Mutagenetix > Incidental Mutation

Incidental Mutation 'R8822:Slc52a3'

673094

Institutional Source

Beutler Lab

Gene Symbol

Slc52a3

Ensembl Gene

ENSMUSG00000027463

Gene Name

solute carrier protein family 52, member 3

Synonyms

2310046K01Rik

MMRRC Submission

068655-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8822 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151838431-151851178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 151846513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 158 (V158G)

Ref Sequence

ENSEMBL: ENSMUSP00000072961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073228] [ENSMUST00000109858] [ENSMUST00000109859] [ENSMUST00000109861]

AlphaFold

Q9D6X5

Predicted Effect

probably benign
Transcript: ENSMUST00000073228
AA Change: V158G

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

SMART Domains

Protein: ENSMUSP00000072961
Gene: ENSMUSG00000027463
AA Change: V158G

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	106	128	N/A	INTRINSIC
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	210	232	N/A	INTRINSIC
Pfam:DUF1011	285	386	7.6e-47	PFAM
transmembrane domain	390	412	N/A	INTRINSIC
transmembrane domain	419	441	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109858
AA Change: V158G

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

SMART Domains

Protein: ENSMUSP00000105484
Gene: ENSMUSG00000027463
AA Change: V158G

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	106	128	N/A	INTRINSIC
transmembrane domain	135	157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109859
AA Change: V158G

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

SMART Domains

Protein: ENSMUSP00000105485
Gene: ENSMUSG00000027463
AA Change: V158G

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	106	128	N/A	INTRINSIC
transmembrane domain	135	157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109861
AA Change: V158G

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

SMART Domains

Protein: ENSMUSP00000105487
Gene: ENSMUSG00000027463
AA Change: V158G

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	39	61	N/A	INTRINSIC
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	106	128	N/A	INTRINSIC
transmembrane domain	141	163	N/A	INTRINSIC
transmembrane domain	210	232	N/A	INTRINSIC
Pfam:DUF1011	288	386	1.1e-42	PFAM
transmembrane domain	390	412	N/A	INTRINSIC
transmembrane domain	419	441	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal placental riboflavin transport and sudden neonatal death associated with hyperlipidemia and hypoglycemia due to riboflavin deficiency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb1	T	C	19: 56,711,849 (GRCm39)	V349A	probably damaging	Het
Atp2a2	A	G	5: 122,629,772 (GRCm39)	V99A	possibly damaging	Het
Bank1	T	A	3: 135,809,640 (GRCm39)	D418V	possibly damaging	Het
Cacna1d	A	G	14: 29,900,692 (GRCm39)	V331A	probably benign	Het
Cd28	A	T	1: 60,808,820 (GRCm39)	N178I	possibly damaging	Het
Cdcp3	A	T	7: 130,843,706 (GRCm39)		probably null	Het
Ceacam12	T	C	7: 17,803,378 (GRCm39)		probably benign	Het
Cfap54	G	A	10: 92,875,003 (GRCm39)	A494V	probably benign	Het
Chpt1	A	G	10: 88,324,268 (GRCm39)	V180A	probably damaging	Het
Cplane1	T	C	15: 8,201,262 (GRCm39)	I13T	probably damaging	Het
Cplx3	A	G	9: 57,514,471 (GRCm39)	V493A	probably benign	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Fam151a	A	T	4: 106,602,842 (GRCm39)	M254L	probably benign	Het
Fyco1	A	T	9: 123,648,184 (GRCm39)	I1250N	probably damaging	Het
Gm6685	T	G	11: 28,289,768 (GRCm39)	Q16P	probably benign	Het
Gpr26	A	G	7: 131,568,997 (GRCm39)	Y114C	probably damaging	Het
Helb	A	T	10: 119,941,389 (GRCm39)	V433D	probably benign	Het
Hps3	A	G	3: 20,057,391 (GRCm39)	W930R	probably benign	Het
Igdcc4	C	T	9: 65,031,298 (GRCm39)	T412I	possibly damaging	Het
Klhl35	T	C	7: 99,122,055 (GRCm39)	V485A	probably benign	Het
Lmo7	A	G	14: 102,121,610 (GRCm39)	D225G	probably damaging	Het
Myo15a	C	T	11: 60,367,740 (GRCm39)	R167C	probably damaging	Het
Obp2a	A	T	2: 25,590,188 (GRCm39)	D29V	probably damaging	Het
Or10d3	C	A	9: 39,461,812 (GRCm39)	M118I	probably benign	Het
Or13a22	A	G	7: 140,072,926 (GRCm39)	Y125C	possibly damaging	Het
Or52b2	A	G	7: 104,986,809 (GRCm39)	V38A	probably benign	Het
Or5d47	A	G	2: 87,804,785 (GRCm39)	S75P	possibly damaging	Het
Or8g4	A	G	9: 39,661,700 (GRCm39)	Y6C	probably benign	Het
Pde6b	A	G	5: 108,551,328 (GRCm39)	E204G	probably benign	Het
Pkd1	T	C	17: 24,784,615 (GRCm39)	V387A	probably benign	Het
Pkd1l1	A	T	11: 8,806,312 (GRCm39)	I2054K		Het
Pkp1	T	A	1: 135,807,661 (GRCm39)	M536L	probably benign	Het
Platr25	T	C	13: 62,848,658 (GRCm39)	E68G	probably benign	Het
Plxna4	T	C	6: 32,127,431 (GRCm39)	D1892G	possibly damaging	Het
Pramel30	A	G	4: 144,057,092 (GRCm39)	K92E	probably benign	Het
Prr12	A	G	7: 44,699,763 (GRCm39)	L76P	unknown	Het
Ptprz1	T	A	6: 23,002,588 (GRCm39)	N1559K	probably damaging	Het
Rbl2	A	T	8: 91,833,346 (GRCm39)	N750I	possibly damaging	Het
Rhpn2	A	T	7: 35,090,228 (GRCm39)	M617L	probably benign	Het
Rprd2	A	G	3: 95,691,613 (GRCm39)	S221P	probably damaging	Het
S100a4	T	C	3: 90,512,358 (GRCm39)	S14P	probably benign	Het
Samd11	A	T	4: 156,336,764 (GRCm39)	L25Q	probably damaging	Het
Sash1	G	A	10: 8,761,615 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,370,979 (GRCm39)	S534P	probably damaging	Het
Sec31b	C	A	19: 44,507,702 (GRCm39)	V781F	probably benign	Het
Setd1a	C	T	7: 127,385,332 (GRCm39)	L680F	possibly damaging	Het
Slc10a2	T	G	8: 5,139,149 (GRCm39)	Q265P	probably damaging	Het
Slc27a1	T	A	8: 72,033,308 (GRCm39)	D283E	probably damaging	Het
Slc38a4	G	A	15: 96,906,952 (GRCm39)	T262M	probably benign	Het
Snx16	T	C	3: 10,484,125 (GRCm39)	V64A	probably benign	Het
Stox1	A	T	10: 62,499,900 (GRCm39)	W887R	probably damaging	Het
Tcap	G	A	11: 98,275,264 (GRCm39)	V133M	probably benign	Het
Ticam1	A	G	17: 56,578,444 (GRCm39)	L217P	probably damaging	Het
Tnfrsf12a	T	C	17: 23,895,188 (GRCm39)	S87G	probably benign	Het
Tyr	G	A	7: 87,142,330 (GRCm39)	R77C	probably damaging	Het
Uba6	A	G	5: 86,294,932 (GRCm39)		probably benign	Het
Usp24	G	A	4: 106,269,410 (GRCm39)	V2107M	probably benign	Het
Wdr64	T	C	1: 175,544,920 (GRCm39)	S118P	probably damaging	Het
Zbtb21	G	A	16: 97,752,516 (GRCm39)	T589I	probably damaging	Het
Zfp263	G	T	16: 3,562,004 (GRCm39)		probably benign	Het
Zfp318	A	G	17: 46,723,831 (GRCm39)	T1945A	probably benign	Het
Zfp644	G	T	5: 106,783,087 (GRCm39)	R1065S	possibly damaging	Het
Zfp668	A	T	7: 127,466,315 (GRCm39)	S290T	probably damaging	Het
Zfp808	T	A	13: 62,320,869 (GRCm39)	D699E	probably damaging	Het

Other mutations in Slc52a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01391:Slc52a3	APN	2	151,849,522 (GRCm39)	missense	probably benign	0.41
IGL01511:Slc52a3	APN	2	151,846,564 (GRCm39)	missense	probably benign	0.00
IGL02058:Slc52a3	APN	2	151,847,811 (GRCm39)	missense	probably damaging	1.00
IGL02271:Slc52a3	APN	2	151,847,448 (GRCm39)	splice site	probably benign
R0238:Slc52a3	UTSW	2	151,850,076 (GRCm39)	makesense	probably null
R0238:Slc52a3	UTSW	2	151,850,076 (GRCm39)	makesense	probably null
R0239:Slc52a3	UTSW	2	151,850,076 (GRCm39)	makesense	probably null
R0239:Slc52a3	UTSW	2	151,850,076 (GRCm39)	makesense	probably null
R0352:Slc52a3	UTSW	2	151,849,433 (GRCm39)	nonsense	probably null
R3727:Slc52a3	UTSW	2	151,847,701 (GRCm39)	missense	probably benign	0.00
R4272:Slc52a3	UTSW	2	151,847,660 (GRCm39)	missense	possibly damaging	0.87
R4273:Slc52a3	UTSW	2	151,847,660 (GRCm39)	missense	possibly damaging	0.87
R6267:Slc52a3	UTSW	2	151,849,529 (GRCm39)	splice site	probably null
R7265:Slc52a3	UTSW	2	151,846,336 (GRCm39)	missense	possibly damaging	0.78
R7409:Slc52a3	UTSW	2	151,846,086 (GRCm39)	missense	probably damaging	1.00
R7634:Slc52a3	UTSW	2	151,846,534 (GRCm39)	missense	possibly damaging	0.49
R8697:Slc52a3	UTSW	2	151,846,396 (GRCm39)	missense	probably damaging	1.00
R9243:Slc52a3	UTSW	2	151,846,512 (GRCm39)	missense	probably benign
R9443:Slc52a3	UTSW	2	151,846,299 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACAGCATAGTGTGGCCTTC -3'
(R):5'- TGTGGCCCTACACATGTGTG -3'

Sequencing Primer
(F):5'- AGCATAGTGTGGCCTTCATCGTC -3'
(R):5'- GAATATGTAGTTATGCCAAGTAAGGG -3'

Posted On

2021-04-30