Incidental Mutation 'R6412:Vmn1r223'
| ID |
514636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r223
|
| Ensembl Gene |
ENSMUSG00000069280 |
| Gene Name |
vomeronasal 1 receptor 223 |
| Synonyms |
Gm11330 |
| MMRRC Submission |
044385-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R6412 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
23433408-23434493 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 23433825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 140
(V140F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091719]
|
| AlphaFold |
Q5SSA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091719
AA Change: V140F
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000089312
Gene: ENSMUSG00000069280
AA Change: V140F
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
A |
G |
9: 107,807,116 (GRCm39) |
I480V |
probably benign |
Het |
| BC025920 |
T |
C |
10: 81,445,195 (GRCm39) |
V106A |
probably benign |
Het |
| Bhlhe23 |
A |
G |
2: 180,417,963 (GRCm39) |
F192L |
possibly damaging |
Het |
| Cftr |
C |
T |
6: 18,285,603 (GRCm39) |
T1137I |
probably damaging |
Het |
| Chst8 |
T |
C |
7: 34,375,504 (GRCm39) |
M112V |
probably benign |
Het |
| Cilk1 |
T |
C |
9: 78,047,258 (GRCm39) |
S53P |
probably damaging |
Het |
| Fbxw26 |
T |
A |
9: 109,561,715 (GRCm39) |
M160L |
probably damaging |
Het |
| Gm3264 |
A |
G |
14: 16,058,238 (GRCm39) |
K81R |
probably damaging |
Het |
| Htr3b |
T |
C |
9: 48,857,819 (GRCm39) |
N141S |
possibly damaging |
Het |
| Itgb2l |
T |
C |
16: 96,228,929 (GRCm39) |
S425G |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,638 (GRCm39) |
E64G |
probably damaging |
Het |
| Lct |
T |
C |
1: 128,255,455 (GRCm39) |
T196A |
probably benign |
Het |
| Luzp2 |
T |
C |
7: 54,707,794 (GRCm39) |
S61P |
probably damaging |
Het |
| Or4b1b |
G |
T |
2: 90,112,202 (GRCm39) |
A239D |
probably damaging |
Het |
| Or5l14 |
A |
T |
2: 87,792,693 (GRCm39) |
L181Q |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,865 (GRCm39) |
V759A |
probably damaging |
Het |
| Ret |
C |
T |
6: 118,161,245 (GRCm39) |
R77H |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sbno1 |
T |
C |
5: 124,530,777 (GRCm39) |
T840A |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,059,276 (GRCm39) |
V1057A |
possibly damaging |
Het |
| Spocd1 |
C |
T |
4: 129,847,365 (GRCm39) |
S518L |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,897,339 (GRCm39) |
L723R |
probably damaging |
Het |
| Vmn2r52 |
A |
G |
7: 9,904,936 (GRCm39) |
V301A |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,656,279 (GRCm39) |
F2615L |
probably benign |
Het |
| Wdr81 |
G |
T |
11: 75,341,989 (GRCm39) |
P1093T |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,242,902 (GRCm39) |
E135G |
probably benign |
Het |
| Zfp990 |
C |
A |
4: 145,264,138 (GRCm39) |
P379T |
probably benign |
Het |
|
| Other mutations in Vmn1r223 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Vmn1r223
|
APN |
13 |
23,434,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACTTGGAGTTTTAGGAAACATC -3'
(R):5'- TGATATAGTGCAGCAAATTGGAGC -3'
Sequencing Primer
(F):5'- AGGAAACATCATCTTATTTGTGAGAC -3'
(R):5'- TGCAGCAAATTGGAGCTTATG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation