Mutagenetix > Incidental Mutation

Incidental Mutation 'R0015:Slc20a2'

64899

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

038310-MU

Accession Numbers

Essential gene?

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

Stock #

R0015 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

22966804-23059628 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23025361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 21 (A21E)

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: A21E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656
AA Change: A21E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000209305
AA Change: A21E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209347

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210388

Predicted Effect

probably benign
Transcript: ENSMUST00000210854

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.2%

Validation Efficiency

97% (71/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130050O07Rik	A	G	1: 137,856,394 (GRCm39)	Y23C	unknown	Het
Adcy3	G	A	12: 4,245,260 (GRCm39)		probably null	Het
Aldh6a1	G	A	12: 84,488,554 (GRCm39)	L86F	probably damaging	Het
Arl10	G	T	13: 54,723,770 (GRCm39)		probably benign	Het
Armc3	A	G	2: 19,301,132 (GRCm39)		probably null	Het
Astn2	T	G	4: 66,184,619 (GRCm39)		probably null	Het
Cacna1d	G	A	14: 29,836,928 (GRCm39)	T804I	probably benign	Het
Ccny	A	C	18: 9,316,682 (GRCm39)		probably benign	Het
Cdh5	C	T	8: 104,867,559 (GRCm39)	T612I	probably benign	Het
Cfap58	A	G	19: 48,017,539 (GRCm39)	M800V	probably benign	Het
Clrn1	A	T	3: 58,753,848 (GRCm39)	I171K	probably damaging	Het
Cnp	T	A	11: 100,469,734 (GRCm39)		probably null	Het
Col12a1	T	C	9: 79,558,667 (GRCm39)	T1933A	probably damaging	Het
Cplane1	G	A	15: 8,215,668 (GRCm39)	R408H	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666 (GRCm39)	S660G	probably benign	Het
Dync1i2	C	A	2: 71,044,828 (GRCm39)	R13S	probably damaging	Het
Eps8l1	A	T	7: 4,480,556 (GRCm39)		probably benign	Het
Espn	T	C	4: 152,223,609 (GRCm39)	T188A	possibly damaging	Het
F2	T	C	2: 91,460,952 (GRCm39)	E260G	probably benign	Het
Fat4	T	A	3: 39,036,652 (GRCm39)	S3435T	probably damaging	Het
Fchsd1	A	G	18: 38,096,012 (GRCm39)	C533R	probably benign	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Gls2	T	G	10: 128,045,219 (GRCm39)	L572R	probably damaging	Het
Gm20939	A	T	17: 95,184,196 (GRCm39)	E281D	probably benign	Het
Gpr35	T	G	1: 92,910,954 (GRCm39)	L222W	probably damaging	Het
Hsf5	C	A	11: 87,548,161 (GRCm39)	H615N	probably benign	Het
Id2	C	T	12: 25,145,802 (GRCm39)	D70N	probably damaging	Het
Ints2	T	C	11: 86,140,113 (GRCm39)	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,570,080 (GRCm39)	D631A	probably damaging	Het
Klhdc8a	A	G	1: 132,230,743 (GRCm39)	T203A	probably damaging	Het
Lama4	C	T	10: 38,951,432 (GRCm39)	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,462,179 (GRCm39)	L226P	probably damaging	Het
Lifr	T	A	15: 7,217,667 (GRCm39)		probably null	Het
Lonp1	T	A	17: 56,925,406 (GRCm39)	Q462L	probably benign	Het
Lypd1	A	G	1: 125,838,175 (GRCm39)	V48A	possibly damaging	Het
Mapkapk2	A	G	1: 131,025,063 (GRCm39)	I67T	possibly damaging	Het
Mbd3l1	A	T	9: 18,396,154 (GRCm39)	D93V	probably benign	Het
Mdh1b	T	C	1: 63,760,959 (GRCm39)		probably benign	Het
Myh7b	C	T	2: 155,464,206 (GRCm39)	P569L	probably damaging	Het
Ncapd3	C	A	9: 26,963,105 (GRCm39)	A470E	probably damaging	Het
Ndrg2	A	G	14: 52,147,902 (GRCm39)		probably benign	Het
Nprl2	A	T	9: 107,421,618 (GRCm39)	I209F	probably damaging	Het
Ntrk1	A	G	3: 87,699,057 (GRCm39)		probably benign	Het
Olfm2	T	C	9: 20,580,037 (GRCm39)	E268G	probably damaging	Het
Or8b37	T	A	9: 37,958,963 (GRCm39)	Y148*	probably null	Het
Pcf11	T	A	7: 92,307,525 (GRCm39)	H881L	probably benign	Het
Pde10a	A	G	17: 9,196,029 (GRCm39)	D640G	probably damaging	Het
Pde9a	G	A	17: 31,605,330 (GRCm39)		probably null	Het
Pianp	G	T	6: 124,978,503 (GRCm39)	G236V	probably damaging	Het
Polr2g	A	G	19: 8,771,016 (GRCm39)	I160T	probably damaging	Het
Ppp1r3a	A	G	6: 14,717,660 (GRCm39)	S1085P	possibly damaging	Het
Pter	G	A	2: 13,005,811 (GRCm39)	G328D	probably damaging	Het
Rad51	T	A	2: 118,946,808 (GRCm39)	M5K	probably benign	Het
Rbm43	T	A	2: 51,815,679 (GRCm39)	I181F	probably benign	Het
Rgs12	T	C	5: 35,180,120 (GRCm39)		probably benign	Het
Rnf213	A	C	11: 119,332,432 (GRCm39)	D2547A	possibly damaging	Het
Stab2	A	G	10: 86,679,481 (GRCm39)	S2503P	probably benign	Het
Sv2b	A	T	7: 74,775,389 (GRCm39)	F479L	probably damaging	Het
Sybu	T	C	15: 44,536,896 (GRCm39)	R349G	probably damaging	Het
Tead3	T	C	17: 28,560,325 (GRCm39)	Y2C	probably damaging	Het
Tnrc6c	T	A	11: 117,612,284 (GRCm39)	N307K	probably damaging	Het
Ubxn11	C	G	4: 133,843,336 (GRCm39)		probably null	Het
Ust	T	C	10: 8,205,829 (GRCm39)		probably benign	Het
Vmn2r116	T	A	17: 23,620,823 (GRCm39)	N852K	probably benign	Het
Zgrf1	T	C	3: 127,349,046 (GRCm39)		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
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
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'- CCGACAGTAGTTTGAAAGCCAGCAG -3'
(R):5'- ATGATGCCTTTCCGAATGGTCTCC -3'

Sequencing Primer
(F):5'- AGCCAGCAGTTAGCAGTTTC -3'
(R):5'- CCGAATGGTCTCCCCCAC -3'

Posted On

2013-08-06