Incidental Mutation 'IGL01680:Slc34a2'
| ID |
103751 |
| 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 # |
IGL01680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
53206695-53229006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53218218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 166
(I166V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
[ENSMUST00000170523]
|
| AlphaFold |
Q9DBP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094787
AA Change: I166V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: I166V
| 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 |
possibly damaging
Transcript: ENSMUST00000170523
AA Change: I166V
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130692
Gene: ENSMUSG00000029188
AA Change: I166V
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
C |
17: 57,709,620 (GRCm39) |
W121R |
unknown |
Het |
| Adprh |
C |
T |
16: 38,270,578 (GRCm39) |
G76S |
possibly damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,423,976 (GRCm39) |
T697A |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,680,705 (GRCm39) |
M489T |
probably benign |
Het |
| Clec5a |
A |
G |
6: 40,561,314 (GRCm39) |
Y44H |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,833,426 (GRCm39) |
H950R |
probably damaging |
Het |
| Dennd10 |
A |
G |
19: 60,805,972 (GRCm39) |
T86A |
possibly damaging |
Het |
| Dgkz |
G |
T |
2: 91,766,210 (GRCm39) |
P784T |
probably benign |
Het |
| Dok1 |
T |
C |
6: 83,008,293 (GRCm39) |
D463G |
possibly damaging |
Het |
| Eif4a2 |
C |
A |
16: 22,927,941 (GRCm39) |
Q94K |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,055,956 (GRCm39) |
L1710P |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,808,988 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,372,137 (GRCm39) |
|
probably null |
Het |
| Gga2 |
G |
T |
7: 121,597,299 (GRCm39) |
D363E |
probably benign |
Het |
| Glis2 |
T |
A |
16: 4,429,195 (GRCm39) |
F133I |
possibly damaging |
Het |
| Isg20 |
A |
G |
7: 78,566,333 (GRCm39) |
D94G |
probably damaging |
Het |
| Kif23 |
T |
C |
9: 61,839,096 (GRCm39) |
D319G |
probably benign |
Het |
| Lbr |
C |
A |
1: 181,663,759 (GRCm39) |
R87L |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,771,513 (GRCm39) |
T715A |
probably benign |
Het |
| Mapk14 |
T |
C |
17: 28,944,820 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
A |
C |
1: 59,169,226 (GRCm39) |
C341W |
probably benign |
Het |
| Mroh9 |
C |
T |
1: 162,875,551 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,322,630 (GRCm39) |
V20A |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,249 (GRCm39) |
S154P |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,436 (GRCm39) |
C171* |
probably null |
Het |
| Or7c19 |
A |
T |
8: 85,957,308 (GRCm39) |
L61F |
probably benign |
Het |
| Pofut2 |
C |
T |
10: 77,099,127 (GRCm39) |
R186W |
probably damaging |
Het |
| Ppp1r1b |
T |
A |
11: 98,241,392 (GRCm39) |
|
probably null |
Het |
| Slc4a2 |
A |
G |
5: 24,637,928 (GRCm39) |
T375A |
probably benign |
Het |
| Slitrk5 |
C |
A |
14: 111,916,432 (GRCm39) |
H19N |
probably benign |
Het |
| Sptb |
T |
A |
12: 76,677,456 (GRCm39) |
Q126L |
probably damaging |
Het |
| Stoml1 |
T |
C |
9: 58,163,996 (GRCm39) |
V105A |
probably damaging |
Het |
| Stt3b |
C |
A |
9: 115,075,329 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,913,488 (GRCm39) |
E144G |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,498,937 (GRCm39) |
Y49H |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,315,586 (GRCm39) |
W160* |
probably null |
Het |
| Zfp647 |
T |
A |
15: 76,801,968 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation