Incidental Mutation 'IGL01138:Vmn2r99'
| ID |
53114 |
| 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 # |
IGL01138
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
19361949-19401098 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19382623 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 547
(T547S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176107]
[ENSMUST00000231989]
|
| AlphaFold |
H3BK37 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176107
AA Change: T547S
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135236
Gene: ENSMUSG00000090304
AA Change: T547S
| 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 damaging
Transcript: ENSMUST00000231989
AA Change: T547S
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
A |
G |
13: 60,854,859 (GRCm38) |
V27A |
probably benign |
Het |
| Abcg5 |
T |
A |
17: 84,664,847 (GRCm38) |
R499S |
possibly damaging |
Het |
| Adamts13 |
T |
C |
2: 26,983,042 (GRCm38) |
S341P |
probably damaging |
Het |
| Adgrg1 |
T |
A |
8: 95,003,457 (GRCm38) |
C96S |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 65,041,449 (GRCm38) |
F215S |
probably damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,184,170 (GRCm38) |
F400L |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,930,325 (GRCm38) |
E384G |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,678,053 (GRCm38) |
D1314G |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,807,510 (GRCm38) |
I806F |
probably damaging |
Het |
| Coro1c |
G |
A |
5: 113,852,161 (GRCm38) |
|
probably benign |
Het |
| CT030661.1 |
G |
A |
17: 22,202,668 (GRCm38) |
|
probably benign |
Het |
| Dnmt3b |
A |
T |
2: 153,661,441 (GRCm38) |
D4V |
probably benign |
Het |
| Ermn |
G |
T |
2: 58,052,695 (GRCm38) |
L8M |
possibly damaging |
Het |
| F13b |
T |
A |
1: 139,517,212 (GRCm38) |
N533K |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,202,620 (GRCm38) |
V93A |
possibly damaging |
Het |
| Gpr107 |
T |
A |
2: 31,172,016 (GRCm38) |
L152Q |
probably benign |
Het |
| Guca1a |
C |
A |
17: 47,400,384 (GRCm38) |
E12D |
probably damaging |
Het |
| Igtp |
A |
G |
11: 58,206,144 (GRCm38) |
N47S |
possibly damaging |
Het |
| Lratd2 |
T |
A |
15: 60,823,118 (GRCm38) |
I260F |
probably damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,234,084 (GRCm38) |
N103S |
probably damaging |
Het |
| Lsmem1 |
A |
G |
12: 40,180,699 (GRCm38) |
L68P |
probably damaging |
Het |
| Maml3 |
A |
G |
3: 51,690,558 (GRCm38) |
S902P |
possibly damaging |
Het |
| Mkln1 |
A |
T |
6: 31,432,990 (GRCm38) |
N188Y |
probably damaging |
Het |
| Mlxip |
C |
T |
5: 123,450,156 (GRCm38) |
R771W |
probably damaging |
Het |
| Myf6 |
T |
C |
10: 107,494,398 (GRCm38) |
R103G |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,517,579 (GRCm38) |
I481K |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,355,538 (GRCm38) |
S645C |
probably damaging |
Het |
| Nup205 |
G |
T |
6: 35,208,084 (GRCm38) |
E813* |
probably null |
Het |
| Or13c7c |
A |
G |
4: 43,835,617 (GRCm38) |
L291P |
probably damaging |
Het |
| Plekhg5 |
C |
T |
4: 152,106,978 (GRCm38) |
R410W |
probably damaging |
Het |
| Pnma8b |
C |
A |
7: 16,945,163 (GRCm38) |
T24K |
unknown |
Het |
| Polq |
A |
T |
16: 37,045,869 (GRCm38) |
Y476F |
possibly damaging |
Het |
| Prkd2 |
T |
C |
7: 16,848,811 (GRCm38) |
S200P |
probably damaging |
Het |
| Rif1 |
C |
A |
2: 52,111,522 (GRCm38) |
L1663I |
probably damaging |
Het |
| Serpina5 |
A |
G |
12: 104,103,744 (GRCm38) |
Y300C |
possibly damaging |
Het |
| Shroom4 |
T |
C |
X: 6,585,203 (GRCm38) |
S806P |
probably damaging |
Het |
| Sirpa |
T |
C |
2: 129,630,165 (GRCm38) |
V290A |
probably damaging |
Het |
| Slc25a47 |
C |
T |
12: 108,856,022 (GRCm38) |
R246C |
probably damaging |
Het |
| Slc9a6 |
A |
G |
X: 56,623,431 (GRCm38) |
D199G |
probably damaging |
Het |
| Smarca5 |
T |
A |
8: 80,701,076 (GRCm38) |
K1048M |
possibly damaging |
Het |
| Sos2 |
C |
T |
12: 69,616,849 (GRCm38) |
|
probably benign |
Het |
| Trpm5 |
T |
A |
7: 143,074,569 (GRCm38) |
M990L |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,446,770 (GRCm38) |
|
probably benign |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation