Mutagenetix > Incidental Mutation

Incidental Mutation 'R1838:Slc34a2'

205475

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

039865-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1838 (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 53215778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 63 (H63L)

Ref Sequence

ENSEMBL: ENSMUSP00000130692 (fasta)

Gene Model

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

AlphaFold

Q9DBP0

Predicted Effect

probably benign
Transcript: ENSMUST00000094787
AA Change: H63L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092380
Gene: ENSMUSG00000029188
AA Change: H63L

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: H63L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130692
Gene: ENSMUSG00000029188
AA Change: H63L

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

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.4%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,690 (GRCm39)	D22G	unknown	Het
Abca4	G	A	3: 121,921,954 (GRCm39)	R1170K	probably benign	Het
Adam28	T	C	14: 68,876,659 (GRCm39)	N197S	possibly damaging	Het
Adamtsl3	G	T	7: 82,142,581 (GRCm39)	R267L	probably damaging	Het
Adgrb2	A	T	4: 129,904,024 (GRCm39)	T717S	probably benign	Het
Adgrb3	A	G	1: 25,123,351 (GRCm39)	S1417P	probably damaging	Het
Afg3l2	A	T	18: 67,547,242 (GRCm39)	V561D	probably damaging	Het
Atp13a2	T	A	4: 140,721,643 (GRCm39)	Y244*	probably null	Het
BB014433	C	G	8: 15,092,629 (GRCm39)	V75L	unknown	Het
Btnl6	T	A	17: 34,734,516 (GRCm39)	D82V	probably damaging	Het
Ccdc178	A	G	18: 22,200,695 (GRCm39)	Y421H	probably damaging	Het
Cdc123	A	T	2: 5,799,702 (GRCm39)		probably null	Het
Cdhr5	C	T	7: 140,852,516 (GRCm39)	V367I	possibly damaging	Het
Celsr3	A	G	9: 108,707,105 (GRCm39)	H1196R	probably benign	Het
Chd8	T	C	14: 52,442,340 (GRCm39)	S2077G	probably benign	Het
Col6a5	G	A	9: 105,742,032 (GRCm39)	H2296Y	probably benign	Het
Ctnna2	T	C	6: 77,822,525 (GRCm39)	D26G	probably damaging	Het
Ctr9	G	T	7: 110,651,510 (GRCm39)	R910L	possibly damaging	Het
Cyp2t4	G	T	7: 26,857,841 (GRCm39)	R455L	possibly damaging	Het
Cyp3a13	A	T	5: 137,909,894 (GRCm39)		probably null	Het
Dennd3	T	C	15: 73,436,949 (GRCm39)	S1059P	probably damaging	Het
Dennd4c	A	G	4: 86,743,415 (GRCm39)	T1135A	probably benign	Het
Dnah7b	T	C	1: 46,155,337 (GRCm39)	V295A	probably benign	Het
Dnah7b	C	A	1: 46,316,265 (GRCm39)	T3126K	probably damaging	Het
Ehbp1l1	C	T	19: 5,767,719 (GRCm39)	E1195K	probably benign	Het
Exoc6b	T	A	6: 84,830,660 (GRCm39)	I447L	probably benign	Het
Glt1d1	G	A	5: 127,755,193 (GRCm39)	V202I	probably benign	Het
Grk1	T	C	8: 13,466,155 (GRCm39)	V533A	possibly damaging	Het
Gsdma3	C	T	11: 98,520,684 (GRCm39)	A105V	probably benign	Het
Gzma	T	A	13: 113,232,518 (GRCm39)	I131F	probably damaging	Het
Helq	A	T	5: 100,919,745 (GRCm39)	L35*	probably null	Het
Hnrnpll	T	C	17: 80,346,052 (GRCm39)	N403S	probably damaging	Het
Hsf5	A	G	11: 87,526,881 (GRCm39)	K518E	probably benign	Het
Ighe	T	A	12: 113,235,470 (GRCm39)	H258L	unknown	Het
Il6ra	T	C	3: 89,797,579 (GRCm39)	D96G	probably benign	Het
Ints13	C	T	6: 146,468,109 (GRCm39)	A129T	possibly damaging	Het
Ipo7	T	A	7: 109,641,316 (GRCm39)	H345Q	probably damaging	Het
Kcna2	A	T	3: 107,011,828 (GRCm39)	E136D	probably benign	Het
Kif5a	G	A	10: 127,072,684 (GRCm39)	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,694,381 (GRCm39)	P189T	probably benign	Het
Krtap4-9	A	G	11: 99,676,222 (GRCm39)		probably benign	Het
Lamc3	T	C	2: 31,815,594 (GRCm39)	S1097P	possibly damaging	Het
Ldlrad2	A	T	4: 137,299,481 (GRCm39)	N114K	probably benign	Het
Lrfn1	A	T	7: 28,159,193 (GRCm39)	I371L	probably damaging	Het
Lrwd1	A	G	5: 136,161,242 (GRCm39)	V240A	probably benign	Het
Lypd1	A	T	1: 125,801,108 (GRCm39)		probably benign	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Man2c1	A	G	9: 57,044,621 (GRCm39)	N354S	probably benign	Het
Map3k13	T	C	16: 21,732,939 (GRCm39)	Y514H	possibly damaging	Het
Med15	T	C	16: 17,471,426 (GRCm39)	D577G	probably benign	Het
Mroh4	A	T	15: 74,487,962 (GRCm39)	M320K	probably benign	Het
Ms4a10	T	A	19: 10,941,411 (GRCm39)	D186V	possibly damaging	Het
Myh7	T	C	14: 55,210,637 (GRCm39)	N1725S	possibly damaging	Het
Myo5c	A	T	9: 75,180,835 (GRCm39)	R741S	probably damaging	Het
Naa80	G	A	9: 107,460,216 (GRCm39)	R37H	possibly damaging	Het
Naip6	T	C	13: 100,452,644 (GRCm39)	D139G	probably damaging	Het
Or10s1	A	T	9: 39,985,605 (GRCm39)	M5L	probably benign	Het
Or2p2	A	T	13: 21,256,595 (GRCm39)	L292*	probably null	Het
Or4a79	A	T	2: 89,552,053 (GRCm39)	M134K	probably damaging	Het
Or8g2	A	T	9: 39,821,137 (GRCm39)	I13F	possibly damaging	Het
Pcdhb3	A	G	18: 37,434,370 (GRCm39)	D112G	probably benign	Het
Pdpr	C	A	8: 111,861,366 (GRCm39)	P787T	probably damaging	Het
Pgm3	C	T	9: 86,451,286 (GRCm39)	V123I	probably benign	Het
Pms1	A	C	1: 53,231,257 (GRCm39)		probably null	Het
Prl2b1	A	G	13: 27,572,549 (GRCm39)	S14P	possibly damaging	Het
Prune2	T	A	19: 17,177,242 (GRCm39)	W212R	probably damaging	Het
Rabgef1	A	G	5: 130,241,862 (GRCm39)	E422G	probably benign	Het
Ralyl	A	G	3: 14,208,472 (GRCm39)	E204G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rbpms2	TGCCGCCGCC	TGCCGCCGCCGCC	9: 65,558,962 (GRCm39)		probably benign	Het
Rit1	C	G	3: 88,636,477 (GRCm39)	T127S	probably damaging	Het
Slc16a7	C	T	10: 125,067,067 (GRCm39)	V191M	probably damaging	Het
Smpd4	G	A	16: 17,460,166 (GRCm39)		probably null	Het
Sp3	A	G	2: 72,768,520 (GRCm39)	S748P	possibly damaging	Het
Spata31d1b	G	A	13: 59,863,671 (GRCm39)	C273Y	probably benign	Het
Spata31d1b	G	A	13: 59,865,279 (GRCm39)	R809K	probably benign	Het
Tmco5	A	T	2: 116,711,360 (GRCm39)	E90V	probably damaging	Het
Tnxb	A	T	17: 34,897,884 (GRCm39)	D844V	probably damaging	Het
Tpi1	T	C	6: 124,791,115 (GRCm39)	T41A	probably benign	Het
Ttn	T	C	2: 76,557,536 (GRCm39)	I29853V	probably damaging	Het
Vmn2r26	C	T	6: 124,001,730 (GRCm39)	T5I	probably benign	Het
Wdr95	A	G	5: 149,522,831 (GRCm39)	D663G	probably benign	Het
Zbtb39	T	C	10: 127,578,569 (GRCm39)	F381S	probably damaging	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp646	T	A	7: 127,478,911 (GRCm39)	Y363N	probably damaging	Het
Zfp712	A	C	13: 67,190,111 (GRCm39)	C139G	probably damaging	Het
Zfp958	A	G	8: 4,678,590 (GRCm39)	H205R	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	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
R1655:Slc34a2	UTSW	5	53,226,761 (GRCm39)	missense	probably benign	0.00
R1753:Slc34a2	UTSW	5	53,218,733 (GRCm39)	missense	probably benign	0.37
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'- ACCCCGGTAAATTCATCGAGG -3'
(R):5'- GTTACTCTGCCTCAGAACCC -3'

Sequencing Primer
(F):5'- TAAATTCATCGAGGGGGCCTC -3'
(R):5'- TGCCTCAGAACCCTGGTAC -3'

Posted On

2014-06-23