Incidental Mutation 'IGL01300:Slc34a2'
| ID |
75246 |
| 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 # |
IGL01300
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
53206695-53229006 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to C
at 53225469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
|
| AlphaFold |
Q9DBP0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094787
|
| SMART Domains |
Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
| 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 null
Transcript: ENSMUST00000168667
|
| SMART Domains |
Protein: ENSMUSP00000132328
Gene: ENSMUSG00000029188
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Na_Pi_cotrans
|
110 |
253 |
1.2e-33 |
PFAM |
|
Pfam:Na_Pi_cotrans
|
379 |
517 |
4.1e-15 |
PFAM |
|
low complexity region
|
557 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
590 |
596 |
N/A |
INTRINSIC |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa8 |
A |
G |
14: 33,821,700 (GRCm39) |
D300G |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,324,738 (GRCm39) |
H1161R |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,331,372 (GRCm39) |
R1471Q |
unknown |
Het |
| Gm14496 |
A |
T |
2: 181,642,753 (GRCm39) |
E808V |
probably damaging |
Het |
| Gm1968 |
T |
C |
16: 29,781,038 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmb |
G |
A |
14: 56,497,653 (GRCm39) |
R196C |
probably benign |
Het |
| Hkdc1 |
A |
G |
10: 62,231,040 (GRCm39) |
|
probably benign |
Het |
| Itgal |
T |
A |
7: 126,913,290 (GRCm39) |
V629E |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,287,083 (GRCm39) |
Y1050N |
probably damaging |
Het |
| Lrrc69 |
C |
T |
4: 14,773,663 (GRCm39) |
|
probably benign |
Het |
| Mmd |
T |
C |
11: 90,140,537 (GRCm39) |
M1T |
probably null |
Het |
| Myh6 |
A |
G |
14: 55,200,548 (GRCm39) |
V191A |
possibly damaging |
Het |
| Mynn |
A |
G |
3: 30,667,755 (GRCm39) |
N485S |
probably damaging |
Het |
| Naa30 |
C |
T |
14: 49,410,714 (GRCm39) |
T214M |
probably damaging |
Het |
| Ncoa3 |
A |
T |
2: 165,910,381 (GRCm39) |
T1265S |
probably benign |
Het |
| Or10al2 |
C |
A |
17: 37,983,778 (GRCm39) |
T288K |
probably damaging |
Het |
| Or1j10 |
T |
C |
2: 36,267,054 (GRCm39) |
S89P |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,480,327 (GRCm39) |
C138R |
possibly damaging |
Het |
| Prom2 |
A |
T |
2: 127,377,009 (GRCm39) |
L535H |
probably benign |
Het |
| Pros1 |
T |
C |
16: 62,734,174 (GRCm39) |
F327L |
possibly damaging |
Het |
| Ros1 |
A |
G |
10: 51,977,809 (GRCm39) |
M1479T |
probably benign |
Het |
| Scn9a |
G |
A |
2: 66,318,397 (GRCm39) |
Q1465* |
probably null |
Het |
| Serpinb3b |
A |
G |
1: 107,083,573 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,099,253 (GRCm39) |
Q339* |
probably null |
Het |
| Smc3 |
T |
A |
19: 53,630,283 (GRCm39) |
|
probably benign |
Het |
| Tmem30a |
A |
G |
9: 79,682,382 (GRCm39) |
|
probably null |
Het |
| Trappc11 |
A |
T |
8: 47,954,903 (GRCm39) |
D878E |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,741,628 (GRCm39) |
T1325M |
probably damaging |
Het |
| Ttc12 |
A |
T |
9: 49,359,222 (GRCm39) |
|
probably benign |
Het |
| Vmn1r237 |
T |
A |
17: 21,534,337 (GRCm39) |
I20N |
probably damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,578,755 (GRCm39) |
S743T |
probably damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,414 (GRCm39) |
Y311H |
probably benign |
Het |
| Vnn3 |
T |
A |
10: 23,740,263 (GRCm39) |
F189I |
possibly damaging |
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 |
|
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 |
|
IGL03294:Slc34a2
|
APN |
5 |
53,221,340 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-10-07 |
Incidental Mutation