Incidental Mutation 'IGL02112:Vmn2r99'
| ID |
280180 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vmn2r99
|
| Ensembl Gene |
ENSMUSG00000090304 |
| Gene Name |
vomeronasal 2, receptor 99 |
| Synonyms |
EG665376 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
IGL02112
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
19361949-19401098 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19380232 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 506
(E506G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176107]
[ENSMUST00000231989]
|
| AlphaFold |
H3BK37 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000176107
AA Change: E506G
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135236
Gene: ENSMUSG00000090304
AA Change: E506G
| 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 |
probably null
Transcript: ENSMUST00000231989
AA Change: E506G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016K19Rik |
G |
T |
11: 76,003,388 (GRCm38) |
C197F |
probably benign |
Het |
| Adam34 |
T |
A |
8: 43,651,138 (GRCm38) |
Y490F |
possibly damaging |
Het |
| Appbp2 |
A |
T |
11: 85,201,620 (GRCm38) |
H271Q |
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 123,318,417 (GRCm38) |
D181E |
possibly damaging |
Het |
| Arhgap25 |
T |
A |
6: 87,467,937 (GRCm38) |
Y286F |
possibly damaging |
Het |
| Atf2 |
T |
C |
2: 73,819,037 (GRCm38) |
K352R |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,037,800 (GRCm38) |
T2076I |
probably benign |
Het |
| C1s2 |
A |
G |
6: 124,625,308 (GRCm38) |
V642A |
probably benign |
Het |
| Cldn18 |
T |
A |
9: 99,698,075 (GRCm38) |
T170S |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,313,858 (GRCm38) |
H977Q |
probably benign |
Het |
| Col15a1 |
T |
A |
4: 47,253,985 (GRCm38) |
|
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,081,705 (GRCm38) |
Y1669N |
probably benign |
Het |
| Csmd3 |
A |
C |
15: 48,313,869 (GRCm38) |
S424R |
possibly damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,570,983 (GRCm38) |
D306G |
probably damaging |
Het |
| Dusp27 |
C |
A |
1: 166,099,671 (GRCm38) |
E791* |
probably null |
Het |
| E2f2 |
A |
G |
4: 136,192,834 (GRCm38) |
T377A |
probably benign |
Het |
| Edil3 |
A |
G |
13: 89,180,255 (GRCm38) |
D276G |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,782,342 (GRCm38) |
Y305N |
probably damaging |
Het |
| Erbin |
T |
C |
13: 103,862,336 (GRCm38) |
N181D |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,662,514 (GRCm38) |
Q494R |
probably damaging |
Het |
| Gm16519 |
T |
C |
17: 70,929,296 (GRCm38) |
I80T |
probably damaging |
Het |
| Haus8 |
T |
A |
8: 71,255,561 (GRCm38) |
E163V |
probably damaging |
Het |
| Hephl1 |
G |
T |
9: 15,081,815 (GRCm38) |
|
probably benign |
Het |
| Hnrnph3 |
A |
G |
10: 63,016,405 (GRCm38) |
|
probably null |
Het |
| Mast2 |
A |
T |
4: 116,319,764 (GRCm38) |
C437S |
probably damaging |
Het |
| Mef2a |
A |
C |
7: 67,264,872 (GRCm38) |
S91R |
probably damaging |
Het |
| Mfge8 |
A |
T |
7: 79,143,340 (GRCm38) |
V126D |
probably benign |
Het |
| Nrd1 |
A |
G |
4: 109,027,432 (GRCm38) |
|
probably benign |
Het |
| Olfr77 |
T |
A |
9: 19,920,525 (GRCm38) |
N105K |
possibly damaging |
Het |
| Panx2 |
A |
G |
15: 89,069,569 (GRCm38) |
T576A |
probably benign |
Het |
| Per3 |
T |
C |
4: 151,029,183 (GRCm38) |
Y306C |
probably benign |
Het |
| Ppm1h |
G |
A |
10: 122,802,400 (GRCm38) |
G192R |
possibly damaging |
Het |
| Prss22 |
T |
C |
17: 23,993,971 (GRCm38) |
E264G |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,585,042 (GRCm38) |
|
probably benign |
Het |
| Rpl7a-ps8 |
C |
A |
7: 19,954,060 (GRCm38) |
|
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,433,599 (GRCm38) |
D377G |
probably benign |
Het |
| Sh3bp1 |
T |
C |
15: 78,905,884 (GRCm38) |
|
probably null |
Het |
| Sobp |
A |
G |
10: 43,021,877 (GRCm38) |
S571P |
probably benign |
Het |
| Syce1 |
C |
A |
7: 140,779,632 (GRCm38) |
M114I |
probably benign |
Het |
| Tdrd6 |
G |
A |
17: 43,629,351 (GRCm38) |
R269W |
probably damaging |
Het |
| Tmprss13 |
T |
C |
9: 45,339,404 (GRCm38) |
S408P |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,633,402 (GRCm38) |
T706A |
probably benign |
Het |
| Tpcn2 |
A |
G |
7: 145,256,792 (GRCm38) |
S603P |
probably benign |
Het |
| Trmt12 |
A |
T |
15: 58,872,816 (GRCm38) |
Q21L |
probably damaging |
Het |
| Vmn1r68 |
C |
T |
7: 10,527,860 (GRCm38) |
G104S |
probably damaging |
Het |
| Vmn2r82 |
T |
C |
10: 79,395,999 (GRCm38) |
W611R |
probably benign |
Het |
| Vmn2r90 |
C |
A |
17: 17,712,203 (GRCm38) |
T124K |
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 |
|
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 |
|
R6885:Vmn2r99
|
UTSW |
17 |
19,380,195 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation