Incidental Mutation 'R3937:Vmn2r57'
ID |
307227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r57
|
Ensembl Gene |
ENSMUSG00000066537 |
Gene Name |
vomeronasal 2, receptor 57 |
Synonyms |
EG269902 |
MMRRC Submission |
040921-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R3937 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
41049156-41098065 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41077554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 204
(M204T)
|
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 damaging
Transcript: ENSMUST00000165029
AA Change: M204T
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125817 Gene: ENSMUSG00000066537 AA Change: M204T
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
T |
G |
4: 148,026,510 (GRCm39) |
S343R |
possibly damaging |
Het |
Abca8b |
G |
T |
11: 109,865,393 (GRCm39) |
P355T |
probably benign |
Het |
Abhd15 |
T |
C |
11: 77,406,764 (GRCm39) |
V247A |
probably benign |
Het |
Adamts1 |
C |
T |
16: 85,592,507 (GRCm39) |
V634M |
possibly damaging |
Het |
BC049715 |
T |
C |
6: 136,817,453 (GRCm39) |
I231T |
possibly damaging |
Het |
Chpf |
A |
T |
1: 75,454,184 (GRCm39) |
V198E |
probably damaging |
Het |
Cp |
C |
T |
3: 20,025,198 (GRCm39) |
P386S |
probably damaging |
Het |
Cth |
A |
G |
3: 157,625,677 (GRCm39) |
I107T |
possibly damaging |
Het |
Ctrc |
T |
C |
4: 141,567,632 (GRCm39) |
D157G |
probably damaging |
Het |
D630003M21Rik |
A |
G |
2: 158,042,280 (GRCm39) |
Y889H |
probably damaging |
Het |
Elavl3 |
A |
G |
9: 21,930,040 (GRCm39) |
V288A |
probably damaging |
Het |
Esyt3 |
A |
T |
9: 99,218,245 (GRCm39) |
I130K |
probably benign |
Het |
F13a1 |
A |
T |
13: 37,100,875 (GRCm39) |
V423D |
probably damaging |
Het |
Faf1 |
T |
C |
4: 109,614,889 (GRCm39) |
|
probably benign |
Het |
Fam227b |
A |
T |
2: 125,968,980 (GRCm39) |
D31E |
probably benign |
Het |
Fastkd2 |
A |
G |
1: 63,776,995 (GRCm39) |
D377G |
possibly damaging |
Het |
Fbxl6 |
G |
A |
15: 76,420,824 (GRCm39) |
R384* |
probably null |
Het |
Fcamr |
A |
T |
1: 130,732,313 (GRCm39) |
H44L |
probably damaging |
Het |
Fhod3 |
A |
G |
18: 25,223,818 (GRCm39) |
N1055D |
probably benign |
Het |
Garem1 |
A |
T |
18: 21,281,863 (GRCm39) |
Y164* |
probably null |
Het |
Gemin4 |
C |
T |
11: 76,103,714 (GRCm39) |
C349Y |
probably damaging |
Het |
Gnal |
A |
G |
18: 67,268,441 (GRCm39) |
|
probably null |
Het |
Hacl1 |
T |
C |
14: 31,356,148 (GRCm39) |
|
probably benign |
Het |
Hectd3 |
T |
C |
4: 116,855,727 (GRCm39) |
V409A |
probably benign |
Het |
Hps6 |
A |
G |
19: 45,992,492 (GRCm39) |
E143G |
probably damaging |
Het |
Hspa4 |
T |
A |
11: 53,161,776 (GRCm39) |
I459L |
probably benign |
Het |
Ighv3-6 |
G |
A |
12: 114,252,061 (GRCm39) |
Q21* |
probably null |
Het |
Ints3 |
G |
A |
3: 90,311,294 (GRCm39) |
R438* |
probably null |
Het |
Jmjd6 |
T |
C |
11: 116,731,991 (GRCm39) |
N237D |
probably benign |
Het |
Lrrk2 |
C |
A |
15: 91,662,707 (GRCm39) |
T1912K |
probably damaging |
Het |
Mdga2 |
C |
A |
12: 67,267,980 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Myh6 |
T |
C |
14: 55,200,512 (GRCm39) |
D203G |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,849,108 (GRCm39) |
S1116P |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,607,357 (GRCm39) |
D704V |
probably benign |
Het |
Nes |
A |
T |
3: 87,878,543 (GRCm39) |
M12L |
probably benign |
Het |
Or10ak7 |
T |
C |
4: 118,791,880 (GRCm39) |
D53G |
probably damaging |
Het |
Or10al2 |
A |
G |
17: 37,983,858 (GRCm39) |
T315A |
probably benign |
Het |
Or2f1 |
T |
A |
6: 42,721,010 (GRCm39) |
I13N |
probably damaging |
Het |
Or5j3 |
T |
A |
2: 86,128,360 (GRCm39) |
S67T |
probably damaging |
Het |
Pcdha2 |
T |
C |
18: 37,074,376 (GRCm39) |
V669A |
probably benign |
Het |
Pdhx |
T |
C |
2: 102,852,564 (GRCm39) |
N433S |
probably damaging |
Het |
Pip5kl1 |
A |
G |
2: 32,469,124 (GRCm39) |
R261G |
probably damaging |
Het |
Plekhj1 |
A |
G |
10: 80,633,609 (GRCm39) |
I76T |
probably damaging |
Het |
Ppp1r3a |
A |
T |
6: 14,719,073 (GRCm39) |
S614T |
probably damaging |
Het |
Ptpru |
T |
C |
4: 131,501,615 (GRCm39) |
N1207S |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,312,294 (GRCm39) |
F1005L |
probably benign |
Het |
Rims2 |
A |
G |
15: 39,301,241 (GRCm39) |
E324G |
probably damaging |
Het |
Sema6d |
A |
T |
2: 124,498,770 (GRCm39) |
I227L |
probably benign |
Het |
Smarcad1 |
T |
G |
6: 65,091,320 (GRCm39) |
L1014V |
probably damaging |
Het |
Spag9 |
T |
G |
11: 93,935,305 (GRCm39) |
S39A |
possibly damaging |
Het |
Spag9 |
T |
C |
11: 93,935,243 (GRCm39) |
V18A |
possibly damaging |
Het |
Sun2 |
T |
C |
15: 79,618,356 (GRCm39) |
K268E |
probably benign |
Het |
Tbpl2 |
C |
T |
2: 23,977,151 (GRCm39) |
R289Q |
probably benign |
Het |
Tcea3 |
T |
A |
4: 135,982,454 (GRCm39) |
|
probably benign |
Het |
Tmem185a |
C |
T |
X: 69,505,792 (GRCm39) |
|
probably null |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Vmn1r212 |
A |
T |
13: 23,067,358 (GRCm39) |
V325E |
unknown |
Het |
Vmn1r35 |
T |
A |
6: 66,656,057 (GRCm39) |
R204S |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,092,105 (GRCm39) |
Y411* |
probably null |
Het |
Zfp335 |
G |
T |
2: 164,752,620 (GRCm39) |
D41E |
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 |
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 |
R8332:Vmn2r57
|
UTSW |
7 |
41,049,677 (GRCm39) |
missense |
probably benign |
0.01 |
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'- ACCTTGTAAAGAAACAGTGTCCC -3'
(R):5'- ATGATTGACACTGTGTTTGATGCC -3'
Sequencing Primer
(F):5'- CACATTTGCTGATGATTCCTGAATC -3'
(R):5'- GACACTGTGTTTGATGCCAATATTC -3'
|
Posted On |
2015-04-17 |