Incidental Mutation 'R4120:Flvcr2'
| ID |
315293 |
| 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 |
040993-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.899)
|
| Stock # |
R4120 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
85793313-85860359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85832903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 308
(S308P)
|
| 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
AA Change: S308P
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: S308P
| 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
|
| Meta Mutation Damage Score |
0.1368 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
93% (55/59) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
C |
A |
1: 25,133,388 (GRCm39) |
E1233* |
probably null |
Het |
| Afap1l1 |
T |
C |
18: 61,872,243 (GRCm39) |
D526G |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,390,600 (GRCm39) |
Y807H |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Arhgap40 |
A |
G |
2: 158,374,250 (GRCm39) |
M222V |
probably benign |
Het |
| Asnsd1 |
A |
G |
1: 53,387,154 (GRCm39) |
S158P |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,590,162 (GRCm39) |
V365A |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,516,613 (GRCm39) |
M328V |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,256,263 (GRCm39) |
P1535S |
unknown |
Het |
| Dennd2a |
G |
A |
6: 39,442,030 (GRCm39) |
R947C |
probably damaging |
Het |
| Dlg2 |
G |
A |
7: 91,614,846 (GRCm39) |
V217I |
probably damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,812 (GRCm39) |
D83G |
possibly damaging |
Het |
| Dppa5a |
A |
T |
9: 78,275,137 (GRCm39) |
M55K |
possibly damaging |
Het |
| Ect2l |
A |
G |
10: 18,006,466 (GRCm39) |
V779A |
probably benign |
Het |
| Ehhadh |
A |
G |
16: 21,581,934 (GRCm39) |
S353P |
probably benign |
Het |
| Etv3 |
A |
G |
3: 87,443,589 (GRCm39) |
D391G |
probably benign |
Het |
| Fastkd1 |
T |
A |
2: 69,537,654 (GRCm39) |
K309N |
probably damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,748,852 (GRCm39) |
Y375N |
probably damaging |
Het |
| Fyco1 |
T |
C |
9: 123,654,691 (GRCm39) |
Y1065C |
probably benign |
Het |
| Gfra2 |
A |
G |
14: 71,203,715 (GRCm39) |
D31G |
probably damaging |
Het |
| Gm17175 |
A |
T |
14: 51,810,534 (GRCm39) |
I31N |
probably damaging |
Het |
| Gm6003 |
T |
A |
7: 32,864,976 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9951 |
T |
C |
8: 34,522,993 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa2 |
A |
G |
12: 76,452,008 (GRCm39) |
E234G |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Iqsec1 |
A |
T |
6: 90,639,584 (GRCm39) |
Y1065* |
probably null |
Het |
| Ltk |
T |
A |
2: 119,588,429 (GRCm39) |
|
probably benign |
Het |
| Map2 |
G |
A |
1: 66,455,063 (GRCm39) |
A1318T |
probably damaging |
Het |
| Mas1 |
A |
T |
17: 13,061,233 (GRCm39) |
N63K |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,764,318 (GRCm39) |
S1311P |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,739,605 (GRCm39) |
|
probably null |
Het |
| Nlrp1c-ps |
T |
C |
11: 71,133,359 (GRCm39) |
|
noncoding transcript |
Het |
| Oca2 |
A |
T |
7: 55,904,630 (GRCm39) |
D32V |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,320,221 (GRCm39) |
T6A |
probably benign |
Het |
| Or8b9 |
T |
C |
9: 37,766,705 (GRCm39) |
L197S |
possibly damaging |
Het |
| Otub2 |
T |
C |
12: 103,370,489 (GRCm39) |
V257A |
probably damaging |
Het |
| Pink1 |
G |
A |
4: 138,042,822 (GRCm39) |
R461* |
probably null |
Het |
| Plxna2 |
T |
C |
1: 194,462,935 (GRCm39) |
C901R |
probably damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,721,572 (GRCm39) |
N148K |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Ripor1 |
T |
A |
8: 106,345,489 (GRCm39) |
|
probably benign |
Het |
| Sec13 |
T |
C |
6: 113,711,637 (GRCm39) |
N107S |
probably damaging |
Het |
| Slc12a2 |
A |
G |
18: 58,032,427 (GRCm39) |
M376V |
possibly damaging |
Het |
| Sp140l2 |
C |
T |
1: 85,237,542 (GRCm39) |
V81M |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,895,010 (GRCm39) |
D798V |
possibly damaging |
Het |
| Stradb |
T |
A |
1: 59,019,168 (GRCm39) |
Y30N |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,359,798 (GRCm39) |
Q328L |
probably damaging |
Het |
| Ttc23l |
A |
C |
15: 10,540,006 (GRCm39) |
V159G |
probably damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,752,215 (GRCm39) |
S753P |
probably damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,778 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r39 |
G |
A |
7: 9,026,673 (GRCm39) |
H443Y |
probably benign |
Het |
| Zfp936 |
A |
G |
7: 42,839,630 (GRCm39) |
T366A |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,578,119 (GRCm39) |
E256G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATGTTTCCAGCCCTGTAG -3'
(R):5'- AGCTGGTCAGGCACATTTGG -3'
Sequencing Primer
(F):5'- CAGCATTAGAGGTAGTAGCCC -3'
(R):5'- AGGCACATTTGGGACTGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation