 |
A |
T |
13: 100,285,320 (GRCm39) |
I1292N |
probably damaging |
Het |
Nmral1 |
A |
G |
16: 4,532,422 (GRCm39) |
F130L |
probably damaging |
Het |
Nos1 |
A |
G |
5: 118,017,450 (GRCm39) |
N271S |
probably benign |
Het |
Nrap |
A |
G |
19: 56,374,458 (GRCm39) |
S23P |
probably damaging |
Het |
Or12d16-ps1 |
A |
T |
17: 37,705,662 (GRCm39) |
N77I |
probably damaging |
Het |
Or2aj4 |
A |
T |
16: 19,385,263 (GRCm39) |
Y123* |
probably null |
Het |
Or4e2 |
T |
C |
14: 52,688,671 (GRCm39) |
I267T |
probably benign |
Het |
Or6c210 |
T |
C |
10: 129,496,185 (GRCm39) |
V170A |
probably benign |
Het |
Pkdcc |
C |
G |
17: 83,523,290 (GRCm39) |
C132W |
probably damaging |
Het |
Plekhg6 |
G |
A |
6: 125,350,144 (GRCm39) |
L265F |
probably benign |
Het |
Prkaa1 |
A |
G |
15: 5,208,177 (GRCm39) |
T473A |
probably benign |
Het |
Prpf3 |
G |
A |
3: 95,743,801 (GRCm39) |
Q451* |
probably null |
Het |
Psma5-ps |
T |
A |
10: 85,150,065 (GRCm39) |
|
noncoding transcript |
Het |
Ptprh |
T |
A |
7: 4,600,996 (GRCm39) |
D127V |
possibly damaging |
Het |
Rab36 |
T |
C |
10: 74,877,765 (GRCm39) |
|
probably null |
Het |
Rasa1 |
A |
T |
13: 85,386,282 (GRCm39) |
Y427* |
probably null |
Het |
Rgs11 |
T |
C |
17: 26,423,521 (GRCm39) |
|
probably null |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Shank2 |
G |
A |
7: 143,974,342 (GRCm39) |
V1087I |
probably benign |
Het |
Slc39a10 |
A |
C |
1: 46,875,173 (GRCm39) |
M43R |
probably benign |
Het |
Slc40a1 |
T |
A |
1: 45,951,473 (GRCm39) |
Q228L |
probably benign |
Het |
Slc45a1 |
A |
T |
4: 150,722,996 (GRCm39) |
L296Q |
probably benign |
Het |
Stambpl1 |
A |
G |
19: 34,213,691 (GRCm39) |
T307A |
probably benign |
Het |
Stt3a |
T |
C |
9: 36,644,225 (GRCm39) |
T705A |
possibly damaging |
Het |
Tec |
G |
A |
5: 72,980,980 (GRCm39) |
|
probably benign |
Het |
Trp63 |
A |
T |
16: 25,684,012 (GRCm39) |
T300S |
possibly damaging |
Het |
Vmn1r235 |
A |
G |
17: 21,482,623 (GRCm39) |
H316R |
probably benign |
Het |
Wdfy4 |
A |
G |
14: 32,831,505 (GRCm39) |
I907T |
possibly damaging |
Het |
Zcchc10 |
A |
G |
11: 53,218,151 (GRCm39) |
T33A |
probably benign |
Het |
Zfp318 |
T |
A |
17: 46,710,560 (GRCm39) |
V761D |
probably damaging |
Het |
Zfp358 |
T |
C |
8: 3,546,146 (GRCm39) |
|
probably null |
Het |
Zfp661 |
G |
A |
2: 127,419,468 (GRCm39) |
P224L |
probably damaging |
Het |
Zfp937 |
T |
C |
2: 150,078,706 (GRCm39) |
M33T |
probably damaging |
Het |
Zfp955a |
T |
C |
17: 33,461,040 (GRCm39) |
H364R |
probably damaging |
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 |
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 |
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'- AGGGAATGTGATCCATGCGG -3'
(R):5'- AGACGGGTTTTAGATACAGAAATCC -3'
Sequencing Primer
(F):5'- TCCATGCGGTGAAGATGACTG -3'
(R):5'- AGAGTGAAATAGTCTTTCCAAGAATG -3'
|
Posted On |
2015-10-21 |