Mutagenetix > Incidental Mutation

Incidental Mutation 'R0558:Slc34a3'

45694

Institutional Source

Beutler Lab

Gene Symbol

Slc34a3

Ensembl Gene

ENSMUSG00000006469

Gene Name

solute carrier family 34 (sodium phosphate), member 3

Synonyms

Npt2c, NPTIIc

MMRRC Submission

038750-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

R0558 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25118909-25124282 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 25123077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006638] [ENSMUST00000091318] [ENSMUST00000205192]

AlphaFold

Q80SU6

Predicted Effect

probably benign
Transcript: ENSMUST00000006638

SMART Domains

Protein: ENSMUSP00000006638
Gene: ENSMUSG00000006469

Domain	Start	End	E-Value	Type
Pfam:Na_Pi_cotrans	84	231	1.8e-25	PFAM
low complexity region	254	269	N/A	INTRINSIC
Pfam:Na_Pi_cotrans	337	538	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091318

SMART Domains

Protein: ENSMUSP00000088868
Gene: ENSMUSG00000089953

Domain	Start	End	E-Value	Type
RING	23	69	8.23e-6	SMART
low complexity region	137	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091318

SMART Domains

Protein: ENSMUSP00000145470
Gene: ENSMUSG00000089953

Domain	Start	End	E-Value	Type
RING	23	69	8.23e-6	SMART
low complexity region	137	148	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152997

Predicted Effect

probably benign
Transcript: ENSMUST00000205192

SMART Domains

Protein: ENSMUSP00000145127
Gene: ENSMUSG00000089953

Domain	Start	End	E-Value	Type
RING	23	69	8.23e-6	SMART
low complexity region	137	148	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155420

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypercalciuria, hypercalcemia and increased plasma 1,25(OH)2D3 levels but do not develop hypophosphatemia, renal calcification, rickets, or osteomalacia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,789,163 (GRCm39)	G273R	probably benign	Het
Adamts10	T	C	17: 33,769,583 (GRCm39)	V935A	probably benign	Het
Anapc15-ps	T	C	10: 95,508,983 (GRCm39)	D90G	probably damaging	Het
Atic	T	A	1: 71,602,947 (GRCm39)	V107E	probably benign	Het
Atp4b	T	C	8: 13,443,523 (GRCm39)	T52A	possibly damaging	Het
Cacna1h	C	T	17: 25,600,524 (GRCm39)	A1606T	probably damaging	Het
Cacng6	T	A	7: 3,483,324 (GRCm39)	Y217*	probably null	Het
Cc2d2a	T	G	5: 43,881,729 (GRCm39)		probably benign	Het
Cd226	T	A	18: 89,225,338 (GRCm39)	H78Q	probably benign	Het
Cers3	A	G	7: 66,433,166 (GRCm39)	D161G	probably damaging	Het
Ces1f	T	C	8: 94,002,017 (GRCm39)	H37R	probably benign	Het
Cfhr4	A	G	1: 139,667,230 (GRCm39)	V376A	probably damaging	Het
Chek1	T	A	9: 36,623,411 (GRCm39)	N421I	possibly damaging	Het
Cibar1	T	C	4: 12,164,095 (GRCm39)	D248G	probably damaging	Het
Cma2	T	C	14: 56,210,249 (GRCm39)	Y45H	probably damaging	Het
Cmas	C	A	6: 142,720,970 (GRCm39)	Y401*	probably null	Het
Cyp2j8	A	T	4: 96,332,871 (GRCm39)	S492T	probably benign	Het
Dnah12	T	C	14: 26,430,465 (GRCm39)	S358P	probably benign	Het
Dnajc13	T	C	9: 104,079,151 (GRCm39)		probably null	Het
Ep400	A	C	5: 110,832,933 (GRCm39)		probably benign	Het
Fam209	T	A	2: 172,314,758 (GRCm39)	N82K	probably benign	Het
G3bp2	A	T	5: 92,221,056 (GRCm39)	Y20N	probably damaging	Het
Gli2	T	C	1: 118,765,379 (GRCm39)	D924G	probably benign	Het
Gm10787	T	C	10: 76,857,850 (GRCm39)		noncoding transcript	Het
Gm11568	A	G	11: 99,748,872 (GRCm39)	R26G	unknown	Het
Hivep3	T	G	4: 119,953,763 (GRCm39)	L693R	probably damaging	Het
Hook1	A	G	4: 95,881,449 (GRCm39)		probably benign	Het
Ibtk	A	C	9: 85,619,591 (GRCm39)	D116E	probably damaging	Het
Insrr	C	T	3: 87,718,288 (GRCm39)	T927I	possibly damaging	Het
Irx1	T	G	13: 72,107,747 (GRCm39)	S312R	probably benign	Het
Itga11	T	C	9: 62,659,570 (GRCm39)	Y441H	probably benign	Het
Itsn1	A	G	16: 91,696,511 (GRCm39)	D38G	possibly damaging	Het
Kat6b	G	T	14: 21,719,489 (GRCm39)	E1280D	probably benign	Het
Kcnk10	T	A	12: 98,402,560 (GRCm39)	Y293F	possibly damaging	Het
Krt74	T	A	15: 101,669,398 (GRCm39)		noncoding transcript	Het
Lars1	T	G	18: 42,347,902 (GRCm39)	I974L	probably benign	Het
Limch1	A	G	5: 67,126,498 (GRCm39)	D42G	probably damaging	Het
Mau2	G	C	8: 70,495,082 (GRCm39)	T85R	probably damaging	Het
Mkrn3	A	G	7: 62,068,612 (GRCm39)	I393T	probably benign	Het
Mpl	A	C	4: 118,301,217 (GRCm39)	S541R	probably damaging	Het
Nfrkb	T	C	9: 31,321,564 (GRCm39)	S754P	possibly damaging	Het
Or4c125	A	G	2: 89,170,580 (GRCm39)	L22P	probably benign	Het
Or5bw2	T	C	7: 6,573,652 (GRCm39)	Y221H	possibly damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or8g18	T	A	9: 39,149,496 (GRCm39)	T75S	probably damaging	Het
P2rx7	A	T	5: 122,811,861 (GRCm39)	I391F	possibly damaging	Het
Pbrm1	T	A	14: 30,807,016 (GRCm39)		probably null	Het
Pcdh8	T	C	14: 80,007,516 (GRCm39)	D349G	probably damaging	Het
Pias1	A	G	9: 62,789,291 (GRCm39)	S639P	possibly damaging	Het
Pkhd1l1	A	T	15: 44,347,820 (GRCm39)	I232F	probably damaging	Het
Plxnc1	C	T	10: 94,673,797 (GRCm39)	R995Q	probably damaging	Het
Pnliprp2	T	A	19: 58,762,519 (GRCm39)	S375T	probably benign	Het
Prkar1b	C	T	5: 139,005,847 (GRCm39)	V313M	probably benign	Het
Prr35	T	C	17: 26,166,523 (GRCm39)	N338S	probably benign	Het
Ptpn13	T	C	5: 103,677,583 (GRCm39)	S734P	probably damaging	Het
Rdh1	T	C	10: 127,595,810 (GRCm39)	W2R	possibly damaging	Het
Rsph10b	A	T	5: 143,886,156 (GRCm39)	I285L	probably benign	Het
Rubcnl	T	C	14: 75,284,987 (GRCm39)	F502S	probably damaging	Het
Ryr2	T	A	13: 11,653,329 (GRCm39)	I3693F	probably damaging	Het
Ryr2	T	C	13: 11,814,747 (GRCm39)	Y675C	probably damaging	Het
Scaper	T	C	9: 55,593,207 (GRCm39)	T477A	probably benign	Het
Scn2a	G	T	2: 65,542,269 (GRCm39)	V791L	probably benign	Het
Sdk1	A	T	5: 142,117,820 (GRCm39)	T1573S	probably damaging	Het
Sema3c	A	T	5: 17,919,413 (GRCm39)	H483L	probably benign	Het
Sema6c	T	C	3: 95,076,002 (GRCm39)	S219P	probably damaging	Het
Slc10a5	T	G	3: 10,400,177 (GRCm39)	E161A	probably damaging	Het
Slc22a23	C	T	13: 34,528,366 (GRCm39)	G139S	possibly damaging	Het
Slc38a9	A	T	13: 112,865,730 (GRCm39)		probably null	Het
Taok1	A	C	11: 77,450,670 (GRCm39)	S367R	possibly damaging	Het
Tlr6	G	A	5: 65,112,203 (GRCm39)	Q235*	probably null	Het
Top2a	A	G	11: 98,887,665 (GRCm39)	V1281A	probably benign	Het
Tpgs1	T	C	10: 79,511,616 (GRCm39)	Y253H	probably damaging	Het
Tubgcp3	T	C	8: 12,703,462 (GRCm39)	T288A	probably benign	Het
Ubr4	A	G	4: 139,154,213 (GRCm39)	E2140G	probably benign	Het
Uso1	A	G	5: 92,321,878 (GRCm39)	Q257R	probably benign	Het
Zfp106	A	G	2: 120,362,677 (GRCm39)	V48A	probably damaging	Het
Zfp174	T	A	16: 3,666,118 (GRCm39)	S128T	possibly damaging	Het
Zscan26	T	A	13: 21,629,225 (GRCm39)	D426V	probably benign	Het

Other mutations in Slc34a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02422:Slc34a3	APN	2	25,122,275 (GRCm39)	missense	probably benign	0.01
IGL02885:Slc34a3	APN	2	25,121,069 (GRCm39)	missense	probably damaging	1.00
IGL03131:Slc34a3	APN	2	25,121,246 (GRCm39)	missense	probably benign
IGL03166:Slc34a3	APN	2	25,122,186 (GRCm39)	missense	probably damaging	0.99
IGL03278:Slc34a3	APN	2	25,122,059 (GRCm39)	missense	probably benign	0.01
PIT4544001:Slc34a3	UTSW	2	25,120,607 (GRCm39)	missense	probably benign	0.27
R0415:Slc34a3	UTSW	2	25,119,122 (GRCm39)	missense	probably benign
R0883:Slc34a3	UTSW	2	25,121,245 (GRCm39)	missense	probably benign
R2107:Slc34a3	UTSW	2	25,120,999 (GRCm39)	missense	probably damaging	0.99
R2329:Slc34a3	UTSW	2	25,119,422 (GRCm39)	missense	possibly damaging	0.95
R3108:Slc34a3	UTSW	2	25,119,257 (GRCm39)	missense	probably benign
R4637:Slc34a3	UTSW	2	25,119,473 (GRCm39)	missense	possibly damaging	0.92
R5008:Slc34a3	UTSW	2	25,120,854 (GRCm39)	missense	possibly damaging	0.62
R5341:Slc34a3	UTSW	2	25,120,671 (GRCm39)	missense	probably benign	0.00
R5623:Slc34a3	UTSW	2	25,123,312 (GRCm39)	splice site	probably null
R6602:Slc34a3	UTSW	2	25,119,221 (GRCm39)	missense	probably damaging	0.99
R7512:Slc34a3	UTSW	2	25,122,253 (GRCm39)	splice site	probably null
R7784:Slc34a3	UTSW	2	25,122,237 (GRCm39)	missense	probably damaging	1.00
R8072:Slc34a3	UTSW	2	25,119,289 (GRCm39)	missense	probably benign	0.01
R8730:Slc34a3	UTSW	2	25,122,057 (GRCm39)	missense	possibly damaging	0.80
R8762:Slc34a3	UTSW	2	25,121,003 (GRCm39)	missense	probably benign	0.03
R8880:Slc34a3	UTSW	2	25,119,267 (GRCm39)	missense	probably benign	0.03
Z1176:Slc34a3	UTSW	2	25,119,410 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGACTATGCTTTGCTGGGAAAGGG -3'
(R):5'- GGAGGAACAACCAACTTGTACTGCC -3'

Sequencing Primer
(F):5'- GCTGGGAAAGGGGAGGC -3'
(R):5'- CCTCAGCAGAGCTAGGATTG -3'

Posted On

2013-06-11