Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02226:Slc34a2'

285345

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

D5Ertd227e, type IIb Na/Picotransporter, Npt2b, NaPi-2b

Accession Numbers

Genbank: NM_011402; MGI: 1342284

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02226

Quality Score

Status

Chromosome

Chromosomal Location

53038081-53071664 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53067731 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 405 (T405A)

Ref Sequence

ENSEMBL: ENSMUSP00000092380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094787]

AlphaFold

Q9DBP0

Predicted Effect

probably benign
Transcript: ENSMUST00000094787
AA Change: T405A

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: T405A

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	C	X: 89,931,912	D226E	probably damaging	Het
Akap6	T	C	12: 53,010,467		probably benign	Het
Ankrd11	G	A	8: 122,892,245	R1602W	probably damaging	Het
Arhgap23	G	T	11: 97,451,600	R236L	probably benign	Het
Aurkaip1	T	C	4: 155,832,571	V92A	probably benign	Het
Cdh20	A	T	1: 104,954,091		probably benign	Het
Ctnnd2	A	G	15: 30,847,336	N691S	probably benign	Het
Ddx24	A	C	12: 103,424,458	D2E	possibly damaging	Het
Dennd5b	A	G	6: 149,033,301	S691P	probably benign	Het
Dhrs3	C	T	4: 144,923,949	R248W	possibly damaging	Het
Dlgap1	T	C	17: 70,516,034	S5P	probably damaging	Het
Ep300	A	T	15: 81,613,412	M510L	unknown	Het
Fbxo25	T	C	8: 13,923,922		probably benign	Het
Gm3252	A	T	14: 4,743,741	K193M	possibly damaging	Het
Gtf3c1	T	C	7: 125,667,990		probably null	Het
Helz2	T	C	2: 181,231,690	D2337G	probably damaging	Het
Idh1	A	T	1: 65,161,922	M290K	probably damaging	Het
Layn	T	C	9: 51,074,017	S80G	probably damaging	Het
Ltbp4	C	T	7: 27,306,934	E1440K	probably damaging	Het
Mri1	T	C	8: 84,256,295	T166A	probably damaging	Het
Myod1	C	T	7: 46,378,306	T290I	probably benign	Het
Nfat5	T	A	8: 107,351,522	L431*	probably null	Het
Nle1	A	T	11: 82,904,307	Y299*	probably null	Het
Nlrp4c	T	A	7: 6,066,829	F576L	possibly damaging	Het
Nudt21	G	T	8: 94,019,701	S123*	probably null	Het
Plekhg1	A	C	10: 3,945,916	D436A	probably damaging	Het
Plxna2	T	C	1: 194,644,424	V222A	probably damaging	Het
Rbm14	A	G	19: 4,801,717		probably benign	Het
Scfd1	T	A	12: 51,389,381		probably benign	Het
Slc39a9	T	A	12: 80,644,921	M14K	probably damaging	Het
Slc39a9	G	A	12: 80,644,922	M14I	probably damaging	Het
Spast	G	A	17: 74,372,339		probably benign	Het
Spen	T	C	4: 141,478,146	R1057G	unknown	Het
Sptbn4	T	G	7: 27,365,707	T2056P	probably damaging	Het
Ssrp1	T	C	2: 85,040,361	L148P	probably damaging	Het
Tdrd6	T	A	17: 43,627,202	H985L	probably damaging	Het
Tmem44	A	G	16: 30,539,381		probably benign	Het
Vmn2r116	T	A	17: 23,384,834	L11Q	probably null	Het
Wdr78	A	T	4: 103,090,398	I227K	probably benign	Het

Other mutations in Slc34a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00785:Slc34a2	APN	5	53065608	missense	probably benign	0.06
IGL00845:Slc34a2	APN	5	53058354	splice site	probably benign
IGL01024:Slc34a2	APN	5	53067630	missense	possibly damaging	0.61
IGL01300:Slc34a2	APN	5	53068127	critical splice acceptor site	probably null
IGL01680:Slc34a2	APN	5	53060876	missense	probably damaging	1.00
IGL02682:Slc34a2	APN	5	53059238	missense	possibly damaging	0.64
IGL03294:Slc34a2	APN	5	53063998	missense	probably benign	0.00
tucumcari	UTSW	5	53064009	missense	possibly damaging	0.68
D4216:Slc34a2	UTSW	5	53065497	missense	probably benign	0.01
R0094:Slc34a2	UTSW	5	53063968	missense	probably benign	0.28
R0227:Slc34a2	UTSW	5	53069626	missense	possibly damaging	0.51
R0524:Slc34a2	UTSW	5	53064873	nonsense	probably null
R0836:Slc34a2	UTSW	5	53067707	missense	probably benign
R1525:Slc34a2	UTSW	5	53069506	missense	probably benign	0.00
R1655:Slc34a2	UTSW	5	53069419	missense	probably benign	0.00
R1753:Slc34a2	UTSW	5	53061391	missense	probably benign	0.37
R1838:Slc34a2	UTSW	5	53058436	missense	probably benign
R2361:Slc34a2	UTSW	5	53068145	missense	probably benign	0.10
R2405:Slc34a2	UTSW	5	53058181	missense	probably benign	0.04
R3688:Slc34a2	UTSW	5	53064832	missense	probably benign	0.06
R4108:Slc34a2	UTSW	5	53064009	missense	possibly damaging	0.68
R4176:Slc34a2	UTSW	5	53067568	missense	probably damaging	1.00
R4380:Slc34a2	UTSW	5	53069286	missense	probably damaging	1.00
R4464:Slc34a2	UTSW	5	53069182	missense	probably damaging	0.99
R4780:Slc34a2	UTSW	5	53069451	missense	probably damaging	1.00
R4816:Slc34a2	UTSW	5	53069020	missense	probably damaging	1.00
R4934:Slc34a2	UTSW	5	53067600	missense	probably damaging	1.00
R5265:Slc34a2	UTSW	5	53061434	missense	probably damaging	0.96
R5309:Slc34a2	UTSW	5	53069488	missense	probably damaging	0.96
R5313:Slc34a2	UTSW	5	53069339	missense	probably damaging	0.96
R5884:Slc34a2	UTSW	5	53069380	missense	possibly damaging	0.46
R6084:Slc34a2	UTSW	5	53067647	missense	possibly damaging	0.91
R6310:Slc34a2	UTSW	5	53064797	critical splice acceptor site	probably null
R6568:Slc34a2	UTSW	5	53069134	missense	probably damaging	1.00
R6817:Slc34a2	UTSW	5	53064028	missense	probably damaging	0.98
R6845:Slc34a2	UTSW	5	53069169	missense	probably damaging	0.96
R6944:Slc34a2	UTSW	5	53064883	missense	probably benign
R7873:Slc34a2	UTSW	5	53058372	missense	probably benign	0.02
R8114:Slc34a2	UTSW	5	53068359	missense	probably benign	0.00
R8158:Slc34a2	UTSW	5	53060840	missense	probably damaging	1.00
R8364:Slc34a2	UTSW	5	53068374	missense	possibly damaging	0.75
R9158:Slc34a2	UTSW	5	53063875	missense	possibly damaging	0.95
R9235:Slc34a2	UTSW	5	53069325	missense	probably benign	0.00
R9314:Slc34a2	UTSW	5	53060801	missense	possibly damaging	0.61
Z1176:Slc34a2	UTSW	5	53060817	missense	probably damaging	1.00

Posted On

2015-04-16