Incidental Mutation 'IGL02682:Slc34a2'
ID |
303398 |
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 # |
IGL02682
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
53206695-53229006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53216580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 117
(V117A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130692
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
[ENSMUST00000170523]
|
AlphaFold |
Q9DBP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094787
AA Change: V117A
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000092380 Gene: ENSMUSG00000029188 AA Change: V117A
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: V117A
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000130692 Gene: ENSMUSG00000029188 AA Change: V117A
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1 |
A |
G |
2: 58,367,823 (GRCm39) |
S113P |
probably benign |
Het |
Arhgdib |
A |
T |
6: 136,901,166 (GRCm39) |
W188R |
probably damaging |
Het |
Bcr |
T |
A |
10: 75,001,878 (GRCm39) |
N927K |
possibly damaging |
Het |
Cd209c |
A |
G |
8: 3,990,324 (GRCm39) |
Y165H |
probably damaging |
Het |
Cnnm2 |
A |
G |
19: 46,750,515 (GRCm39) |
K102E |
probably benign |
Het |
Col12a1 |
T |
C |
9: 79,606,623 (GRCm39) |
E600G |
probably damaging |
Het |
Ddx4 |
A |
T |
13: 112,758,720 (GRCm39) |
H280Q |
probably benign |
Het |
Eya4 |
T |
C |
10: 22,992,498 (GRCm39) |
Y462C |
probably damaging |
Het |
Fibcd1 |
T |
A |
2: 31,728,576 (GRCm39) |
I94F |
probably damaging |
Het |
Gm4846 |
C |
A |
1: 166,322,195 (GRCm39) |
G124V |
probably damaging |
Het |
Gm5624 |
A |
G |
14: 44,797,469 (GRCm39) |
I108T |
possibly damaging |
Het |
Gpr179 |
A |
T |
11: 97,242,691 (GRCm39) |
M51K |
probably benign |
Het |
Hck |
A |
G |
2: 152,976,054 (GRCm39) |
I198V |
probably damaging |
Het |
Kcnd2 |
T |
A |
6: 21,216,924 (GRCm39) |
C209* |
probably null |
Het |
Klhl1 |
T |
A |
14: 96,438,778 (GRCm39) |
I507F |
possibly damaging |
Het |
Knl1 |
A |
T |
2: 118,908,450 (GRCm39) |
K1693N |
possibly damaging |
Het |
Mcam |
T |
C |
9: 44,051,714 (GRCm39) |
V490A |
possibly damaging |
Het |
Mrgprx1 |
A |
T |
7: 47,671,740 (GRCm39) |
D2E |
probably damaging |
Het |
Mtg1 |
T |
C |
7: 139,724,642 (GRCm39) |
|
probably benign |
Het |
Myof |
C |
A |
19: 37,909,929 (GRCm39) |
R1512L |
probably benign |
Het |
Nrp2 |
C |
T |
1: 62,810,996 (GRCm39) |
T679I |
probably benign |
Het |
Nwd2 |
C |
A |
5: 63,962,020 (GRCm39) |
L535I |
probably benign |
Het |
Nwd2 |
T |
A |
5: 63,962,021 (GRCm39) |
L535H |
probably damaging |
Het |
Or4f14b |
T |
A |
2: 111,775,285 (GRCm39) |
N172I |
probably damaging |
Het |
Or52j3 |
A |
T |
7: 102,836,221 (GRCm39) |
I138F |
probably damaging |
Het |
Or5b94 |
T |
C |
19: 12,652,033 (GRCm39) |
S155P |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,602,275 (GRCm39) |
*41W |
probably null |
Het |
Prl5a1 |
T |
A |
13: 28,329,403 (GRCm39) |
N27K |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,358,708 (GRCm39) |
T1292A |
probably damaging |
Het |
Rnf38 |
G |
A |
4: 44,133,745 (GRCm39) |
A376V |
probably damaging |
Het |
Slfn8 |
A |
T |
11: 82,894,517 (GRCm39) |
F707L |
probably damaging |
Het |
Snx16 |
G |
A |
3: 10,503,235 (GRCm39) |
P4L |
probably damaging |
Het |
Snx6 |
T |
C |
12: 54,801,130 (GRCm39) |
D289G |
probably damaging |
Het |
St8sia3 |
G |
T |
18: 64,402,750 (GRCm39) |
V130F |
probably damaging |
Het |
U2surp |
A |
G |
9: 95,363,704 (GRCm39) |
|
probably null |
Het |
Ubqln3 |
A |
G |
7: 103,791,272 (GRCm39) |
F273L |
probably benign |
Het |
Vmn2r101 |
A |
T |
17: 19,832,507 (GRCm39) |
R834S |
possibly damaging |
Het |
Vmn2r18 |
G |
T |
5: 151,508,102 (GRCm39) |
H341N |
probably damaging |
Het |
Vrk3 |
A |
G |
7: 44,403,244 (GRCm39) |
I2V |
probably benign |
Het |
Zglp1 |
A |
G |
9: 20,977,534 (GRCm39) |
S94P |
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 |
|
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 |
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 |