Incidental Mutation 'IGL02226:Slc34a2'
| ID |
285345 |
| 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 # |
IGL02226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
53206695-53229006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53225073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 405
(T405A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
|
| AlphaFold |
Q9DBP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094787
AA Change: T405A
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: T405A
| 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
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
T |
C |
12: 53,057,250 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,618,984 (GRCm39) |
R1602W |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,342,426 (GRCm39) |
R236L |
probably benign |
Het |
| Aurkaip1 |
T |
C |
4: 155,917,028 (GRCm39) |
V92A |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 104,881,816 (GRCm39) |
|
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 30,847,482 (GRCm39) |
N691S |
probably benign |
Het |
| Ddx24 |
A |
C |
12: 103,390,717 (GRCm39) |
D2E |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,934,799 (GRCm39) |
S691P |
probably benign |
Het |
| Dhrs3 |
C |
T |
4: 144,650,519 (GRCm39) |
R248W |
possibly damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,029 (GRCm39) |
S5P |
probably damaging |
Het |
| Dnai4 |
A |
T |
4: 102,947,595 (GRCm39) |
I227K |
probably benign |
Het |
| Ep300 |
A |
T |
15: 81,497,613 (GRCm39) |
M510L |
unknown |
Het |
| Fbxo25 |
T |
C |
8: 13,973,922 (GRCm39) |
|
probably benign |
Het |
| Gm3252 |
A |
T |
14: 4,743,741 (GRCm38) |
K193M |
possibly damaging |
Het |
| Gtf3c1 |
T |
C |
7: 125,267,162 (GRCm39) |
|
probably null |
Het |
| Helz2 |
T |
C |
2: 180,873,483 (GRCm39) |
D2337G |
probably damaging |
Het |
| Idh1 |
A |
T |
1: 65,201,081 (GRCm39) |
M290K |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,985,317 (GRCm39) |
S80G |
probably damaging |
Het |
| Ltbp4 |
C |
T |
7: 27,006,359 (GRCm39) |
E1440K |
probably damaging |
Het |
| Mri1 |
T |
C |
8: 84,982,924 (GRCm39) |
T166A |
probably damaging |
Het |
| Myod1 |
C |
T |
7: 46,027,730 (GRCm39) |
T290I |
probably benign |
Het |
| Nfat5 |
T |
A |
8: 108,078,154 (GRCm39) |
L431* |
probably null |
Het |
| Nle1 |
A |
T |
11: 82,795,133 (GRCm39) |
Y299* |
probably null |
Het |
| Nlrp4c |
T |
A |
7: 6,069,828 (GRCm39) |
F576L |
possibly damaging |
Het |
| Nudt21 |
G |
T |
8: 94,746,329 (GRCm39) |
S123* |
probably null |
Het |
| Plekhg1 |
A |
C |
10: 3,895,916 (GRCm39) |
D436A |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,326,732 (GRCm39) |
V222A |
probably damaging |
Het |
| Ppp4r3c1 |
A |
C |
X: 88,975,518 (GRCm39) |
D226E |
probably damaging |
Het |
| Rbm14 |
A |
G |
19: 4,851,745 (GRCm39) |
|
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,436,164 (GRCm39) |
|
probably benign |
Het |
| Slc39a9 |
T |
A |
12: 80,691,695 (GRCm39) |
M14K |
probably damaging |
Het |
| Slc39a9 |
G |
A |
12: 80,691,696 (GRCm39) |
M14I |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,679,334 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,457 (GRCm39) |
R1057G |
unknown |
Het |
| Sptbn4 |
T |
G |
7: 27,065,132 (GRCm39) |
T2056P |
probably damaging |
Het |
| Ssrp1 |
T |
C |
2: 84,870,705 (GRCm39) |
L148P |
probably damaging |
Het |
| Tdrd6 |
T |
A |
17: 43,938,093 (GRCm39) |
H985L |
probably damaging |
Het |
| Tmem44 |
A |
G |
16: 30,358,199 (GRCm39) |
|
probably benign |
Het |
| Vmn2r116 |
T |
A |
17: 23,603,808 (GRCm39) |
L11Q |
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 |
|
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 |
2015-04-16 |
Incidental Mutation