Incidental Mutation 'R6845:Slc34a2'
ID |
534704 |
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 |
044951-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6845 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
53206695-53229006 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 53226511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 545
(F545I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094787]
|
AlphaFold |
Q9DBP0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094787
AA Change: F545I
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000092380 Gene: ENSMUSG00000029188 AA Change: F545I
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 |
|
Meta Mutation Damage Score |
0.2064 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
95% (53/56) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
C |
A |
3: 59,659,539 (GRCm39) |
P331T |
probably damaging |
Het |
Adam6a |
T |
C |
12: 113,507,717 (GRCm39) |
L30P |
possibly damaging |
Het |
Cabin1 |
G |
A |
10: 75,557,342 (GRCm39) |
R1099W |
probably damaging |
Het |
Cdon |
C |
T |
9: 35,398,252 (GRCm39) |
Q990* |
probably null |
Het |
Cit |
T |
A |
5: 116,122,947 (GRCm39) |
L1421Q |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,251,388 (GRCm39) |
S1887P |
possibly damaging |
Het |
Ddx27 |
T |
C |
2: 166,864,016 (GRCm39) |
C242R |
probably damaging |
Het |
Dlgap5 |
A |
T |
14: 47,654,020 (GRCm39) |
V3E |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,110,525 (GRCm39) |
F1687I |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Duoxa1 |
A |
T |
2: 122,135,672 (GRCm39) |
Y142* |
probably null |
Het |
F3 |
A |
G |
3: 121,526,124 (GRCm39) |
K229R |
probably benign |
Het |
Fance |
A |
G |
17: 28,536,565 (GRCm39) |
R42G |
probably damaging |
Het |
Foxs1 |
T |
C |
2: 152,774,619 (GRCm39) |
K145E |
probably benign |
Het |
Gpd1l |
T |
C |
9: 114,762,785 (GRCm39) |
M1V |
probably null |
Het |
Gpr149 |
T |
A |
3: 62,511,942 (GRCm39) |
H19L |
possibly damaging |
Het |
Hmgcs1 |
T |
C |
13: 120,162,674 (GRCm39) |
Y213H |
probably damaging |
Het |
Htra1 |
C |
A |
7: 130,538,021 (GRCm39) |
|
probably benign |
Het |
Il20ra |
A |
G |
10: 19,635,059 (GRCm39) |
I433M |
probably benign |
Het |
Il3ra |
G |
C |
14: 14,346,517 (GRCm38) |
|
probably null |
Het |
Kif11 |
C |
T |
19: 37,392,565 (GRCm39) |
L499F |
probably damaging |
Het |
Kifc3 |
A |
G |
8: 95,835,307 (GRCm39) |
M189T |
probably benign |
Het |
Klk1b3 |
G |
A |
7: 43,851,127 (GRCm39) |
A187T |
probably benign |
Het |
Klre1 |
T |
C |
6: 129,561,202 (GRCm39) |
S188P |
probably damaging |
Het |
Krtap4-13 |
G |
A |
11: 99,700,192 (GRCm39) |
|
probably benign |
Het |
Lgi4 |
A |
T |
7: 30,760,510 (GRCm39) |
T22S |
probably damaging |
Het |
Lrp10 |
C |
T |
14: 54,707,145 (GRCm39) |
R661C |
probably damaging |
Het |
Lrrtm1 |
A |
G |
6: 77,220,864 (GRCm39) |
D107G |
probably benign |
Het |
Mad1l1 |
C |
A |
5: 139,994,924 (GRCm39) |
A701S |
probably damaging |
Het |
Mia2 |
T |
A |
12: 59,231,064 (GRCm39) |
Y1237* |
probably null |
Het |
Mpp4 |
T |
C |
1: 59,183,963 (GRCm39) |
D278G |
probably benign |
Het |
Myh6 |
G |
A |
14: 55,182,206 (GRCm39) |
S1734L |
probably benign |
Het |
Nbeal1 |
C |
T |
1: 60,320,469 (GRCm39) |
R2021* |
probably null |
Het |
Nol4l |
T |
C |
2: 153,258,582 (GRCm39) |
T602A |
probably benign |
Het |
Or5b109 |
T |
A |
19: 13,211,997 (GRCm39) |
C128S |
probably damaging |
Het |
Pcdh15 |
A |
T |
10: 74,466,465 (GRCm39) |
H894L |
probably benign |
Het |
Phldb1 |
A |
T |
9: 44,627,359 (GRCm39) |
I362N |
probably damaging |
Het |
Plcxd2 |
T |
A |
16: 45,830,223 (GRCm39) |
|
probably benign |
Het |
Ppp1r13l |
G |
T |
7: 19,105,323 (GRCm39) |
R365L |
probably damaging |
Het |
Pramel16 |
T |
C |
4: 143,676,394 (GRCm39) |
T237A |
probably benign |
Het |
Rfc1 |
A |
T |
5: 65,468,459 (GRCm39) |
S85T |
possibly damaging |
Het |
Rnf133 |
A |
G |
6: 23,649,341 (GRCm39) |
V196A |
possibly damaging |
Het |
Shank3 |
T |
C |
15: 89,432,528 (GRCm39) |
V1016A |
probably benign |
Het |
Slc22a21 |
T |
C |
11: 53,870,466 (GRCm39) |
D73G |
probably benign |
Het |
Slc4a7 |
T |
A |
14: 14,775,000 (GRCm38) |
M810K |
probably damaging |
Het |
Ss18 |
A |
T |
18: 14,788,221 (GRCm39) |
M83K |
possibly damaging |
Het |
Tkfc |
T |
C |
19: 10,576,696 (GRCm39) |
R94G |
probably damaging |
Het |
Tpp2 |
T |
A |
1: 44,017,668 (GRCm39) |
C757* |
probably null |
Het |
Trav13n-4 |
T |
C |
14: 53,599,856 (GRCm39) |
L11P |
probably damaging |
Het |
Trpm4 |
T |
C |
7: 44,971,753 (GRCm39) |
M138V |
possibly damaging |
Het |
Utp18 |
G |
A |
11: 93,776,582 (GRCm39) |
|
probably benign |
Het |
Vps33a |
A |
G |
5: 123,673,335 (GRCm39) |
V417A |
probably benign |
Het |
Zfp207 |
C |
T |
11: 80,286,317 (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 |
|
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 |
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 |
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'- CTATACACAAGACCTGGAGTGAC -3'
(R):5'- AGGGTTTCAGAGAGTGCATCC -3'
Sequencing Primer
(F):5'- ACAAGACCTGGAGTGACTCTTACTTC -3'
(R):5'- TTTCAGAGAGTGCATCCACAAG -3'
|
Posted On |
2018-09-12 |