Incidental Mutation 'R8208:Flvcr2'
ID |
636020 |
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 |
067631-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.887)
|
Stock # |
R8208 (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: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (47/48) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
G |
A |
6: 58,642,227 (GRCm39) |
V172I |
possibly damaging |
Het |
Agbl1 |
T |
A |
7: 76,369,916 (GRCm39) |
C924S |
unknown |
Het |
Arhgap11a |
T |
C |
2: 113,673,284 (GRCm39) |
S100G |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,763,891 (GRCm39) |
|
probably null |
Het |
Col1a2 |
T |
A |
6: 4,515,260 (GRCm39) |
|
probably null |
Het |
Colec10 |
C |
G |
15: 54,325,696 (GRCm39) |
H175Q |
possibly damaging |
Het |
Cyp46a1 |
A |
T |
12: 108,318,171 (GRCm39) |
|
probably null |
Het |
Dennd4b |
T |
A |
3: 90,178,278 (GRCm39) |
I501N |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,411,678 (GRCm39) |
F315L |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,860 (GRCm39) |
E367G |
probably damaging |
Het |
Folh1 |
A |
T |
7: 86,375,125 (GRCm39) |
H620Q |
probably damaging |
Het |
Galnt10 |
A |
T |
11: 57,536,398 (GRCm39) |
E5V |
possibly damaging |
Het |
Gmcl1 |
A |
G |
6: 86,698,381 (GRCm39) |
V172A |
probably damaging |
Het |
Greb1l |
T |
C |
18: 10,510,703 (GRCm39) |
L599P |
probably damaging |
Het |
Hcn2 |
T |
A |
10: 79,566,778 (GRCm39) |
M485K |
possibly damaging |
Het |
Hirip3 |
G |
T |
7: 126,463,595 (GRCm39) |
C494F |
probably damaging |
Het |
Hsfy2 |
A |
G |
1: 56,676,310 (GRCm39) |
F76L |
probably benign |
Het |
Lamc3 |
A |
G |
2: 31,777,426 (GRCm39) |
H24R |
possibly damaging |
Het |
Laptm4b |
G |
A |
15: 34,277,591 (GRCm39) |
S174N |
probably damaging |
Het |
Lgals8 |
A |
G |
13: 12,468,255 (GRCm39) |
Y125H |
probably damaging |
Het |
Mapk14 |
A |
T |
17: 28,943,807 (GRCm39) |
Y132F |
probably damaging |
Het |
Mxd4 |
A |
T |
5: 34,335,070 (GRCm39) |
I115N |
probably benign |
Het |
Ndufaf1 |
T |
C |
2: 119,490,827 (GRCm39) |
T80A |
probably benign |
Het |
Or10ag53 |
A |
G |
2: 87,083,007 (GRCm39) |
K242R |
probably benign |
Het |
Or11h6 |
T |
C |
14: 50,880,088 (GRCm39) |
F117L |
probably benign |
Het |
Or56a5 |
T |
A |
7: 104,792,625 (GRCm39) |
I298F |
probably damaging |
Het |
Or5k3 |
C |
A |
16: 58,969,382 (GRCm39) |
H56Q |
probably benign |
Het |
Pcf11 |
G |
T |
7: 92,298,731 (GRCm39) |
N1268K |
probably damaging |
Het |
Plcl2 |
T |
C |
17: 50,915,343 (GRCm39) |
V784A |
probably damaging |
Het |
Ptp4a2 |
C |
T |
4: 129,736,485 (GRCm39) |
T40I |
probably benign |
Het |
Rab2b |
C |
T |
14: 52,502,224 (GRCm39) |
A159T |
possibly damaging |
Het |
Sec61a2 |
G |
T |
2: 5,881,809 (GRCm39) |
T207K |
probably benign |
Het |
Serpina5 |
A |
G |
12: 104,071,532 (GRCm39) |
I380V |
probably benign |
Het |
Slc26a2 |
C |
T |
18: 61,331,806 (GRCm39) |
V542M |
probably damaging |
Het |
Snd1 |
C |
T |
6: 28,526,054 (GRCm39) |
P144L |
possibly damaging |
Het |
Spop |
C |
T |
11: 95,382,650 (GRCm39) |
R370C |
probably damaging |
Het |
Sptbn1 |
T |
C |
11: 30,074,972 (GRCm39) |
D1300G |
probably damaging |
Het |
Sptbn5 |
T |
A |
2: 119,878,326 (GRCm39) |
K891* |
noncoding transcript |
Het |
Tnrc6b |
G |
A |
15: 80,742,901 (GRCm39) |
E45K |
possibly damaging |
Het |
Tpst1 |
A |
G |
5: 130,130,751 (GRCm39) |
I74V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,556,192 (GRCm39) |
H30271R |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,606,990 (GRCm39) |
A3962S |
possibly damaging |
Het |
Vmn1r200 |
G |
A |
13: 22,579,470 (GRCm39) |
R91H |
probably damaging |
Het |
Vmn2r22 |
T |
A |
6: 123,614,444 (GRCm39) |
N382I |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,335,322 (GRCm39) |
S113P |
probably damaging |
Het |
Zfp335 |
C |
A |
2: 164,735,536 (GRCm39) |
|
probably null |
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 |
|
R8207: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'- GTGTTCCTCACCTATATGGAGACAC -3'
(R):5'- CATTTTCACATCTCCTGAGGCCAG -3'
Sequencing Primer
(F):5'- CTTCTATGAAGACAGATGTGCCAGC -3'
(R):5'- GGGACTTGCATTGCCTCCTAG -3'
|
Posted On |
2020-07-13 |