Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01680:Slc34a2'

103751

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 #

IGL01680

Quality Score

Status

Chromosome

Chromosomal Location

53038081-53071664 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53060876 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 166 (I166V)

Ref Sequence

ENSEMBL: ENSMUSP00000092380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094787] [ENSMUST00000170523]

Predicted Effect

probably damaging
Transcript: ENSMUST00000094787
AA Change: I166V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: I166V

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

possibly damaging
Transcript: ENSMUST00000170523
AA Change: I166V

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130692
Gene: ENSMUSG00000029188
AA Change: I166V

Domain	Start	End	E-Value	Type
Pfam:Na_Pi_cotrans	110	187	2.9e-20	PFAM

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	C	17: 57,402,620	W121R	unknown	Het
Adprh	C	T	16: 38,450,216	G76S	possibly damaging	Het
Arhgap31	T	C	16: 38,603,614	T697A	probably benign	Het
Ces2f	T	C	8: 104,954,073	M489T	probably benign	Het
Clec5a	A	G	6: 40,584,380	Y44H	probably benign	Het
Csmd3	T	C	15: 47,970,030	H950R	probably damaging	Het
Dgkz	G	T	2: 91,935,865	P784T	probably benign	Het
Dok1	T	C	6: 83,031,312	D463G	possibly damaging	Het
Eif4a2	C	A	16: 23,109,191	Q94K	probably benign	Het
Epg5	T	C	18: 78,012,741	L1710P	probably damaging	Het
Fam45a	A	G	19: 60,817,534	T86A	possibly damaging	Het
Fign	A	G	2: 63,978,644		probably benign	Het
Gbp10	T	C	5: 105,224,271		probably null	Het
Gga2	G	T	7: 121,998,076	D363E	probably benign	Het
Glis2	T	A	16: 4,611,331	F133I	possibly damaging	Het
Isg20	A	G	7: 78,916,585	D94G	probably damaging	Het
Kif23	T	C	9: 61,931,814	D319G	probably benign	Het
Lbr	C	A	1: 181,836,194	R87L	probably damaging	Het
Map3k9	T	C	12: 81,724,739	T715A	probably benign	Het
Mapk14	T	C	17: 28,725,846		probably null	Het
Mpp4	A	C	1: 59,130,067	C341W	probably benign	Het
Mroh9	C	T	1: 163,047,982		probably null	Het
Myo16	T	C	8: 10,272,630	V20A	probably damaging	Het
Olfr1120	T	C	2: 87,357,905	S154P	probably damaging	Het
Olfr371	A	T	8: 85,230,679	L61F	probably benign	Het
Olfr551	A	T	7: 102,588,229	C171*	probably null	Het
Pofut2	C	T	10: 77,263,293	R186W	probably damaging	Het
Ppp1r1b	T	A	11: 98,350,566		probably null	Het
Slc4a2	A	G	5: 24,432,930	T375A	probably benign	Het
Slitrk5	C	A	14: 111,679,000	H19N	probably benign	Het
Sptb	T	A	12: 76,630,682	Q126L	probably damaging	Het
Stoml1	T	C	9: 58,256,713	V105A	probably damaging	Het
Stt3b	C	A	9: 115,246,261		probably benign	Het
Thbs4	T	C	13: 92,776,980	E144G	probably benign	Het
Tns3	A	G	11: 8,548,937	Y49H	probably damaging	Het
Vmn2r87	C	T	10: 130,479,717	W160*	probably null	Het
Zfp647	T	A	15: 76,917,768		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
IGL02226:Slc34a2	APN	5	53067731	missense	probably benign	0.12
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
R7956:Slc34a2	UTSW	5	53058372	missense	probably benign	0.02

Posted On

2014-01-21