Mutagenetix > Incidental Mutation

Incidental Mutation 'R1966:Slc20a2'

218961

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

039979-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R1966 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22966804-23059628 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23035553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 184 (P184T)

Ref Sequence

ENSEMBL: ENSMUSP00000065935 (fasta)

Gene Model

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

AlphaFold

Q80UP8

Predicted Effect

probably damaging
Transcript: ENSMUST00000067786
AA Change: P184T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065935
Gene: ENSMUSG00000037656
AA Change: P184T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210388

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,650 (GRCm39)	V185E	probably benign	Het
Abca1	A	C	4: 53,050,409 (GRCm39)	V1608G	probably damaging	Het
Ap2b1	T	C	11: 83,237,721 (GRCm39)	I557T	probably benign	Het
Arhgef15	G	T	11: 68,845,501 (GRCm39)	P117Q	probably damaging	Het
Arhgef39	T	C	4: 43,496,710 (GRCm39)	S335G	probably benign	Het
Blm	A	T	7: 80,162,934 (GRCm39)	F139Y	possibly damaging	Het
Cacna2d1	C	T	5: 16,538,783 (GRCm39)	R581*	probably null	Het
Cadps	C	A	14: 12,822,450 (GRCm38)	E97*	probably null	Het
Cavin2	T	A	1: 51,328,801 (GRCm39)	L86Q	probably damaging	Het
Ccdc136	A	G	6: 29,418,091 (GRCm39)	E787G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Cdh23	T	C	10: 60,159,361 (GRCm39)	Y2138C	probably damaging	Het
Cdk12	T	A	11: 98,094,916 (GRCm39)	Y241*	probably null	Het
Clcn4	T	A	7: 7,287,184 (GRCm39)	*688L	probably null	Het
Cntnap1	T	C	11: 101,071,212 (GRCm39)	V375A	possibly damaging	Het
Coq5	T	A	5: 115,432,890 (GRCm39)		probably null	Het
Cyp4b1	A	G	4: 115,483,076 (GRCm39)	I405T	probably benign	Het
Det1	T	C	7: 78,492,966 (GRCm39)	Y346C	probably damaging	Het
Enpp3	A	T	10: 24,683,389 (GRCm39)	V276E	probably damaging	Het
Epb41l2	G	A	10: 25,317,666 (GRCm39)	R61Q	probably benign	Het
Fam76b	G	A	9: 13,739,362 (GRCm39)		probably null	Het
Fbxo45	A	T	16: 32,052,048 (GRCm39)	D238E	probably benign	Het
Fnip2	G	A	3: 79,400,779 (GRCm39)	T314I	probably benign	Het
Fsip2	T	C	2: 82,823,124 (GRCm39)	S6286P	possibly damaging	Het
Gbf1	T	C	19: 46,260,003 (GRCm39)	F999L	probably damaging	Het
Gnao1	C	A	8: 94,670,827 (GRCm39)	T102K	probably benign	Het
Gpatch2	T	A	1: 187,054,498 (GRCm39)	D76E	probably damaging	Het
Gpd1l	A	G	9: 114,743,462 (GRCm39)	I146T	probably benign	Het
Grik2	A	T	10: 49,232,005 (GRCm39)	H508Q	probably damaging	Het
Hapstr1	A	G	16: 8,648,445 (GRCm39)	E41G	possibly damaging	Het
Hk3	A	T	13: 55,162,268 (GRCm39)	F112Y	probably damaging	Het
Hmcn2	T	G	2: 31,279,341 (GRCm39)	I1781S	probably damaging	Het
Inhba	A	T	13: 16,201,221 (GRCm39)	K261M	probably damaging	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcna2	T	C	3: 107,011,946 (GRCm39)	S176P	probably damaging	Het
Kcnj3	A	T	2: 55,327,343 (GRCm39)	Q44L	probably damaging	Het
Kcns1	G	T	2: 164,010,455 (GRCm39)	F101L	probably damaging	Het
Kdm5b	T	A	1: 134,541,611 (GRCm39)		probably null	Het
Klhl14	C	T	18: 21,687,730 (GRCm39)	G564D	probably damaging	Het
Klhl18	A	T	9: 110,305,658 (GRCm39)	V2E	probably benign	Het
Klhl6	T	C	16: 19,801,572 (GRCm39)	E61G	probably damaging	Het
Krt1	T	C	15: 101,757,427 (GRCm39)	D261G	probably benign	Het
Lama5	C	A	2: 179,830,145 (GRCm39)	C1896F	probably damaging	Het
Lrba	A	G	3: 86,513,175 (GRCm39)		probably null	Het
Lrch3	A	G	16: 32,734,755 (GRCm39)	T82A	possibly damaging	Het
Maml3	C	G	3: 52,011,560 (GRCm39)	G2A	unknown	Het
Mapkap1	T	A	2: 34,408,691 (GRCm39)	N34K	probably damaging	Het
Muc13	A	T	16: 33,634,909 (GRCm39)	I488F	probably damaging	Het
Muc5ac	A	G	7: 141,357,113 (GRCm39)	D1129G	possibly damaging	Het
Nacc1	A	T	8: 85,403,010 (GRCm39)	N288K	probably damaging	Het
Nek1	T	G	8: 61,469,330 (GRCm39)	I129R	probably damaging	Het
Nf1	T	A	11: 79,302,390 (GRCm39)	S319R	possibly damaging	Het
Nle1	C	T	11: 82,792,614 (GRCm39)	G432D	probably damaging	Het
Nol4l	A	G	2: 153,371,375 (GRCm39)	V103A	probably benign	Het
Oca2	A	G	7: 56,064,215 (GRCm39)	I737V	probably damaging	Het
Or12k5	A	T	2: 36,894,960 (GRCm39)	F222Y	possibly damaging	Het
Or1j17	G	A	2: 36,578,796 (GRCm39)	V261I	probably benign	Het
Or4b1	T	C	2: 89,979,748 (GRCm39)	S201G	probably damaging	Het
Or51l4	G	T	7: 103,404,375 (GRCm39)	T139K	probably damaging	Het
Or52ac1	A	G	7: 104,246,008 (GRCm39)	C127R	probably damaging	Het
Or6k6	G	T	1: 173,944,817 (GRCm39)	S255*	probably null	Het
Or6s1	T	A	14: 51,308,614 (GRCm39)	I79F	probably damaging	Het
Orc1	T	A	4: 108,469,414 (GRCm39)	I746N	probably damaging	Het
Pbxip1	A	G	3: 89,352,795 (GRCm39)	D147G	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plin5	T	A	17: 56,419,186 (GRCm39)	D412V	probably damaging	Het
Plxna2	A	T	1: 194,327,008 (GRCm39)	Y314F	possibly damaging	Het
Ppid	A	T	3: 79,509,606 (GRCm39)	K308*	probably null	Het
Prss38	T	C	11: 59,264,310 (GRCm39)	Y219C	probably damaging	Het
Ptx3	C	T	3: 66,132,042 (GRCm39)	R188C	probably damaging	Het
Ralgds	T	A	2: 28,435,887 (GRCm39)	V504E	probably damaging	Het
Rere	T	C	4: 150,701,330 (GRCm39)	Y1237H	probably damaging	Het
Rpp30	C	T	19: 36,066,549 (GRCm39)	S94L	probably damaging	Het
Rrp15	C	T	1: 186,468,402 (GRCm39)	V205I	possibly damaging	Het
Scpep1	A	G	11: 88,843,240 (GRCm39)	W73R	probably damaging	Het
Sec23ip	A	G	7: 128,357,077 (GRCm39)	H376R	probably damaging	Het
Serping1	G	T	2: 84,596,072 (GRCm39)	T454K	probably damaging	Het
Shtn1	T	G	19: 58,963,470 (GRCm39)	Y615S	probably benign	Het
Slc22a29	C	A	19: 8,195,772 (GRCm39)	R89L	probably damaging	Het
Slc2a2	A	G	3: 28,773,634 (GRCm39)	Q313R	probably damaging	Het
Tas2r122	A	T	6: 132,688,157 (GRCm39)	Y245*	probably null	Het
Ticrr	C	A	7: 79,344,483 (GRCm39)	C1449*	probably null	Het
Tmem181a	T	C	17: 6,353,501 (GRCm39)	V412A	probably benign	Het
Tmtc4	T	A	14: 123,165,011 (GRCm39)	E616V	probably benign	Het
Tnrc6b	A	G	15: 80,764,640 (GRCm39)	K714R	probably damaging	Het
Trpm8	T	A	1: 88,260,470 (GRCm39)		probably null	Het
Ubr2	T	C	17: 47,265,845 (GRCm39)	T1163A	probably benign	Het
Ubr4	A	G	4: 139,178,555 (GRCm39)		probably null	Het
Ulk2	A	T	11: 61,710,297 (GRCm39)		probably null	Het
Ulk4	T	A	9: 121,086,182 (GRCm39)	M350L	probably benign	Het
Vmn1r185	T	C	7: 26,310,956 (GRCm39)	E183G	probably benign	Het
Vmn1r76	T	A	7: 11,664,441 (GRCm39)	I223F	probably damaging	Het
Wdr27	T	C	17: 15,154,861 (GRCm39)	T19A	possibly damaging	Het
Wdr59	T	G	8: 112,177,535 (GRCm39)	T973P	possibly damaging	Het
Wnk2	A	G	13: 49,192,487 (GRCm39)	S664P	probably damaging	Het
Zfp1004	T	A	2: 150,033,827 (GRCm39)	D49E	probably benign	Het
Zfp120	A	T	2: 149,959,318 (GRCm39)	C335S	probably damaging	Het
Zfp30	C	A	7: 29,491,877 (GRCm39)	Q44K	probably benign	Het
Zfp541	T	C	7: 15,812,996 (GRCm39)	S550P	probably benign	Het
Zw10	C	A	9: 48,980,133 (GRCm39)	N421K	probably 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
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'- TGCACCTGTGTAGAAGGTGC -3'
(R):5'- GGAATTTAACTCGAAAGCCTGTTG -3'

Sequencing Primer
(F):5'- TGTAGAAGGTGCCTGGGCC -3'
(R):5'- TACCATAATGACTGTGAACAATGCC -3'

Posted On

2014-08-25