Incidental Mutation 'R5313:Slc34a2'
| ID |
405691 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
042896-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
53206695-53229006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53226681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 542
(K542N)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
|
| AlphaFold |
Q9DBP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094787
AA Change: K601N
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: K601N
| 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 damaging
Transcript: ENSMUST00000168667
AA Change: K542N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132328
Gene: ENSMUSG00000029188
AA Change: K542N
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
C |
11: 46,022,603 (GRCm39) |
C519R |
probably damaging |
Het |
| Adgra3 |
A |
T |
5: 50,118,651 (GRCm39) |
S966T |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,529,349 (GRCm39) |
Y1115H |
probably damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,874,516 (GRCm39) |
I938F |
probably damaging |
Het |
| Arhgef17 |
A |
C |
7: 100,578,131 (GRCm39) |
L939W |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,501,629 (GRCm39) |
|
probably null |
Het |
| Armh3 |
G |
A |
19: 45,807,414 (GRCm39) |
R661W |
probably damaging |
Het |
| Cacna1d |
A |
C |
14: 30,068,798 (GRCm39) |
I147S |
probably benign |
Het |
| Cdc42bpa |
T |
G |
1: 179,911,998 (GRCm39) |
D525E |
probably benign |
Het |
| Cdh6 |
T |
A |
15: 13,034,723 (GRCm39) |
I646F |
probably damaging |
Het |
| Col6a5 |
T |
G |
9: 105,822,743 (GRCm39) |
I205L |
unknown |
Het |
| Cpox |
T |
A |
16: 58,498,311 (GRCm39) |
Y381* |
probably null |
Het |
| Ctsc |
T |
C |
7: 87,958,761 (GRCm39) |
V347A |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,551,188 (GRCm39) |
E1027K |
probably damaging |
Het |
| Ephb6 |
A |
T |
6: 41,593,727 (GRCm39) |
T537S |
possibly damaging |
Het |
| Fam135a |
T |
C |
1: 24,067,666 (GRCm39) |
I168V |
possibly damaging |
Het |
| Fam234b |
T |
A |
6: 135,186,185 (GRCm39) |
D64E |
possibly damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,842,970 (GRCm39) |
D157E |
probably benign |
Het |
| Fstl5 |
A |
T |
3: 76,500,812 (GRCm39) |
I414F |
possibly damaging |
Het |
| Glp2r |
T |
C |
11: 67,648,357 (GRCm39) |
D115G |
probably damaging |
Het |
| Gpr85 |
A |
T |
6: 13,836,301 (GRCm39) |
V201D |
probably damaging |
Het |
| Ido1 |
A |
C |
8: 25,077,794 (GRCm39) |
I91S |
probably damaging |
Het |
| Ism2 |
G |
A |
12: 87,326,536 (GRCm39) |
P468S |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,538 (GRCm39) |
K1643E |
probably damaging |
Het |
| Or10ak8 |
A |
G |
4: 118,773,995 (GRCm39) |
V223A |
probably benign |
Het |
| Or4c122 |
C |
T |
2: 89,079,721 (GRCm39) |
E106K |
probably benign |
Het |
| Or5b112 |
G |
A |
19: 13,319,429 (GRCm39) |
M102I |
probably benign |
Het |
| Or6c2 |
C |
T |
10: 129,362,950 (GRCm39) |
P285S |
probably damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,615,581 (GRCm39) |
|
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,078,532 (GRCm39) |
V714A |
probably damaging |
Het |
| Septin8 |
C |
T |
11: 53,426,809 (GRCm39) |
T190I |
probably damaging |
Het |
| Slc18a2 |
A |
G |
19: 59,282,275 (GRCm39) |
K494R |
probably benign |
Het |
| Snd1 |
C |
A |
6: 28,668,600 (GRCm39) |
T429K |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Timm10b |
T |
C |
7: 105,290,287 (GRCm39) |
L60P |
probably damaging |
Het |
| Tmprss11a |
A |
T |
5: 86,559,674 (GRCm39) |
Y373N |
probably damaging |
Het |
| Usp17la |
T |
A |
7: 104,510,457 (GRCm39) |
V354D |
probably benign |
Het |
| Zbtb7b |
G |
T |
3: 89,288,626 (GRCm39) |
T64K |
probably 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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGTGTTTGGCCTGTCTC -3'
(R):5'- ATGCTCAGAACTTCCACTTGG -3'
Sequencing Primer
(F):5'- CCTGTCTCTGGCAGGCTG -3'
(R):5'- TAGCTGCATTGTCAAAGGCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation