Mutagenetix > Incidental Mutation

Incidental Mutation 'R0622:Slc17a2'

58745

Institutional Source

Beutler Lab

Gene Symbol

Slc17a2

Ensembl Gene

ENSMUSG00000036110

Gene Name

solute carrier family 17 (sodium phosphate), member 2

Synonyms

NPT3

MMRRC Submission

038811-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0622 (G1)

Quality Score

110

Status

Not validated

Chromosome

Chromosomal Location

23806993-23825180 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23812611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 33 (T33K)

Ref Sequence

ENSEMBL: ENSMUSP00000097288 (fasta)

Gene Model

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

AlphaFold

Q5SZA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000006786
AA Change: T33K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006786
Gene: ENSMUSG00000036110
AA Change: T33K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099697
AA Change: T33K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097288
Gene: ENSMUSG00000036110
AA Change: T33K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141717

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	T	A	13: 30,381,681	M243K	probably benign	Het
Ap1b1	A	G	11: 5,037,707	M744V	probably damaging	Het
C87977	T	C	4: 144,213,013		probably benign	Het
Ccdc152	T	C	15: 3,298,178	N39S	probably damaging	Het
Cd163	G	A	6: 124,317,352	V490M	probably damaging	Het
Col6a5	G	T	9: 105,925,852	H1305N	unknown	Het
Cpb1	C	A	3: 20,249,818	D361Y	probably damaging	Het
Dchs1	T	A	7: 105,763,449	Y1248F	probably damaging	Het
Dhdds	G	C	4: 133,994,236	F83L	probably damaging	Het
Dsg4	T	A	18: 20,449,788	V161E	possibly damaging	Het
Exosc4	A	G	15: 76,327,536	D15G	probably damaging	Het
F3	A	T	3: 121,725,019	D44V	probably damaging	Het
Fat2	A	T	11: 55,283,128	F2253Y	probably damaging	Het
Fbn1	T	C	2: 125,379,024	D650G	possibly damaging	Het
Gramd4	T	A	15: 86,091,389	F36I	probably damaging	Het
Grm7	G	A	6: 111,358,496	A623T	probably damaging	Het
Gys1	A	T	7: 45,439,995	T193S	probably damaging	Het
Hectd4	A	G	5: 121,348,625	T3228A	possibly damaging	Het
Itpk1	G	T	12: 102,573,980	D281E	probably damaging	Het
Kcnh7	A	C	2: 62,837,289		probably null	Het
Klhl29	A	G	12: 5,081,224	L852P	probably damaging	Het
Lrch1	T	C	14: 74,796,051	Y509C	probably benign	Het
Lrp1b	A	G	2: 41,728,551		probably null	Het
Mcpt4	C	A	14: 56,060,662	R144L	probably benign	Het
Mia2	C	T	12: 59,131,578	R12W	probably damaging	Het
Mrps5	A	G	2: 127,594,531	K116R	probably benign	Het
Myrf	G	A	19: 10,223,452	P286S	probably damaging	Het
Nanp	A	G	2: 151,039,244	M28T	probably benign	Het
Neb	T	C	2: 52,212,951	I4472V	probably benign	Het
Nfix	A	C	8: 84,726,482	N314K	probably damaging	Het
Nlrc3	C	T	16: 3,953,968	R849Q	probably benign	Het
Nup210l	G	A	3: 90,167,740	V786M	probably damaging	Het
Olfr1346	T	C	7: 6,474,599	I163T	possibly damaging	Het
Olfr314	T	C	11: 58,786,341	S36P	probably damaging	Het
Olfr600	A	G	7: 103,346,857	S24P	probably damaging	Het
Olfr898	A	G	9: 38,349,371	N96S	possibly damaging	Het
Pdia4	A	T	6: 47,806,518	F197Y	probably damaging	Het
Phldb1	T	C	9: 44,715,852	D432G	probably damaging	Het
Pik3ca	A	G	3: 32,436,552	E116G	probably damaging	Het
Polq	T	C	16: 37,060,993	V1173A	probably benign	Het
Pou2f3	C	T	9: 43,125,119	R423H	probably damaging	Het
Prkag2	T	C	5: 24,869,249	N246S	probably damaging	Het
Proser1	A	G	3: 53,477,860	S388G	probably benign	Het
Ralgps1	G	A	2: 33,174,447	R238*	probably null	Het
Rfx2	T	C	17: 56,777,071	D657G	probably damaging	Het
Ryr3	A	G	2: 112,662,555	F3724S	probably damaging	Het
Sh2d5	T	C	4: 138,259,228	S421P	probably damaging	Het
St8sia5	A	G	18: 77,246,113	T156A	probably damaging	Het
Stk32c	T	C	7: 139,188,110	D85G	probably benign	Het
Tnks	A	G	8: 34,940,822	S251P	probably damaging	Het
Tnxb	T	A	17: 34,718,729	L3864Q	probably damaging	Het
Trim9	A	G	12: 70,346,604	Y189H	probably damaging	Het
Vmn1r77	T	G	7: 12,041,388	F30L	probably benign	Het
Wasf3	A	G	5: 146,466,792		probably null	Het
Wdr90	C	T	17: 25,855,658	C603Y	probably damaging	Het
Zdhhc25	T	C	15: 88,601,107	L215P	probably damaging	Het
Zeb1	C	T	18: 5,759,123	Q140*	probably null	Het
Zfp677	C	T	17: 21,397,700	L340F	probably benign	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
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
R7462:Slc17a2	UTSW	13	23822418	missense	probably damaging	1.00
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'- GGGATTACCTCAGCCTGATGACAAC -3'
(R):5'- TGCAGAGTCAAGACTGAAGCCTCC -3'

Sequencing Primer
(F):5'- aaagaaaggaaaaagaaaaggacaag -3'
(R):5'- GTTATTTTCTGTCAGCACAGAGC -3'

Posted On

2013-07-11