Incidental Mutation 'IGL03294:Slc34a2'
| ID |
416011 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc34a2
|
| Ensembl Gene |
ENSMUSG00000029188 |
| Gene Name |
solute carrier family 34 (sodium phosphate), member 2 |
| Synonyms |
type IIb Na/Picotransporter, D5Ertd227e, NaPi-2b, Npt2b |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03294
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
53206695-53229006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 53221340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 262
(D262A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
[ENSMUST00000170523]
|
| AlphaFold |
Q9DBP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094787
AA Change: D262A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: D262A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_Pi_cotrans
|
110 |
252 |
2.3e-26 |
PFAM |
|
Pfam:Na_Pi_cotrans
|
374 |
551 |
2.6e-17 |
PFAM |
|
low complexity region
|
553 |
570 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
649 |
655 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147243
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170523
|
| SMART Domains |
Protein: ENSMUSP00000130692
Gene: ENSMUSG00000029188
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_Pi_cotrans
|
110 |
187 |
2.9e-20 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality, embryonic growth arrest, failure of embryo turning and somitogenesis, impaired placental development and impaired yolk sac vascular remodeling. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Targeted, other(2) |
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030498E09Rik |
A |
T |
X: 38,047,315 (GRCm39) |
M119L |
probably benign |
Het |
| Akap10 |
A |
T |
11: 61,768,179 (GRCm39) |
V646D |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,105,548 (GRCm39) |
Y218C |
probably damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,540,660 (GRCm39) |
L174F |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,382,338 (GRCm39) |
K99E |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,531,225 (GRCm39) |
K163E |
probably benign |
Het |
| Birc6 |
C |
T |
17: 74,956,881 (GRCm39) |
A3605V |
probably benign |
Het |
| C8b |
G |
A |
4: 104,637,888 (GRCm39) |
R120Q |
probably benign |
Het |
| Ccr1l1 |
A |
C |
9: 123,778,444 (GRCm39) |
M1R |
probably null |
Het |
| Clca3a2 |
A |
G |
3: 144,803,530 (GRCm39) |
S105P |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,508 (GRCm39) |
T502A |
possibly damaging |
Het |
| Ddx10 |
C |
T |
9: 53,028,452 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
G |
A |
15: 28,233,441 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
T |
14: 121,879,035 (GRCm39) |
|
probably benign |
Het |
| Gli2 |
A |
G |
1: 118,765,166 (GRCm39) |
V995A |
probably benign |
Het |
| Gpr34 |
T |
C |
X: 13,505,788 (GRCm39) |
Y106H |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,731,862 (GRCm39) |
|
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,138,392 (GRCm39) |
R154L |
probably damaging |
Het |
| Mat1a |
T |
A |
14: 40,827,561 (GRCm39) |
V5E |
probably benign |
Het |
| Meioc |
A |
T |
11: 102,571,495 (GRCm39) |
E943V |
probably damaging |
Het |
| Mtcl1 |
G |
A |
17: 66,645,014 (GRCm39) |
P1478S |
probably damaging |
Het |
| Nav2 |
C |
T |
7: 49,141,205 (GRCm39) |
R917* |
probably null |
Het |
| Or4f47 |
T |
C |
2: 111,972,518 (GRCm39) |
I76T |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,389,285 (GRCm39) |
N87S |
possibly damaging |
Het |
| Pcsk9 |
T |
A |
4: 106,303,967 (GRCm39) |
I506L |
probably benign |
Het |
| Phf14 |
T |
A |
6: 11,953,366 (GRCm39) |
D368E |
probably damaging |
Het |
| Phka1 |
C |
A |
X: 101,580,819 (GRCm39) |
S964I |
probably damaging |
Het |
| Pikfyve |
G |
A |
1: 65,286,226 (GRCm39) |
R1155Q |
probably damaging |
Het |
| Plin2 |
C |
T |
4: 86,580,315 (GRCm39) |
V60M |
probably damaging |
Het |
| Ptpn9 |
A |
G |
9: 56,934,671 (GRCm39) |
Q145R |
possibly damaging |
Het |
| Sap30 |
A |
G |
8: 57,940,335 (GRCm39) |
I89T |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,881,276 (GRCm39) |
|
probably null |
Het |
| Slc6a3 |
G |
A |
13: 73,705,300 (GRCm39) |
|
probably null |
Het |
| Slfn4 |
A |
T |
11: 83,077,400 (GRCm39) |
T63S |
probably benign |
Het |
| Tbx10 |
A |
T |
19: 4,048,571 (GRCm39) |
|
probably benign |
Het |
| Tie1 |
A |
T |
4: 118,337,420 (GRCm39) |
N501K |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,685,966 (GRCm39) |
Y134N |
probably damaging |
Het |
| Uevld |
A |
T |
7: 46,580,778 (GRCm39) |
D361E |
possibly damaging |
Het |
| Ugt1a5 |
A |
C |
1: 88,094,537 (GRCm39) |
D255A |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,201,935 (GRCm39) |
F190L |
probably benign |
Het |
| Wfs1 |
G |
A |
5: 37,132,941 (GRCm39) |
R113C |
probably damaging |
Het |
| Yipf5 |
T |
G |
18: 40,339,449 (GRCm39) |
M206L |
probably benign |
Het |
| Zbtb10 |
A |
G |
3: 9,346,047 (GRCm39) |
D847G |
probably benign |
Het |
| Zfp786 |
T |
A |
6: 47,798,258 (GRCm39) |
K227* |
probably null |
Het |
|
| Other mutations in Slc34a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00785:Slc34a2
|
APN |
5 |
53,222,950 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL00845:Slc34a2
|
APN |
5 |
53,215,696 (GRCm39) |
splice site |
probably benign |
|
|
IGL01024:Slc34a2
|
APN |
5 |
53,224,972 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01300:Slc34a2
|
APN |
5 |
53,225,469 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01680:Slc34a2
|
APN |
5 |
53,218,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Slc34a2
|
APN |
5 |
53,225,073 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02682:Slc34a2
|
APN |
5 |
53,216,580 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
tucumcari
|
UTSW |
5 |
53,221,351 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
D4216:Slc34a2
|
UTSW |
5 |
53,222,839 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0094:Slc34a2
|
UTSW |
5 |
53,221,310 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0227:Slc34a2
|
UTSW |
5 |
53,226,968 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0524:Slc34a2
|
UTSW |
5 |
53,222,215 (GRCm39) |
nonsense |
probably null |
|
|
R0836:Slc34a2
|
UTSW |
5 |
53,225,049 (GRCm39) |
missense |
probably benign |
|
|
R1525:Slc34a2
|
UTSW |
5 |
53,226,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1655:Slc34a2
|
UTSW |
5 |
53,226,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1753:Slc34a2
|
UTSW |
5 |
53,218,733 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1838:Slc34a2
|
UTSW |
5 |
53,215,778 (GRCm39) |
missense |
probably benign |
|
|
R2361:Slc34a2
|
UTSW |
5 |
53,225,487 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2405:Slc34a2
|
UTSW |
5 |
53,215,523 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3688:Slc34a2
|
UTSW |
5 |
53,222,174 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4108:Slc34a2
|
UTSW |
5 |
53,221,351 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4176:Slc34a2
|
UTSW |
5 |
53,224,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4380:Slc34a2
|
UTSW |
5 |
53,226,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4464:Slc34a2
|
UTSW |
5 |
53,226,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4780:Slc34a2
|
UTSW |
5 |
53,226,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4816:Slc34a2
|
UTSW |
5 |
53,226,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Slc34a2
|
UTSW |
5 |
53,224,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5265:Slc34a2
|
UTSW |
5 |
53,218,776 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5309:Slc34a2
|
UTSW |
5 |
53,226,830 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5313:Slc34a2
|
UTSW |
5 |
53,226,681 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5884:Slc34a2
|
UTSW |
5 |
53,226,722 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6084:Slc34a2
|
UTSW |
5 |
53,224,989 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6310:Slc34a2
|
UTSW |
5 |
53,222,139 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6568:Slc34a2
|
UTSW |
5 |
53,226,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6817:Slc34a2
|
UTSW |
5 |
53,221,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6845:Slc34a2
|
UTSW |
5 |
53,226,511 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6944:Slc34a2
|
UTSW |
5 |
53,222,225 (GRCm39) |
missense |
probably benign |
|
|
R7873:Slc34a2
|
UTSW |
5 |
53,215,714 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8114:Slc34a2
|
UTSW |
5 |
53,225,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8158:Slc34a2
|
UTSW |
5 |
53,218,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Slc34a2
|
UTSW |
5 |
53,225,716 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9158:Slc34a2
|
UTSW |
5 |
53,221,217 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9235:Slc34a2
|
UTSW |
5 |
53,226,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9314:Slc34a2
|
UTSW |
5 |
53,218,143 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1176:Slc34a2
|
UTSW |
5 |
53,218,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation