Incidental Mutation 'R0227:Slc34a2'
| ID |
33986 |
| 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 |
038472-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0227 (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 53226968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 697
(F697S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
|
| AlphaFold |
Q9DBP0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094787
AA Change: F697S
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: F697S
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
| Validation Efficiency |
86% (37/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
A |
T |
7: 136,989,438 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
T |
A |
17: 66,294,222 (GRCm39) |
T404S |
probably benign |
Het |
| Ap4m1 |
T |
C |
5: 138,174,538 (GRCm39) |
|
probably benign |
Het |
| Atn1 |
A |
T |
6: 124,723,893 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,416,533 (GRCm39) |
Y202C |
possibly damaging |
Het |
| Ceacam18 |
G |
T |
7: 43,288,815 (GRCm39) |
G189C |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,971,117 (GRCm39) |
W67* |
probably null |
Het |
| Col2a1 |
C |
T |
15: 97,874,636 (GRCm39) |
E1334K |
unknown |
Het |
| Crim1 |
A |
G |
17: 78,651,938 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,441,836 (GRCm39) |
S343P |
probably benign |
Het |
| D430041D05Rik |
G |
T |
2: 104,035,545 (GRCm39) |
D1594E |
possibly damaging |
Het |
| Ess2 |
C |
T |
16: 17,720,135 (GRCm39) |
V406I |
probably damaging |
Het |
| Gcm2 |
C |
T |
13: 41,259,332 (GRCm39) |
V46M |
probably damaging |
Het |
| Gm3486 |
A |
T |
14: 41,206,518 (GRCm39) |
V185E |
probably benign |
Het |
| Gtf3a |
C |
A |
5: 146,892,199 (GRCm39) |
R317S |
probably damaging |
Het |
| Ice2 |
A |
G |
9: 69,319,510 (GRCm39) |
I320V |
probably benign |
Het |
| Jag1 |
A |
G |
2: 136,957,538 (GRCm39) |
V58A |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,293,184 (GRCm39) |
E1241G |
probably benign |
Het |
| Mogat2 |
T |
A |
7: 98,872,339 (GRCm39) |
I171F |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
A |
T |
11: 75,549,520 (GRCm39) |
Y201F |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,796,806 (GRCm39) |
I884V |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,209,541 (GRCm39) |
I264T |
possibly damaging |
Het |
| Or8g30 |
A |
G |
9: 39,229,974 (GRCm39) |
V312A |
probably benign |
Het |
| Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
T |
C |
5: 130,219,831 (GRCm39) |
V98A |
probably damaging |
Het |
| Raly |
A |
G |
2: 154,707,841 (GRCm39) |
D287G |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,565,136 (GRCm39) |
V117A |
probably benign |
Het |
| Son |
T |
A |
16: 91,453,761 (GRCm39) |
M836K |
probably damaging |
Het |
| Spock1 |
T |
C |
13: 57,588,290 (GRCm39) |
M258V |
possibly damaging |
Het |
| Stk10 |
G |
T |
11: 32,567,859 (GRCm39) |
C887F |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 122,907,442 (GRCm39) |
S625P |
probably benign |
Het |
| Synrg |
T |
A |
11: 83,900,258 (GRCm39) |
D821E |
probably damaging |
Het |
| Tafa5 |
T |
C |
15: 87,604,691 (GRCm39) |
|
probably benign |
Het |
| Tg |
C |
A |
15: 66,570,295 (GRCm39) |
A1389E |
possibly damaging |
Het |
| Tspan33 |
G |
A |
6: 29,713,477 (GRCm39) |
V134M |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
| Vmn1r210 |
C |
T |
13: 23,011,561 (GRCm39) |
V242I |
probably benign |
Het |
| Vmn1r63 |
C |
T |
7: 5,805,741 (GRCm39) |
W297* |
probably null |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Zic5 |
A |
G |
14: 122,697,073 (GRCm39) |
I514T |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCACTCTCTGAAACCCTGGGAC -3'
(R):5'- ACTGTTACTCTGGTGGTAGGAGAGC -3'
Sequencing Primer
(F):5'- ttgctgctgctgttgcc -3'
(R):5'- AGAGCTAGAGTTGGTGTTATTCTTCC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation