Mutagenetix > Incidental Mutation

Incidental Mutation 'R7889:Slc20a2'

609215

Institutional Source

Beutler Lab

Gene Symbol

Slc20a2

Ensembl Gene

ENSMUSG00000037656

Gene Name

solute carrier family 20, member 2

Synonyms

Pit-2, PiT-2, MolPit2, Ram1, Ram-1

MMRRC Submission

045941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R7889 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

22966804-23059628 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23030417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 158 (S158P)

Ref Sequence

ENSEMBL: ENSMUSP00000065935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067786]

AlphaFold

Q80UP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000067786
AA Change: S158P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656
AA Change: S158P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:PHO4	24	638	1.6e-160	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inorganic phosphate transporter family. The encoded protein is a type 3 sodium-dependent phosphate symporter that plays an important role in phosphate homeostasis by mediating cellular phosphate uptake. The encoded protein also confers susceptibility to viral infection as a gamma-retroviral receptor. Mutations in this gene may play a role in familial idiopathic basal ganglia calcification. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit brain calcifications in the thalamus, basal ganglia and cerebral cortex, microgliosis, and a high inorganic phosphate concentration [Pi] in cerebrospinal fluid. [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
Afg2a	A	G	3: 37,632,959 (GRCm39)	D855G	probably benign	Het
Angptl3	C	T	4: 98,919,308 (GRCm39)	L23F	probably benign	Het
Art2a	C	T	7: 101,204,418 (GRCm39)	S40N	not run	Het
Ash1l	A	G	3: 88,873,345 (GRCm39)	T43A	probably benign	Het
Atp1a2	G	A	1: 172,105,631 (GRCm39)		probably null	Het
Azi2	A	G	9: 117,890,983 (GRCm39)	E336G	probably benign	Het
Cap2	A	G	13: 46,800,051 (GRCm39)	H419R	probably damaging	Het
Ccdc14	T	A	16: 34,544,206 (GRCm39)	S903T	probably damaging	Het
Cep72	A	T	13: 74,198,241 (GRCm39)	S380T	possibly damaging	Het
Clca3a2	C	A	3: 144,516,574 (GRCm39)	E341*	probably null	Het
Clcnkb	T	G	4: 141,137,915 (GRCm39)	I294L	probably benign	Het
Csnk2a1-ps3	G	A	1: 156,352,965 (GRCm39)	A389T	probably benign	Het
Cyp2d9	T	A	15: 82,340,027 (GRCm39)	M350K	probably damaging	Het
Dhx40	T	G	11: 86,689,793 (GRCm39)	I266L	probably benign	Het
Dnah5	G	T	15: 28,448,560 (GRCm39)	E4208*	probably null	Het
Dync2i1	T	A	12: 116,219,559 (GRCm39)	K128*	probably null	Het
Ephb2	T	C	4: 136,498,353 (GRCm39)	N242S	probably damaging	Het
Fam13b	A	T	18: 34,590,744 (GRCm39)	F478Y	probably benign	Het
Fastkd2	C	G	1: 63,774,619 (GRCm39)		probably null	Het
Fbxo40	T	A	16: 36,790,012 (GRCm39)	D366V	probably damaging	Het
Fhod3	A	T	18: 24,903,551 (GRCm39)	K95M	probably damaging	Het
Foxo3	T	A	10: 42,151,023 (GRCm39)	Q136L	probably benign	Het
Gadl1	A	T	9: 115,783,883 (GRCm39)	Q236L	possibly damaging	Het
Galnt13	A	G	2: 55,002,873 (GRCm39)	D560G	probably benign	Het
Ghsr	A	G	3: 27,426,315 (GRCm39)	S124G	probably benign	Het
Gkn2	A	G	6: 87,355,268 (GRCm39)		probably null	Het
Glyctk	T	A	9: 106,033,638 (GRCm39)	R68W	unknown	Het
Gm5157	G	A	7: 20,918,641 (GRCm39)	P301S	unknown	Het
Hdc	A	T	2: 126,458,130 (GRCm39)	I64N	probably damaging	Het
Helq	A	T	5: 100,940,427 (GRCm39)		probably null	Het
Ighv1-43	T	C	12: 114,909,583 (GRCm39)	Y113C	probably damaging	Het
Ipo9	T	C	1: 135,334,591 (GRCm39)	T273A	probably benign	Het
Itga4	G	A	2: 79,146,389 (GRCm39)	V774I	probably benign	Het
Itpr3	T	C	17: 27,335,751 (GRCm39)	L2287P	probably damaging	Het
Llgl1	T	A	11: 60,598,138 (GRCm39)	I394N	probably damaging	Het
Mta1	G	A	12: 113,095,308 (GRCm39)	R487H	probably benign	Het
Neb	T	C	2: 52,037,681 (GRCm39)	D7049G	probably benign	Het
Nlrp4f	G	A	13: 65,342,832 (GRCm39)	S271F	probably damaging	Het
Noxo1	A	G	17: 24,918,356 (GRCm39)	D172G	probably damaging	Het
Nup155	T	A	15: 8,150,991 (GRCm39)	V347E	probably damaging	Het
Oaf	G	T	9: 43,133,968 (GRCm39)	A251E	possibly damaging	Het
Pds5b	T	A	5: 150,715,637 (GRCm39)	F1039I	probably damaging	Het
Pla2g12b	T	A	10: 59,257,062 (GRCm39)		probably null	Het
Prmt3	A	G	7: 49,437,049 (GRCm39)	D208G	possibly damaging	Het
Ptcd3	G	A	6: 71,865,592 (GRCm39)	T441M	probably damaging	Het
Rabl6	A	G	2: 25,474,786 (GRCm39)		probably null	Het
Shtn1	T	A	19: 58,992,328 (GRCm39)	I417F	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Spef2	T	C	15: 9,717,649 (GRCm39)	Y232C	probably damaging	Het
Stard9	C	T	2: 120,534,942 (GRCm39)	T3733I	probably benign	Het
Thrap3	A	T	4: 126,071,855 (GRCm39)	F512L	probably benign	Het
Tmem150c	A	T	5: 100,240,963 (GRCm39)	I30K	probably damaging	Het
Tnnt1	C	T	7: 4,511,582 (GRCm39)	A168T	probably damaging	Het
Trak2	A	G	1: 58,957,983 (GRCm39)	L308P	probably damaging	Het
Trp53i11	T	C	2: 93,029,244 (GRCm39)	L81P	probably damaging	Het
Usp16	T	C	16: 87,271,472 (GRCm39)	Y344H	probably benign	Het
Vinac1	T	C	2: 128,878,914 (GRCm39)	E1004G	unknown	Het
Xrcc5	G	T	1: 72,395,985 (GRCm39)	V593L	probably benign	Het
Zcchc14	A	T	8: 122,331,634 (GRCm39)	H576Q	unknown	Het
Zfp616	T	A	11: 73,976,271 (GRCm39)	C847S	probably damaging	Het
Zfp626	A	T	7: 27,518,924 (GRCm39)	Y635F	probably benign	Het
Zfp799	G	A	17: 33,038,473 (GRCm39)	R598*	probably null	Het
Zfp831	A	G	2: 174,487,097 (GRCm39)	K591E	possibly damaging	Het

Other mutations in Slc20a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:Slc20a2	APN	8	23,025,573 (GRCm39)	missense	possibly damaging	0.66
IGL03248:Slc20a2	APN	8	23,048,999 (GRCm39)	missense	probably benign	0.05
PIT4453001:Slc20a2	UTSW	8	23,025,398 (GRCm39)	missense	probably damaging	1.00
R0015:Slc20a2	UTSW	8	23,025,361 (GRCm39)	missense	probably damaging	1.00
R0015:Slc20a2	UTSW	8	23,025,361 (GRCm39)	missense	probably damaging	1.00
R0385:Slc20a2	UTSW	8	23,058,409 (GRCm39)	missense	probably benign	0.10
R1679:Slc20a2	UTSW	8	23,028,846 (GRCm39)	missense	possibly damaging	0.87
R1737:Slc20a2	UTSW	8	23,035,582 (GRCm39)	missense	probably damaging	1.00
R1966:Slc20a2	UTSW	8	23,035,553 (GRCm39)	missense	probably damaging	1.00
R2217:Slc20a2	UTSW	8	23,050,532 (GRCm39)	missense	probably benign	0.12
R3821:Slc20a2	UTSW	8	23,028,918 (GRCm39)	missense	probably benign
R3878:Slc20a2	UTSW	8	23,058,399 (GRCm39)	missense	possibly damaging	0.91
R4284:Slc20a2	UTSW	8	23,051,365 (GRCm39)	missense	probably benign
R4285:Slc20a2	UTSW	8	23,051,365 (GRCm39)	missense	probably benign
R4915:Slc20a2	UTSW	8	23,051,020 (GRCm39)	missense	probably damaging	1.00
R4916:Slc20a2	UTSW	8	23,051,020 (GRCm39)	missense	probably damaging	1.00
R4918:Slc20a2	UTSW	8	23,051,020 (GRCm39)	missense	probably damaging	1.00
R4938:Slc20a2	UTSW	8	23,051,221 (GRCm39)	missense	possibly damaging	0.69
R6374:Slc20a2	UTSW	8	23,055,668 (GRCm39)	missense	possibly damaging	0.94
R6894:Slc20a2	UTSW	8	23,050,609 (GRCm39)	missense	possibly damaging	0.70
R7369:Slc20a2	UTSW	8	23,051,416 (GRCm39)	missense	probably benign	0.08
R7756:Slc20a2	UTSW	8	23,025,508 (GRCm39)	missense	probably damaging	1.00
R8971:Slc20a2	UTSW	8	23,030,396 (GRCm39)	missense	probably damaging	1.00
R9110:Slc20a2	UTSW	8	23,025,457 (GRCm39)	missense	probably damaging	0.98
R9145:Slc20a2	UTSW	8	23,030,447 (GRCm39)	missense	probably benign	0.00
R9433:Slc20a2	UTSW	8	23,051,211 (GRCm39)	nonsense	probably null
R9649:Slc20a2	UTSW	8	23,028,900 (GRCm39)	missense	probably damaging	1.00
R9778:Slc20a2	UTSW	8	23,051,407 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACTCTCGGTGGATGGGAAC -3'
(R):5'- CCTGGCAATGAAAGTACAGGTC -3'

Sequencing Primer
(F):5'- ACAACCAGCCGTGTGTGAC -3'
(R):5'- TCTCCTGCCGAGCCACTG -3'

Posted On

2019-12-20