Incidental Mutation 'R5417:Flvcr2'
| ID |
427799 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
85793313-85860359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 85793965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 114
(F114V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040461]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040461
AA Change: F114V
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: F114V
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
A |
G |
15: 76,619,301 (GRCm39) |
V761A |
possibly damaging |
Het |
| Ccdc47 |
C |
T |
11: 106,101,176 (GRCm39) |
R162Q |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,964,259 (GRCm39) |
E563G |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Col17a1 |
C |
A |
19: 47,650,829 (GRCm39) |
G732C |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,233,579 (GRCm39) |
I812V |
probably null |
Het |
| Dennd1c |
CCGCCCCTCGCTGACAGC |
CC |
17: 57,373,755 (GRCm39) |
|
probably null |
Het |
| Dgkg |
A |
T |
16: 22,407,081 (GRCm39) |
M168K |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dolpp1 |
T |
C |
2: 30,286,249 (GRCm39) |
L18P |
probably damaging |
Het |
| Eif3e |
A |
T |
15: 43,128,917 (GRCm39) |
D234E |
probably benign |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Fbxw10 |
G |
A |
11: 62,767,990 (GRCm39) |
R942Q |
possibly damaging |
Het |
| Gm14443 |
A |
T |
2: 175,011,796 (GRCm39) |
C217S |
probably damaging |
Het |
| Gphb5 |
A |
T |
12: 75,459,746 (GRCm39) |
V83E |
possibly damaging |
Het |
| Gpsm1 |
T |
C |
2: 26,214,045 (GRCm39) |
|
probably null |
Het |
| Grik4 |
A |
G |
9: 42,582,544 (GRCm39) |
F134S |
probably benign |
Het |
| Ibsp |
G |
A |
5: 104,458,335 (GRCm39) |
E291K |
possibly damaging |
Het |
| Igfals |
T |
G |
17: 25,099,290 (GRCm39) |
L127R |
probably damaging |
Het |
| Igsf9b |
CGGCCCCGGCCCAG |
CGGCCCCGGCCCAGGCCCCGGCCCAG |
9: 27,245,572 (GRCm39) |
|
probably benign |
Het |
| Iqcf3 |
T |
A |
9: 106,431,413 (GRCm39) |
D63V |
probably damaging |
Het |
| Klc4 |
A |
G |
17: 46,942,957 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mapk8ip2 |
C |
A |
15: 89,341,642 (GRCm39) |
D284E |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,781 (GRCm39) |
T1576S |
unknown |
Het |
| Nlrp3 |
G |
A |
11: 59,439,889 (GRCm39) |
G489S |
probably damaging |
Het |
| Nr5a1 |
T |
A |
2: 38,598,098 (GRCm39) |
Q233L |
possibly damaging |
Het |
| Nusap1 |
G |
A |
2: 119,477,624 (GRCm39) |
V345I |
probably damaging |
Het |
| Or10q1 |
A |
G |
19: 13,727,217 (GRCm39) |
H249R |
probably benign |
Het |
| Or4k51 |
A |
G |
2: 111,585,265 (GRCm39) |
T224A |
possibly damaging |
Het |
| Or51aa2 |
A |
T |
7: 103,187,970 (GRCm39) |
V157E |
possibly damaging |
Het |
| Oxr1 |
A |
G |
15: 41,683,767 (GRCm39) |
T378A |
probably benign |
Het |
| Pcdhb12 |
T |
C |
18: 37,569,087 (GRCm39) |
F78L |
probably benign |
Het |
| Pgm2l1 |
A |
T |
7: 99,921,583 (GRCm39) |
I605L |
probably benign |
Het |
| Pik3c2g |
A |
G |
6: 139,682,669 (GRCm39) |
I17V |
probably benign |
Het |
| Prss39 |
A |
G |
1: 34,539,209 (GRCm39) |
S150G |
probably benign |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scg3 |
T |
A |
9: 75,576,538 (GRCm39) |
Y279F |
probably benign |
Het |
| Skic2 |
C |
T |
17: 35,065,574 (GRCm39) |
V327I |
probably damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,621,697 (GRCm39) |
C253R |
probably benign |
Het |
| Tcirg1 |
C |
T |
19: 3,953,509 (GRCm39) |
|
probably null |
Het |
| Trim37 |
A |
G |
11: 87,057,505 (GRCm39) |
Y313C |
probably damaging |
Het |
| Ttll9 |
A |
T |
2: 152,844,912 (GRCm39) |
M427L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,475,409 (GRCm39) |
R932G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTCCAGATGGACACCAGC -3'
(R):5'- ATTTCTCCAGCATCCAGGCC -3'
Sequencing Primer
(F):5'- ATCCATCCCAGCGTCTCAGG -3'
(R):5'- AGCATCCAGGCCACGGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation