Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01743:Scarb2'

152929

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scarb2

Ensembl Gene

ENSMUSG00000029426

Gene Name

scavenger receptor class B, member 2

Synonyms

LGP85, Cd36l2, 9330185J12Rik, LIMP-2, LIMP II

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL01743

Quality Score

Status

Chromosome

Chromosomal Location

92589170-92653516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92608662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 188 (V188A)

Ref Sequence

ENSEMBL: ENSMUSP00000031377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031377]

AlphaFold

O35114

Predicted Effect

probably benign
Transcript: ENSMUST00000031377
AA Change: V188A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000031377
Gene: ENSMUSG00000029426
AA Change: V188A

Domain	Start	End	E-Value	Type
Pfam:CD36	11	457	6.8e-154	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184064

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a CD36-like type III transmembrane glycoprotein that localizes to the lysosomal membrane. Mice lacking the encoded protein exhibit an increased postnatal mortality caused by an obstruction of the ureteropelvic junction, deafness, peripheral demyelinating neuropathy and tubular proteinuria. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous mutation of this gene results in renal dysfunction, progressive deafness, and progressive demylination of the peripheral nerves. Mutant animals show a 2-fold increased water consumption along with increased urine volume, and develop an enlarged, ball-like trunk with age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,646,238 (GRCm39)	N750K	probably benign	Het
Ackr2	T	C	9: 121,738,566 (GRCm39)	C314R	probably benign	Het
Adar	C	T	3: 89,652,747 (GRCm39)	Q210*	probably null	Het
Aifm1	A	G	X: 47,569,153 (GRCm39)		probably benign	Het
Aldoa	G	T	7: 126,395,875 (GRCm39)	D198E	probably damaging	Het
Ampd1	T	A	3: 103,002,201 (GRCm39)		probably benign	Het
Arhgef18	G	T	8: 3,414,697 (GRCm39)	C25F	probably benign	Het
Btnl1	T	C	17: 34,604,659 (GRCm39)	I480T	probably damaging	Het
Capn9	T	C	8: 125,318,508 (GRCm39)	S125P	probably benign	Het
Cd40lg	T	A	X: 56,257,592 (GRCm39)	Y26*	probably null	Het
Cdc42bpg	G	T	19: 6,359,853 (GRCm39)		probably null	Het
Cdh10	T	C	15: 18,986,855 (GRCm39)	L362P	probably benign	Het
Dhx16	A	G	17: 36,199,000 (GRCm39)	D782G	probably damaging	Het
Dnajb14	G	T	3: 137,611,761 (GRCm39)	V320L	possibly damaging	Het
Dpy19l1	C	T	9: 24,396,365 (GRCm39)	R117Q	probably damaging	Het
Ercc6	T	C	14: 32,274,561 (GRCm39)	V568A	probably damaging	Het
Faf2	T	C	13: 54,789,311 (GRCm39)		probably null	Het
Fbrsl1	C	T	5: 110,529,506 (GRCm39)	V223M	probably damaging	Het
Fcrl5	T	C	3: 87,351,598 (GRCm39)	V282A	probably damaging	Het
Fxr2	C	T	11: 69,543,448 (GRCm39)	L650F	possibly damaging	Het
Gabrq	A	G	X: 71,880,448 (GRCm39)	M314V	probably benign	Het
Gnas	T	A	2: 174,140,125 (GRCm39)	Y157*	probably null	Het
Gtf2i	T	C	5: 134,315,747 (GRCm39)	E175G	probably damaging	Het
Gtf3c1	A	C	7: 125,262,587 (GRCm39)	Y1091D	probably damaging	Het
Heatr5b	G	A	17: 79,132,069 (GRCm39)	Q345*	probably null	Het
Hydin	T	C	8: 111,319,408 (GRCm39)	V4437A	possibly damaging	Het
Idi2	T	A	13: 9,008,578 (GRCm39)	L112Q	probably damaging	Het
Ift80	C	T	3: 68,869,629 (GRCm39)	V221M	probably benign	Het
Il16	A	G	7: 83,301,507 (GRCm39)	F205S	probably benign	Het
Irf1	T	A	11: 53,665,277 (GRCm39)	M218K	probably benign	Het
Itga8	T	C	2: 12,270,144 (GRCm39)	N114S	probably benign	Het
Itgae	T	C	11: 73,002,585 (GRCm39)	V114A	probably benign	Het
Klhdc10	A	G	6: 30,441,933 (GRCm39)		probably null	Het
Krt78	C	A	15: 101,859,333 (GRCm39)	R288L	probably benign	Het
Lars2	A	T	9: 123,282,313 (GRCm39)	L632F	probably damaging	Het
Mpdz	T	C	4: 81,235,919 (GRCm39)	D1220G	probably damaging	Het
Msl1	C	T	11: 98,696,245 (GRCm39)	T597I	probably damaging	Het
Mtor	T	C	4: 148,615,070 (GRCm39)		probably benign	Het
Myo1b	T	C	1: 51,821,179 (GRCm39)	T435A	probably damaging	Het
Neb	A	G	2: 52,115,679 (GRCm39)	Y4176H	probably damaging	Het
Nxpe3	A	G	16: 55,670,128 (GRCm39)	F326L	probably benign	Het
Or13a21	T	C	7: 139,999,581 (GRCm39)	Y35C	probably damaging	Het
Or2ag1	A	G	7: 106,313,541 (GRCm39)	S116P	possibly damaging	Het
Pak5	T	A	2: 135,929,333 (GRCm39)	R617W	probably damaging	Het
Peak1	C	A	9: 56,166,486 (GRCm39)	V481L	probably damaging	Het
Pik3ap1	G	A	19: 41,281,267 (GRCm39)		probably benign	Het
Pmm1	C	T	15: 81,844,987 (GRCm39)	E6K	probably benign	Het
Ppp2r5c	G	A	12: 110,546,868 (GRCm39)	V454M	probably benign	Het
Ptprf	C	T	4: 118,106,095 (GRCm39)		probably null	Het
Pygm	G	A	19: 6,443,024 (GRCm39)		probably null	Het
Rimbp2	T	A	5: 128,874,912 (GRCm39)		probably benign	Het
Rps6ka5	A	T	12: 100,541,892 (GRCm39)		probably null	Het
Sfrp1	T	A	8: 23,902,354 (GRCm39)		probably benign	Het
Siglec15	T	A	18: 78,086,820 (GRCm39)		probably benign	Het
Smgc	A	G	15: 91,738,796 (GRCm39)	I485V	probably benign	Het
Tas2r124	A	G	6: 132,731,798 (GRCm39)	I36V	probably benign	Het
Trmt10b	G	T	4: 45,305,879 (GRCm39)	G185W	probably damaging	Het
Ttll4	A	G	1: 74,727,352 (GRCm39)	N798S	possibly damaging	Het
Ttn	G	T	2: 76,619,896 (GRCm39)	T15924N	probably damaging	Het
Utrn	A	T	10: 12,587,301 (GRCm39)	Y912N	possibly damaging	Het
Vmn2r113	T	C	17: 23,177,285 (GRCm39)	Y690H	probably benign	Het
Vmn2r51	T	C	7: 9,834,154 (GRCm39)	R295G	probably damaging	Het
Vpreb3	A	G	10: 75,784,231 (GRCm39)	T14A	probably benign	Het

Other mutations in Scarb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Scarb2	APN	5	92,594,203 (GRCm39)	missense	probably damaging	1.00
IGL02182:Scarb2	APN	5	92,601,913 (GRCm39)	missense	probably damaging	1.00
IGL02602:Scarb2	APN	5	92,596,415 (GRCm39)	missense	probably benign	0.12
IGL03260:Scarb2	APN	5	92,594,296 (GRCm39)	missense	probably damaging	1.00
scarab	UTSW	5	92,599,205 (GRCm39)	critical splice donor site	probably null
R1332:Scarb2	UTSW	5	92,599,205 (GRCm39)	critical splice donor site	probably null
R1335:Scarb2	UTSW	5	92,599,205 (GRCm39)	critical splice donor site	probably null
R1526:Scarb2	UTSW	5	92,594,200 (GRCm39)	missense	possibly damaging	0.50
R1748:Scarb2	UTSW	5	92,608,695 (GRCm39)	missense	probably damaging	1.00
R1779:Scarb2	UTSW	5	92,596,416 (GRCm39)	missense	probably benign	0.13
R1928:Scarb2	UTSW	5	92,592,125 (GRCm39)	missense	possibly damaging	0.50
R4952:Scarb2	UTSW	5	92,602,636 (GRCm39)	missense	probably damaging	0.97
R5702:Scarb2	UTSW	5	92,599,255 (GRCm39)	missense	probably damaging	1.00
R6868:Scarb2	UTSW	5	92,633,168 (GRCm39)	missense	probably benign	0.05
R7000:Scarb2	UTSW	5	92,601,934 (GRCm39)	missense	probably benign	0.00
R7429:Scarb2	UTSW	5	92,633,093 (GRCm39)	missense	probably benign	0.03
R8038:Scarb2	UTSW	5	92,599,307 (GRCm39)	missense	probably damaging	1.00
X0067:Scarb2	UTSW	5	92,608,716 (GRCm39)	missense	probably benign

Posted On

2014-02-04