Incidental Mutation 'R4464:Slc34a2'
| ID |
330266 |
| 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 |
041722-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4464 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
53206695-53229006 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53226524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 490
(L490P)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
|
| AlphaFold |
Q9DBP0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094787
AA Change: L549P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: L549P
| 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: L490P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132328
Gene: ENSMUSG00000029188
AA Change: L490P
| 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 |
|
| Meta Mutation Damage Score |
0.2834 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (35/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,249,612 (GRCm39) |
V1111A |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,830 (GRCm39) |
R304* |
probably null |
Het |
| Aldh8a1 |
C |
A |
10: 21,264,840 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,597,003 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,253,470 (GRCm39) |
Y204H |
probably damaging |
Het |
| Asnsd1 |
C |
A |
1: 53,391,686 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 79,991,137 (GRCm39) |
|
probably null |
Het |
| Cst12 |
G |
A |
2: 148,631,437 (GRCm39) |
V53I |
possibly damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dennd1a |
A |
T |
2: 38,133,402 (GRCm39) |
|
probably benign |
Het |
| Gm7535 |
C |
A |
17: 18,131,924 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Ifngr1 |
G |
A |
10: 19,473,265 (GRCm39) |
V72I |
possibly damaging |
Het |
| Kifap3 |
C |
A |
1: 163,645,464 (GRCm39) |
Q269K |
probably benign |
Het |
| Krt86 |
G |
A |
15: 101,371,795 (GRCm39) |
D122N |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,622,378 (GRCm39) |
K694E |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,826,463 (GRCm39) |
L155S |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,762 (GRCm39) |
N772D |
probably benign |
Het |
| Or12d17 |
C |
T |
17: 37,777,742 (GRCm39) |
S215F |
probably damaging |
Het |
| Prxl2a |
T |
A |
14: 40,719,832 (GRCm39) |
K127N |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,575 (GRCm39) |
N362Y |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,881 (GRCm39) |
T1325I |
probably damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,911,731 (GRCm39) |
N52S |
possibly damaging |
Het |
| Rb1 |
C |
A |
14: 73,436,638 (GRCm39) |
|
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,694,134 (GRCm39) |
N207D |
probably benign |
Het |
| Stat1 |
T |
G |
1: 52,176,575 (GRCm39) |
D257E |
possibly damaging |
Het |
| Tkt |
A |
G |
14: 30,290,231 (GRCm39) |
T165A |
possibly damaging |
Het |
| Trim66 |
A |
T |
7: 109,076,897 (GRCm39) |
S347R |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,617 (GRCm39) |
I276V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAAGACCTGGAGTGACTCTTAC -3'
(R):5'- TGTCCCAGGGTTTCAGAGAG -3'
Sequencing Primer
(F):5'- AGACCTGGAGTGACTCTTACTTCTTC -3'
(R):5'- GGTTTCAGAGAGTGCATCCAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation