Mutagenetix > Incidental Mutation

Incidental Mutation 'R5593:Slc47a2'

437639

Institutional Source

Beutler Lab

Gene Symbol

Slc47a2

Ensembl Gene

ENSMUSG00000069855

Gene Name

solute carrier family 47, member 2

Synonyms

4933429E10Rik

MMRRC Submission

043145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5593 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

61192457-61233686 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61233486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 40 (V40A)

Ref Sequence

ENSEMBL: ENSMUSP00000090710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010267] [ENSMUST00000093029] [ENSMUST00000131723] [ENSMUST00000134423]

AlphaFold

Q3V050

Predicted Effect

probably benign
Transcript: ENSMUST00000010267

SMART Domains

Protein: ENSMUSP00000010267
Gene: ENSMUSG00000010122

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:MatE	44	204	4.8e-34	PFAM
low complexity region	225	236	N/A	INTRINSIC
Pfam:MatE	265	426	1.6e-32	PFAM
low complexity region	442	452	N/A	INTRINSIC
transmembrane domain	545	564	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093029
AA Change: V40A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000090710
Gene: ENSMUSG00000069855
AA Change: V40A

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: ENSMUST00000131723

SMART Domains

Protein: ENSMUSP00000115132
Gene: ENSMUSG00000010122

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Pfam:MatE	44	180	2.7e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134423
AA Change: V40A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120907
Gene: ENSMUSG00000069855
AA Change: V40A

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,888,027 (GRCm39)	V120I	unknown	Het
Anpep	T	G	7: 79,491,794 (GRCm39)	K69T	probably benign	Het
Appbp2	A	T	11: 85,085,409 (GRCm39)	I499K	possibly damaging	Het
Copb2	A	G	9: 98,469,091 (GRCm39)		probably null	Het
Cpa5	T	C	6: 30,630,848 (GRCm39)	I370T	probably benign	Het
Cpn2	T	C	16: 30,078,898 (GRCm39)	T268A	probably benign	Het
Ctbp2	C	A	7: 132,600,598 (GRCm39)	R99I	possibly damaging	Het
Cul1	G	A	6: 47,462,020 (GRCm39)	W196*	probably null	Het
Cul1	T	C	6: 47,491,925 (GRCm39)	F402L	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Dyrk1a	C	A	16: 94,460,442 (GRCm39)	Q33K	possibly damaging	Het
Elapor2	T	A	5: 9,316,350 (GRCm39)	L27Q	probably benign	Het
Epg5	T	A	18: 78,000,689 (GRCm39)	S542T	probably damaging	Het
Eps8l3	A	T	3: 107,798,504 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,544,321 (GRCm39)	H690R	probably damaging	Het
Fam227a	G	A	15: 79,524,259 (GRCm39)		probably benign	Het
Gadl1	G	T	9: 115,835,718 (GRCm39)	G382V	probably damaging	Het
Gbf1	A	G	19: 46,260,963 (GRCm39)	Q1176R	possibly damaging	Het
Gdf9	A	T	11: 53,324,558 (GRCm39)	H109L	probably damaging	Het
Gsdmd	T	A	15: 75,738,856 (GRCm39)	V411D	probably damaging	Het
Hdc	T	C	2: 126,460,504 (GRCm39)		probably benign	Het
Ifrd2	A	G	9: 107,467,374 (GRCm39)	D82G	probably damaging	Het
Itpkb	T	C	1: 180,161,661 (GRCm39)	S596P	probably damaging	Het
Kcnmb3	A	G	3: 32,546,096 (GRCm39)	V8A	possibly damaging	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mcm9	G	A	10: 53,414,393 (GRCm39)	T229I	probably damaging	Het
Medag	T	A	5: 149,350,415 (GRCm39)	F21L	probably benign	Het
Mefv	A	T	16: 3,533,315 (GRCm39)	C319S	probably benign	Het
Mettl23	T	A	11: 116,734,593 (GRCm39)	V54D	probably damaging	Het
Mul1	A	G	4: 138,166,543 (GRCm39)	D199G	probably damaging	Het
Ncor1	A	T	11: 62,260,130 (GRCm39)	I266N	probably damaging	Het
Nek10	A	T	14: 14,980,544 (GRCm38)	K967*	probably null	Het
Nrcam	A	G	12: 44,606,483 (GRCm39)	T410A	probably damaging	Het
Or1p1	A	G	11: 74,179,618 (GRCm39)	I49V	possibly damaging	Het
Or2b11	T	C	11: 59,461,874 (GRCm39)	R231G	possibly damaging	Het
Or52d13	C	T	7: 103,109,592 (GRCm39)		silent	Het
Or52e4	T	C	7: 104,705,711 (GRCm39)	I86T	probably damaging	Het
Pate2	A	T	9: 35,581,778 (GRCm39)	D24V	possibly damaging	Het
Plcb3	T	C	19: 6,932,117 (GRCm39)	I1124V	possibly damaging	Het
Ptprc	A	T	1: 138,045,458 (GRCm39)		probably benign	Het
Rab6a	T	C	7: 100,257,378 (GRCm39)		probably benign	Het
Rnf208	G	T	2: 25,133,345 (GRCm39)	W13L	possibly damaging	Het
Rps6kl1	G	T	12: 85,193,675 (GRCm39)	Q139K	possibly damaging	Het
Sdk1	T	A	5: 141,941,879 (GRCm39)	I509N	probably damaging	Het
Sephs1	A	G	2: 4,898,098 (GRCm39)	I170V	probably benign	Het
Slc17a8	C	T	10: 89,442,702 (GRCm39)	D44N	probably benign	Het
Slc23a1	T	A	18: 35,755,349 (GRCm39)	I489F	probably damaging	Het
Slc25a19	A	T	11: 115,507,418 (GRCm39)	Y235N	probably damaging	Het
Slurp2	C	T	15: 74,614,917 (GRCm39)	V75I	probably benign	Het
Smc1b	A	C	15: 85,005,842 (GRCm39)	M354R	probably benign	Het
Spice1	C	A	16: 44,191,115 (GRCm39)	A323E	possibly damaging	Het
Sptbn2	T	A	19: 4,798,975 (GRCm39)	V2015E	probably damaging	Het
Sptlc2	A	C	12: 87,415,857 (GRCm39)	F57V	probably benign	Het
Srsf1	A	G	11: 87,938,705 (GRCm39)	N14S	possibly damaging	Het
Ssh2	T	A	11: 77,312,192 (GRCm39)	D228E	probably damaging	Het
Synj2	A	G	17: 6,088,390 (GRCm39)	*1480W	probably null	Het
Syt14	A	T	1: 192,613,231 (GRCm39)	M523K	probably damaging	Het
Tff3	A	T	17: 31,348,516 (GRCm39)	V12E	probably benign	Het
Tgm2	C	A	2: 157,969,262 (GRCm39)	C371F	probably damaging	Het
Tmem260	A	C	14: 48,711,501 (GRCm39)	I197L	probably benign	Het
Unc5a	A	G	13: 55,152,747 (GRCm39)	D887G	possibly damaging	Het
Vstm4	G	T	14: 32,641,247 (GRCm39)	A277S	probably benign	Het
Wdtc1	A	T	4: 133,021,702 (GRCm39)		probably null	Het
Zan	A	G	5: 137,466,600 (GRCm39)	F419S	possibly damaging	Het
Zfp317	G	A	9: 19,558,584 (GRCm39)	R266Q	probably damaging	Het
Zfp931	T	A	2: 177,709,595 (GRCm39)	T264S	possibly damaging	Het
Zpld2	T	C	4: 133,920,350 (GRCm39)	K605R	probably damaging	Het

Other mutations in Slc47a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Slc47a2	APN	11	61,193,059 (GRCm39)	missense	probably benign	0.16
IGL01367:Slc47a2	APN	11	61,220,607 (GRCm39)	missense	probably benign	0.03
IGL01681:Slc47a2	APN	11	61,228,866 (GRCm39)	missense	probably damaging	1.00
IGL01874:Slc47a2	APN	11	61,203,685 (GRCm39)	critical splice acceptor site	probably null
IGL02049:Slc47a2	APN	11	61,233,365 (GRCm39)	missense	probably damaging	0.98
IGL02399:Slc47a2	APN	11	61,193,020 (GRCm39)	unclassified	probably benign
IGL02481:Slc47a2	APN	11	61,227,067 (GRCm39)	missense	possibly damaging	0.58
IGL02880:Slc47a2	APN	11	61,198,366 (GRCm39)	missense	probably damaging	0.97
IGL03068:Slc47a2	APN	11	61,194,769 (GRCm39)	missense	probably damaging	1.00
IGL03136:Slc47a2	APN	11	61,201,591 (GRCm39)	missense	probably benign	0.00
IGL03236:Slc47a2	APN	11	61,204,505 (GRCm39)	missense	probably damaging	1.00
IGL03286:Slc47a2	APN	11	61,233,293 (GRCm39)	missense	possibly damaging	0.57
R0047:Slc47a2	UTSW	11	61,227,068 (GRCm39)	missense	possibly damaging	0.90
R0047:Slc47a2	UTSW	11	61,227,068 (GRCm39)	missense	possibly damaging	0.90
R0597:Slc47a2	UTSW	11	61,200,802 (GRCm39)	missense	probably damaging	0.98
R0690:Slc47a2	UTSW	11	61,233,330 (GRCm39)	missense	possibly damaging	0.62
R2042:Slc47a2	UTSW	11	61,228,908 (GRCm39)	missense	probably benign	0.05
R2217:Slc47a2	UTSW	11	61,204,497 (GRCm39)	missense	probably benign	0.00
R2218:Slc47a2	UTSW	11	61,204,497 (GRCm39)	missense	probably benign	0.00
R2271:Slc47a2	UTSW	11	61,219,352 (GRCm39)	critical splice donor site	probably null
R2272:Slc47a2	UTSW	11	61,219,352 (GRCm39)	critical splice donor site	probably null
R4067:Slc47a2	UTSW	11	61,194,773 (GRCm39)	missense	probably benign	0.00
R4861:Slc47a2	UTSW	11	61,227,059 (GRCm39)	missense	probably benign	0.00
R4861:Slc47a2	UTSW	11	61,227,059 (GRCm39)	missense	probably benign	0.00
R4862:Slc47a2	UTSW	11	61,204,520 (GRCm39)	missense	possibly damaging	0.69
R4985:Slc47a2	UTSW	11	61,193,059 (GRCm39)	missense	probably benign
R5419:Slc47a2	UTSW	11	61,198,412 (GRCm39)	missense	probably benign
R7105:Slc47a2	UTSW	11	61,233,269 (GRCm39)	missense	probably benign	0.07
R7358:Slc47a2	UTSW	11	61,199,699 (GRCm39)	missense	possibly damaging	0.78
R7522:Slc47a2	UTSW	11	61,193,076 (GRCm39)	missense	probably benign	0.14
R8743:Slc47a2	UTSW	11	61,233,588 (GRCm39)	missense	probably benign	0.03
R8916:Slc47a2	UTSW	11	61,193,118 (GRCm39)	missense	probably damaging	1.00
R9060:Slc47a2	UTSW	11	61,227,699 (GRCm39)	missense	probably benign	0.00
R9383:Slc47a2	UTSW	11	61,227,749 (GRCm39)	missense	probably damaging	1.00
R9484:Slc47a2	UTSW	11	61,227,060 (GRCm39)	missense	possibly damaging	0.46
Z1176:Slc47a2	UTSW	11	61,216,715 (GRCm39)	missense	probably benign	0.28
Z1177:Slc47a2	UTSW	11	61,219,401 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCGCAGAAGATGGAACTGAC -3'
(R):5'- GTGTCTATAAGCACCCAGGC -3'

Sequencing Primer
(F):5'- TGGAACTGACGATGCTGATG -3'
(R):5'- ACTTCGCAGTGGCTACTCGAC -3'

Posted On

2016-10-26