Incidental Mutation 'R8204:Flvcr2'
| ID |
635829 |
| 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 |
067627-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.899)
|
| Stock # |
R8204 (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: 99.9%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,057,606 (GRCm39) |
R731H |
probably benign |
Het |
| Arpp21 |
T |
A |
9: 111,965,638 (GRCm39) |
Y408F |
noncoding transcript |
Het |
| Atr |
T |
C |
9: 95,817,566 (GRCm39) |
S2086P |
|
Het |
| BC034090 |
C |
A |
1: 155,117,488 (GRCm39) |
G210V |
probably damaging |
Het |
| Cdk6 |
A |
G |
5: 3,394,461 (GRCm39) |
D32G |
probably damaging |
Het |
| Cep126 |
C |
T |
9: 8,120,781 (GRCm39) |
E81K |
probably damaging |
Het |
| Cep20 |
T |
C |
16: 14,118,070 (GRCm39) |
D150G |
probably benign |
Het |
| Clec4d |
T |
A |
6: 123,242,323 (GRCm39) |
V25D |
probably damaging |
Het |
| Cox8a |
A |
G |
19: 7,192,845 (GRCm39) |
I40T |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,210,320 (GRCm39) |
L792P |
probably damaging |
Het |
| Egln3 |
T |
C |
12: 54,250,010 (GRCm39) |
Y113C |
probably benign |
Het |
| Exoc6b |
C |
T |
6: 84,832,504 (GRCm39) |
V397M |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,175,436 (GRCm39) |
L1759Q |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,110,074 (GRCm39) |
S701T |
unknown |
Het |
| Git1 |
G |
A |
11: 77,396,161 (GRCm39) |
D551N |
probably benign |
Het |
| Gpr137 |
C |
T |
19: 6,917,746 (GRCm39) |
A21T |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,105,225 (GRCm39) |
F171L |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,132,523 (GRCm39) |
F175S |
probably damaging |
Het |
| Hoxc13 |
A |
G |
15: 102,835,795 (GRCm39) |
N308D |
probably damaging |
Het |
| Itga9 |
A |
G |
9: 118,700,989 (GRCm39) |
N924S |
probably damaging |
Het |
| Katnip |
C |
T |
7: 125,449,914 (GRCm39) |
R993C |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,934,414 (GRCm39) |
M202V |
probably benign |
Het |
| Krtap19-9a |
C |
T |
16: 88,720,996 (GRCm39) |
G37D |
noncoding transcript |
Het |
| Lancl2 |
C |
A |
6: 57,714,701 (GRCm39) |
P440Q |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,222,710 (GRCm39) |
I608T |
possibly damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,294,369 (GRCm39) |
E254V |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,958,502 (GRCm39) |
C528S |
probably benign |
Het |
| Mast3 |
T |
C |
8: 71,240,925 (GRCm39) |
D224G |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myrip |
G |
A |
9: 120,262,045 (GRCm39) |
|
probably null |
Het |
| Or4f54 |
A |
G |
2: 111,123,485 (GRCm39) |
R291G |
probably damaging |
Het |
| Or5af2 |
A |
C |
11: 58,707,885 (GRCm39) |
D17A |
probably benign |
Het |
| Plekhg6 |
C |
T |
6: 125,340,461 (GRCm39) |
R633H |
probably damaging |
Het |
| Ppp1r7 |
T |
C |
1: 93,292,733 (GRCm39) |
V344A |
possibly damaging |
Het |
| Ppp2r1a |
A |
G |
17: 21,177,035 (GRCm39) |
E191G |
probably benign |
Het |
| Prkag2 |
T |
C |
5: 25,074,125 (GRCm39) |
|
probably null |
Het |
| Pyroxd2 |
A |
T |
19: 42,737,827 (GRCm39) |
V48E |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,450,397 (GRCm39) |
S4148P |
probably damaging |
Het |
| Sh3tc2 |
T |
C |
18: 62,086,200 (GRCm39) |
F5S |
probably damaging |
Het |
| Skint8 |
T |
C |
4: 111,796,090 (GRCm39) |
S255P |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,226,159 (GRCm39) |
Q948L |
probably damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,707,618 (GRCm39) |
L1046Q |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tfcp2 |
G |
T |
15: 100,420,329 (GRCm39) |
Q169K |
possibly damaging |
Het |
| Tpp1 |
A |
T |
7: 105,399,522 (GRCm39) |
L82Q |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,931,609 (GRCm39) |
S697P |
probably benign |
Het |
| Vmn1r55 |
A |
T |
7: 5,150,285 (GRCm39) |
I46N |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,000,451 (GRCm39) |
V2973A |
probably benign |
Het |
| Xrcc1 |
T |
C |
7: 24,271,709 (GRCm39) |
V564A |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTTCCTCACCTATATGGAGACAC -3'
(R):5'- TTTCACATCTCCTGAGGCCAG -3'
Sequencing Primer
(F):5'- CTTCTATGAAGACAGATGTGCCAGC -3'
(R):5'- GGGACTTGCATTGCCTCCTAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation