Incidental Mutation 'R4124:Vmn1r215'
| ID |
315325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r215
|
| Ensembl Gene |
ENSMUSG00000099917 |
| Gene Name |
vomeronasal 1 receptor 215 |
| Synonyms |
V1ri2 |
| MMRRC Submission |
041632-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R4124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
23259962-23260864 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23260163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 68
(T68S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072972]
[ENSMUST00000228092]
|
| AlphaFold |
Q8R264 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072972
AA Change: T68S
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072739
Gene: ENSMUSG00000099917
AA Change: T68S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V1R
|
35 |
298 |
2.4e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228092
AA Change: T68S
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,643,345 (GRCm39) |
M338K |
probably damaging |
Het |
| 4933409G03Rik |
T |
A |
2: 68,446,568 (GRCm39) |
|
probably benign |
Het |
| Adamtsl4 |
C |
T |
3: 95,588,982 (GRCm39) |
R483Q |
probably benign |
Het |
| Aldh7a1 |
A |
T |
18: 56,670,395 (GRCm39) |
|
probably benign |
Het |
| Ank |
T |
C |
15: 27,571,709 (GRCm39) |
F327S |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,256,471 (GRCm39) |
|
probably null |
Het |
| Cd6 |
G |
T |
19: 10,767,972 (GRCm39) |
P630T |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
| D630003M21Rik |
C |
T |
2: 158,038,513 (GRCm39) |
V978M |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,370,689 (GRCm39) |
D864G |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,167,902 (GRCm39) |
R1062G |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 63,002,755 (GRCm39) |
E99G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,918,512 (GRCm39) |
D3516G |
probably benign |
Het |
| Gpx6 |
C |
T |
13: 21,501,815 (GRCm39) |
Q146* |
probably null |
Het |
| Grid2 |
A |
T |
6: 63,480,417 (GRCm39) |
Q77L |
probably benign |
Het |
| Hrh1 |
T |
C |
6: 114,457,580 (GRCm39) |
V287A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,731,093 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
T |
13: 41,210,106 (GRCm39) |
D43E |
probably benign |
Het |
| Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
| Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
| Ptpn11 |
T |
C |
5: 121,275,520 (GRCm39) |
S562G |
probably benign |
Het |
| Pxn |
A |
G |
5: 115,684,966 (GRCm39) |
R264G |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,091,267 (GRCm39) |
H144R |
probably benign |
Het |
| Rpgrip1 |
T |
C |
14: 52,389,781 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slamf9 |
T |
C |
1: 172,303,808 (GRCm39) |
I51T |
probably damaging |
Het |
| Tep1 |
C |
T |
14: 51,081,191 (GRCm39) |
R1349Q |
possibly damaging |
Het |
| Tgtp2 |
T |
C |
11: 48,950,238 (GRCm39) |
I111M |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Ypel2 |
A |
G |
11: 86,836,753 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Vmn1r215 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00923:Vmn1r215
|
APN |
13 |
23,260,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02515:Vmn1r215
|
APN |
13 |
23,259,990 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL03061:Vmn1r215
|
APN |
13 |
23,260,088 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4651001:Vmn1r215
|
UTSW |
13 |
23,260,530 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0196:Vmn1r215
|
UTSW |
13 |
23,260,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0816:Vmn1r215
|
UTSW |
13 |
23,260,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0817:Vmn1r215
|
UTSW |
13 |
23,260,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0820:Vmn1r215
|
UTSW |
13 |
23,260,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1104:Vmn1r215
|
UTSW |
13 |
23,260,758 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1733:Vmn1r215
|
UTSW |
13 |
23,260,848 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1912:Vmn1r215
|
UTSW |
13 |
23,260,673 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2010:Vmn1r215
|
UTSW |
13 |
23,260,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Vmn1r215
|
UTSW |
13 |
23,260,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2511:Vmn1r215
|
UTSW |
13 |
23,260,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2877:Vmn1r215
|
UTSW |
13 |
23,260,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3429:Vmn1r215
|
UTSW |
13 |
23,260,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3854:Vmn1r215
|
UTSW |
13 |
23,260,058 (GRCm39) |
missense |
probably benign |
|
|
R4235:Vmn1r215
|
UTSW |
13 |
23,260,101 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4979:Vmn1r215
|
UTSW |
13 |
23,260,064 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4991:Vmn1r215
|
UTSW |
13 |
23,260,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5011:Vmn1r215
|
UTSW |
13 |
23,260,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Vmn1r215
|
UTSW |
13 |
23,260,449 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5070:Vmn1r215
|
UTSW |
13 |
23,260,666 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5589:Vmn1r215
|
UTSW |
13 |
23,260,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Vmn1r215
|
UTSW |
13 |
23,260,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5651:Vmn1r215
|
UTSW |
13 |
23,259,981 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5928:Vmn1r215
|
UTSW |
13 |
23,260,487 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6176:Vmn1r215
|
UTSW |
13 |
23,260,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Vmn1r215
|
UTSW |
13 |
23,260,633 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7270:Vmn1r215
|
UTSW |
13 |
23,260,089 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7313:Vmn1r215
|
UTSW |
13 |
23,260,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7820:Vmn1r215
|
UTSW |
13 |
23,260,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8492:Vmn1r215
|
UTSW |
13 |
23,260,056 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8515:Vmn1r215
|
UTSW |
13 |
23,260,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8835:Vmn1r215
|
UTSW |
13 |
23,260,409 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9428:Vmn1r215
|
UTSW |
13 |
23,260,749 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTAGTGTTGTGCTTAAAGTCAGAAG -3'
(R):5'- AAGGGAATAATTTGGCATGCTG -3'
Sequencing Primer
(F):5'- TGTGCTTAAAGTCAGAAGATGAACTG -3'
(R):5'- AATAATTTGGCATGCTGTTTGTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation