Incidental Mutation 'R6464:Vmn2r1'
| ID |
517720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r1
|
| Ensembl Gene |
ENSMUSG00000027824 |
| Gene Name |
vomeronasal 2, receptor 1 |
| Synonyms |
V2r83, EG56544 |
| MMRRC Submission |
044597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R6464 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
63988968-64016905 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 64008766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 482
(D482N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029406]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029406
AA Change: D482N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029406
Gene: ENSMUSG00000027824
AA Change: D482N
| 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: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,265,354 (GRCm39) |
S769T |
probably damaging |
Het |
| Apoe |
G |
A |
7: 19,431,461 (GRCm39) |
T52M |
probably damaging |
Het |
| Arhgef10l |
A |
C |
4: 140,314,126 (GRCm39) |
M230R |
probably benign |
Het |
| Cdkl4 |
A |
T |
17: 80,832,781 (GRCm39) |
I321N |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,481,391 (GRCm39) |
|
probably null |
Het |
| Cfap70 |
T |
C |
14: 20,451,107 (GRCm39) |
|
probably null |
Het |
| Clasp2 |
A |
G |
9: 113,602,785 (GRCm39) |
Y195C |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,520,779 (GRCm39) |
I999V |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,112,138 (GRCm39) |
D476G |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,666,152 (GRCm39) |
M1I |
probably null |
Het |
| Cyp27a1 |
T |
C |
1: 74,775,047 (GRCm39) |
V292A |
possibly damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,317,669 (GRCm39) |
Y385C |
probably damaging |
Het |
| Dsg3 |
A |
C |
18: 20,666,583 (GRCm39) |
R597S |
probably benign |
Het |
| Fam131c |
T |
C |
4: 141,109,653 (GRCm39) |
I95T |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,606,684 (GRCm39) |
C302* |
probably null |
Het |
| Fkbp15 |
T |
C |
4: 62,226,315 (GRCm39) |
K745E |
possibly damaging |
Het |
| Flg |
T |
A |
3: 93,188,688 (GRCm39) |
|
probably benign |
Het |
| Gm11559 |
T |
C |
11: 99,755,542 (GRCm39) |
C64R |
unknown |
Het |
| Helt |
T |
C |
8: 46,745,571 (GRCm39) |
D104G |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,876,862 (GRCm39) |
T1211A |
probably benign |
Het |
| Ifna9 |
T |
C |
4: 88,510,487 (GRCm39) |
R46G |
possibly damaging |
Het |
| Kif20b |
G |
A |
19: 34,911,841 (GRCm39) |
V235I |
probably benign |
Het |
| Kif7 |
A |
G |
7: 79,363,842 (GRCm39) |
V22A |
possibly damaging |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Lipf |
A |
T |
19: 33,950,944 (GRCm39) |
Y305F |
probably benign |
Het |
| Lpar1 |
A |
G |
4: 58,486,875 (GRCm39) |
L132P |
possibly damaging |
Het |
| Magi1 |
A |
T |
6: 93,676,770 (GRCm39) |
V834E |
probably damaging |
Het |
| Meltf |
T |
C |
16: 31,709,594 (GRCm39) |
Y432H |
probably benign |
Het |
| Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,795,621 (GRCm39) |
L59P |
probably damaging |
Het |
| Naa25 |
G |
A |
5: 121,556,024 (GRCm39) |
D271N |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,139,951 (GRCm39) |
I273F |
probably damaging |
Het |
| Or8u3-ps |
A |
T |
2: 85,952,752 (GRCm39) |
I162F |
possibly damaging |
Het |
| Otoa |
A |
G |
7: 120,701,828 (GRCm39) |
Q169R |
probably damaging |
Het |
| Pde4dip |
C |
T |
3: 97,617,660 (GRCm39) |
D1723N |
probably damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,732,124 (GRCm39) |
V175A |
probably damaging |
Het |
| Rdh8 |
G |
T |
9: 20,734,696 (GRCm39) |
R121L |
probably damaging |
Het |
| Rpl23 |
T |
C |
11: 97,669,111 (GRCm39) |
|
probably null |
Het |
| Scn5a |
T |
C |
9: 119,363,646 (GRCm39) |
D498G |
probably damaging |
Het |
| Slc39a14 |
G |
C |
14: 70,544,177 (GRCm39) |
L470V |
probably damaging |
Het |
| Smok2a |
C |
T |
17: 13,445,317 (GRCm39) |
A298V |
probably damaging |
Het |
| Tesk2 |
A |
C |
4: 116,660,046 (GRCm39) |
D388A |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,666,119 (GRCm39) |
|
probably null |
Het |
| Ube3a |
T |
A |
7: 58,925,931 (GRCm39) |
Y236* |
probably null |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,881,465 (GRCm39) |
T154A |
possibly damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,131 (GRCm39) |
I144L |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,616,363 (GRCm39) |
|
probably null |
Het |
| Wdr97 |
A |
G |
15: 76,246,977 (GRCm39) |
T1413A |
probably benign |
Het |
| Zfp703 |
C |
G |
8: 27,469,355 (GRCm39) |
P340A |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,888,842 (GRCm39) |
S789G |
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 |
|
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'- TGCCAACCATGCTTGAAGTTTC -3'
(R):5'- ACCCTTGATGACTCAGTGTTCC -3'
Sequencing Primer
(F):5'- CACATGTGGATAGAGATTGTCATAG -3'
(R):5'- TGATGACTCAGTGTTCCAAAATATTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation