Incidental Mutation 'R3010:Vmn2r113'
| ID |
257485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r113
|
| Ensembl Gene |
ENSMUSG00000092111 |
| Gene Name |
vomeronasal 2, receptor 113 |
| Synonyms |
EG434701 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R3010 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23162158-23177788 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23177105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 630
(S630P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170322]
|
| AlphaFold |
E9PZA6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170322
AA Change: S630P
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127981
Gene: ENSMUSG00000092111
AA Change: S630P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
146 |
470 |
9e-26 |
PFAM |
|
Pfam:NCD3G
|
512 |
564 |
5.1e-21 |
PFAM |
|
Pfam:7tm_3
|
595 |
832 |
5.7e-56 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,369,966 (GRCm39) |
E591G |
probably benign |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Cgrrf1 |
T |
C |
14: 47,091,223 (GRCm39) |
V249A |
probably benign |
Het |
| Kctd1 |
T |
C |
18: 15,107,143 (GRCm39) |
E178G |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Mx2 |
T |
C |
16: 97,347,999 (GRCm39) |
V208A |
possibly damaging |
Het |
| Pacs2 |
T |
C |
12: 113,024,700 (GRCm39) |
S427P |
probably benign |
Het |
| Pdzrn4 |
A |
G |
15: 92,667,692 (GRCm39) |
I615V |
probably benign |
Het |
| Ptpn1 |
C |
A |
2: 167,816,742 (GRCm39) |
Q266K |
probably damaging |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Tbx15 |
A |
G |
3: 99,161,209 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
G |
A |
17: 43,938,933 (GRCm39) |
T705I |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Zdbf2 |
T |
A |
1: 63,342,224 (GRCm39) |
V201D |
possibly damaging |
Het |
| Zer1 |
A |
G |
2: 30,003,297 (GRCm39) |
I40T |
probably benign |
Het |
|
| Other mutations in Vmn2r113 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01318:Vmn2r113
|
APN |
17 |
23,177,309 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01386:Vmn2r113
|
APN |
17 |
23,175,024 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01743:Vmn2r113
|
APN |
17 |
23,177,285 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02224:Vmn2r113
|
APN |
17 |
23,174,960 (GRCm39) |
nonsense |
probably null |
|
|
IGL02498:Vmn2r113
|
APN |
17 |
23,177,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02969:Vmn2r113
|
APN |
17 |
23,177,591 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03010:Vmn2r113
|
APN |
17 |
23,175,038 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03240:Vmn2r113
|
APN |
17 |
23,174,931 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1853:Vmn2r113
|
UTSW |
17 |
23,164,501 (GRCm39) |
missense |
probably benign |
|
|
R2058:Vmn2r113
|
UTSW |
17 |
23,177,223 (GRCm39) |
nonsense |
probably null |
|
|
R4942:Vmn2r113
|
UTSW |
17 |
23,177,321 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5072:Vmn2r113
|
UTSW |
17 |
23,177,329 (GRCm39) |
nonsense |
probably null |
|
|
R5755:Vmn2r113
|
UTSW |
17 |
23,176,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6513:Vmn2r113
|
UTSW |
17 |
23,177,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7164:Vmn2r113
|
UTSW |
17 |
23,167,137 (GRCm39) |
missense |
probably benign |
|
|
R7936:Vmn2r113
|
UTSW |
17 |
23,176,917 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8087:Vmn2r113
|
UTSW |
17 |
23,177,711 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8193:Vmn2r113
|
UTSW |
17 |
23,164,501 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8196:Vmn2r113
|
UTSW |
17 |
23,176,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8414:Vmn2r113
|
UTSW |
17 |
23,177,753 (GRCm39) |
nonsense |
probably null |
|
|
R8490:Vmn2r113
|
UTSW |
17 |
23,177,372 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTGTCCAGAAGACCAATATGC -3'
(R):5'- ACTTCATCATTCTTTGAGGGGCTG -3'
Sequencing Primer
(F):5'- TGCTAATACAGAGCAGAATCACTG -3'
(R):5'- GCTGTGACTCTGAATGCCAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation