Incidental Mutation 'R1679:Slc20a2'
| ID |
188351 |
| 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 |
039715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R1679 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
22966804-23059628 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 23028846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 106
(S106A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067786]
[ENSMUST00000209305]
[ENSMUST00000210854]
|
| AlphaFold |
Q80UP8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067786
AA Change: S106A
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656
AA Change: S106A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:PHO4
|
24 |
638 |
1.6e-160 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209305
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209347
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210388
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210854
|
| Meta Mutation Damage Score |
0.5544 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
GCC |
GC |
13: 59,839,412 (GRCm39) |
|
probably null |
Het |
| Adam6a |
A |
G |
12: 113,508,376 (GRCm39) |
M250V |
probably benign |
Het |
| Adgre5 |
C |
A |
8: 84,456,034 (GRCm39) |
R254L |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,707,671 (GRCm39) |
L525Q |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,688,210 (GRCm39) |
I205F |
probably benign |
Het |
| Bmp5 |
T |
C |
9: 75,746,877 (GRCm39) |
V245A |
probably benign |
Het |
| Capn8 |
T |
C |
1: 182,441,032 (GRCm39) |
S489P |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,533,316 (GRCm39) |
L76P |
probably damaging |
Het |
| Cd164l2 |
A |
G |
4: 132,948,810 (GRCm39) |
T49A |
probably benign |
Het |
| Cdc25c |
T |
C |
18: 34,880,348 (GRCm39) |
T129A |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,761,553 (GRCm39) |
D847G |
probably benign |
Het |
| Crim1 |
G |
A |
17: 78,508,228 (GRCm39) |
A11T |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,832,082 (GRCm39) |
L1449H |
possibly damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,635,736 (GRCm39) |
K276* |
probably null |
Het |
| Cyp2c50 |
C |
A |
19: 40,099,859 (GRCm39) |
T430K |
possibly damaging |
Het |
| Ddb2 |
C |
T |
2: 91,064,595 (GRCm39) |
R105Q |
probably benign |
Het |
| Emilin1 |
T |
C |
5: 31,077,543 (GRCm39) |
Y900H |
probably benign |
Het |
| Eml3 |
T |
C |
19: 8,914,001 (GRCm39) |
F100L |
probably damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,940,970 (GRCm39) |
G542D |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,041,843 (GRCm39) |
|
probably null |
Het |
| Gm21886 |
T |
C |
18: 80,132,954 (GRCm39) |
Y68C |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,784,492 (GRCm39) |
|
probably benign |
Het |
| Hebp2 |
G |
T |
10: 18,420,163 (GRCm39) |
T90K |
possibly damaging |
Het |
| Il1rl2 |
A |
G |
1: 40,382,320 (GRCm39) |
T211A |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,872,778 (GRCm39) |
D16G |
unknown |
Het |
| Isg20l2 |
T |
A |
3: 87,839,392 (GRCm39) |
M201K |
probably damaging |
Het |
| Kansl1 |
A |
T |
11: 104,314,822 (GRCm39) |
S405R |
probably damaging |
Het |
| Kdsr |
T |
A |
1: 106,680,956 (GRCm39) |
I81F |
probably benign |
Het |
| Leprotl1 |
T |
G |
8: 34,607,986 (GRCm39) |
L7F |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Mtmr2 |
T |
A |
9: 13,700,373 (GRCm39) |
I60K |
probably damaging |
Het |
| Mto1 |
A |
G |
9: 78,372,245 (GRCm39) |
T572A |
probably benign |
Het |
| Nipbl |
G |
A |
15: 8,332,396 (GRCm39) |
T2287I |
probably benign |
Het |
| Nutm2 |
A |
G |
13: 50,623,422 (GRCm39) |
T40A |
probably benign |
Het |
| Nxf1 |
T |
C |
19: 8,746,438 (GRCm39) |
S550P |
probably benign |
Het |
| Or5p4 |
A |
T |
7: 107,680,859 (GRCm39) |
N286I |
probably damaging |
Het |
| Phactr1 |
G |
A |
13: 43,210,756 (GRCm39) |
V193I |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,248,257 (GRCm39) |
Y317F |
possibly damaging |
Het |
| Pih1d1 |
T |
C |
7: 44,809,250 (GRCm39) |
|
probably null |
Het |
| Rictor |
T |
C |
15: 6,797,571 (GRCm39) |
I309T |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ruvbl2 |
T |
C |
7: 45,074,391 (GRCm39) |
D216G |
probably damaging |
Het |
| Srprb |
A |
G |
9: 103,069,406 (GRCm39) |
|
probably benign |
Het |
| Stx11 |
A |
T |
10: 12,817,580 (GRCm39) |
I48N |
probably damaging |
Het |
| Vmn1r29 |
A |
T |
6: 58,285,003 (GRCm39) |
Y241F |
probably damaging |
Het |
| Wdfy1 |
A |
T |
1: 79,685,192 (GRCm39) |
C347* |
probably null |
Het |
| Zfp683 |
T |
C |
4: 133,785,956 (GRCm39) |
V361A |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCATCATTGGCACAGGAGAGC -3'
(R):5'- GTCTAAACCTTACCATCTGGGGCG -3'
Sequencing Primer
(F):5'- AGGAGAGCTGTCACTCACTTTG -3'
(R):5'- GAACTCTTAATAAAACCTCCTCTAGC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation