Mutagenetix > Incidental Mutations

Incidental Mutation 'R4861:Slc47a2'

380257

Institutional Source

Beutler Lab

Gene Symbol

Slc47a2

Ensembl Gene

ENSMUSG00000069855

Gene Name

solute carrier family 47, member 2

Synonyms

4933429E10Rik

MMRRC Submission

042472-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4861 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

61301631-61342860 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61336233 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 170 (C170S)

Ref Sequence

ENSEMBL: ENSMUSP00000120907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093029] [ENSMUST00000134423]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082784

Predicted Effect

probably benign
Transcript: ENSMUST00000093029
AA Change: C170S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855
AA Change: C170S

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
Pfam:MatE	53	213	1.7e-35	PFAM
transmembrane domain	227	246	N/A	INTRINSIC
Pfam:MatE	274	435	4e-34	PFAM
transmembrane domain	444	466	N/A	INTRINSIC
transmembrane domain	545	567	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134423
AA Change: C170S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855
AA Change: C170S

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
Pfam:MatE	53	213	3.5e-32	PFAM
transmembrane domain	227	246	N/A	INTRINSIC
Pfam:MatE	274	435	1.7e-36	PFAM
transmembrane domain	444	466	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147450

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.2%
20x: 84.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,245,905	R1153H	probably damaging	Het
Ahcy	T	C	2: 155,060,516	E411G	probably benign	Het
Alpi	T	A	1: 87,100,469	I211F	probably damaging	Het
Arfgef3	G	A	10: 18,607,731	A1415V	probably benign	Het
Car3	T	C	3: 14,866,896	V109A	probably damaging	Het
Ccdc114	A	G	7: 45,942,873	E359G	probably damaging	Het
Cdk13	A	T	13: 17,766,586	V17D	probably damaging	Het
Cept1	A	C	3: 106,505,732	S226A	probably damaging	Het
Dbt	A	T	3: 116,548,078	I443L	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Farp2	T	C	1: 93,605,419	L633S	probably damaging	Het
Frmd6	T	G	12: 70,893,726	S382A	probably damaging	Het
Gm26727	T	C	2: 67,432,945	I79M	probably damaging	Het
Gm5800	T	A	14: 51,716,047	N37I	probably damaging	Het
Hapln1	G	A	13: 89,601,452	G39S	possibly damaging	Het
Ice2	T	A	9: 69,415,448	S408R	probably benign	Het
Lctl	T	C	9: 64,119,763	I131T	possibly damaging	Het
Mvk	C	T	5: 114,460,197		probably benign	Het
Mzt1	T	C	14: 99,047,474		probably null	Het
Ncoa7	T	A	10: 30,704,612	M117L	probably benign	Het
Npy4r	C	T	14: 34,146,883	W149*	probably null	Het
Nr5a2	A	G	1: 136,948,720		probably null	Het
Plg	G	A	17: 12,395,735	E301K	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Rapgef2	T	C	3: 79,074,436	K1084R	probably benign	Het
Slc41a2	T	C	10: 83,316,458	Q51R	probably damaging	Het
Slco1b2	A	T	6: 141,671,222	N427I	possibly damaging	Het
Smc2	G	A	4: 52,461,090	R571H	probably benign	Het
Sp4	G	T	12: 118,300,811		probably null	Het
Tas2r117	T	C	6: 132,803,129	F77L	probably benign	Het
Tbcd	C	T	11: 121,601,961	R875C	probably damaging	Het
Thumpd2	A	G	17: 81,026,801	S453P	probably benign	Het
Vars2	G	T	17: 35,661,933	Q13K	probably benign	Het

Other mutations in Slc47a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Slc47a2	APN	11	61302233	missense	probably benign	0.16
IGL01367:Slc47a2	APN	11	61329781	missense	probably benign	0.03
IGL01681:Slc47a2	APN	11	61338040	missense	probably damaging	1.00
IGL01874:Slc47a2	APN	11	61312859	critical splice acceptor site	probably null
IGL02049:Slc47a2	APN	11	61342539	missense	probably damaging	0.98
IGL02399:Slc47a2	APN	11	61302194	unclassified	probably benign
IGL02481:Slc47a2	APN	11	61336241	missense	possibly damaging	0.58
IGL02880:Slc47a2	APN	11	61307540	missense	probably damaging	0.97
IGL03068:Slc47a2	APN	11	61303943	missense	probably damaging	1.00
IGL03136:Slc47a2	APN	11	61310765	missense	probably benign	0.00
IGL03236:Slc47a2	APN	11	61313679	missense	probably damaging	1.00
IGL03286:Slc47a2	APN	11	61342467	missense	possibly damaging	0.57
R0047:Slc47a2	UTSW	11	61336242	missense	possibly damaging	0.90
R0047:Slc47a2	UTSW	11	61336242	missense	possibly damaging	0.90
R0597:Slc47a2	UTSW	11	61309976	missense	probably damaging	0.98
R0690:Slc47a2	UTSW	11	61342504	missense	possibly damaging	0.62
R2042:Slc47a2	UTSW	11	61338082	missense	probably benign	0.05
R2217:Slc47a2	UTSW	11	61313671	missense	probably benign	0.00
R2218:Slc47a2	UTSW	11	61313671	missense	probably benign	0.00
R2271:Slc47a2	UTSW	11	61328526	critical splice donor site	probably null
R2272:Slc47a2	UTSW	11	61328526	critical splice donor site	probably null
R4067:Slc47a2	UTSW	11	61303947	missense	probably benign	0.00
R4861:Slc47a2	UTSW	11	61336233	missense	probably benign	0.00
R4862:Slc47a2	UTSW	11	61313694	missense	possibly damaging	0.69
R4985:Slc47a2	UTSW	11	61302233	missense	probably benign
R5419:Slc47a2	UTSW	11	61307586	missense	probably benign
R5593:Slc47a2	UTSW	11	61342660	missense	probably benign	0.00
R7105:Slc47a2	UTSW	11	61342443	missense	probably benign	0.07
R7358:Slc47a2	UTSW	11	61308873	missense	possibly damaging	0.78
R7522:Slc47a2	UTSW	11	61302250	missense	probably benign	0.14
Z1176:Slc47a2	UTSW	11	61325889	missense	probably benign	0.28
Z1177:Slc47a2	UTSW	11	61328575	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTATGTAGACTTGAGAGGGAGG -3'
(R):5'- ACTGATGCAGACAGAGTGC -3'

Sequencing Primer
(F):5'- TATGTAGACTTGAGAGGGAGGGTTAC -3'
(R):5'- AGACAGAGTGCAGGTTTGGCTC -3'

Posted On

2016-04-15