Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Slc34a2'

189013

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

039691-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53206695-53229006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53226761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 628 (V628A)

Ref Sequence

ENSEMBL: ENSMUSP00000092380 (fasta)

Gene Model

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

AlphaFold

Q9DBP0

Predicted Effect

probably benign
Transcript: ENSMUST00000094787
AA Change: V628A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: V628A

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

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	T	14: 55,797,790 (GRCm39)		probably benign	Het
Abca1	C	T	4: 53,050,964 (GRCm39)	A1582T	probably benign	Het
Acot8	A	T	2: 164,645,028 (GRCm39)	S52T	probably benign	Het
Atcay	C	T	10: 81,049,231 (GRCm39)	V124M	probably damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Cfap46	A	T	7: 139,222,436 (GRCm39)	Y1180*	probably null	Het
Clptm1	T	A	7: 19,379,792 (GRCm39)	H148L	probably benign	Het
Clstn3	A	G	6: 124,414,386 (GRCm39)	L743P	probably damaging	Het
Crtc3	A	T	7: 80,248,524 (GRCm39)	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,826,341 (GRCm39)	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,080,543 (GRCm39)	T19K	unknown	Het
Disp1	A	T	1: 182,868,568 (GRCm39)	I1284N	probably benign	Het
Dnah2	A	G	11: 69,364,680 (GRCm39)	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,182,715 (GRCm39)	V205I	possibly damaging	Het
Dst	G	T	1: 34,321,657 (GRCm39)	G4391*	probably null	Het
Dytn	A	G	1: 63,700,357 (GRCm39)	S258P	probably damaging	Het
Emilin3	T	A	2: 160,752,786 (GRCm39)		probably null	Het
Ermn	C	T	2: 57,942,596 (GRCm39)	V45I	probably benign	Het
Fat4	T	C	3: 39,011,467 (GRCm39)	V2189A	probably damaging	Het
Fcgbpl1	A	T	7: 27,846,535 (GRCm39)	N1076Y	probably damaging	Het
Filip1l	T	C	16: 57,392,214 (GRCm39)	I934T	probably damaging	Het
Gbp9	T	A	5: 105,229,558 (GRCm39)	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,730,110 (GRCm39)	E227*	probably null	Het
Gsdmc	C	T	15: 63,651,892 (GRCm39)	V240M	probably benign	Het
H2-Q4	G	T	17: 35,601,881 (GRCm39)	V248F	probably damaging	Het
Helz2	T	C	2: 180,875,940 (GRCm39)	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,506,084 (GRCm39)	V3814A	probably benign	Het
Hoatz	A	T	9: 50,994,921 (GRCm39)	I136N	probably damaging	Het
Ifna7	A	G	4: 88,734,897 (GRCm39)	T145A	probably benign	Het
Itgam	T	A	7: 127,714,335 (GRCm39)	M947K	probably benign	Het
Itpr2	T	G	6: 146,277,646 (GRCm39)	N608H	probably damaging	Het
Klra2	T	A	6: 131,197,174 (GRCm39)	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,850,905 (GRCm39)	L219Q	probably damaging	Het
Ly6c2	T	C	15: 74,980,412 (GRCm39)	I126V	probably benign	Het
Mr1	G	A	1: 155,008,201 (GRCm39)	T258M	probably benign	Het
Mrps35	T	G	6: 146,961,726 (GRCm39)	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,461,940 (GRCm39)	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,574,241 (GRCm39)		probably null	Het
Nlrp4a	A	T	7: 26,149,076 (GRCm39)	I228F	possibly damaging	Het
Or13p5	A	G	4: 118,592,196 (GRCm39)	S157G	probably benign	Het
Or5c1	A	G	2: 37,221,951 (GRCm39)	Y64C	probably damaging	Het
Or5p59	A	T	7: 107,702,671 (GRCm39)	I52F	probably damaging	Het
Or8k3	A	G	2: 86,058,424 (GRCm39)	V297A	possibly damaging	Het
Paxx	T	C	2: 25,350,328 (GRCm39)	E93G	probably damaging	Het
Per2	C	A	1: 91,376,490 (GRCm39)	G128W	probably damaging	Het
Piezo1	A	G	8: 123,223,561 (GRCm39)	I796T	probably benign	Het
Pkhd1	A	G	1: 20,654,353 (GRCm39)	S235P	probably damaging	Het
Pole	T	A	5: 110,483,788 (GRCm39)	F259Y	probably damaging	Het
Pus7	T	A	5: 23,952,798 (GRCm39)	K512*	probably null	Het
Ralyl	A	T	3: 14,172,296 (GRCm39)	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,531,347 (GRCm39)	M451K	probably benign	Het
Rhag	T	C	17: 41,142,487 (GRCm39)	F231L	probably damaging	Het
Ric8a	T	C	7: 140,440,808 (GRCm39)	C94R	probably benign	Het
Rictor	T	A	15: 6,801,693 (GRCm39)	D460E	probably benign	Het
Rpn1	T	C	6: 88,077,926 (GRCm39)	V454A	possibly damaging	Het
Sacs	A	G	14: 61,429,231 (GRCm39)	D427G	probably benign	Het
Scai	A	T	2: 38,970,129 (GRCm39)	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 106,973,942 (GRCm39)	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,148,204 (GRCm39)	C277F	probably benign	Het
Slc15a1	A	T	14: 121,703,311 (GRCm39)	Y557N	probably benign	Het
Slc8a2	G	T	7: 15,875,060 (GRCm39)	G436V	probably damaging	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Supt5	T	C	7: 28,029,449 (GRCm39)	I103V	probably benign	Het
Tdrd1	T	A	19: 56,831,648 (GRCm39)	Y346*	probably null	Het
Tg	T	G	15: 66,700,417 (GRCm39)		probably null	Het
Top1	T	A	2: 160,545,616 (GRCm39)		probably null	Het
Trmt12	T	C	15: 58,745,076 (GRCm39)	L158P	probably damaging	Het
Tssk4	A	G	14: 55,889,152 (GRCm39)	N226S	probably damaging	Het
Unc80	G	T	1: 66,711,915 (GRCm39)	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,325,051 (GRCm39)	V999E	probably benign	Het
Virma	T	C	4: 11,494,786 (GRCm39)	V29A	probably damaging	Het
Zfp40	A	T	17: 23,396,240 (GRCm39)	Y48N	probably benign	Het
Zfp609	A	G	9: 65,610,836 (GRCm39)	V709A	possibly damaging	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
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'- TCTGCCAAGTATCGCTGGTTCG -3'
(R):5'- GGCCTTCATGCTCAGAACTTCCAC -3'

Sequencing Primer
(F):5'- AAGTATCGCTGGTTCGCAGTC -3'
(R):5'- GCTCAGAACTTCCACTTGGC -3'

Posted On

2014-05-09