Mutagenetix > Incidental Mutation

Incidental Mutation 'R7512:Slc34a3'

585927

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

045585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R7512 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25118909-25124282 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 25122253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000006638 (fasta)

Gene Model

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

AlphaFold

Q80SU6

Predicted Effect

probably null
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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	T	11: 109,829,275 (GRCm39)	A1395T	probably benign	Het
Ank3	A	G	10: 69,826,691 (GRCm39)	K1787E		Het
Atg2a	C	T	19: 6,310,106 (GRCm39)	A1763V	probably damaging	Het
Bdp1	T	C	13: 100,187,457 (GRCm39)	I1637V	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Ccnt2	T	A	1: 127,730,031 (GRCm39)	S303T	possibly damaging	Het
Cdh3	C	T	8: 107,265,640 (GRCm39)	Q228*	probably null	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Dock2	A	C	11: 34,262,542 (GRCm39)	C938G	possibly damaging	Het
Dync1i1	G	T	6: 5,969,410 (GRCm39)	V412L	possibly damaging	Het
Eif1ad6	G	T	12: 87,668,751 (GRCm39)	E128*	probably null	Het
Entrep2	C	T	7: 64,805,918 (GRCm39)	A52T	probably benign	Het
Fam185a	G	A	5: 21,652,356 (GRCm39)		probably null	Het
Fcho1	A	G	8: 72,169,507 (GRCm39)	L133P	possibly damaging	Het
Galnt12	G	A	4: 47,108,406 (GRCm39)	R181H	possibly damaging	Het
Gen1	A	G	12: 11,310,977 (GRCm39)	V85A	possibly damaging	Het
Gm12185	A	T	11: 48,806,717 (GRCm39)	I158K	probably benign	Het
Gm5624	T	C	14: 44,799,312 (GRCm39)	R82G		Het
Grap2	A	C	15: 80,532,754 (GRCm39)	N307T	probably benign	Het
H6pd	A	G	4: 150,080,405 (GRCm39)	F147L	probably benign	Het
Haspin	A	T	11: 73,027,418 (GRCm39)	I557N	probably damaging	Het
Hectd4	A	T	5: 121,435,172 (GRCm39)	K961N	possibly damaging	Het
Helz2	A	G	2: 180,872,647 (GRCm39)	M2495T	probably benign	Het
Helz2	A	T	2: 180,877,393 (GRCm39)		probably null	Het
Impdh1	T	C	6: 29,207,168 (GRCm39)	I59V	probably benign	Het
Kcnn1	A	T	8: 71,307,293 (GRCm39)	L200Q	possibly damaging	Het
Kif5c	T	A	2: 49,590,977 (GRCm39)	H276Q	probably damaging	Het
Kntc1	T	C	5: 123,929,001 (GRCm39)	L1259P	probably damaging	Het
Krtap4-1	A	T	11: 99,518,859 (GRCm39)	C50*	probably null	Het
Lat2	T	A	5: 134,634,798 (GRCm39)	D114V	probably damaging	Het
Lrrc41	A	G	4: 115,950,191 (GRCm39)	T535A	possibly damaging	Het
Ly75	A	T	2: 60,164,907 (GRCm39)	V757D	probably damaging	Het
Masp1	C	A	16: 23,288,874 (GRCm39)	R642L	probably damaging	Het
Morn3	A	G	5: 123,175,343 (GRCm39)		probably null	Het
Mpl	A	T	4: 118,306,089 (GRCm39)	I384N		Het
Mtmr14	C	T	6: 113,245,652 (GRCm39)	Q409*	probably null	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Oit3	T	C	10: 59,274,716 (GRCm39)	Y28C	probably damaging	Het
Or2z8	T	A	8: 72,812,367 (GRCm39)	I281N	probably damaging	Het
Or4x12-ps1	A	G	2: 89,916,040 (GRCm39)	I255T	possibly damaging	Het
Or5ac22	T	A	16: 59,135,390 (GRCm39)	N127Y	probably damaging	Het
Pcdh15	T	C	10: 74,477,214 (GRCm39)	Y186H	possibly damaging	Het
Pcdhgb1	T	A	18: 37,815,418 (GRCm39)	D636E	probably damaging	Het
Pdgfra	A	T	5: 75,355,675 (GRCm39)	R1062*	probably null	Het
Pds5b	T	C	5: 150,711,807 (GRCm39)	F922L	probably damaging	Het
Pip5k1c	G	A	10: 81,150,953 (GRCm39)		probably null	Het
Ppp2r3d	T	C	9: 101,052,532 (GRCm39)	T226A	possibly damaging	Het
Ptprh	G	A	7: 4,574,780 (GRCm39)	T413I	possibly damaging	Het
Rora	C	A	9: 69,281,367 (GRCm39)	D382E	probably benign	Het
Sacs	T	A	14: 61,441,879 (GRCm39)	N1308K	probably benign	Het
Sgce	C	T	6: 4,707,192 (GRCm39)	D218N	possibly damaging	Het
Slit1	T	C	19: 41,589,074 (GRCm39)	Y1471C	probably damaging	Het
Smarca2	G	T	19: 26,661,209 (GRCm39)	V935L	possibly damaging	Het
Smchd1	T	C	17: 71,688,364 (GRCm39)	N1298S	possibly damaging	Het
Sort1	T	A	3: 108,233,323 (GRCm39)		probably null	Het
Spata13	T	C	14: 60,989,226 (GRCm39)	L964P	probably damaging	Het
Spata31h1	G	A	10: 82,128,469 (GRCm39)	L1514F	probably benign	Het
Trav7-6	C	A	14: 53,954,552 (GRCm39)	D47E	probably benign	Het
Ubap2l	A	G	3: 89,917,803 (GRCm39)	F864L	unknown	Het
Vmn2r102	C	T	17: 19,914,363 (GRCm39)	P643S	probably damaging	Het
Zfp112	T	A	7: 23,824,604 (GRCm39)	C195S	possibly damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	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
R0558:Slc34a3	UTSW	2	25,123,077 (GRCm39)	unclassified	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
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'- TGTAGGGGTGCCATTTCAGC -3'
(R):5'- TTCTCAAGGCATGTGGACTCC -3'

Sequencing Primer
(F):5'- AGCCATTCCTGCTCACCAG -3'
(R):5'- GGTGCTTTACAGCCTTGT -3'

Posted On

2019-10-18