Incidental Mutation 'IGL03248:Slc20a2'
| ID |
414479 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc20a2
|
| Ensembl Gene |
ENSMUSG00000037656 |
| Gene Name |
solute carrier family 20, member 2 |
| Synonyms |
Pit-2, PiT-2, MolPit2, Ram1, Ram-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
IGL03248
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
22966804-23059628 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23048999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 219
(S219T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067786]
|
| AlphaFold |
Q80UP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067786
AA Change: S219T
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656
AA Change: S219T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:PHO4
|
24 |
638 |
1.6e-160 |
PFAM |
|
| Coding Region Coverage |
|
| 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 inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit brain calcifications in the thalamus, basal ganglia and cerebral cortex, microgliosis, and a high inorganic phosphate concentration [Pi] in cerebrospinal fluid. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd5 |
T |
C |
9: 122,197,290 (GRCm39) |
F116S |
probably damaging |
Het |
| Accsl |
A |
G |
2: 93,693,129 (GRCm39) |
|
probably benign |
Het |
| Adgrl2 |
T |
A |
3: 148,523,036 (GRCm39) |
E165V |
probably damaging |
Het |
| Alb |
T |
C |
5: 90,609,573 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 14,978,847 (GRCm39) |
V38A |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,664,530 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,159,235 (GRCm39) |
R154H |
probably damaging |
Het |
| Cep120 |
A |
G |
18: 53,868,844 (GRCm39) |
Y112H |
probably benign |
Het |
| Chrna5 |
C |
T |
9: 54,911,923 (GRCm39) |
T241I |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,530,206 (GRCm39) |
S1215G |
probably benign |
Het |
| Ddx21 |
C |
T |
10: 62,427,769 (GRCm39) |
R378Q |
possibly damaging |
Het |
| Dnah1 |
A |
T |
14: 30,991,846 (GRCm39) |
L3052Q |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,861,016 (GRCm39) |
T445K |
probably benign |
Het |
| Ercc4 |
T |
C |
16: 12,945,457 (GRCm39) |
W291R |
probably damaging |
Het |
| Flvcr1 |
A |
G |
1: 190,757,939 (GRCm39) |
W76R |
probably damaging |
Het |
| Frmd3 |
A |
G |
4: 74,046,455 (GRCm39) |
I132V |
possibly damaging |
Het |
| Gnb4 |
T |
C |
3: 32,639,324 (GRCm39) |
D323G |
probably damaging |
Het |
| Hnrnpc |
G |
A |
14: 52,312,896 (GRCm39) |
|
probably benign |
Het |
| Hnrnpl |
T |
C |
7: 28,513,505 (GRCm39) |
S202P |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,321,921 (GRCm39) |
F4524L |
probably damaging |
Het |
| Iars2 |
A |
G |
1: 185,023,629 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
A |
G |
1: 63,107,341 (GRCm39) |
|
probably null |
Het |
| Itga8 |
C |
A |
2: 12,137,327 (GRCm39) |
A13S |
probably benign |
Het |
| Man2a1 |
T |
C |
17: 65,020,606 (GRCm39) |
F794S |
probably damaging |
Het |
| Mpp7 |
T |
C |
18: 7,403,269 (GRCm39) |
D347G |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,032,716 (GRCm39) |
L411P |
probably damaging |
Het |
| Or51f23 |
C |
T |
7: 102,452,846 (GRCm39) |
Q54* |
probably null |
Het |
| Plin1 |
C |
T |
7: 79,372,382 (GRCm39) |
V86I |
probably damaging |
Het |
| Rgs6 |
A |
G |
12: 83,099,324 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
C |
T |
5: 93,100,399 (GRCm39) |
P1473S |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,371,397 (GRCm39) |
I178V |
probably damaging |
Het |
| Tasor |
C |
T |
14: 27,198,649 (GRCm39) |
T1327I |
probably damaging |
Het |
| Tfeb |
T |
C |
17: 48,097,920 (GRCm39) |
M36T |
probably benign |
Het |
| Trim33 |
G |
A |
3: 103,218,289 (GRCm39) |
|
probably benign |
Het |
| Trnau1ap |
A |
G |
4: 132,049,114 (GRCm39) |
Y30H |
probably damaging |
Het |
| Tulp1 |
T |
C |
17: 28,578,298 (GRCm39) |
K276E |
possibly damaging |
Het |
| Uvssa |
T |
A |
5: 33,549,160 (GRCm39) |
I340N |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,529,897 (GRCm39) |
N293I |
possibly damaging |
Het |
| Xpc |
T |
C |
6: 91,481,565 (GRCm39) |
N250S |
probably damaging |
Het |
| Ybey |
T |
C |
10: 76,304,161 (GRCm39) |
I14V |
probably benign |
Het |
| Zfhx3 |
T |
C |
8: 109,673,182 (GRCm39) |
Y1411H |
probably damaging |
Het |
|
| Other mutations in Slc20a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01474:Slc20a2
|
APN |
8 |
23,025,573 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
PIT4453001:Slc20a2
|
UTSW |
8 |
23,025,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Slc20a2
|
UTSW |
8 |
23,025,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Slc20a2
|
UTSW |
8 |
23,025,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Slc20a2
|
UTSW |
8 |
23,058,409 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1679:Slc20a2
|
UTSW |
8 |
23,028,846 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1737:Slc20a2
|
UTSW |
8 |
23,035,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Slc20a2
|
UTSW |
8 |
23,035,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2217:Slc20a2
|
UTSW |
8 |
23,050,532 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3821:Slc20a2
|
UTSW |
8 |
23,028,918 (GRCm39) |
missense |
probably benign |
|
|
R3878:Slc20a2
|
UTSW |
8 |
23,058,399 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4284:Slc20a2
|
UTSW |
8 |
23,051,365 (GRCm39) |
missense |
probably benign |
|
|
R4285:Slc20a2
|
UTSW |
8 |
23,051,365 (GRCm39) |
missense |
probably benign |
|
|
R4915:Slc20a2
|
UTSW |
8 |
23,051,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Slc20a2
|
UTSW |
8 |
23,051,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Slc20a2
|
UTSW |
8 |
23,051,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4938:Slc20a2
|
UTSW |
8 |
23,051,221 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6374:Slc20a2
|
UTSW |
8 |
23,055,668 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6894:Slc20a2
|
UTSW |
8 |
23,050,609 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7369:Slc20a2
|
UTSW |
8 |
23,051,416 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7756:Slc20a2
|
UTSW |
8 |
23,025,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7889:Slc20a2
|
UTSW |
8 |
23,030,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Slc20a2
|
UTSW |
8 |
23,030,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9110:Slc20a2
|
UTSW |
8 |
23,025,457 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9145:Slc20a2
|
UTSW |
8 |
23,030,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9433:Slc20a2
|
UTSW |
8 |
23,051,211 (GRCm39) |
nonsense |
probably null |
|
|
R9649:Slc20a2
|
UTSW |
8 |
23,028,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9778:Slc20a2
|
UTSW |
8 |
23,051,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation