Mutagenetix > Incidental Mutation

Incidental Mutation 'R1753:Slc34a2'

193725

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

039785-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1753 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53206695-53229006 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53218733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 184 (I184F)

Ref Sequence

ENSEMBL: ENSMUSP00000092380 (fasta)

Gene Model

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

AlphaFold

Q9DBP0

Predicted Effect

probably benign
Transcript: ENSMUST00000094787
AA Change: I184F

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: I184F

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

probably benign
Transcript: ENSMUST00000170523
AA Change: I184F

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000130692
Gene: ENSMUSG00000029188
AA Change: I184F

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,864,542 (GRCm39)	F409I	probably benign	Het
Adamts19	A	C	18: 59,140,444 (GRCm39)	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,696,240 (GRCm39)	S306G	probably damaging	Het
Adamts8	T	G	9: 30,865,910 (GRCm39)	I486S	probably benign	Het
Adgrg5	T	C	8: 95,668,680 (GRCm39)	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,627,134 (GRCm39)	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241 (GRCm39)		probably null	Het
Arhgap31	A	G	16: 38,421,974 (GRCm39)	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,133,992 (GRCm39)	R10G	possibly damaging	Het
Cacna2d1	A	G	5: 16,507,352 (GRCm39)	E367G	possibly damaging	Het
Ccdc81	C	T	7: 89,515,769 (GRCm39)	E637K	probably benign	Het
Cd2	A	T	3: 101,194,815 (GRCm39)	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,814,688 (GRCm39)	Y157*	probably null	Het
Celsr3	G	T	9: 108,709,056 (GRCm39)	V1301F	probably damaging	Het
Cep164	C	T	9: 45,704,235 (GRCm39)	G961S	probably damaging	Het
Cep290	T	C	10: 100,349,843 (GRCm39)	V630A	probably benign	Het
Chd5	C	T	4: 152,463,272 (GRCm39)	S1451F	probably damaging	Het
Cldn23	A	C	8: 36,293,140 (GRCm39)	L116R	possibly damaging	Het
Cngb1	A	T	8: 96,024,401 (GRCm39)		probably benign	Het
Cpb1	G	T	3: 20,320,405 (GRCm39)	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,078,918 (GRCm39)	F261S	probably damaging	Het
Crlf3	A	C	11: 79,948,698 (GRCm39)	V249G	probably damaging	Het
Csmd1	A	T	8: 16,207,134 (GRCm39)	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,061,085 (GRCm39)	P207Q	possibly damaging	Het
Cym	A	C	3: 107,120,741 (GRCm39)	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,009,669 (GRCm39)		probably null	Het
Dlx6	C	T	6: 6,863,665 (GRCm39)	Q96*	probably null	Het
Dnah7b	T	C	1: 46,361,495 (GRCm39)	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,923,342 (GRCm39)	M181L	possibly damaging	Het
Duox1	T	A	2: 122,163,910 (GRCm39)	M859K	probably damaging	Het
Eif2b4	A	T	5: 31,350,284 (GRCm39)	S13T	probably benign	Het
Ercc6	T	C	14: 32,298,956 (GRCm39)	V1448A	probably benign	Het
Esp24	A	G	17: 39,350,893 (GRCm39)	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,837,969 (GRCm39)	M338K	probably benign	Het
Fbxl9	A	T	8: 106,039,824 (GRCm39)	V517E	probably damaging	Het
Fgfbp1	A	C	5: 44,137,265 (GRCm39)	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,868,338 (GRCm39)	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,237,404 (GRCm39)	C372W	probably damaging	Het
Grn	T	G	11: 102,324,093 (GRCm39)	C61G	probably damaging	Het
Herc1	T	G	9: 66,376,292 (GRCm39)	C3371G	probably damaging	Het
Herc1	T	C	9: 66,409,366 (GRCm39)		probably null	Het
Hmcn1	C	T	1: 150,462,219 (GRCm39)	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,347,461 (GRCm39)	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,571,260 (GRCm39)	H399L	probably benign	Het
Irx3	G	A	8: 92,527,362 (GRCm39)	P114L	probably damaging	Het
Kat6a	T	A	8: 23,425,813 (GRCm39)	D1119E	probably benign	Het
Kmt2d	G	T	15: 98,741,363 (GRCm39)		probably benign	Het
Kng1	A	T	16: 22,897,869 (GRCm39)	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,326,833 (GRCm39)	Q1746L	possibly damaging	Het
Lrrc63	A	T	14: 75,323,784 (GRCm39)		probably null	Het
Mad2l1	T	A	6: 66,516,797 (GRCm39)	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,750,417 (GRCm39)	M978T	probably benign	Het
Mon1a	A	C	9: 107,778,562 (GRCm39)	N262T	probably damaging	Het
Mpo	A	G	11: 87,686,707 (GRCm39)	N85D	probably benign	Het
Mpp4	T	C	1: 59,183,969 (GRCm39)	D244G	probably null	Het
Mstn	A	G	1: 53,105,717 (GRCm39)	Y353C	probably damaging	Het
Mx1	T	A	16: 97,255,358 (GRCm39)	N232Y	probably damaging	Het
Mycs	T	C	X: 5,380,157 (GRCm39)	R308G	probably benign	Het
Myh11	A	T	16: 14,095,734 (GRCm39)	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,410,392 (GRCm39)	Q169L	probably null	Het
Nr5a1	G	T	2: 38,598,431 (GRCm39)	T122N	possibly damaging	Het
Nras	A	G	3: 102,966,295 (GRCm39)	T20A	probably damaging	Het
Obp2b	T	A	2: 25,628,652 (GRCm39)		probably null	Het
Or1l4	A	G	2: 37,091,439 (GRCm39)	Y62C	probably damaging	Het
Or51g2	T	C	7: 102,622,263 (GRCm39)	N312S	probably benign	Het
Or5aq6	T	C	2: 86,923,571 (GRCm39)	T57A	probably damaging	Het
Or5w18	T	A	2: 87,633,106 (GRCm39)	F124L	probably benign	Het
Or9s14	G	A	1: 92,536,122 (GRCm39)	V188M	probably benign	Het
Pcdh17	A	T	14: 84,715,094 (GRCm39)	T920S	probably benign	Het
Pcdh9	T	C	14: 94,124,661 (GRCm39)	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,569,724 (GRCm39)	T290I	probably damaging	Het
Pde6b	C	A	5: 108,536,557 (GRCm39)	C84*	probably null	Het
Pex1	A	T	5: 3,680,044 (GRCm39)	N914I	probably damaging	Het
Pign	A	G	1: 105,517,042 (GRCm39)	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,604,129 (GRCm39)	D1187A	possibly damaging	Het
Ppip5k1	T	C	2: 121,173,112 (GRCm39)	K489E	probably damaging	Het
Prob1	T	C	18: 35,786,305 (GRCm39)	T650A	possibly damaging	Het
Radil	T	C	5: 142,481,091 (GRCm39)	Y572C	probably damaging	Het
Rapgef2	A	G	3: 78,996,098 (GRCm39)	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,510,386 (GRCm39)		probably null	Het
Rnaset2b	G	A	17: 7,248,506 (GRCm39)		probably null	Het
S1pr1	A	G	3: 115,505,587 (GRCm39)	S336P	probably benign	Het
Slc24a5	A	G	2: 124,925,115 (GRCm39)	E252G	possibly damaging	Het
Slc35a3	A	G	3: 116,471,597 (GRCm39)	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,723,976 (GRCm39)	H211R	probably damaging	Het
Slu7	A	G	11: 43,330,095 (GRCm39)	N174S	probably benign	Het
Smarcd3	A	T	5: 24,800,820 (GRCm39)	Y131*	probably null	Het
Syne1	A	G	10: 5,317,621 (GRCm39)	M491T	probably benign	Het
Tars1	G	A	15: 11,394,329 (GRCm39)	Q103*	probably null	Het
Tmem132d	C	A	5: 127,866,919 (GRCm39)	E660D	probably benign	Het
Ttn	T	C	2: 76,575,387 (GRCm39)	T16842A	probably damaging	Het
Ttn	T	C	2: 76,643,316 (GRCm39)	E13201G	probably damaging	Het
Ttn	T	A	2: 76,582,605 (GRCm39)	M22763L	probably benign	Het
Ubp1	A	T	9: 113,785,037 (GRCm39)	I117L	possibly damaging	Het
Usp24	T	A	4: 106,234,756 (GRCm39)	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,453,622 (GRCm39)	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,577,669 (GRCm39)	Q290*	probably null	Het
Vnn3	T	C	10: 23,741,718 (GRCm39)	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,189,945 (GRCm39)	T46A	probably damaging	Het
Wdr48	G	T	9: 119,753,313 (GRCm39)	E625*	probably null	Het
Wdr6	C	T	9: 108,452,363 (GRCm39)	V507I	probably damaging	Het
Zp2	A	T	7: 119,737,328 (GRCm39)	W287R	probably benign	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
R1655:Slc34a2	UTSW	5	53,226,761 (GRCm39)	missense	probably benign	0.00
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'- GGGGCTCAGCCATTCCTTTAATCAC -3'
(R):5'- CGCTTGCCTGCATGACTGTGTAATC -3'

Sequencing Primer
(F):5'- TCCTGTGAGATGGGAGTACCAG -3'
(R):5'- GATTCCCAACACTGGTTGGAC -3'

Posted On

2014-05-23