Incidental Mutation 'R8332:Vmn2r57'
| ID |
644426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r57
|
| Ensembl Gene |
ENSMUSG00000066537 |
| Gene Name |
vomeronasal 2, receptor 57 |
| Synonyms |
EG269902 |
| MMRRC Submission |
067728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R8332 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
41049156-41098065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41049677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 691
(V691M)
|
| 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: V691M
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000125817
Gene: ENSMUSG00000066537
AA Change: V691M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,815,436 (GRCm39) |
D228G |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,791,282 (GRCm39) |
D841G |
possibly damaging |
Het |
| Alms1 |
G |
A |
6: 85,597,561 (GRCm39) |
V796I |
probably benign |
Het |
| Angptl8 |
A |
T |
9: 21,748,137 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
A |
T |
11: 97,381,960 (GRCm39) |
S61T |
unknown |
Het |
| Bcl9 |
C |
T |
3: 97,117,086 (GRCm39) |
G536D |
possibly damaging |
Het |
| Bscl2 |
A |
G |
19: 8,823,594 (GRCm39) |
D220G |
probably benign |
Het |
| Ccl28 |
C |
A |
13: 120,107,514 (GRCm39) |
C58* |
probably null |
Het |
| Ccr8 |
A |
T |
9: 119,923,440 (GRCm39) |
Y185F |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,087 (GRCm39) |
H408Q |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,016,037 (GRCm39) |
E351G |
probably damaging |
Het |
| Cog5 |
A |
T |
12: 31,883,222 (GRCm39) |
K384* |
probably null |
Het |
| Cpne1 |
T |
C |
2: 155,920,317 (GRCm39) |
T187A |
probably benign |
Het |
| Crat |
T |
A |
2: 30,295,084 (GRCm39) |
I444F |
possibly damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,152 (GRCm39) |
M1052L |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,377 (GRCm39) |
K104E |
probably damaging |
Het |
| Erp44 |
A |
G |
4: 48,243,475 (GRCm39) |
|
probably null |
Het |
| Flad1 |
G |
T |
3: 89,314,828 (GRCm39) |
Q290K |
probably benign |
Het |
| Gata3os |
G |
A |
2: 9,887,650 (GRCm39) |
R17H |
unknown |
Het |
| Gli3 |
G |
T |
13: 15,888,133 (GRCm39) |
R516L |
possibly damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,048 (GRCm39) |
C182S |
unknown |
Het |
| Herc2 |
T |
C |
7: 55,796,343 (GRCm39) |
I1905T |
probably damaging |
Het |
| Ikbkb |
A |
T |
8: 23,155,641 (GRCm39) |
V617D |
possibly damaging |
Het |
| Intu |
A |
G |
3: 40,629,719 (GRCm39) |
I350V |
probably benign |
Het |
| Limd1 |
A |
G |
9: 123,308,319 (GRCm39) |
D6G |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,601,210 (GRCm39) |
D716G |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,407,805 (GRCm39) |
T1828I |
probably damaging |
Het |
| Or2at1 |
T |
C |
7: 99,417,334 (GRCm39) |
*322Q |
probably null |
Het |
| Or6c38 |
A |
G |
10: 128,929,174 (GRCm39) |
I223T |
possibly damaging |
Het |
| Piezo2 |
A |
T |
18: 63,145,857 (GRCm39) |
I2689N |
possibly damaging |
Het |
| Prag1 |
T |
C |
8: 36,613,457 (GRCm39) |
I1003T |
probably damaging |
Het |
| Rbm8a2 |
T |
C |
1: 175,805,967 (GRCm39) |
D170G |
unknown |
Het |
| Rnf213 |
A |
C |
11: 119,374,524 (GRCm39) |
Q5027P |
|
Het |
| Robo1 |
T |
C |
16: 72,775,466 (GRCm39) |
Y664H |
probably damaging |
Het |
| Rrn3 |
T |
A |
16: 13,616,484 (GRCm39) |
D287E |
possibly damaging |
Het |
| Slc22a16 |
G |
A |
10: 40,449,741 (GRCm39) |
R80Q |
possibly damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,327,680 (GRCm39) |
T706S |
probably benign |
Het |
| Srek1ip1 |
A |
T |
13: 104,970,757 (GRCm39) |
R69S |
possibly damaging |
Het |
| St3gal5 |
T |
A |
6: 72,119,165 (GRCm39) |
C119* |
probably null |
Het |
| T2 |
A |
G |
17: 8,609,784 (GRCm39) |
M78V |
probably null |
Het |
| Taok1 |
A |
T |
11: 77,432,545 (GRCm39) |
V756D |
possibly damaging |
Het |
| Tecta |
C |
T |
9: 42,286,310 (GRCm39) |
G782D |
probably damaging |
Het |
| Thbs2 |
G |
A |
17: 14,900,032 (GRCm39) |
P615L |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,830,721 (GRCm39) |
I217F |
possibly damaging |
Het |
| Xkr4 |
T |
C |
1: 3,492,122 (GRCm39) |
Y267C |
probably damaging |
Het |
| Zfp59 |
A |
G |
7: 27,552,971 (GRCm39) |
D141G |
probably benign |
Het |
| Zfp760 |
A |
G |
17: 21,942,301 (GRCm39) |
E492G |
probably damaging |
Het |
|
| Other mutations in Vmn2r57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Vmn2r57
|
APN |
7 |
41,078,209 (GRCm39) |
missense |
probably benign |
|
|
IGL01108:Vmn2r57
|
APN |
7 |
41,077,008 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01112:Vmn2r57
|
APN |
7 |
41,074,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01516:Vmn2r57
|
APN |
7 |
41,049,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01880:Vmn2r57
|
APN |
7 |
41,049,619 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02117:Vmn2r57
|
APN |
7 |
41,049,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02500:Vmn2r57
|
APN |
7 |
41,077,650 (GRCm39) |
missense |
probably benign |
|
|
IGL02801:Vmn2r57
|
APN |
7 |
41,098,056 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02993:Vmn2r57
|
APN |
7 |
41,077,498 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02996:Vmn2r57
|
APN |
7 |
41,049,165 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0008:Vmn2r57
|
UTSW |
7 |
41,050,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Vmn2r57
|
UTSW |
7 |
41,049,157 (GRCm39) |
splice site |
probably null |
|
|
R0305:Vmn2r57
|
UTSW |
7 |
41,076,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0469:Vmn2r57
|
UTSW |
7 |
41,077,216 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0510:Vmn2r57
|
UTSW |
7 |
41,077,216 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0847:Vmn2r57
|
UTSW |
7 |
41,078,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1025:Vmn2r57
|
UTSW |
7 |
41,077,228 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1081:Vmn2r57
|
UTSW |
7 |
41,077,635 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1479:Vmn2r57
|
UTSW |
7 |
41,077,254 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1579:Vmn2r57
|
UTSW |
7 |
41,049,548 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1764:Vmn2r57
|
UTSW |
7 |
41,050,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1848:Vmn2r57
|
UTSW |
7 |
41,077,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Vmn2r57
|
UTSW |
7 |
41,098,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2197:Vmn2r57
|
UTSW |
7 |
41,078,249 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2242:Vmn2r57
|
UTSW |
7 |
41,077,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2394:Vmn2r57
|
UTSW |
7 |
41,049,619 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3937:Vmn2r57
|
UTSW |
7 |
41,077,554 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4193:Vmn2r57
|
UTSW |
7 |
41,077,663 (GRCm39) |
missense |
probably benign |
|
|
R4423:Vmn2r57
|
UTSW |
7 |
41,076,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Vmn2r57
|
UTSW |
7 |
41,049,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Vmn2r57
|
UTSW |
7 |
41,049,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Vmn2r57
|
UTSW |
7 |
41,078,086 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5084:Vmn2r57
|
UTSW |
7 |
41,075,974 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5177:Vmn2r57
|
UTSW |
7 |
41,049,664 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5192:Vmn2r57
|
UTSW |
7 |
41,077,363 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5289:Vmn2r57
|
UTSW |
7 |
41,049,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5745:Vmn2r57
|
UTSW |
7 |
41,097,895 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6051:Vmn2r57
|
UTSW |
7 |
41,097,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6155:Vmn2r57
|
UTSW |
7 |
41,078,114 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6248:Vmn2r57
|
UTSW |
7 |
41,049,284 (GRCm39) |
missense |
probably benign |
|
|
R6381:Vmn2r57
|
UTSW |
7 |
41,078,242 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7019:Vmn2r57
|
UTSW |
7 |
41,078,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7126:Vmn2r57
|
UTSW |
7 |
41,049,218 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7146:Vmn2r57
|
UTSW |
7 |
41,097,895 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7215:Vmn2r57
|
UTSW |
7 |
41,049,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7432:Vmn2r57
|
UTSW |
7 |
41,076,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7633:Vmn2r57
|
UTSW |
7 |
41,074,513 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7811:Vmn2r57
|
UTSW |
7 |
41,074,439 (GRCm39) |
nonsense |
probably null |
|
|
R8025:Vmn2r57
|
UTSW |
7 |
41,076,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8345:Vmn2r57
|
UTSW |
7 |
41,076,968 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8360:Vmn2r57
|
UTSW |
7 |
41,049,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Vmn2r57
|
UTSW |
7 |
41,077,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8758:Vmn2r57
|
UTSW |
7 |
41,078,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Vmn2r57
|
UTSW |
7 |
41,049,571 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8985:Vmn2r57
|
UTSW |
7 |
41,049,259 (GRCm39) |
missense |
probably benign |
|
|
R9108:Vmn2r57
|
UTSW |
7 |
41,078,192 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9160:Vmn2r57
|
UTSW |
7 |
41,076,159 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9354:Vmn2r57
|
UTSW |
7 |
41,049,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9566:Vmn2r57
|
UTSW |
7 |
41,077,089 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9633:Vmn2r57
|
UTSW |
7 |
41,076,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,077,985 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
X0026:Vmn2r57
|
UTSW |
7 |
41,077,549 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0065:Vmn2r57
|
UTSW |
7 |
41,077,395 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1176:Vmn2r57
|
UTSW |
7 |
41,049,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCAGAACCCTTGTTGCAC -3'
(R):5'- AGAGACACACCCATTGTCAAGG -3'
Sequencing Primer
(F):5'- GCAGAACCCTTGTTGCACATAATG -3'
(R):5'- AGGCCAATAATCGGGTTCTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation