Incidental Mutation 'IGL01461:Flvcr2'
ID |
87998 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Flvcr2
|
Ensembl Gene |
ENSMUSG00000034258 |
Gene Name |
feline leukemia virus subgroup C cellular receptor 2 |
Synonyms |
CCT, Mfsd7c |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.899)
|
Stock # |
IGL01461
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
85793313-85860359 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 85849905 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 benign
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221585
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,429,214 (GRCm39) |
F767S |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
Apob |
A |
T |
12: 8,051,884 (GRCm39) |
M1137L |
probably benign |
Het |
Brd9 |
C |
T |
13: 74,099,717 (GRCm39) |
Q445* |
probably null |
Het |
Cdh23 |
T |
C |
10: 60,244,926 (GRCm39) |
T990A |
possibly damaging |
Het |
Cenpf |
A |
G |
1: 189,389,293 (GRCm39) |
L1513S |
probably damaging |
Het |
Col27a1 |
A |
G |
4: 63,142,480 (GRCm39) |
K56R |
probably damaging |
Het |
Cryaa |
A |
G |
17: 31,900,000 (GRCm39) |
Y118C |
probably damaging |
Het |
Dtl |
T |
C |
1: 191,278,729 (GRCm39) |
T378A |
possibly damaging |
Het |
E330020D12Rik |
A |
G |
1: 153,284,105 (GRCm39) |
|
noncoding transcript |
Het |
F7 |
A |
G |
8: 13,082,245 (GRCm39) |
D145G |
possibly damaging |
Het |
Hltf |
A |
T |
3: 20,154,103 (GRCm39) |
K680* |
probably null |
Het |
Ing1 |
T |
G |
8: 11,611,453 (GRCm39) |
F22V |
probably benign |
Het |
Ipo5 |
A |
G |
14: 121,165,945 (GRCm39) |
D330G |
probably damaging |
Het |
Itgax |
G |
T |
7: 127,734,190 (GRCm39) |
D321Y |
probably damaging |
Het |
Kel |
A |
C |
6: 41,678,845 (GRCm39) |
|
probably null |
Het |
Marchf10 |
T |
C |
11: 105,280,431 (GRCm39) |
K618R |
probably damaging |
Het |
Mast4 |
T |
A |
13: 102,890,576 (GRCm39) |
M925L |
probably damaging |
Het |
Miga1 |
C |
T |
3: 152,040,934 (GRCm39) |
E78K |
probably damaging |
Het |
Or4c106 |
G |
T |
2: 88,682,669 (GRCm39) |
C125F |
probably damaging |
Het |
Or7e165 |
T |
A |
9: 19,695,245 (GRCm39) |
|
probably null |
Het |
Pkdrej |
T |
C |
15: 85,704,575 (GRCm39) |
I454V |
possibly damaging |
Het |
Poglut2 |
T |
C |
1: 44,150,094 (GRCm39) |
Q365R |
probably damaging |
Het |
Prpf6 |
C |
A |
2: 181,273,304 (GRCm39) |
T283N |
probably benign |
Het |
R3hdm1 |
A |
G |
1: 128,106,643 (GRCm39) |
H197R |
probably damaging |
Het |
Resf1 |
T |
C |
6: 149,233,013 (GRCm39) |
|
probably benign |
Het |
Smpd4 |
A |
C |
16: 17,439,370 (GRCm39) |
Q7P |
probably damaging |
Het |
Vmn2r84 |
A |
T |
10: 130,227,094 (GRCm39) |
I248K |
possibly 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 |
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 |
|
R8207: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 |
|
Posted On |
2013-11-18 |