Incidental Mutation 'R9140:Vmn2r1'
| ID |
694262 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r1
|
| Ensembl Gene |
ENSMUSG00000027824 |
| Gene Name |
vomeronasal 2, receptor 1 |
| Synonyms |
V2r83, EG56544 |
| MMRRC Submission |
068972-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
R9140 (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 T
at 63997465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 374
(N374Y)
|
| 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: N374Y
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000029406
Gene: ENSMUSG00000027824
AA Change: N374Y
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
T |
17: 33,652,170 (GRCm39) |
I77F |
possibly damaging |
Het |
| Adgb |
G |
A |
10: 10,216,263 (GRCm39) |
R1509* |
probably null |
Het |
| Ago1 |
C |
A |
4: 126,336,977 (GRCm39) |
V547L |
probably benign |
Het |
| Arhgap21 |
T |
A |
2: 20,886,025 (GRCm39) |
Y394F |
probably damaging |
Het |
| C1qa |
A |
C |
4: 136,623,553 (GRCm39) |
I217S |
probably damaging |
Het |
| Cacna1b |
T |
A |
2: 24,525,224 (GRCm39) |
I1651F |
probably damaging |
Het |
| Car8 |
T |
C |
4: 8,183,270 (GRCm39) |
T242A |
probably benign |
Het |
| Ccdc121rt3 |
A |
T |
5: 112,502,723 (GRCm39) |
L327Q |
probably damaging |
Het |
| Ccn4 |
G |
A |
15: 66,791,157 (GRCm39) |
V320M |
probably damaging |
Het |
| Chrnb4 |
G |
A |
9: 54,941,955 (GRCm39) |
H440Y |
|
Het |
| Cic |
T |
C |
7: 24,985,165 (GRCm39) |
V1137A |
probably damaging |
Het |
| Ctdp1 |
C |
T |
18: 80,484,043 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
G |
C |
5: 145,406,434 (GRCm39) |
A6G |
unknown |
Het |
| Ddhd1 |
A |
C |
14: 45,894,918 (GRCm39) |
L184R |
probably benign |
Het |
| Dnttip1 |
A |
G |
2: 164,596,082 (GRCm39) |
D109G |
possibly damaging |
Het |
| Dsc3 |
T |
A |
18: 20,122,616 (GRCm39) |
M103L |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
T |
C |
5: 9,449,226 (GRCm39) |
V118A |
probably benign |
Het |
| Eya2 |
T |
C |
2: 165,608,977 (GRCm39) |
L439S |
probably damaging |
Het |
| Eya3 |
A |
G |
4: 132,428,411 (GRCm39) |
N311S |
possibly damaging |
Het |
| Fam151a |
C |
T |
4: 106,605,344 (GRCm39) |
R569* |
probably null |
Het |
| Fer1l5 |
A |
G |
1: 36,460,047 (GRCm39) |
|
probably benign |
Het |
| Fnbp4 |
A |
G |
2: 90,576,077 (GRCm39) |
T93A |
unknown |
Het |
| Fosl2 |
T |
C |
5: 32,310,042 (GRCm39) |
S164P |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,173,673 (GRCm39) |
T630A |
probably null |
Het |
| Gm5916 |
G |
T |
9: 36,031,982 (GRCm39) |
Q101K |
unknown |
Het |
| Gm7138 |
A |
T |
10: 77,612,682 (GRCm39) |
|
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,307,934 (GRCm39) |
K474R |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,617,114 (GRCm39) |
F153L |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Kirrel3 |
C |
T |
9: 34,924,596 (GRCm39) |
A268V |
probably benign |
Het |
| Kprp |
G |
T |
3: 92,732,458 (GRCm39) |
Y197* |
probably null |
Het |
| Kri1 |
C |
T |
9: 21,187,434 (GRCm39) |
R471H |
|
Het |
| Krt17 |
C |
A |
11: 100,148,476 (GRCm39) |
A322S |
possibly damaging |
Het |
| Leng9 |
A |
T |
7: 4,152,657 (GRCm39) |
D6E |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,367,855 (GRCm39) |
I2302K |
possibly damaging |
Het |
| Manba |
G |
A |
3: 135,191,490 (GRCm39) |
V17M |
probably benign |
Het |
| Mical2 |
A |
G |
7: 112,006,826 (GRCm39) |
K582E |
probably damaging |
Het |
| Mknk2 |
A |
G |
10: 80,507,427 (GRCm39) |
V102A |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,100,089 (GRCm39) |
G636D |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,653,322 (GRCm39) |
N280S |
probably damaging |
Het |
| P2rx7 |
G |
A |
5: 122,790,789 (GRCm39) |
|
probably null |
Het |
| Pcmt1 |
A |
G |
10: 7,514,678 (GRCm39) |
*177R |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,271,455 (GRCm39) |
K959R |
probably benign |
Het |
| Plat |
A |
G |
8: 23,270,562 (GRCm39) |
D493G |
probably damaging |
Het |
| Prr30 |
A |
G |
14: 101,436,430 (GRCm39) |
L44P |
probably benign |
Het |
| Ptx4 |
T |
C |
17: 25,344,180 (GRCm39) |
C477R |
probably damaging |
Het |
| Pus10 |
A |
G |
11: 23,622,625 (GRCm39) |
S82G |
probably benign |
Het |
| Pygo1 |
A |
G |
9: 72,852,988 (GRCm39) |
T392A |
probably benign |
Het |
| Rad54b |
C |
A |
4: 11,610,386 (GRCm39) |
L668I |
probably damaging |
Het |
| Rdh19 |
A |
C |
10: 127,692,830 (GRCm39) |
M166L |
|
Het |
| Retnlg |
C |
A |
16: 48,693,288 (GRCm39) |
Q22K |
possibly damaging |
Het |
| Rfc3 |
G |
T |
5: 151,568,141 (GRCm39) |
T249K |
probably benign |
Het |
| Rgs16 |
T |
A |
1: 153,619,381 (GRCm39) |
V129E |
probably damaging |
Het |
| Rptn |
T |
A |
3: 93,303,445 (GRCm39) |
Y259* |
probably null |
Het |
| Sema6a |
T |
C |
18: 47,415,009 (GRCm39) |
N427S |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,819,487 (GRCm39) |
I229T |
possibly damaging |
Het |
| Slitrk3 |
A |
T |
3: 72,957,792 (GRCm39) |
Y327N |
probably benign |
Het |
| Smtnl2 |
A |
G |
11: 72,290,793 (GRCm39) |
L384P |
probably damaging |
Het |
| Stil |
G |
T |
4: 114,864,449 (GRCm39) |
V117F |
probably damaging |
Het |
| Tada1 |
T |
C |
1: 166,216,177 (GRCm39) |
V126A |
probably benign |
Het |
| Tasor2 |
G |
A |
13: 3,638,441 (GRCm39) |
T430I |
probably benign |
Het |
| Tmem30c |
T |
C |
16: 57,090,482 (GRCm39) |
I242V |
probably damaging |
Het |
| Tnnt2 |
T |
A |
1: 135,768,635 (GRCm39) |
V8E |
|
Het |
| Ttn |
A |
G |
2: 76,774,240 (GRCm39) |
V2268A |
unknown |
Het |
| Uspl1 |
G |
T |
5: 149,150,290 (GRCm39) |
A497S |
possibly damaging |
Het |
| Vmn2r27 |
A |
G |
6: 124,169,207 (GRCm39) |
F641S |
probably damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,892,643 (GRCm39) |
Y832F |
probably damaging |
Het |
| Zfp748 |
C |
T |
13: 67,689,073 (GRCm39) |
C729Y |
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 |
|
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 |
|
|
|
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'- GCTCTCATTGCAAAGCCTGAG -3'
(R):5'- GCCCTTCTTGACATCTGCTGAG -3'
Sequencing Primer
(F):5'- ATTGCAAAGCCTGAGTATTTCCC -3'
(R):5'- TGATCCAGGCCATGAGCTATAGC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation