Mutagenetix > Incidental Mutation

Incidental Mutation 'R7462:Slc17a2'

578524

Institutional Source

Beutler Lab

Gene Symbol

Slc17a2

Ensembl Gene

ENSMUSG00000036110

Gene Name

solute carrier family 17 (sodium phosphate), member 2

Synonyms

NPT3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7462 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23806993-23825180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23822418 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 476 (T476S)

Ref Sequence

ENSEMBL: ENSMUSP00000097288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006786] [ENSMUST00000099697]

AlphaFold

Q5SZA1

Predicted Effect

probably benign
Transcript: ENSMUST00000006786

SMART Domains

Protein: ENSMUSP00000006786
Gene: ENSMUSG00000036110

Domain	Start	End	E-Value	Type
Pfam:MFS_1	19	425	3.5e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099697
AA Change: T476S

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

SMART Domains

Protein: ENSMUSP00000097288
Gene: ENSMUSG00000036110
AA Change: T476S

Domain	Start	End	E-Value	Type
Pfam:MFS_1	19	425	2.9e-45	PFAM
transmembrane domain	443	462	N/A	INTRINSIC

Meta Mutation Damage Score

0.0997

Coding Region Coverage

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

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	G	C	3: 126,943,034	T3067S	unknown	Het
Ankrd28	T	C	14: 31,778,929	N35S	probably benign	Het
Bicra	A	T	7: 15,979,135	S996T	possibly damaging	Het
Btbd7	T	C	12: 102,837,722	E353G	possibly damaging	Het
Ccdc144b	T	A	3: 36,025,906		probably null	Het
Cdhr2	A	T	13: 54,726,739	I875F	probably damaging	Het
Ceacam5	A	T	7: 17,760,839	Y924F	probably damaging	Het
Clca4b	A	G	3: 144,922,860	I362T	probably benign	Het
Dchs2	A	G	3: 83,346,155		probably null	Het
Dlc1	T	A	8: 36,937,964	T224S	unknown	Het
Dmxl2	T	C	9: 54,366,632		probably null	Het
Dnajc1	A	G	2: 18,308,899	F137S	probably damaging	Het
E130311K13Rik	T	C	3: 63,929,301	T24A	probably benign	Het
Eya1	T	C	1: 14,231,414	E317G	probably null	Het
Fpr-rs6	A	G	17: 20,182,223	L292P	probably damaging	Het
Gca	G	T	2: 62,672,409	D54Y	possibly damaging	Het
Gm45861	G	A	8: 27,534,489		probably null	Het
Gm9573	T	C	17: 35,620,676	S873G	unknown	Het
Gtf2a1l	A	G	17: 88,694,138	T141A	possibly damaging	Het
Hgsnat	T	C	8: 25,957,213	N351S	probably benign	Het
Htr1f	A	T	16: 64,926,020	V303E	probably damaging	Het
Iars2	C	A	1: 185,322,866	W302L	probably damaging	Het
Igkv4-74	T	A	6: 69,185,116	Q23L	possibly damaging	Het
Il18	A	T	9: 50,565,373		probably benign	Het
Ints4	A	G	7: 97,506,128	D329G	probably benign	Het
Itsn1	T	C	16: 91,853,185	F249S	possibly damaging	Het
Ktn1	A	G	14: 47,694,632	E672G	probably null	Het
Lhx6	A	G	2: 36,084,071	I359T	possibly damaging	Het
Lrp1b	T	C	2: 41,113,029	E2030G		Het
Macf1	T	A	4: 123,492,763	K1114N	probably damaging	Het
Mbd5	A	G	2: 49,257,880	M701V	possibly damaging	Het
Mcemp1	A	T	8: 3,667,065	M69L	probably benign	Het
Mfsd4b2	T	A	10: 39,921,881	K159N	probably benign	Het
Mroh2b	T	A	15: 4,908,627	D243E	probably damaging	Het
Mug1	A	T	6: 121,875,440	Q829L	probably benign	Het
Nav3	A	T	10: 109,823,578	V726E	probably damaging	Het
Nfib	T	C	4: 82,353,589	Q247R	probably benign	Het
Npbwr1	T	C	1: 5,916,932	N121S	probably damaging	Het
Olfr187	A	T	16: 59,036,016	C240*	probably null	Het
Olfr378	T	C	11: 73,425,470	D171G	probably benign	Het
Olfr691	T	A	7: 105,337,500	D72V	probably damaging	Het
Pkd1l3	A	G	8: 109,628,777	S726G	probably benign	Het
Ppip5k1	A	T	2: 121,336,751	V847D	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Ripor2	G	A	13: 24,696,307	V385M	unknown	Het
Rufy1	C	T	11: 50,407,828	V379M	possibly damaging	Het
S100a5	A	G	3: 90,609,900	K26R	probably damaging	Het
Sin3a	T	C	9: 57,095,525	S234P	probably benign	Het
Sirt7	G	A	11: 120,620,792	T225I	probably benign	Het
Slc38a6	T	A	12: 73,350,577	M331K	probably benign	Het
Spam1	T	C	6: 24,796,908	I286T	probably damaging	Het
Syne1	T	A	10: 5,052,793	I214F	possibly damaging	Het
Tmtc1	A	G	6: 148,325,145	L427P	probably damaging	Het
Tpbg	G	A	9: 85,844,850	A291T	possibly damaging	Het
Zfp40	A	G	17: 23,178,388	F45S	possibly damaging	Het
Zfp451	C	T	1: 33,777,013	V619M	probably damaging	Het
Zim1	A	G	7: 6,677,812	L284P	probably damaging	Het
Zkscan4	A	G	13: 21,483,874	E165G	probably benign	Het
Zmynd11	T	A	13: 9,698,684	N154Y	probably benign	Het
Zscan12	A	T	13: 21,369,287	H427L	possibly damaging	Het

Other mutations in Slc17a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Slc17a2	APN	13	23819334	missense	probably benign	0.13
IGL01511:Slc17a2	APN	13	23819138	critical splice donor site	probably null
IGL01624:Slc17a2	APN	13	23814986	missense	probably benign	0.00
IGL01839:Slc17a2	APN	13	23812685	missense	possibly damaging	0.91
IGL02010:Slc17a2	APN	13	23819042	missense	probably benign	0.00
IGL03299:Slc17a2	APN	13	23821111	critical splice donor site	probably null
R7808_slc17a2_962	UTSW	13	23819334	missense	probably damaging	0.99
R0622:Slc17a2	UTSW	13	23812611	missense	probably damaging	1.00
R1104:Slc17a2	UTSW	13	23819937	missense	probably damaging	0.99
R1530:Slc17a2	UTSW	13	23819069	missense	probably damaging	1.00
R1682:Slc17a2	UTSW	13	23812640	missense	probably damaging	0.96
R2255:Slc17a2	UTSW	13	23821008	missense	probably benign	0.09
R4923:Slc17a2	UTSW	13	23819095	missense	probably benign	0.20
R5193:Slc17a2	UTSW	13	23819862	critical splice acceptor site	probably null
R5321:Slc17a2	UTSW	13	23812631	missense	possibly damaging	0.95
R5334:Slc17a2	UTSW	13	23819051	missense	probably damaging	0.97
R5377:Slc17a2	UTSW	13	23812592	missense	probably damaging	1.00
R6165:Slc17a2	UTSW	13	23815070	missense	probably benign	0.00
R6280:Slc17a2	UTSW	13	23822394	missense	probably benign
R6311:Slc17a2	UTSW	13	23815022	missense	probably benign	0.40
R6323:Slc17a2	UTSW	13	23814986	missense	probably benign	0.00
R6476:Slc17a2	UTSW	13	23812586	missense	probably damaging	1.00
R6814:Slc17a2	UTSW	13	23822389	missense	possibly damaging	0.55
R7155:Slc17a2	UTSW	13	23822407	missense	probably benign	0.21
R7188:Slc17a2	UTSW	13	23822365	missense	probably damaging	1.00
R7288:Slc17a2	UTSW	13	23819112	missense	probably benign	0.09
R7808:Slc17a2	UTSW	13	23819334	missense	probably damaging	0.99
R7937:Slc17a2	UTSW	13	23812665	missense	probably benign
R8444:Slc17a2	UTSW	13	23819078	missense	probably benign	0.00
R8447:Slc17a2	UTSW	13	23822326	missense	possibly damaging	0.50
R8932:Slc17a2	UTSW	13	23820201	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGTGTGATTAGCAATGCAATATGC -3'
(R):5'- TAACTCACTCTGGAGGGTAGC -3'

Sequencing Primer
(F):5'- GCAAAGGACTTGTATAATTGGTAGG -3'
(R):5'- AGGGTAGCCTGGGATCTGC -3'

Posted On

2019-10-07