Incidental Mutation 'R3878:Slc20a2'
| ID |
276948 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3878 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
22966804-23059628 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23058399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 645
(L645P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067786]
|
| AlphaFold |
Q80UP8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067786
AA Change: L645P
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656
AA Change: L645P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:PHO4
|
24 |
638 |
1.6e-160 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020A23Rik |
C |
T |
2: 130,247,560 (GRCm39) |
T32M |
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,531,324 (GRCm39) |
S915G |
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,025,642 (GRCm39) |
|
probably null |
Het |
| Atosb |
T |
G |
4: 43,035,867 (GRCm39) |
H288P |
probably damaging |
Het |
| Cadm2 |
C |
T |
16: 66,612,329 (GRCm39) |
E78K |
probably damaging |
Het |
| Ceacam5 |
C |
T |
7: 17,484,506 (GRCm39) |
P416L |
probably damaging |
Het |
| Chsy3 |
T |
C |
18: 59,542,845 (GRCm39) |
F661S |
probably damaging |
Het |
| Clstn3 |
G |
A |
6: 124,434,901 (GRCm39) |
T338I |
probably damaging |
Het |
| Ctif |
A |
G |
18: 75,653,048 (GRCm39) |
I403T |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,620,423 (GRCm39) |
R237G |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,148,150 (GRCm39) |
|
probably null |
Het |
| Frs2 |
A |
C |
10: 116,914,815 (GRCm39) |
S35A |
probably benign |
Het |
| Gpr155 |
C |
T |
2: 73,198,736 (GRCm39) |
W394* |
probably null |
Het |
| Ift140 |
G |
A |
17: 25,247,918 (GRCm39) |
V259M |
probably benign |
Het |
| Igkv9-124 |
A |
T |
6: 67,919,191 (GRCm39) |
S74T |
probably benign |
Het |
| Krt14 |
C |
T |
11: 100,097,915 (GRCm39) |
V123M |
possibly damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,398,063 (GRCm39) |
T457A |
possibly damaging |
Het |
| Nlrp4g |
A |
G |
9: 124,349,362 (GRCm38) |
|
noncoding transcript |
Het |
| Nsa2 |
C |
G |
13: 97,268,542 (GRCm39) |
G175A |
probably benign |
Het |
| Or8k40 |
T |
C |
2: 86,584,972 (GRCm39) |
T37A |
probably benign |
Het |
| Pax1 |
A |
T |
2: 147,204,228 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,376,262 (GRCm39) |
E1291G |
probably benign |
Het |
| Relb |
G |
A |
7: 19,351,769 (GRCm39) |
H115Y |
probably damaging |
Het |
| Rnase10 |
A |
G |
14: 51,246,889 (GRCm39) |
E52G |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Slc14a2 |
C |
T |
18: 78,202,289 (GRCm39) |
V614I |
probably benign |
Het |
| Smoc2 |
A |
G |
17: 14,545,879 (GRCm39) |
D56G |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,247,782 (GRCm39) |
S789P |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 36,030,401 (GRCm39) |
|
probably null |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,152 (GRCm39) |
V169A |
probably damaging |
Het |
| Trbv13-1 |
C |
T |
6: 41,093,322 (GRCm39) |
T86I |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,941,708 (GRCm39) |
D886G |
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,259,321 (GRCm39) |
I1003M |
probably damaging |
Het |
| Trim37 |
T |
C |
11: 87,096,828 (GRCm39) |
V777A |
probably benign |
Het |
| Ttc7 |
A |
C |
17: 87,678,166 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,596,364 (GRCm39) |
D11856G |
possibly damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,260 (GRCm39) |
D164V |
possibly damaging |
Het |
| Vmn1r34 |
G |
A |
6: 66,614,552 (GRCm39) |
T62I |
possibly damaging |
Het |
| Wapl |
T |
C |
14: 34,414,104 (GRCm39) |
L322P |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,105,960 (GRCm39) |
D17G |
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 |
|
IGL03248:Slc20a2
|
APN |
8 |
23,048,999 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTCGGTGTTTGTGAAAGTC -3'
(R):5'- TCTGGAAGATGAGCTGTGGC -3'
Sequencing Primer
(F):5'- GCGTCGTCCTTTAAAGTAGACC -3'
(R):5'- CTGTGGCCTGGGTAAGCAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation