Incidental Mutation 'R8384:Flvcr2'
| ID |
647086 |
| 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 |
067750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.899)
|
| Stock # |
R8384 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
85793313-85860359 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85842967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 347
(F347S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040461]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040461
AA Change: F347S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258
AA Change: F347S
| 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: 99.7%
- 20x: 99.0%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
C |
11: 72,057,591 (GRCm39) |
D736G |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Col6a6 |
C |
T |
9: 105,632,893 (GRCm39) |
G1457D |
probably damaging |
Het |
| Colec11 |
A |
T |
12: 28,644,658 (GRCm39) |
*279R |
probably null |
Het |
| Ctnnbl1 |
A |
T |
2: 157,659,980 (GRCm39) |
E278V |
probably benign |
Het |
| Cyp24a1 |
A |
G |
2: 170,328,689 (GRCm39) |
|
probably null |
Het |
| Dpp6 |
A |
T |
5: 27,923,472 (GRCm39) |
Y694F |
probably benign |
Het |
| Eif5 |
A |
G |
12: 111,506,239 (GRCm39) |
E26G |
possibly damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,362,306 (GRCm39) |
I305V |
possibly damaging |
Het |
| Hacl1 |
A |
G |
14: 31,356,154 (GRCm39) |
|
probably null |
Het |
| Hells |
A |
G |
19: 38,947,566 (GRCm39) |
T667A |
probably benign |
Het |
| Idua |
A |
G |
5: 108,829,305 (GRCm39) |
T416A |
possibly damaging |
Het |
| Lfng |
G |
A |
5: 140,598,981 (GRCm39) |
E297K |
probably damaging |
Het |
| Lnx2 |
G |
A |
5: 146,966,138 (GRCm39) |
A327V |
probably benign |
Het |
| Macir |
A |
G |
1: 97,573,655 (GRCm39) |
C137R |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,765,680 (GRCm39) |
V5220A |
probably benign |
Het |
| Mpst |
T |
A |
15: 78,297,775 (GRCm39) |
C264* |
probably null |
Het |
| Msh5 |
A |
G |
17: 35,249,613 (GRCm39) |
L644P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,875,273 (GRCm39) |
Y1533C |
probably damaging |
Het |
| Naa38 |
A |
G |
11: 69,286,752 (GRCm39) |
E12G |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,975,935 (GRCm39) |
C2064F |
probably damaging |
Het |
| Or5p51 |
A |
T |
7: 107,444,465 (GRCm39) |
N158K |
possibly damaging |
Het |
| Or6c6 |
A |
T |
10: 129,186,695 (GRCm39) |
K88* |
probably null |
Het |
| Pam16l |
A |
T |
10: 43,400,347 (GRCm39) |
I34F |
probably damaging |
Het |
| Ralgds |
G |
T |
2: 28,437,182 (GRCm39) |
A534S |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,046,158 (GRCm39) |
|
probably null |
Het |
| Serpinb3c |
T |
C |
1: 107,199,697 (GRCm39) |
T275A |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,823,984 (GRCm39) |
V251A |
probably damaging |
Het |
| Snx14 |
C |
A |
9: 88,285,333 (GRCm39) |
E444* |
probably null |
Het |
| Sspo |
G |
T |
6: 48,459,598 (GRCm39) |
W3319L |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,287,924 (GRCm39) |
V81A |
probably benign |
Het |
| Usp6nl |
A |
G |
2: 6,432,604 (GRCm39) |
I326V |
possibly damaging |
Het |
| Zcchc17 |
T |
C |
4: 130,210,526 (GRCm39) |
K214E |
possibly damaging |
Het |
| Zfp638 |
C |
A |
6: 83,956,747 (GRCm39) |
H1785N |
probably benign |
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 |
|
|
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 |
|
|
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'- CAGAAAGTTGCCTCATACATCC -3'
(R):5'- AAATTGAGACCCAGGGCCATC -3'
Sequencing Primer
(F):5'- ACATCCCTGAATTTTTCTCCTCCGAG -3'
(R):5'- GACCCAGGGCCATCTACCTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation