Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Slc20a2'

555324

Institutional Source

Beutler Lab

Gene Symbol

Slc20a2

Ensembl Gene

ENSMUSG00000037656

Gene Name

solute carrier family 20, member 2

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

PIT4453001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22476788-22569612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 22535382 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 33 (F33L)

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: F33L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656
AA Change: F33L

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: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	Het
Plekhg1	C	A	10: 3,963,469	Q1119K		Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757	H1141R	probably benign	Het

Other mutations in Slc20a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:Slc20a2	APN	8	22535557	missense	possibly damaging	0.66
IGL03248:Slc20a2	APN	8	22558983	missense	probably benign	0.05
R0015:Slc20a2	UTSW	8	22535345	missense	probably damaging	1.00
R0015:Slc20a2	UTSW	8	22535345	missense	probably damaging	1.00
R0385:Slc20a2	UTSW	8	22568393	missense	probably benign	0.10
R1679:Slc20a2	UTSW	8	22538830	missense	possibly damaging	0.87
R1737:Slc20a2	UTSW	8	22545566	missense	probably damaging	1.00
R1966:Slc20a2	UTSW	8	22545537	missense	probably damaging	1.00
R2217:Slc20a2	UTSW	8	22560516	missense	probably benign	0.12
R3821:Slc20a2	UTSW	8	22538902	missense	probably benign
R3878:Slc20a2	UTSW	8	22568383	missense	possibly damaging	0.91
R4284:Slc20a2	UTSW	8	22561349	missense	probably benign
R4285:Slc20a2	UTSW	8	22561349	missense	probably benign
R4915:Slc20a2	UTSW	8	22561004	missense	probably damaging	1.00
R4916:Slc20a2	UTSW	8	22561004	missense	probably damaging	1.00
R4918:Slc20a2	UTSW	8	22561004	missense	probably damaging	1.00
R4938:Slc20a2	UTSW	8	22561205	missense	possibly damaging	0.69
R6374:Slc20a2	UTSW	8	22565652	missense	possibly damaging	0.94
R6894:Slc20a2	UTSW	8	22560593	missense	possibly damaging	0.70
R7369:Slc20a2	UTSW	8	22561400	missense	probably benign	0.08
R7756:Slc20a2	UTSW	8	22535492	missense	probably damaging	1.00
R7889:Slc20a2	UTSW	8	22540401	missense	probably damaging	1.00
R8971:Slc20a2	UTSW	8	22540380	missense	probably damaging	1.00
R9110:Slc20a2	UTSW	8	22535441	missense	probably damaging	0.98
R9145:Slc20a2	UTSW	8	22540431	missense	probably benign	0.00
R9433:Slc20a2	UTSW	8	22561195	nonsense	probably null
R9649:Slc20a2	UTSW	8	22538884	missense	probably damaging	1.00
R9778:Slc20a2	UTSW	8	22561391	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCCGAAGTTAGCAACCTCAG -3'
(R):5'- GCTATGCGTGTACACACAAG -3'

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

Posted On

2019-06-07