Incidental Mutation 'R6642:Vmn1r233'
ID |
525885 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r233
|
Ensembl Gene |
ENSMUSG00000045575 |
Gene Name |
vomeronasal 1 receptor 233 |
Synonyms |
V1rf5 |
MMRRC Submission |
044763-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R6642 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
21213989-21214948 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 21214002 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 316
(L316Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056339]
|
AlphaFold |
Q8R294 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056339
AA Change: L316Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000062473 Gene: ENSMUSG00000045575 AA Change: L316Q
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
8 |
304 |
4.8e-11 |
PFAM |
Pfam:7tm_1
|
11 |
297 |
7.9e-7 |
PFAM |
Pfam:V1R
|
40 |
303 |
1.3e-24 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
Validation Efficiency |
100% (35/35) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
T |
A |
2: 152,282,790 (GRCm39) |
V215D |
probably damaging |
Het |
Ablim1 |
A |
G |
19: 57,119,284 (GRCm39) |
S267P |
probably benign |
Het |
Adcy2 |
C |
T |
13: 68,768,945 (GRCm39) |
C1061Y |
probably damaging |
Het |
Aip |
C |
A |
19: 4,165,149 (GRCm39) |
C240F |
probably damaging |
Het |
Aldh1a2 |
A |
T |
9: 71,160,268 (GRCm39) |
D98V |
probably damaging |
Het |
Arhgef40 |
T |
C |
14: 52,228,419 (GRCm39) |
|
probably benign |
Het |
Cplx2 |
G |
T |
13: 54,526,736 (GRCm39) |
R48L |
probably damaging |
Het |
Ctrl |
C |
T |
8: 106,659,451 (GRCm39) |
|
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,353,006 (GRCm39) |
T2720A |
probably benign |
Het |
Fzd1 |
A |
G |
5: 4,805,696 (GRCm39) |
Y629H |
probably damaging |
Het |
Gins1 |
T |
C |
2: 150,770,038 (GRCm39) |
|
probably null |
Het |
Gpr149 |
C |
T |
3: 62,437,995 (GRCm39) |
A721T |
probably damaging |
Het |
Helb |
A |
T |
10: 119,920,835 (GRCm39) |
M1036K |
probably benign |
Het |
Il16 |
A |
G |
7: 83,337,335 (GRCm39) |
F127L |
probably benign |
Het |
Kctd20 |
A |
T |
17: 29,180,640 (GRCm39) |
H138L |
probably damaging |
Het |
Kctd9 |
T |
A |
14: 67,962,122 (GRCm39) |
L55* |
probably null |
Het |
Marf1 |
C |
T |
16: 13,950,611 (GRCm39) |
R925H |
probably benign |
Het |
Mbip |
A |
T |
12: 56,389,191 (GRCm39) |
|
probably benign |
Het |
Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
Nod1 |
T |
G |
6: 54,925,014 (GRCm39) |
D99A |
probably damaging |
Het |
Olfm4 |
A |
G |
14: 80,259,107 (GRCm39) |
K419E |
probably damaging |
Het |
Or6c214 |
A |
T |
10: 129,591,232 (GRCm39) |
L29Q |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,521,845 (GRCm39) |
D137G |
probably benign |
Het |
Prdm4 |
T |
C |
10: 85,743,682 (GRCm39) |
E191G |
probably benign |
Het |
Rassf10 |
A |
T |
7: 112,554,784 (GRCm39) |
T462S |
probably benign |
Het |
Rundc3b |
A |
T |
5: 8,629,071 (GRCm39) |
I110N |
probably damaging |
Het |
Sgsm3 |
C |
T |
15: 80,893,901 (GRCm39) |
R479C |
probably damaging |
Het |
Tmc7 |
A |
T |
7: 118,144,834 (GRCm39) |
Y575* |
probably null |
Het |
Trim33 |
T |
C |
3: 103,244,830 (GRCm39) |
L310S |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
Ttn |
T |
C |
2: 76,565,740 (GRCm39) |
E28204G |
probably damaging |
Het |
Vmn2r110 |
A |
T |
17: 20,803,779 (GRCm39) |
N265K |
possibly damaging |
Het |
Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
Het |
|
Other mutations in Vmn1r233 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01843:Vmn1r233
|
APN |
17 |
21,214,861 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01912:Vmn1r233
|
APN |
17 |
21,214,467 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02642:Vmn1r233
|
APN |
17 |
21,214,291 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02730:Vmn1r233
|
APN |
17 |
21,214,057 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02754:Vmn1r233
|
APN |
17 |
21,214,886 (GRCm39) |
missense |
probably benign |
|
IGL02754:Vmn1r233
|
APN |
17 |
21,214,887 (GRCm39) |
missense |
probably benign |
0.37 |
BB008:Vmn1r233
|
UTSW |
17 |
21,214,125 (GRCm39) |
missense |
probably benign |
|
BB018:Vmn1r233
|
UTSW |
17 |
21,214,125 (GRCm39) |
missense |
probably benign |
|
R0368:Vmn1r233
|
UTSW |
17 |
21,214,869 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1894:Vmn1r233
|
UTSW |
17 |
21,213,994 (GRCm39) |
missense |
probably benign |
0.02 |
R2507:Vmn1r233
|
UTSW |
17 |
21,214,110 (GRCm39) |
missense |
probably benign |
0.29 |
R4609:Vmn1r233
|
UTSW |
17 |
21,214,677 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4662:Vmn1r233
|
UTSW |
17 |
21,214,393 (GRCm39) |
missense |
probably benign |
0.16 |
R4686:Vmn1r233
|
UTSW |
17 |
21,214,368 (GRCm39) |
missense |
probably benign |
0.33 |
R4721:Vmn1r233
|
UTSW |
17 |
21,214,879 (GRCm39) |
missense |
probably benign |
|
R5559:Vmn1r233
|
UTSW |
17 |
21,214,839 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5651:Vmn1r233
|
UTSW |
17 |
21,214,279 (GRCm39) |
missense |
probably benign |
0.00 |
R7285:Vmn1r233
|
UTSW |
17 |
21,214,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R7931:Vmn1r233
|
UTSW |
17 |
21,214,125 (GRCm39) |
missense |
probably benign |
|
R7936:Vmn1r233
|
UTSW |
17 |
21,214,237 (GRCm39) |
nonsense |
probably null |
|
R7984:Vmn1r233
|
UTSW |
17 |
21,214,417 (GRCm39) |
missense |
probably damaging |
0.99 |
R8059:Vmn1r233
|
UTSW |
17 |
21,214,698 (GRCm39) |
missense |
probably benign |
0.06 |
R9422:Vmn1r233
|
UTSW |
17 |
21,214,069 (GRCm39) |
missense |
possibly damaging |
0.77 |
Z1176:Vmn1r233
|
UTSW |
17 |
21,214,920 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAGCTTGTGTACAAAATGACACAC -3'
(R):5'- AATGCCCAGGATGAATGTTTCTTC -3'
Sequencing Primer
(F):5'- CTCCACAGTCACTTGTCA -3'
(R):5'- GATGAATGTTTCTTCCAAATCCACC -3'
|
Posted On |
2018-06-22 |