Incidental Mutation 'R6381:Vmn2r57'
| ID |
515316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r57
|
| Ensembl Gene |
ENSMUSG00000066537 |
| Gene Name |
vomeronasal 2, receptor 57 |
| Synonyms |
EG269902 |
| MMRRC Submission |
044530-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R6381 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
41399732-41448641 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41428818 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 72
(N72S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125817
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094532]
[ENSMUST00000165029]
|
| AlphaFold |
L7N269 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094532
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165029
AA Change: N72S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: N72S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
471 |
1.4e-44 |
PFAM |
|
Pfam:NCD3G
|
514 |
567 |
2.7e-23 |
PFAM |
|
Pfam:7tm_3
|
600 |
835 |
1.8e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
97% (56/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
T |
A |
18: 70,467,717 (GRCm38) |
M365L |
probably damaging |
Het |
| Aars2 |
A |
G |
17: 45,518,545 (GRCm38) |
E786G |
probably benign |
Het |
| Adamts12 |
G |
T |
15: 11,256,994 (GRCm38) |
V478F |
possibly damaging |
Het |
| Akr1c21 |
T |
A |
13: 4,574,184 (GRCm38) |
D12E |
probably damaging |
Het |
| Aplf |
A |
T |
6: 87,658,977 (GRCm38) |
M118K |
probably damaging |
Het |
| Apobec1 |
A |
G |
6: 122,578,931 (GRCm38) |
L189P |
probably damaging |
Het |
| BC061237 |
A |
G |
14: 44,504,256 (GRCm38) |
Q152R |
possibly damaging |
Het |
| Bche |
A |
G |
3: 73,701,799 (GRCm38) |
I98T |
probably benign |
Het |
| Cc2d2a |
G |
T |
5: 43,715,776 (GRCm38) |
R983L |
possibly damaging |
Het |
| Ccnd3 |
T |
C |
17: 47,505,224 (GRCm38) |
|
probably benign |
Het |
| Cd74 |
G |
T |
18: 60,811,363 (GRCm38) |
C215F |
probably damaging |
Het |
| Cep97 |
C |
T |
16: 55,922,171 (GRCm38) |
A138T |
probably damaging |
Het |
| Ces1e |
T |
A |
8: 93,217,578 (GRCm38) |
N204I |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,696,462 (GRCm38) |
D1620G |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,129,185 (GRCm38) |
V12A |
probably benign |
Het |
| Dstyk |
T |
A |
1: 132,456,765 (GRCm38) |
|
probably null |
Het |
| Elapor1 |
T |
C |
3: 108,481,814 (GRCm38) |
K222E |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 19,201,163 (GRCm38) |
V432I |
probably damaging |
Het |
| Entr1 |
A |
G |
2: 26,385,081 (GRCm38) |
|
probably null |
Het |
| Gm10570 |
G |
T |
4: 130,308,228 (GRCm38) |
|
probably benign |
Het |
| Gm7145 |
C |
T |
1: 117,985,939 (GRCm38) |
Q184* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,431,918 (GRCm38) |
G294R |
possibly damaging |
Het |
| Gtse1 |
G |
A |
15: 85,862,148 (GRCm38) |
R55H |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,984,525 (GRCm38) |
Q381K |
possibly damaging |
Het |
| Ifit3b |
T |
C |
19: 34,612,471 (GRCm38) |
I349T |
probably benign |
Het |
| Inpp5a |
A |
T |
7: 139,400,673 (GRCm38) |
D9V |
probably benign |
Het |
| Irs1 |
T |
C |
1: 82,287,684 (GRCm38) |
N937S |
possibly damaging |
Het |
| Kcna4 |
T |
C |
2: 107,294,972 (GRCm38) |
M17T |
probably benign |
Het |
| Lipa |
T |
A |
19: 34,524,746 (GRCm38) |
M33L |
probably benign |
Het |
| Marchf6 |
G |
T |
15: 31,467,692 (GRCm38) |
Q790K |
probably benign |
Het |
| Mccc1 |
G |
A |
3: 35,976,727 (GRCm38) |
P397S |
probably benign |
Het |
| Mrgprb2 |
T |
C |
7: 48,552,390 (GRCm38) |
I196V |
probably benign |
Het |
| Myh15 |
T |
A |
16: 49,101,481 (GRCm38) |
S463R |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,664,351 (GRCm38) |
K291E |
probably damaging |
Het |
| Neto2 |
T |
C |
8: 85,642,509 (GRCm38) |
T294A |
probably damaging |
Het |
| Nkx1-1 |
T |
C |
5: 33,433,976 (GRCm38) |
M1V |
probably null |
Het |
| Or2h2 |
C |
T |
17: 37,086,085 (GRCm38) |
V27I |
probably benign |
Het |
| Pla2g4c |
C |
T |
7: 13,344,008 (GRCm38) |
T357I |
probably benign |
Het |
| Psmd2 |
A |
G |
16: 20,655,273 (GRCm38) |
E242G |
probably benign |
Het |
| Rnase12 |
A |
C |
14: 51,057,094 (GRCm38) |
Y43D |
probably damaging |
Het |
| Rpl18 |
T |
A |
7: 45,719,592 (GRCm38) |
F58I |
probably damaging |
Het |
| Ryr1 |
T |
G |
7: 29,075,257 (GRCm38) |
M2313L |
possibly damaging |
Het |
| Scn4a |
G |
T |
11: 106,320,311 (GRCm38) |
Q1627K |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,767,499 (GRCm38) |
S640G |
probably benign |
Het |
| Sdr9c7 |
T |
A |
10: 127,903,673 (GRCm38) |
M219K |
probably benign |
Het |
| Soat1 |
A |
T |
1: 156,435,803 (GRCm38) |
M392K |
probably damaging |
Het |
| Spata18 |
G |
T |
5: 73,675,216 (GRCm38) |
K337N |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,179,546 (GRCm38) |
V325A |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,746,850 (GRCm38) |
E342G |
probably damaging |
Het |
| Tars2 |
A |
T |
3: 95,754,487 (GRCm38) |
L37* |
probably null |
Het |
| Tep1 |
T |
C |
14: 50,845,431 (GRCm38) |
D1040G |
probably damaging |
Het |
| Tmc8 |
A |
T |
11: 117,791,600 (GRCm38) |
S613C |
probably null |
Het |
| Top3a |
C |
T |
11: 60,744,023 (GRCm38) |
C660Y |
probably damaging |
Het |
| Tpsg1 |
C |
T |
17: 25,372,569 (GRCm38) |
R48C |
probably damaging |
Het |
| Whrn |
G |
A |
4: 63,472,684 (GRCm38) |
T269I |
probably benign |
Het |
| Zfp759 |
T |
A |
13: 67,138,905 (GRCm38) |
Y173* |
probably null |
Het |
|
| Other mutations in Vmn2r57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Vmn2r57
|
APN |
7 |
41,428,785 (GRCm38) |
missense |
probably benign |
|
|
IGL01108:Vmn2r57
|
APN |
7 |
41,427,584 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01112:Vmn2r57
|
APN |
7 |
41,425,043 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01516:Vmn2r57
|
APN |
7 |
41,399,946 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01880:Vmn2r57
|
APN |
7 |
41,400,195 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
IGL02117:Vmn2r57
|
APN |
7 |
41,400,450 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02500:Vmn2r57
|
APN |
7 |
41,428,226 (GRCm38) |
missense |
probably benign |
|
|
IGL02801:Vmn2r57
|
APN |
7 |
41,448,632 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL02993:Vmn2r57
|
APN |
7 |
41,428,074 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02996:Vmn2r57
|
APN |
7 |
41,399,741 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0008:Vmn2r57
|
UTSW |
7 |
41,400,652 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0032:Vmn2r57
|
UTSW |
7 |
41,399,733 (GRCm38) |
splice site |
probably null |
|
|
R0305:Vmn2r57
|
UTSW |
7 |
41,427,543 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0469:Vmn2r57
|
UTSW |
7 |
41,427,792 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0510:Vmn2r57
|
UTSW |
7 |
41,427,792 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0847:Vmn2r57
|
UTSW |
7 |
41,428,801 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1025:Vmn2r57
|
UTSW |
7 |
41,427,804 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1081:Vmn2r57
|
UTSW |
7 |
41,428,211 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R1479:Vmn2r57
|
UTSW |
7 |
41,427,830 (GRCm38) |
missense |
possibly damaging |
0.45 |
|
R1579:Vmn2r57
|
UTSW |
7 |
41,400,124 (GRCm38) |
missense |
probably benign |
0.38 |
|
R1764:Vmn2r57
|
UTSW |
7 |
41,400,643 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1848:Vmn2r57
|
UTSW |
7 |
41,428,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2006:Vmn2r57
|
UTSW |
7 |
41,448,577 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2197:Vmn2r57
|
UTSW |
7 |
41,428,825 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2242:Vmn2r57
|
UTSW |
7 |
41,428,074 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2394:Vmn2r57
|
UTSW |
7 |
41,400,195 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R3937:Vmn2r57
|
UTSW |
7 |
41,428,130 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4193:Vmn2r57
|
UTSW |
7 |
41,428,239 (GRCm38) |
missense |
probably benign |
|
|
R4423:Vmn2r57
|
UTSW |
7 |
41,426,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4865:Vmn2r57
|
UTSW |
7 |
41,400,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4947:Vmn2r57
|
UTSW |
7 |
41,400,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5042:Vmn2r57
|
UTSW |
7 |
41,428,662 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5084:Vmn2r57
|
UTSW |
7 |
41,426,550 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5177:Vmn2r57
|
UTSW |
7 |
41,400,240 (GRCm38) |
missense |
probably benign |
0.31 |
|
R5192:Vmn2r57
|
UTSW |
7 |
41,427,939 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5289:Vmn2r57
|
UTSW |
7 |
41,399,974 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5745:Vmn2r57
|
UTSW |
7 |
41,448,471 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R6051:Vmn2r57
|
UTSW |
7 |
41,448,472 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6155:Vmn2r57
|
UTSW |
7 |
41,428,690 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6248:Vmn2r57
|
UTSW |
7 |
41,399,860 (GRCm38) |
missense |
probably benign |
|
|
R7019:Vmn2r57
|
UTSW |
7 |
41,428,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7126:Vmn2r57
|
UTSW |
7 |
41,399,794 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7146:Vmn2r57
|
UTSW |
7 |
41,448,471 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7215:Vmn2r57
|
UTSW |
7 |
41,400,286 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7432:Vmn2r57
|
UTSW |
7 |
41,426,724 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7633:Vmn2r57
|
UTSW |
7 |
41,425,089 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R7811:Vmn2r57
|
UTSW |
7 |
41,425,015 (GRCm38) |
nonsense |
probably null |
|
|
R8025:Vmn2r57
|
UTSW |
7 |
41,426,759 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8332:Vmn2r57
|
UTSW |
7 |
41,400,253 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8345:Vmn2r57
|
UTSW |
7 |
41,427,544 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R8360:Vmn2r57
|
UTSW |
7 |
41,400,216 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8738:Vmn2r57
|
UTSW |
7 |
41,427,596 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8758:Vmn2r57
|
UTSW |
7 |
41,428,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8955:Vmn2r57
|
UTSW |
7 |
41,400,147 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R8985:Vmn2r57
|
UTSW |
7 |
41,399,835 (GRCm38) |
missense |
probably benign |
|
|
R9108:Vmn2r57
|
UTSW |
7 |
41,428,768 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9160:Vmn2r57
|
UTSW |
7 |
41,426,735 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R9354:Vmn2r57
|
UTSW |
7 |
41,400,239 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9566:Vmn2r57
|
UTSW |
7 |
41,427,665 (GRCm38) |
missense |
probably benign |
0.32 |
|
R9633:Vmn2r57
|
UTSW |
7 |
41,426,582 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,428,561 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,428,125 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0065:Vmn2r57
|
UTSW |
7 |
41,427,971 (GRCm38) |
missense |
probably benign |
0.09 |
|
Z1176:Vmn2r57
|
UTSW |
7 |
41,400,498 (GRCm38) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGGTAAATTTCTCTTCTGGCC -3'
(R):5'- TTCTCCACTCAATATACTAAGAGTCCC -3'
Sequencing Primer
(F):5'- CTCTTCTGGCCACAGTTATAATTAAC -3'
(R):5'- GTCCCAGAGACCATGATTAATAAATG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation