Incidental Mutation 'R6885:Vmn2r99'
ID |
536814 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r99
|
Ensembl Gene |
ENSMUSG00000090304 |
Gene Name |
vomeronasal 2, receptor 99 |
Synonyms |
EG665376 |
MMRRC Submission |
045031-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R6885 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
19582397-19614852 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 19600457 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 494
(S494T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156067
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176107]
[ENSMUST00000231989]
|
AlphaFold |
H3BK37 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000176107
AA Change: S494T
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000135236 Gene: ENSMUSG00000090304 AA Change: S494T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
81 |
448 |
5.7e-33 |
PFAM |
Pfam:NCD3G
|
508 |
561 |
1.8e-21 |
PFAM |
Pfam:7tm_3
|
593 |
829 |
4.6e-52 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231989
AA Change: S494T
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,119,332 (GRCm39) |
I1025M |
probably benign |
Het |
Adamtsl5 |
T |
A |
10: 80,179,465 (GRCm39) |
T164S |
probably benign |
Het |
Ankar |
C |
T |
1: 72,682,195 (GRCm39) |
A1239T |
unknown |
Het |
Aox4 |
A |
T |
1: 58,303,537 (GRCm39) |
S1192C |
probably damaging |
Het |
Atl2 |
T |
C |
17: 80,159,982 (GRCm39) |
D68G |
probably damaging |
Het |
Btnl4 |
T |
C |
17: 34,691,919 (GRCm39) |
I228V |
probably benign |
Het |
Catsper4 |
T |
C |
4: 133,942,460 (GRCm39) |
T231A |
probably benign |
Het |
Ccl12 |
A |
T |
11: 81,993,523 (GRCm39) |
T54S |
probably damaging |
Het |
Cntn1 |
T |
C |
15: 92,140,980 (GRCm39) |
|
probably null |
Het |
Cog5 |
T |
A |
12: 31,944,198 (GRCm39) |
D694E |
probably damaging |
Het |
Crat |
T |
A |
2: 30,305,208 (GRCm39) |
|
probably benign |
Het |
Crot |
T |
C |
5: 9,023,635 (GRCm39) |
T418A |
probably benign |
Het |
Cubn |
G |
A |
2: 13,323,089 (GRCm39) |
P2826L |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,981,598 (GRCm39) |
F1698L |
possibly damaging |
Het |
Dock8 |
T |
A |
19: 25,124,742 (GRCm39) |
D1019E |
possibly damaging |
Het |
Eps15 |
A |
G |
4: 109,166,361 (GRCm39) |
N85D |
probably damaging |
Het |
Exoc1 |
T |
C |
5: 76,706,889 (GRCm39) |
S457P |
probably damaging |
Het |
Ext1 |
G |
A |
15: 52,965,088 (GRCm39) |
T426I |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,405,489 (GRCm39) |
S747P |
possibly damaging |
Het |
Gas7 |
A |
G |
11: 67,574,213 (GRCm39) |
D396G |
probably damaging |
Het |
Gm5114 |
G |
T |
7: 39,057,580 (GRCm39) |
R680S |
probably benign |
Het |
Gpcpd1 |
A |
T |
2: 132,395,994 (GRCm39) |
L94M |
possibly damaging |
Het |
Gse1 |
C |
A |
8: 120,956,221 (GRCm39) |
|
probably benign |
Het |
Hmgb1 |
T |
C |
5: 148,987,471 (GRCm39) |
E26G |
probably benign |
Het |
Incenp |
C |
T |
19: 9,852,496 (GRCm39) |
R714Q |
unknown |
Het |
Krt73 |
T |
C |
15: 101,704,833 (GRCm39) |
E351G |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,938,121 (GRCm39) |
|
probably null |
Het |
Lpin2 |
T |
G |
17: 71,522,145 (GRCm39) |
S60A |
probably damaging |
Het |
Lrrc71 |
T |
C |
3: 87,649,927 (GRCm39) |
|
probably null |
Het |
Mafb |
A |
G |
2: 160,207,939 (GRCm39) |
S220P |
possibly damaging |
Het |
Maml3 |
TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
3: 51,605,000 (GRCm39) |
|
|
Het |
Mcmbp |
T |
C |
7: 128,326,833 (GRCm39) |
|
probably null |
Het |
Or1e30 |
A |
T |
11: 73,677,926 (GRCm39) |
H54L |
possibly damaging |
Het |
Or4s2 |
A |
G |
2: 88,473,941 (GRCm39) |
T277A |
probably damaging |
Het |
Paqr9 |
T |
C |
9: 95,442,096 (GRCm39) |
S29P |
probably benign |
Het |
Parm1 |
A |
G |
5: 91,742,069 (GRCm39) |
T146A |
possibly damaging |
Het |
Pgm2 |
T |
A |
5: 64,261,221 (GRCm39) |
F238L |
probably benign |
Het |
Pigv |
A |
T |
4: 133,392,792 (GRCm39) |
F126Y |
probably damaging |
Het |
Pitx2 |
T |
C |
3: 129,012,257 (GRCm39) |
M222T |
probably damaging |
Het |
Plekhg6 |
T |
C |
6: 125,355,693 (GRCm39) |
N37S |
probably benign |
Het |
Pramel25 |
T |
C |
4: 143,520,103 (GRCm39) |
C116R |
probably damaging |
Het |
Psme4 |
A |
T |
11: 30,784,307 (GRCm39) |
K961* |
probably null |
Het |
Rbpj |
T |
C |
5: 53,810,493 (GRCm39) |
W392R |
probably damaging |
Het |
Reg3a |
T |
A |
6: 78,358,038 (GRCm39) |
|
probably null |
Het |
Rfc3 |
C |
T |
5: 151,571,749 (GRCm39) |
S85N |
probably benign |
Het |
Rtn3 |
T |
C |
19: 7,435,696 (GRCm39) |
T80A |
probably benign |
Het |
Sash1 |
T |
C |
10: 8,659,985 (GRCm39) |
T195A |
probably damaging |
Het |
Ska1 |
A |
G |
18: 74,339,910 (GRCm39) |
V12A |
probably benign |
Het |
Slc25a1 |
A |
G |
16: 17,745,294 (GRCm39) |
V80A |
probably benign |
Het |
Slc26a5 |
A |
T |
5: 22,039,342 (GRCm39) |
V217D |
probably damaging |
Het |
Slc46a1 |
A |
G |
11: 78,357,805 (GRCm39) |
D286G |
probably benign |
Het |
Spata2l |
A |
T |
8: 123,962,297 (GRCm39) |
L88Q |
probably damaging |
Het |
Sptbn1 |
T |
G |
11: 30,088,634 (GRCm39) |
Q876P |
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,914,407 (GRCm39) |
I2377F |
possibly damaging |
Het |
Thbs4 |
A |
T |
13: 92,899,377 (GRCm39) |
D539E |
probably damaging |
Het |
Tmem154 |
T |
A |
3: 84,599,813 (GRCm39) |
C162S |
possibly damaging |
Het |
Tpcn1 |
T |
C |
5: 120,682,502 (GRCm39) |
E502G |
probably benign |
Het |
Traf7 |
G |
A |
17: 24,731,266 (GRCm39) |
R257C |
probably benign |
Het |
Tsc22d2 |
T |
C |
3: 58,323,629 (GRCm39) |
Y174H |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,594,230 (GRCm39) |
E802G |
probably damaging |
Het |
Vmn1r5 |
T |
C |
6: 56,963,042 (GRCm39) |
V239A |
possibly damaging |
Het |
Zbtb38 |
A |
G |
9: 96,568,517 (GRCm39) |
F856L |
probably damaging |
Het |
|
Other mutations in Vmn2r99 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00503:Vmn2r99
|
APN |
17 |
19,599,116 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01113:Vmn2r99
|
APN |
17 |
19,614,518 (GRCm39) |
missense |
probably benign |
0.20 |
IGL01138:Vmn2r99
|
APN |
17 |
19,602,885 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01646:Vmn2r99
|
APN |
17 |
19,613,920 (GRCm39) |
splice site |
probably benign |
|
IGL01769:Vmn2r99
|
APN |
17 |
19,600,377 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02112:Vmn2r99
|
APN |
17 |
19,600,494 (GRCm39) |
missense |
probably null |
0.99 |
IGL02891:Vmn2r99
|
APN |
17 |
19,598,952 (GRCm39) |
nonsense |
probably null |
|
IGL03132:Vmn2r99
|
APN |
17 |
19,598,485 (GRCm39) |
nonsense |
probably null |
|
FR4548:Vmn2r99
|
UTSW |
17 |
19,614,547 (GRCm39) |
missense |
probably damaging |
0.97 |
FR4976:Vmn2r99
|
UTSW |
17 |
19,614,547 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4382001:Vmn2r99
|
UTSW |
17 |
19,614,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R0196:Vmn2r99
|
UTSW |
17 |
19,614,835 (GRCm39) |
missense |
probably benign |
0.00 |
R0720:Vmn2r99
|
UTSW |
17 |
19,599,305 (GRCm39) |
missense |
probably benign |
0.00 |
R1501:Vmn2r99
|
UTSW |
17 |
19,582,521 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1519:Vmn2r99
|
UTSW |
17 |
19,600,322 (GRCm39) |
missense |
probably benign |
0.00 |
R1670:Vmn2r99
|
UTSW |
17 |
19,582,514 (GRCm39) |
missense |
probably benign |
0.37 |
R1682:Vmn2r99
|
UTSW |
17 |
19,598,207 (GRCm39) |
missense |
probably damaging |
0.97 |
R1873:Vmn2r99
|
UTSW |
17 |
19,582,415 (GRCm39) |
missense |
probably benign |
0.25 |
R1967:Vmn2r99
|
UTSW |
17 |
19,599,077 (GRCm39) |
missense |
probably benign |
0.01 |
R2101:Vmn2r99
|
UTSW |
17 |
19,598,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R2474:Vmn2r99
|
UTSW |
17 |
19,598,891 (GRCm39) |
missense |
probably benign |
0.04 |
R2519:Vmn2r99
|
UTSW |
17 |
19,598,970 (GRCm39) |
missense |
probably damaging |
0.99 |
R3911:Vmn2r99
|
UTSW |
17 |
19,614,635 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3947:Vmn2r99
|
UTSW |
17 |
19,599,252 (GRCm39) |
missense |
probably benign |
0.40 |
R3949:Vmn2r99
|
UTSW |
17 |
19,599,252 (GRCm39) |
missense |
probably benign |
0.40 |
R4016:Vmn2r99
|
UTSW |
17 |
19,598,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4413:Vmn2r99
|
UTSW |
17 |
19,599,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R4594:Vmn2r99
|
UTSW |
17 |
19,613,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R4999:Vmn2r99
|
UTSW |
17 |
19,582,397 (GRCm39) |
start codon destroyed |
probably null |
0.96 |
R5206:Vmn2r99
|
UTSW |
17 |
19,598,868 (GRCm39) |
missense |
probably benign |
0.40 |
R5362:Vmn2r99
|
UTSW |
17 |
19,599,601 (GRCm39) |
missense |
probably benign |
0.00 |
R5377:Vmn2r99
|
UTSW |
17 |
19,599,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R5455:Vmn2r99
|
UTSW |
17 |
19,614,408 (GRCm39) |
nonsense |
probably null |
|
R6021:Vmn2r99
|
UTSW |
17 |
19,598,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R6059:Vmn2r99
|
UTSW |
17 |
19,599,242 (GRCm39) |
missense |
probably benign |
0.00 |
R6214:Vmn2r99
|
UTSW |
17 |
19,602,820 (GRCm39) |
missense |
probably benign |
0.19 |
R6215:Vmn2r99
|
UTSW |
17 |
19,602,820 (GRCm39) |
missense |
probably benign |
0.19 |
R6313:Vmn2r99
|
UTSW |
17 |
19,602,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R6646:Vmn2r99
|
UTSW |
17 |
19,600,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R6810:Vmn2r99
|
UTSW |
17 |
19,600,296 (GRCm39) |
missense |
probably benign |
0.20 |
R6991:Vmn2r99
|
UTSW |
17 |
19,598,372 (GRCm39) |
missense |
probably benign |
0.03 |
R7060:Vmn2r99
|
UTSW |
17 |
19,614,826 (GRCm39) |
nonsense |
probably null |
|
R7090:Vmn2r99
|
UTSW |
17 |
19,613,972 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7094:Vmn2r99
|
UTSW |
17 |
19,599,573 (GRCm39) |
missense |
probably benign |
0.00 |
R7449:Vmn2r99
|
UTSW |
17 |
19,599,407 (GRCm39) |
missense |
probably benign |
0.01 |
R7789:Vmn2r99
|
UTSW |
17 |
19,614,079 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8039:Vmn2r99
|
UTSW |
17 |
19,600,302 (GRCm39) |
missense |
probably benign |
0.00 |
R8493:Vmn2r99
|
UTSW |
17 |
19,614,020 (GRCm39) |
missense |
probably benign |
0.15 |
R8511:Vmn2r99
|
UTSW |
17 |
19,614,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R8715:Vmn2r99
|
UTSW |
17 |
19,613,922 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R9462:Vmn2r99
|
UTSW |
17 |
19,598,388 (GRCm39) |
nonsense |
probably null |
|
R9681:Vmn2r99
|
UTSW |
17 |
19,598,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R9737:Vmn2r99
|
UTSW |
17 |
19,582,563 (GRCm39) |
missense |
probably benign |
|
Z1088:Vmn2r99
|
UTSW |
17 |
19,599,563 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTTTAAGCTTAACACCTTCCTGAAG -3'
(R):5'- GGGGACTTATTGAACACTGTATACTC -3'
Sequencing Primer
(F):5'- TCCTGAAGGATATTGAATTGAAAGAC -3'
(R):5'- TTATTGAACACTGTATACTCCCATTG -3'
|
Posted On |
2018-10-18 |