Incidental Mutation 'R0015:Slc20a2'
| ID |
8298 |
| 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 |
| MMRRC Submission |
038310-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R0015 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
22966804-23059628 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 23025361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 21
(A21E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067786]
[ENSMUST00000209305]
[ENSMUST00000210854]
|
| AlphaFold |
Q80UP8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067786
AA Change: A21E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656
AA Change: A21E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:PHO4
|
24 |
638 |
1.6e-160 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209305
AA Change: A21E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210854
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 80.5%
- 3x: 72.2%
- 10x: 49.0%
- 20x: 28.4%
|
| Validation Efficiency |
90% (88/98) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130050O07Rik |
A |
G |
1: 137,856,394 (GRCm39) |
Y23C |
unknown |
Het |
| Aadat |
C |
T |
8: 60,987,605 (GRCm39) |
|
probably benign |
Het |
| Adcy3 |
G |
A |
12: 4,245,260 (GRCm39) |
|
probably null |
Het |
| Armc3 |
A |
G |
2: 19,301,132 (GRCm39) |
|
probably null |
Het |
| Astn2 |
T |
G |
4: 66,184,619 (GRCm39) |
|
probably null |
Het |
| Borcs8 |
T |
C |
8: 70,593,017 (GRCm39) |
|
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,836,928 (GRCm39) |
T804I |
probably benign |
Het |
| Card19 |
A |
G |
13: 49,361,532 (GRCm39) |
L33P |
probably benign |
Het |
| Ccny |
A |
C |
18: 9,316,682 (GRCm39) |
|
probably benign |
Het |
| Cdh5 |
C |
T |
8: 104,867,559 (GRCm39) |
T612I |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 48,017,539 (GRCm39) |
M800V |
probably benign |
Het |
| Clrn1 |
A |
T |
3: 58,753,848 (GRCm39) |
I171K |
probably damaging |
Het |
| Cnp |
T |
A |
11: 100,469,734 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
T |
C |
9: 79,558,667 (GRCm39) |
T1933A |
probably damaging |
Het |
| Cplane1 |
G |
A |
15: 8,215,668 (GRCm39) |
R408H |
probably damaging |
Het |
| Cwf19l2 |
A |
G |
9: 3,454,666 (GRCm39) |
S660G |
probably benign |
Het |
| Dync1i2 |
C |
A |
2: 71,044,828 (GRCm39) |
R13S |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,036,652 (GRCm39) |
S3435T |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,096,012 (GRCm39) |
C533R |
probably benign |
Het |
| Fstl5 |
G |
A |
3: 76,229,498 (GRCm39) |
V100M |
probably damaging |
Het |
| Gria2 |
C |
T |
3: 80,615,074 (GRCm39) |
G469S |
probably damaging |
Het |
| Hsf5 |
C |
A |
11: 87,548,161 (GRCm39) |
H615N |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,140,113 (GRCm39) |
T240A |
probably damaging |
Het |
| Kcnn3 |
A |
C |
3: 89,570,080 (GRCm39) |
D631A |
probably damaging |
Het |
| Lama4 |
C |
T |
10: 38,951,432 (GRCm39) |
T1059M |
possibly damaging |
Het |
| Lgals8 |
A |
G |
13: 12,462,179 (GRCm39) |
L226P |
probably damaging |
Het |
| Lonp1 |
T |
A |
17: 56,925,406 (GRCm39) |
Q462L |
probably benign |
Het |
| Mark2 |
A |
T |
19: 7,263,142 (GRCm39) |
Y231* |
probably null |
Het |
| Mdh1b |
T |
C |
1: 63,760,959 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,464,206 (GRCm39) |
P569L |
probably damaging |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Ncapd3 |
C |
A |
9: 26,963,105 (GRCm39) |
A470E |
probably damaging |
Het |
| Ndrg2 |
A |
G |
14: 52,147,902 (GRCm39) |
|
probably benign |
Het |
| Nprl2 |
A |
T |
9: 107,421,618 (GRCm39) |
I209F |
probably damaging |
Het |
| Pcf11 |
T |
A |
7: 92,307,525 (GRCm39) |
H881L |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,196,029 (GRCm39) |
D640G |
probably damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,705,547 (GRCm39) |
|
probably benign |
Het |
| Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
| Pter |
G |
A |
2: 13,005,811 (GRCm39) |
G328D |
probably damaging |
Het |
| Rad51 |
T |
A |
2: 118,946,808 (GRCm39) |
M5K |
probably benign |
Het |
| Rbm43 |
T |
A |
2: 51,815,679 (GRCm39) |
I181F |
probably benign |
Het |
| Rgs12 |
T |
C |
5: 35,180,120 (GRCm39) |
|
probably benign |
Het |
| Sybu |
T |
C |
15: 44,536,896 (GRCm39) |
R349G |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,533 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
C |
A |
2: 67,341,243 (GRCm39) |
Y1161* |
probably null |
Het |
| Zfand4 |
C |
A |
6: 116,305,258 (GRCm39) |
T705K |
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 |
|
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 |
2012-11-21 |
Incidental Mutation