Incidental Mutation 'IGL00661:Vmn1r223'
ID |
14788 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vmn1r223
|
Ensembl Gene |
ENSMUSG00000069280 |
Gene Name |
vomeronasal 1 receptor 223 |
Synonyms |
Gm11330 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
IGL00661
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
23433408-23434493 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 23434254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 283
(S283P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091719]
|
AlphaFold |
Q5SSA0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091719
AA Change: S283P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089312 Gene: ENSMUSG00000069280 AA Change: S283P
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
59 |
N/A |
INTRINSIC |
Pfam:TAS2R
|
63 |
355 |
6.6e-10 |
PFAM |
Pfam:V1R
|
94 |
357 |
2.1e-39 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
G |
4: 144,430,263 (GRCm39) |
V242A |
possibly damaging |
Het |
Antxr2 |
T |
C |
5: 98,152,155 (GRCm39) |
D152G |
probably benign |
Het |
Blmh |
A |
T |
11: 76,856,758 (GRCm39) |
K118* |
probably null |
Het |
Bnip3 |
G |
A |
7: 138,499,801 (GRCm39) |
P62L |
probably damaging |
Het |
Catsperb |
A |
T |
12: 101,554,357 (GRCm39) |
T684S |
probably damaging |
Het |
Chd3 |
C |
A |
11: 69,248,209 (GRCm39) |
K894N |
possibly damaging |
Het |
Chkb |
T |
A |
15: 89,311,794 (GRCm39) |
R133S |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,507,579 (GRCm39) |
N803S |
probably benign |
Het |
Dync2li1 |
A |
T |
17: 84,956,668 (GRCm39) |
D276V |
possibly damaging |
Het |
Erap1 |
T |
C |
13: 74,822,908 (GRCm39) |
|
probably benign |
Het |
Hgsnat |
C |
T |
8: 26,462,965 (GRCm39) |
V70M |
probably benign |
Het |
Leprot |
T |
C |
4: 101,509,673 (GRCm39) |
|
probably null |
Het |
Lhcgr |
G |
A |
17: 89,057,546 (GRCm39) |
A315V |
probably benign |
Het |
Lrrn4 |
C |
T |
2: 132,712,588 (GRCm39) |
V412I |
probably benign |
Het |
Macrod2 |
G |
A |
2: 140,261,824 (GRCm39) |
|
probably null |
Het |
Mmaa |
G |
A |
8: 80,008,199 (GRCm39) |
R13C |
probably damaging |
Het |
Plpp4 |
T |
A |
7: 128,918,023 (GRCm39) |
I66N |
probably damaging |
Het |
Prl4a1 |
T |
C |
13: 28,205,359 (GRCm39) |
V108A |
probably benign |
Het |
Prss1 |
G |
T |
6: 41,439,553 (GRCm39) |
K95N |
possibly damaging |
Het |
Rasa2 |
C |
T |
9: 96,459,606 (GRCm39) |
|
probably benign |
Het |
Relb |
A |
G |
7: 19,350,336 (GRCm39) |
V208A |
possibly damaging |
Het |
Sema3d |
T |
C |
5: 12,555,806 (GRCm39) |
S178P |
probably damaging |
Het |
Slc18a1 |
A |
T |
8: 69,526,383 (GRCm39) |
W102R |
probably benign |
Het |
Slc39a8 |
A |
C |
3: 135,563,873 (GRCm39) |
K239N |
probably benign |
Het |
Stap1 |
A |
G |
5: 86,229,132 (GRCm39) |
H100R |
probably benign |
Het |
Suz12 |
T |
A |
11: 79,889,918 (GRCm39) |
V143E |
probably damaging |
Het |
Tmf1 |
A |
G |
6: 97,153,455 (GRCm39) |
V206A |
probably benign |
Het |
Trim16 |
T |
A |
11: 62,728,058 (GRCm39) |
|
probably benign |
Het |
Ube2b |
C |
T |
11: 51,891,119 (GRCm39) |
|
probably null |
Het |
Wrn |
T |
A |
8: 33,809,173 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Vmn1r223 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01016:Vmn1r223
|
APN |
13 |
23,434,237 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01353:Vmn1r223
|
APN |
13 |
23,433,426 (GRCm39) |
missense |
unknown |
|
IGL01941:Vmn1r223
|
APN |
13 |
23,434,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02976:Vmn1r223
|
APN |
13 |
23,434,165 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03064:Vmn1r223
|
APN |
13 |
23,434,153 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03136:Vmn1r223
|
APN |
13 |
23,433,933 (GRCm39) |
missense |
possibly damaging |
0.81 |
PIT4812001:Vmn1r223
|
UTSW |
13 |
23,434,060 (GRCm39) |
missense |
probably damaging |
0.99 |
R1468:Vmn1r223
|
UTSW |
13 |
23,434,038 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1468:Vmn1r223
|
UTSW |
13 |
23,434,038 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1592:Vmn1r223
|
UTSW |
13 |
23,433,837 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1640:Vmn1r223
|
UTSW |
13 |
23,434,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R2116:Vmn1r223
|
UTSW |
13 |
23,433,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R3076:Vmn1r223
|
UTSW |
13 |
23,434,335 (GRCm39) |
missense |
probably benign |
0.15 |
R4229:Vmn1r223
|
UTSW |
13 |
23,433,585 (GRCm39) |
missense |
probably benign |
0.08 |
R4230:Vmn1r223
|
UTSW |
13 |
23,433,585 (GRCm39) |
missense |
probably benign |
0.08 |
R5420:Vmn1r223
|
UTSW |
13 |
23,433,675 (GRCm39) |
missense |
probably benign |
0.02 |
R6412:Vmn1r223
|
UTSW |
13 |
23,433,825 (GRCm39) |
missense |
probably benign |
0.05 |
R6424:Vmn1r223
|
UTSW |
13 |
23,434,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R6607:Vmn1r223
|
UTSW |
13 |
23,433,919 (GRCm39) |
missense |
probably damaging |
1.00 |
R6944:Vmn1r223
|
UTSW |
13 |
23,433,483 (GRCm39) |
missense |
unknown |
|
R7256:Vmn1r223
|
UTSW |
13 |
23,434,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R8241:Vmn1r223
|
UTSW |
13 |
23,433,982 (GRCm39) |
missense |
probably benign |
0.38 |
R8315:Vmn1r223
|
UTSW |
13 |
23,434,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R8347:Vmn1r223
|
UTSW |
13 |
23,434,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R8975:Vmn1r223
|
UTSW |
13 |
23,434,248 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9075:Vmn1r223
|
UTSW |
13 |
23,433,600 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
Posted On |
2012-12-06 |