Incidental Mutation 'R4473:Vmn1r5'
ID |
330456 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn1r5
|
Ensembl Gene |
ENSMUSG00000090346 |
Gene Name |
vomeronasal 1 receptor 5 |
Synonyms |
V1rc19 |
MMRRC Submission |
041730-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R4473 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
56947320-56963335 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 56962633 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 103
(V103I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154081
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164307]
[ENSMUST00000226130]
[ENSMUST00000228276]
|
AlphaFold |
B2RQT2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000164307
AA Change: V103I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000131092 Gene: ENSMUSG00000090346 AA Change: V103I
Domain | Start | End | E-Value | Type |
Pfam:V1R
|
28 |
293 |
9.7e-53 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226130
AA Change: V103I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228276
AA Change: V103I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot7 |
C |
A |
4: 152,291,313 (GRCm39) |
T93K |
probably damaging |
Het |
Actg1 |
G |
A |
11: 120,239,085 (GRCm39) |
R2C |
probably benign |
Het |
Alb |
T |
C |
5: 90,611,912 (GRCm39) |
C114R |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
Atp2a2 |
A |
T |
5: 122,595,327 (GRCm39) |
S1008T |
probably benign |
Het |
Corin |
T |
C |
5: 72,496,400 (GRCm39) |
S510G |
probably damaging |
Het |
D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
Eddm3b |
A |
G |
14: 51,354,236 (GRCm39) |
T75A |
probably benign |
Het |
Elavl2 |
T |
C |
4: 91,149,246 (GRCm39) |
|
probably null |
Het |
Erc1 |
G |
T |
6: 119,825,417 (GRCm39) |
|
probably null |
Het |
Fancf |
A |
G |
7: 51,511,948 (GRCm39) |
C19R |
probably benign |
Het |
Fastkd2 |
T |
C |
1: 63,770,833 (GRCm39) |
L63P |
probably damaging |
Het |
Fmo1 |
A |
G |
1: 162,677,732 (GRCm39) |
V128A |
possibly damaging |
Het |
Ifnar1 |
T |
C |
16: 91,292,058 (GRCm39) |
V133A |
probably damaging |
Het |
Ighv1-49 |
A |
T |
12: 115,018,959 (GRCm39) |
Y79N |
probably damaging |
Het |
Klhl23 |
A |
G |
2: 69,654,151 (GRCm39) |
E7G |
possibly damaging |
Het |
Mthfd2 |
A |
G |
6: 83,287,517 (GRCm39) |
|
probably benign |
Het |
Or5d35 |
T |
A |
2: 87,855,464 (GRCm39) |
Y133N |
probably damaging |
Het |
Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
Podnl1 |
A |
T |
8: 84,858,614 (GRCm39) |
I505F |
possibly damaging |
Het |
Ppp6r3 |
G |
T |
19: 3,561,978 (GRCm39) |
Q228K |
probably damaging |
Het |
Pramel38 |
A |
G |
5: 94,366,029 (GRCm39) |
N49S |
probably benign |
Het |
Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
Skor2 |
C |
T |
18: 76,947,156 (GRCm39) |
P293S |
unknown |
Het |
Sox18 |
T |
C |
2: 181,312,669 (GRCm39) |
K154R |
probably damaging |
Het |
Tfpi |
A |
T |
2: 84,288,426 (GRCm39) |
L10Q |
probably null |
Het |
Trim66 |
A |
T |
7: 109,081,202 (GRCm39) |
I239N |
probably damaging |
Het |
Ttll1 |
T |
A |
15: 83,376,810 (GRCm39) |
K304N |
probably damaging |
Het |
Vnn1 |
T |
C |
10: 23,770,789 (GRCm39) |
W6R |
probably benign |
Het |
Wdr35 |
A |
G |
12: 9,065,995 (GRCm39) |
Y651C |
probably benign |
Het |
|
Other mutations in Vmn1r5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01674:Vmn1r5
|
APN |
6 |
56,962,911 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02027:Vmn1r5
|
APN |
6 |
56,962,640 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03133:Vmn1r5
|
APN |
6 |
56,962,600 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03412:Vmn1r5
|
APN |
6 |
56,962,918 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0316:Vmn1r5
|
UTSW |
6 |
56,962,784 (GRCm39) |
missense |
probably benign |
0.27 |
R0378:Vmn1r5
|
UTSW |
6 |
56,962,570 (GRCm39) |
missense |
probably benign |
0.00 |
R0946:Vmn1r5
|
UTSW |
6 |
56,963,150 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1511:Vmn1r5
|
UTSW |
6 |
56,962,771 (GRCm39) |
missense |
probably benign |
0.02 |
R1553:Vmn1r5
|
UTSW |
6 |
56,962,483 (GRCm39) |
missense |
probably benign |
0.00 |
R1823:Vmn1r5
|
UTSW |
6 |
56,962,580 (GRCm39) |
missense |
probably damaging |
0.98 |
R3980:Vmn1r5
|
UTSW |
6 |
56,962,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R4742:Vmn1r5
|
UTSW |
6 |
56,963,236 (GRCm39) |
nonsense |
probably null |
|
R5321:Vmn1r5
|
UTSW |
6 |
56,962,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R5364:Vmn1r5
|
UTSW |
6 |
56,962,583 (GRCm39) |
missense |
probably damaging |
0.98 |
R6102:Vmn1r5
|
UTSW |
6 |
56,963,099 (GRCm39) |
missense |
probably damaging |
0.96 |
R6581:Vmn1r5
|
UTSW |
6 |
56,962,366 (GRCm39) |
missense |
probably benign |
|
R6885:Vmn1r5
|
UTSW |
6 |
56,963,042 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7297:Vmn1r5
|
UTSW |
6 |
56,963,204 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8063:Vmn1r5
|
UTSW |
6 |
56,962,583 (GRCm39) |
missense |
probably damaging |
0.98 |
R8766:Vmn1r5
|
UTSW |
6 |
56,963,100 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8968:Vmn1r5
|
UTSW |
6 |
56,963,182 (GRCm39) |
nonsense |
probably null |
|
R9440:Vmn1r5
|
UTSW |
6 |
56,962,415 (GRCm39) |
missense |
possibly damaging |
0.67 |
R9460:Vmn1r5
|
UTSW |
6 |
56,962,829 (GRCm39) |
missense |
|
|
Z1176:Vmn1r5
|
UTSW |
6 |
56,962,933 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGGTCACAGACGTAAGCCC -3'
(R):5'- GAGCAGTATTTAGTAGCCTTCATCTG -3'
Sequencing Primer
(F):5'- AGACCTGATCTCCTGTCAACTGAC -3'
(R):5'- GTTTGGTCTCACTCACATTGG -3'
|
Posted On |
2015-07-21 |