Incidental Mutation 'R6983:Vmn2r1'
| ID |
542766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r1
|
| Ensembl Gene |
ENSMUSG00000027824 |
| Gene Name |
vomeronasal 2, receptor 1 |
| Synonyms |
V2r83, EG56544 |
| MMRRC Submission |
045090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R6983 (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 C
at 63989118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 19
(V19A)
|
| 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: V19A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029406
Gene: ENSMUSG00000027824
AA Change: V19A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
98% (65/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,953,686 (GRCm39) |
V530A |
probably benign |
Het |
| Adgrg6 |
T |
C |
10: 14,307,439 (GRCm39) |
N816D |
probably damaging |
Het |
| Aebp2 |
T |
C |
6: 140,583,389 (GRCm39) |
F288L |
possibly damaging |
Het |
| Afdn |
T |
C |
17: 14,101,583 (GRCm39) |
S1024P |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 52,934,436 (GRCm39) |
K643Q |
probably damaging |
Het |
| Atg2a |
A |
T |
19: 6,310,070 (GRCm39) |
D1751V |
probably damaging |
Het |
| Best2 |
T |
A |
8: 85,736,405 (GRCm39) |
I253F |
probably benign |
Het |
| Bmp1 |
G |
T |
14: 70,745,647 (GRCm39) |
P55T |
probably damaging |
Het |
| C1s1 |
C |
A |
6: 124,517,855 (GRCm39) |
V42F |
possibly damaging |
Het |
| Ccdc115 |
A |
G |
1: 34,478,122 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
C |
T |
19: 6,371,698 (GRCm39) |
P1326S |
probably damaging |
Het |
| Cdhr3 |
G |
A |
12: 33,092,379 (GRCm39) |
T744I |
probably benign |
Het |
| Cit |
T |
G |
5: 116,132,150 (GRCm39) |
L1745R |
probably damaging |
Het |
| Commd6 |
A |
T |
14: 101,874,488 (GRCm39) |
S39T |
probably damaging |
Het |
| Crot |
T |
G |
5: 9,028,280 (GRCm39) |
Y223S |
probably benign |
Het |
| Crybg1 |
G |
T |
10: 43,875,338 (GRCm39) |
A590D |
probably damaging |
Het |
| Cwf19l2 |
G |
A |
9: 3,477,817 (GRCm39) |
E841K |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,717,730 (GRCm39) |
Y576H |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,022,822 (GRCm39) |
V749E |
probably damaging |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,021,698 (GRCm39) |
D1391V |
probably damaging |
Het |
| Foxf2 |
T |
A |
13: 31,811,180 (GRCm39) |
M373K |
probably benign |
Het |
| Fstl1 |
A |
T |
16: 37,651,980 (GRCm39) |
E287D |
probably benign |
Het |
| Gltpd2 |
T |
C |
11: 70,411,110 (GRCm39) |
Y134H |
probably damaging |
Het |
| Hemgn |
T |
A |
4: 46,395,997 (GRCm39) |
H413L |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,756,201 (GRCm39) |
R747H |
possibly damaging |
Het |
| Hykk |
T |
C |
9: 54,853,793 (GRCm39) |
S372P |
probably benign |
Het |
| Inava |
A |
G |
1: 136,147,894 (GRCm39) |
S353P |
possibly damaging |
Het |
| Ints10 |
T |
C |
8: 69,246,703 (GRCm39) |
V11A |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,614,635 (GRCm39) |
V306A |
probably benign |
Het |
| Lamtor2 |
G |
A |
3: 88,460,146 (GRCm39) |
Q9* |
probably null |
Het |
| Lonp2 |
T |
A |
8: 87,350,876 (GRCm39) |
V22E |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,179,739 (GRCm39) |
E383G |
probably damaging |
Het |
| Man2b1 |
T |
A |
8: 85,817,700 (GRCm39) |
|
probably null |
Het |
| Mtch1 |
T |
C |
17: 29,557,750 (GRCm39) |
I243V |
probably damaging |
Het |
| Myo18a |
T |
A |
11: 77,736,341 (GRCm39) |
M1546K |
probably benign |
Het |
| Ntf3 |
T |
C |
6: 126,078,808 (GRCm39) |
T233A |
probably damaging |
Het |
| Omg |
T |
C |
11: 79,392,764 (GRCm39) |
S365G |
probably benign |
Het |
| Or52ad1 |
C |
T |
7: 102,996,022 (GRCm39) |
V38I |
probably benign |
Het |
| Otol1 |
T |
A |
3: 69,935,374 (GRCm39) |
N455K |
probably damaging |
Het |
| Pakap |
T |
A |
4: 57,709,973 (GRCm39) |
V306D |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,625,552 (GRCm39) |
Y1349N |
probably damaging |
Het |
| Pitpnm2 |
A |
G |
5: 124,271,469 (GRCm39) |
L368P |
probably damaging |
Het |
| Pnpla8 |
T |
A |
12: 44,330,030 (GRCm39) |
I194K |
possibly damaging |
Het |
| Podn |
T |
C |
4: 107,881,470 (GRCm39) |
|
probably null |
Het |
| Potefam1 |
A |
G |
2: 111,058,595 (GRCm39) |
|
probably null |
Het |
| Pramel6 |
A |
T |
2: 87,339,923 (GRCm39) |
E229V |
possibly damaging |
Het |
| Ptpro |
C |
T |
6: 137,426,915 (GRCm39) |
P262L |
probably damaging |
Het |
| Rnf122 |
A |
T |
8: 31,608,488 (GRCm39) |
T19S |
probably benign |
Het |
| Shank2 |
T |
A |
7: 143,635,585 (GRCm39) |
Y320N |
possibly damaging |
Het |
| Slc2a9 |
A |
C |
5: 38,549,064 (GRCm39) |
I243S |
probably damaging |
Het |
| Slc5a6 |
A |
T |
5: 31,197,749 (GRCm39) |
M130K |
probably benign |
Het |
| Stx5a |
A |
G |
19: 8,732,533 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
G |
T |
2: 61,642,079 (GRCm39) |
G185V |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,565,207 (GRCm39) |
D1183G |
probably benign |
Het |
| Thbs1 |
A |
T |
2: 117,950,433 (GRCm39) |
I689F |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trub2 |
A |
T |
2: 29,677,796 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,597,306 (GRCm39) |
V19869A |
probably damaging |
Het |
| Tufm |
T |
C |
7: 126,088,607 (GRCm39) |
V303A |
possibly damaging |
Het |
| Vezf1 |
T |
C |
11: 87,964,145 (GRCm39) |
I99T |
possibly damaging |
Het |
| Xpc |
C |
T |
6: 91,481,005 (GRCm39) |
R289K |
probably damaging |
Het |
| Zfp811 |
T |
A |
17: 33,016,406 (GRCm39) |
K545* |
probably null |
Het |
| Zmiz2 |
G |
A |
11: 6,352,413 (GRCm39) |
D623N |
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 |
|
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 |
|
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'- ATTTCAAGGCCCCTGATTGAGAC -3'
(R):5'- GATGGCTTACCCTTCACACATG -3'
Sequencing Primer
(F):5'- AATTATGTAGCAAGTAGTGACAAGCC -3'
(R):5'- ACATGGGTGATACCGGCTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation