Incidental Mutation 'R8207:Flvcr2'
ID |
635973 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flvcr2
|
Ensembl Gene |
ENSMUSG00000034258 |
Gene Name |
feline leukemia virus subgroup C cellular receptor 2 |
Synonyms |
CCT, Mfsd7c |
MMRRC Submission |
067630-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.887)
|
Stock # |
R8207 (G1)
|
Quality Score |
217.468 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
85793313-85860359 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GTAGTGTATA to GTA
at 85849922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035569
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040461]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000040461
|
SMART Domains |
Protein: ENSMUSP00000035569 Gene: ENSMUSG00000034258
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
113 |
477 |
1.7e-30 |
PFAM |
transmembrane domain
|
488 |
510 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (49/49) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the major facilitator superfamily. The encoded transmembrane protein is a calcium transporter. Unlike the related protein feline leukemia virus subgroup C receptor 1, the protein encoded by this locus does not bind to feline leukemia virus subgroup C envelope protein. The encoded protein may play a role in development of brain vascular endothelial cells, as mutations at this locus have been associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Aug 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aen |
G |
A |
7: 78,552,491 (GRCm39) |
M150I |
possibly damaging |
Het |
Arhgef11 |
A |
G |
3: 87,606,082 (GRCm39) |
N279S |
possibly damaging |
Het |
Arid3a |
T |
C |
10: 79,786,760 (GRCm39) |
|
probably null |
Het |
Casp8ap2 |
A |
G |
4: 32,646,446 (GRCm39) |
T1840A |
possibly damaging |
Het |
Ccdc14 |
T |
A |
16: 34,525,413 (GRCm39) |
N235K |
possibly damaging |
Het |
Cdh20 |
T |
C |
1: 109,922,076 (GRCm39) |
V56A |
probably damaging |
Het |
Clec16a |
G |
A |
16: 10,512,574 (GRCm39) |
R837H |
probably damaging |
Het |
Clec16a |
A |
G |
16: 10,445,312 (GRCm39) |
N518S |
probably benign |
Het |
Cog7 |
T |
C |
7: 121,576,515 (GRCm39) |
D137G |
possibly damaging |
Het |
Cpt1b |
T |
C |
15: 89,303,018 (GRCm39) |
T649A |
probably damaging |
Het |
Efcab8 |
C |
G |
2: 153,631,145 (GRCm39) |
L192V |
probably damaging |
Het |
Farp2 |
A |
G |
1: 93,548,965 (GRCm39) |
R1024G |
probably benign |
Het |
Fmo1 |
T |
A |
1: 162,677,676 (GRCm39) |
T147S |
probably benign |
Het |
Fryl |
A |
C |
5: 73,257,843 (GRCm39) |
|
probably null |
Het |
Galnt13 |
A |
C |
2: 54,770,122 (GRCm39) |
I305L |
probably benign |
Het |
Guca2a |
A |
G |
4: 119,494,951 (GRCm39) |
N2D |
unknown |
Het |
Iqcd |
C |
T |
5: 120,740,514 (GRCm39) |
R282W |
probably damaging |
Het |
Lamc1 |
A |
C |
1: 153,126,268 (GRCm39) |
C475G |
probably damaging |
Het |
Map3k5 |
AAAAGAAAAAGA |
AA |
10: 19,986,612 (GRCm39) |
|
probably null |
Het |
Med13 |
A |
T |
11: 86,194,375 (GRCm39) |
D789E |
probably damaging |
Het |
Mn1 |
A |
G |
5: 111,569,651 (GRCm39) |
Y1207C |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,967,892 (GRCm39) |
D977G |
possibly damaging |
Het |
Mrpl53 |
A |
T |
6: 83,086,169 (GRCm39) |
N26I |
probably damaging |
Het |
Nell1 |
A |
T |
7: 49,869,760 (GRCm39) |
|
probably null |
Het |
Ogdh |
T |
G |
11: 6,299,329 (GRCm39) |
F743V |
probably benign |
Het |
Or4d10b |
A |
T |
19: 12,036,222 (GRCm39) |
M298K |
possibly damaging |
Het |
Or4n4 |
C |
T |
14: 50,519,036 (GRCm39) |
V225I |
probably benign |
Het |
Or6c3 |
A |
G |
10: 129,308,953 (GRCm39) |
T131A |
probably benign |
Het |
Plscr1l1 |
T |
A |
9: 92,233,061 (GRCm39) |
F61L |
probably benign |
Het |
Pmvk |
A |
G |
3: 89,375,899 (GRCm39) |
E174G |
probably benign |
Het |
Pou6f2 |
T |
C |
13: 18,414,158 (GRCm39) |
N206D |
|
Het |
Prelid3a |
A |
T |
18: 67,606,018 (GRCm39) |
S42C |
probably benign |
Het |
Riok1 |
T |
A |
13: 38,236,296 (GRCm39) |
H347Q |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,789,650 (GRCm39) |
L1488P |
probably damaging |
Het |
Shkbp1 |
A |
G |
7: 27,052,109 (GRCm39) |
V158A |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,360,076 (GRCm39) |
I43M |
possibly damaging |
Het |
Smarca2 |
A |
G |
19: 26,654,080 (GRCm39) |
N755S |
possibly damaging |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tfb2m |
G |
A |
1: 179,373,668 (GRCm39) |
P10L |
probably benign |
Het |
Trim30c |
T |
C |
7: 104,032,703 (GRCm39) |
M252V |
probably benign |
Het |
Ttll1 |
A |
G |
15: 83,384,279 (GRCm39) |
L116P |
probably damaging |
Het |
Tubd1 |
C |
T |
11: 86,440,248 (GRCm39) |
H91Y |
possibly damaging |
Het |
Vgll4 |
A |
G |
6: 114,839,786 (GRCm39) |
S175P |
probably damaging |
Het |
Vmn1r79 |
A |
G |
7: 11,910,415 (GRCm39) |
Y99C |
possibly damaging |
Het |
Vmn2r80 |
C |
T |
10: 79,030,150 (GRCm39) |
Q659* |
probably null |
Het |
Zfp382 |
A |
G |
7: 29,833,840 (GRCm39) |
D497G |
possibly damaging |
Het |
Zfp41 |
A |
G |
15: 75,490,384 (GRCm39) |
E112G |
probably damaging |
Het |
Zfyve26 |
A |
G |
12: 79,307,605 (GRCm39) |
S1754P |
probably damaging |
Het |
|
Other mutations in Flvcr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00555:Flvcr2
|
APN |
12 |
85,794,097 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01461:Flvcr2
|
APN |
12 |
85,849,905 (GRCm39) |
splice site |
probably benign |
|
IGL02191:Flvcr2
|
APN |
12 |
85,832,966 (GRCm39) |
nonsense |
probably null |
|
IGL02643:Flvcr2
|
APN |
12 |
85,842,997 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02933:Flvcr2
|
APN |
12 |
85,849,902 (GRCm39) |
splice site |
probably benign |
|
pulga
|
UTSW |
12 |
85,793,965 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1792:Flvcr2
|
UTSW |
12 |
85,793,929 (GRCm39) |
nonsense |
probably null |
|
R1840:Flvcr2
|
UTSW |
12 |
85,849,995 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2402:Flvcr2
|
UTSW |
12 |
85,829,777 (GRCm39) |
missense |
probably benign |
0.12 |
R4120:Flvcr2
|
UTSW |
12 |
85,832,903 (GRCm39) |
missense |
probably benign |
0.31 |
R4900:Flvcr2
|
UTSW |
12 |
85,829,756 (GRCm39) |
missense |
probably damaging |
0.98 |
R5417:Flvcr2
|
UTSW |
12 |
85,793,965 (GRCm39) |
missense |
probably damaging |
0.97 |
R5559:Flvcr2
|
UTSW |
12 |
85,851,181 (GRCm39) |
missense |
probably benign |
0.21 |
R5639:Flvcr2
|
UTSW |
12 |
85,794,250 (GRCm39) |
missense |
probably benign |
0.03 |
R5891:Flvcr2
|
UTSW |
12 |
85,843,002 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6347:Flvcr2
|
UTSW |
12 |
85,794,194 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6349:Flvcr2
|
UTSW |
12 |
85,793,974 (GRCm39) |
missense |
probably benign |
0.30 |
R7082:Flvcr2
|
UTSW |
12 |
85,793,728 (GRCm39) |
missense |
probably benign |
0.03 |
R7179:Flvcr2
|
UTSW |
12 |
85,793,965 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7241:Flvcr2
|
UTSW |
12 |
85,852,013 (GRCm39) |
missense |
probably benign |
|
R7459:Flvcr2
|
UTSW |
12 |
85,793,831 (GRCm39) |
missense |
probably benign |
0.14 |
R8030:Flvcr2
|
UTSW |
12 |
85,845,312 (GRCm39) |
missense |
probably damaging |
0.97 |
R8200:Flvcr2
|
UTSW |
12 |
85,849,922 (GRCm39) |
frame shift |
probably null |
|
R8203:Flvcr2
|
UTSW |
12 |
85,849,922 (GRCm39) |
frame shift |
probably null |
|
R8204:Flvcr2
|
UTSW |
12 |
85,849,922 (GRCm39) |
frame shift |
probably null |
|
R8206:Flvcr2
|
UTSW |
12 |
85,849,922 (GRCm39) |
frame shift |
probably null |
|
R8208:Flvcr2
|
UTSW |
12 |
85,849,922 (GRCm39) |
frame shift |
probably null |
|
R8217:Flvcr2
|
UTSW |
12 |
85,849,922 (GRCm39) |
frame shift |
probably null |
|
R8218:Flvcr2
|
UTSW |
12 |
85,849,922 (GRCm39) |
frame shift |
probably null |
|
R8384:Flvcr2
|
UTSW |
12 |
85,842,967 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9015:Flvcr2
|
UTSW |
12 |
85,829,779 (GRCm39) |
missense |
probably benign |
0.21 |
R9372:Flvcr2
|
UTSW |
12 |
85,793,795 (GRCm39) |
missense |
probably benign |
0.10 |
R9379:Flvcr2
|
UTSW |
12 |
85,850,000 (GRCm39) |
missense |
probably benign |
0.00 |
R9516:Flvcr2
|
UTSW |
12 |
85,793,954 (GRCm39) |
missense |
possibly damaging |
0.70 |
RF013:Flvcr2
|
UTSW |
12 |
85,793,960 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTTCCTCACCTATATGGAGAC -3'
(R):5'- TTTTCACATCTCCTGAGGCCAG -3'
Sequencing Primer
(F):5'- GACACTTCTATGAAGACAGATGTGCC -3'
(R):5'- GGGACTTGCATTGCCTCCTAG -3'
|
Posted On |
2020-07-13 |