Incidental Mutation 'R2323:Vmn1r234'
| ID |
244824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn1r234
|
| Ensembl Gene |
ENSMUSG00000057203 |
| Gene Name |
vomeronasal 1 receptor 234 |
| Synonyms |
V1rf1 |
| MMRRC Submission |
040314-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R2323 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
21449088-21450078 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21449965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 293
(I293T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079633]
|
| AlphaFold |
Q8R298 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079633
AA Change: I293T
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000078579
Gene: ENSMUSG00000057203
AA Change: I293T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
25 |
315 |
2.8e-14 |
PFAM |
|
Pfam:V1R
|
57 |
318 |
2.3e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177028
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
T |
2: 25,335,187 (GRCm39) |
M2008I |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,743,298 (GRCm39) |
S68P |
probably damaging |
Het |
| Albfm1 |
T |
A |
5: 90,732,711 (GRCm39) |
Y507* |
probably null |
Het |
| Anks3 |
T |
C |
16: 4,768,634 (GRCm39) |
|
probably null |
Het |
| Asap2 |
T |
C |
12: 21,253,969 (GRCm39) |
I160T |
probably damaging |
Het |
| Asb15 |
T |
A |
6: 24,556,600 (GRCm39) |
F32I |
probably benign |
Het |
| Catip |
A |
T |
1: 74,402,437 (GRCm39) |
M103L |
probably benign |
Het |
| Cela2a |
G |
C |
4: 141,553,390 (GRCm39) |
|
probably benign |
Het |
| Crebrf |
T |
C |
17: 26,982,581 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
C |
5: 124,819,064 (GRCm39) |
M450T |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,267,518 (GRCm39) |
S5165P |
possibly damaging |
Het |
| Esrp2 |
T |
A |
8: 106,860,934 (GRCm39) |
D196V |
probably benign |
Het |
| Hmox2 |
A |
T |
16: 4,583,720 (GRCm39) |
K263* |
probably null |
Het |
| Ints10 |
A |
G |
8: 69,271,997 (GRCm39) |
H566R |
probably benign |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Liph |
A |
G |
16: 21,802,754 (GRCm39) |
V105A |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,286,040 (GRCm39) |
Y941* |
probably null |
Het |
| Myo7b |
T |
C |
18: 32,104,398 (GRCm39) |
E1450G |
probably damaging |
Het |
| Myt1 |
G |
T |
2: 181,448,350 (GRCm39) |
A594S |
probably damaging |
Het |
| Npas3 |
T |
A |
12: 54,115,129 (GRCm39) |
Y666N |
probably damaging |
Het |
| Npsr1 |
A |
G |
9: 24,211,732 (GRCm39) |
K240E |
probably damaging |
Het |
| Or52h7 |
T |
C |
7: 104,213,826 (GRCm39) |
F133L |
probably benign |
Het |
| Rtkn2 |
A |
G |
10: 67,837,764 (GRCm39) |
I102M |
probably damaging |
Het |
| Rundc1 |
T |
C |
11: 101,316,101 (GRCm39) |
F58L |
probably damaging |
Het |
| Snrpc |
T |
G |
17: 28,066,948 (GRCm39) |
M91R |
unknown |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,212 (GRCm39) |
K205R |
possibly damaging |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tnfrsf21 |
C |
A |
17: 43,396,420 (GRCm39) |
S568* |
probably null |
Het |
| Tulp1 |
C |
T |
17: 28,581,456 (GRCm39) |
G239D |
probably damaging |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,842 (GRCm39) |
K116E |
probably damaging |
Het |
| Vmn2r98 |
T |
A |
17: 19,286,081 (GRCm39) |
I193K |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,159,307 (GRCm39) |
S575T |
probably damaging |
Het |
| Zfp558 |
A |
T |
9: 18,380,573 (GRCm39) |
|
probably null |
Het |
| Zscan18 |
T |
C |
7: 12,509,386 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Vmn1r234 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Vmn1r234
|
APN |
17 |
21,449,860 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01485:Vmn1r234
|
APN |
17 |
21,449,171 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02149:Vmn1r234
|
APN |
17 |
21,449,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02291:Vmn1r234
|
APN |
17 |
21,449,193 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02993:Vmn1r234
|
APN |
17 |
21,449,965 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03223:Vmn1r234
|
APN |
17 |
21,449,653 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0626:Vmn1r234
|
UTSW |
17 |
21,450,007 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1274:Vmn1r234
|
UTSW |
17 |
21,449,513 (GRCm39) |
frame shift |
probably null |
|
|
R1275:Vmn1r234
|
UTSW |
17 |
21,449,513 (GRCm39) |
frame shift |
probably null |
|
|
R1288:Vmn1r234
|
UTSW |
17 |
21,449,513 (GRCm39) |
frame shift |
probably null |
|
|
R1289:Vmn1r234
|
UTSW |
17 |
21,449,513 (GRCm39) |
frame shift |
probably null |
|
|
R1319:Vmn1r234
|
UTSW |
17 |
21,449,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1412:Vmn1r234
|
UTSW |
17 |
21,449,512 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3755:Vmn1r234
|
UTSW |
17 |
21,449,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4299:Vmn1r234
|
UTSW |
17 |
21,449,283 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5301:Vmn1r234
|
UTSW |
17 |
21,449,589 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5741:Vmn1r234
|
UTSW |
17 |
21,449,731 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6197:Vmn1r234
|
UTSW |
17 |
21,449,589 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6218:Vmn1r234
|
UTSW |
17 |
21,449,983 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6486:Vmn1r234
|
UTSW |
17 |
21,449,604 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7482:Vmn1r234
|
UTSW |
17 |
21,449,637 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7635:Vmn1r234
|
UTSW |
17 |
21,449,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8295:Vmn1r234
|
UTSW |
17 |
21,449,101 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9506:Vmn1r234
|
UTSW |
17 |
21,449,503 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9530:Vmn1r234
|
UTSW |
17 |
21,449,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0028:Vmn1r234
|
UTSW |
17 |
21,449,152 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCTCCAGTGGTTCCATGG -3'
(R):5'- GAATACAAACATTTCTCTGAGCATG -3'
Sequencing Primer
(F):5'- ATGGTTCTCATTTTGCACAGGCAC -3'
(R):5'- TCTCTGAGCATGATAATTAATGTCAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation