Mutagenetix > Incidental Mutation

Incidental Mutation 'R9110:Slc20a2'

692201

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

068919-MU

Accession Numbers

Essential gene?

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

Stock #

R9110 (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 23025457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 53 (I53T)

Ref Sequence

ENSEMBL: ENSMUSP00000065935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067786] [ENSMUST00000209305] [ENSMUST00000210854]

AlphaFold

Q80UP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000067786
AA Change: I53T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656
AA Change: I53T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209305

Predicted Effect

probably benign
Transcript: ENSMUST00000210854

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,831,615 (GRCm39)		probably benign	Het
Adam20	A	G	8: 41,248,907 (GRCm39)	D339G	probably benign	Het
Adam3	T	A	8: 25,193,821 (GRCm39)	Y397F	probably benign	Het
Ago3	C	T	4: 126,248,829 (GRCm39)	G574E	probably damaging	Het
Angptl4	T	A	17: 33,999,800 (GRCm39)	Y133F	probably benign	Het
Ankrd61	T	C	5: 143,831,759 (GRCm39)	D15G	possibly damaging	Het
Arfgap1	T	A	2: 180,615,330 (GRCm39)	S174T	possibly damaging	Het
Arhgap12	T	C	18: 6,034,539 (GRCm39)	D549G	possibly damaging	Het
Arhgap25	T	C	6: 87,453,254 (GRCm39)	E182G	probably benign	Het
Astn1	T	G	1: 158,496,327 (GRCm39)	I1127S	probably benign	Het
Bivm	T	C	1: 44,168,526 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,945,258 (GRCm39)	S952T	possibly damaging	Het
Cfap44	T	A	16: 44,255,923 (GRCm39)	L1005Q	probably damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cog1	T	C	11: 113,544,807 (GRCm39)	F330L	possibly damaging	Het
Dnah2	T	G	11: 69,435,208 (GRCm39)	D54A	probably benign	Het
Dntt	A	T	19: 41,044,197 (GRCm39)		probably null	Het
Eml2	A	G	7: 18,925,620 (GRCm39)	S240G	probably benign	Het
Fam174b	G	A	7: 73,416,371 (GRCm39)		probably benign	Het
Fancd2	T	C	6: 113,512,762 (GRCm39)	S33P	possibly damaging	Het
Fars2	A	T	13: 36,430,402 (GRCm39)	M277L	probably benign	Het
Ifnar1	G	A	16: 91,302,150 (GRCm39)	G542S	probably benign	Het
Itih5	T	C	2: 10,191,831 (GRCm39)	V122A	probably benign	Het
Jph3	A	G	8: 122,516,201 (GRCm39)	I740V	probably benign	Het
Krtap16-1	C	T	11: 99,877,386 (GRCm39)	C6Y	probably benign	Het
Mettl25b	G	A	3: 87,834,978 (GRCm39)	H57Y	probably benign	Het
Mpeg1	A	T	19: 12,440,014 (GRCm39)	T491S	probably benign	Het
Mroh8	T	A	2: 157,055,605 (GRCm39)	I998L	possibly damaging	Het
Nrxn1	G	A	17: 90,869,233 (GRCm39)	Q124*	probably null	Het
Nup188	T	A	2: 30,222,461 (GRCm39)	S1028T	possibly damaging	Het
Nxf1	A	T	19: 8,745,118 (GRCm39)	H456L	probably damaging	Het
Or2aj6	T	A	16: 19,443,743 (GRCm39)	I36F	possibly damaging	Het
Or2n1d	C	A	17: 38,646,434 (GRCm39)	P129T	probably damaging	Het
Or5af2	T	A	11: 58,707,959 (GRCm39)	S42T	possibly damaging	Het
Or5w19	T	A	2: 87,698,543 (GRCm39)	D69E	probably damaging	Het
Or6c66	T	A	10: 129,461,820 (GRCm39)	I37F	possibly damaging	Het
Otx2	T	C	14: 48,896,227 (GRCm39)	N277S	probably damaging	Het
Pax4	T	C	6: 28,445,201 (GRCm39)	N158S	probably benign	Het
Pgm2	T	G	5: 64,261,159 (GRCm39)	S218A	probably benign	Het
Plb1	T	C	5: 32,521,402 (GRCm39)	S1418P	probably benign	Het
Prkd3	T	A	17: 79,292,751 (GRCm39)	D107V	probably damaging	Het
Prl2a1	A	G	13: 27,992,398 (GRCm39)	E174G	probably benign	Het
Prr7	C	T	13: 55,620,574 (GRCm39)	P194L	probably damaging	Het
Psmd2	T	C	16: 20,470,994 (GRCm39)	S46P	probably damaging	Het
Ptbp2	C	T	3: 119,541,258 (GRCm39)	A231T	possibly damaging	Het
Rae1	A	G	2: 172,854,016 (GRCm39)	T265A	probably benign	Het
Sct	T	C	7: 140,859,007 (GRCm39)	E2G	unknown	Het
Sec14l3	T	G	11: 4,015,007 (GRCm39)		probably null	Het
Sfxn3	T	A	19: 45,038,727 (GRCm39)	N131K	probably damaging	Het
Slc18a2	A	T	19: 59,282,326 (GRCm39)	D511V	probably benign	Het
Smad4	T	C	18: 73,782,941 (GRCm39)	D331G	probably damaging	Het
Srms	C	T	2: 180,848,050 (GRCm39)	R485H		Het
Szt2	C	A	4: 118,242,630 (GRCm39)	A1486S	possibly damaging	Het
Tmem87b	C	T	2: 128,684,615 (GRCm39)	Q459*	probably null	Het
Vdr	A	T	15: 97,782,753 (GRCm39)	I23N	probably damaging	Het
Vmn1r204	T	C	13: 22,740,564 (GRCm39)	V65A	possibly damaging	Het
Vps33b	A	G	7: 79,939,743 (GRCm39)	D498G	probably benign	Het
Zfp442	T	A	2: 150,250,093 (GRCm39)	Y603F	probably benign	Het
Zfp853	T	A	5: 143,275,320 (GRCm39)	Q115L	unknown	Het
Zmiz2	C	A	11: 6,348,271 (GRCm39)	Q303K	probably benign	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
R7889:Slc20a2	UTSW	8	23,030,417 (GRCm39)	missense	probably damaging	1.00
R8971:Slc20a2	UTSW	8	23,030,396 (GRCm39)	missense	probably damaging	1.00
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'- TCCCGAAGTTAGCAACCTCAG -3'
(R):5'- TGCTATGCGTGTACACACAAG -3'

Sequencing Primer
(F):5'- CCCGAAGTTAGCAACCTCAGATTTTG -3'
(R):5'- GTGCATACACGTCCCACTG -3'

Posted On

2021-12-30