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: 0.131)
|
| Stock # |
R6885 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
19361949-19401098 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19380195 bp (GRCm38)
|
| 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: 120,520,109 (GRCm38) |
I1025M |
probably benign |
Het |
| Adamtsl5 |
T |
A |
10: 80,343,631 (GRCm38) |
T164S |
probably benign |
Het |
| Ankar |
C |
T |
1: 72,643,036 (GRCm38) |
A1239T |
unknown |
Het |
| Aox4 |
A |
T |
1: 58,264,378 (GRCm38) |
S1192C |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 79,852,553 (GRCm38) |
D68G |
probably damaging |
Het |
| Btnl4 |
T |
C |
17: 34,472,945 (GRCm38) |
I228V |
probably benign |
Het |
| Catsper4 |
T |
C |
4: 134,215,149 (GRCm38) |
T231A |
probably benign |
Het |
| Ccl12 |
A |
T |
11: 82,102,697 (GRCm38) |
T54S |
probably damaging |
Het |
| Cntn1 |
T |
C |
15: 92,243,099 (GRCm38) |
|
probably null |
Het |
| Cog5 |
T |
A |
12: 31,894,199 (GRCm38) |
D694E |
probably damaging |
Het |
| Crat |
T |
A |
2: 30,415,196 (GRCm38) |
|
probably benign |
Het |
| Crot |
T |
C |
5: 8,973,635 (GRCm38) |
T418A |
probably benign |
Het |
| Cubn |
G |
A |
2: 13,318,278 (GRCm38) |
P2826L |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 118,090,772 (GRCm38) |
F1698L |
possibly damaging |
Het |
| Dock8 |
T |
A |
19: 25,147,378 (GRCm38) |
D1019E |
possibly damaging |
Het |
| Eps15 |
A |
G |
4: 109,309,164 (GRCm38) |
N85D |
probably damaging |
Het |
| Exoc1 |
T |
C |
5: 76,559,042 (GRCm38) |
S457P |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 53,101,692 (GRCm38) |
T426I |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 44,952,452 (GRCm38) |
S747P |
possibly damaging |
Het |
| Gas7 |
A |
G |
11: 67,683,387 (GRCm38) |
D396G |
probably damaging |
Het |
| Gm13023 |
T |
C |
4: 143,793,533 (GRCm38) |
C116R |
probably damaging |
Het |
| Gm5114 |
G |
T |
7: 39,408,156 (GRCm38) |
R680S |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,554,074 (GRCm38) |
L94M |
possibly damaging |
Het |
| Gse1 |
C |
A |
8: 120,229,482 (GRCm38) |
|
probably benign |
Het |
| Hmgb1 |
T |
C |
5: 149,050,661 (GRCm38) |
E26G |
probably benign |
Het |
| Incenp |
C |
T |
19: 9,875,132 (GRCm38) |
R714Q |
unknown |
Het |
| Krt73 |
T |
C |
15: 101,796,398 (GRCm38) |
E351G |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 79,047,295 (GRCm38) |
|
probably null |
Het |
| Lpin2 |
T |
G |
17: 71,215,150 (GRCm38) |
S60A |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,742,620 (GRCm38) |
|
probably null |
Het |
| Mafb |
A |
G |
2: 160,366,019 (GRCm38) |
S220P |
possibly damaging |
Het |
| Maml3 |
TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC |
3: 51,697,579 (GRCm38) |
|
|
Het |
| Mcmbp |
T |
C |
7: 128,725,109 (GRCm38) |
|
probably null |
Het |
| Olfr1191-ps1 |
A |
G |
2: 88,643,597 (GRCm38) |
T277A |
probably damaging |
Het |
| Olfr390 |
A |
T |
11: 73,787,100 (GRCm38) |
H54L |
possibly damaging |
Het |
| Paqr9 |
T |
C |
9: 95,560,043 (GRCm38) |
S29P |
probably benign |
Het |
| Parm1 |
A |
G |
5: 91,594,210 (GRCm38) |
T146A |
possibly damaging |
Het |
| Pgm1 |
T |
A |
5: 64,103,878 (GRCm38) |
F238L |
probably benign |
Het |
| Pigv |
A |
T |
4: 133,665,481 (GRCm38) |
F126Y |
probably damaging |
Het |
| Pitx2 |
T |
C |
3: 129,218,608 (GRCm38) |
M222T |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,378,730 (GRCm38) |
N37S |
probably benign |
Het |
| Psme4 |
A |
T |
11: 30,834,307 (GRCm38) |
K961* |
probably null |
Het |
| Rbpj |
T |
C |
5: 53,653,151 (GRCm38) |
W392R |
probably damaging |
Het |
| Reg3a |
T |
A |
6: 78,381,055 (GRCm38) |
|
probably null |
Het |
| Rfc3 |
C |
T |
5: 151,648,284 (GRCm38) |
S85N |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,458,331 (GRCm38) |
T80A |
probably benign |
Het |
| Sash1 |
T |
C |
10: 8,784,221 (GRCm38) |
T195A |
probably damaging |
Het |
| Ska1 |
A |
G |
18: 74,206,839 (GRCm38) |
V12A |
probably benign |
Het |
| Slc25a1 |
A |
G |
16: 17,927,430 (GRCm38) |
V80A |
probably benign |
Het |
| Slc26a5 |
A |
T |
5: 21,834,344 (GRCm38) |
V217D |
probably damaging |
Het |
| Slc46a1 |
A |
G |
11: 78,466,979 (GRCm38) |
D286G |
probably benign |
Het |
| Spata2l |
A |
T |
8: 123,235,558 (GRCm38) |
L88Q |
probably damaging |
Het |
| Sptbn1 |
T |
G |
11: 30,138,634 (GRCm38) |
Q876P |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 36,023,580 (GRCm38) |
I2377F |
possibly damaging |
Het |
| Thbs4 |
A |
T |
13: 92,762,869 (GRCm38) |
D539E |
probably damaging |
Het |
| Tmem154 |
T |
A |
3: 84,692,506 (GRCm38) |
C162S |
possibly damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,544,437 (GRCm38) |
E502G |
probably benign |
Het |
| Traf7 |
G |
A |
17: 24,512,292 (GRCm38) |
R257C |
probably benign |
Het |
| Tsc22d2 |
T |
C |
3: 58,416,208 (GRCm38) |
Y174H |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,752,310 (GRCm38) |
E802G |
probably damaging |
Het |
| Vmn1r5 |
T |
C |
6: 56,986,057 (GRCm38) |
V239A |
possibly damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,686,464 (GRCm38) |
F856L |
probably damaging |
Het |
|
| Other mutations in Vmn2r99 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00503:Vmn2r99
|
APN |
17 |
19,378,854 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01113:Vmn2r99
|
APN |
17 |
19,394,256 (GRCm38) |
missense |
probably benign |
0.20 |
|
IGL01138:Vmn2r99
|
APN |
17 |
19,382,623 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL01646:Vmn2r99
|
APN |
17 |
19,393,658 (GRCm38) |
splice site |
probably benign |
|
|
IGL01769:Vmn2r99
|
APN |
17 |
19,380,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02112:Vmn2r99
|
APN |
17 |
19,380,232 (GRCm38) |
missense |
probably null |
0.99 |
|
IGL02891:Vmn2r99
|
APN |
17 |
19,378,690 (GRCm38) |
nonsense |
probably null |
|
|
IGL03132:Vmn2r99
|
APN |
17 |
19,378,223 (GRCm38) |
nonsense |
probably null |
|
|
FR4548:Vmn2r99
|
UTSW |
17 |
19,394,285 (GRCm38) |
missense |
probably damaging |
0.97 |
|
FR4976:Vmn2r99
|
UTSW |
17 |
19,394,285 (GRCm38) |
missense |
probably damaging |
0.97 |
|
PIT4382001:Vmn2r99
|
UTSW |
17 |
19,394,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0196:Vmn2r99
|
UTSW |
17 |
19,394,573 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0720:Vmn2r99
|
UTSW |
17 |
19,379,043 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1501:Vmn2r99
|
UTSW |
17 |
19,362,259 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1519:Vmn2r99
|
UTSW |
17 |
19,380,060 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1670:Vmn2r99
|
UTSW |
17 |
19,362,252 (GRCm38) |
missense |
probably benign |
0.37 |
|
R1682:Vmn2r99
|
UTSW |
17 |
19,377,945 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1873:Vmn2r99
|
UTSW |
17 |
19,362,153 (GRCm38) |
missense |
probably benign |
0.25 |
|
R1967:Vmn2r99
|
UTSW |
17 |
19,378,815 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2101:Vmn2r99
|
UTSW |
17 |
19,377,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2474:Vmn2r99
|
UTSW |
17 |
19,378,629 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2519:Vmn2r99
|
UTSW |
17 |
19,378,708 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3911:Vmn2r99
|
UTSW |
17 |
19,394,373 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3947:Vmn2r99
|
UTSW |
17 |
19,378,990 (GRCm38) |
missense |
probably benign |
0.40 |
|
R3949:Vmn2r99
|
UTSW |
17 |
19,378,990 (GRCm38) |
missense |
probably benign |
0.40 |
|
R4016:Vmn2r99
|
UTSW |
17 |
19,378,570 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R4413:Vmn2r99
|
UTSW |
17 |
19,379,260 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4594:Vmn2r99
|
UTSW |
17 |
19,393,662 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4999:Vmn2r99
|
UTSW |
17 |
19,362,135 (GRCm38) |
start codon destroyed |
probably null |
0.96 |
|
R5206:Vmn2r99
|
UTSW |
17 |
19,378,606 (GRCm38) |
missense |
probably benign |
0.40 |
|
R5362:Vmn2r99
|
UTSW |
17 |
19,379,339 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5377:Vmn2r99
|
UTSW |
17 |
19,379,269 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5455:Vmn2r99
|
UTSW |
17 |
19,394,146 (GRCm38) |
nonsense |
probably null |
|
|
R6021:Vmn2r99
|
UTSW |
17 |
19,377,948 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6059:Vmn2r99
|
UTSW |
17 |
19,378,980 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6214:Vmn2r99
|
UTSW |
17 |
19,382,558 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6215:Vmn2r99
|
UTSW |
17 |
19,382,558 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6313:Vmn2r99
|
UTSW |
17 |
19,382,605 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6646:Vmn2r99
|
UTSW |
17 |
19,380,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6810:Vmn2r99
|
UTSW |
17 |
19,380,034 (GRCm38) |
missense |
probably benign |
0.20 |
|
R6991:Vmn2r99
|
UTSW |
17 |
19,378,110 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7060:Vmn2r99
|
UTSW |
17 |
19,394,564 (GRCm38) |
nonsense |
probably null |
|
|
R7090:Vmn2r99
|
UTSW |
17 |
19,393,710 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7094:Vmn2r99
|
UTSW |
17 |
19,379,311 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7449:Vmn2r99
|
UTSW |
17 |
19,379,145 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7789:Vmn2r99
|
UTSW |
17 |
19,393,817 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8039:Vmn2r99
|
UTSW |
17 |
19,380,040 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8493:Vmn2r99
|
UTSW |
17 |
19,393,758 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8511:Vmn2r99
|
UTSW |
17 |
19,394,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8715:Vmn2r99
|
UTSW |
17 |
19,393,660 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
R9462:Vmn2r99
|
UTSW |
17 |
19,378,126 (GRCm38) |
nonsense |
probably null |
|
|
R9681:Vmn2r99
|
UTSW |
17 |
19,378,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9737:Vmn2r99
|
UTSW |
17 |
19,362,301 (GRCm38) |
missense |
probably benign |
|
|
Z1088:Vmn2r99
|
UTSW |
17 |
19,379,301 (GRCm38) |
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 |
Incidental Mutation