Mutagenetix > Incidental Mutation

Incidental Mutation 'R7429:Scarb2'

576307

Institutional Source

Beutler Lab

Gene Symbol

Scarb2

Ensembl Gene

ENSMUSG00000029426

Gene Name

scavenger receptor class B, member 2

Synonyms

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

MMRRC Submission

045507-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7429 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92589170-92653516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92633093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 80 (I80V)

Ref Sequence

ENSEMBL: ENSMUSP00000031377 (fasta)

Gene Model

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

AlphaFold

O35114

Predicted Effect

probably benign
Transcript: ENSMUST00000031377
AA Change: I80V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000031377
Gene: ENSMUSG00000029426
AA Change: I80V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (71/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,859,028 (GRCm39)	C60R	unknown	Het
A430033K04Rik	A	G	5: 138,634,445 (GRCm39)	D20G	possibly damaging	Het
Aadacl4fm2	T	A	4: 144,291,626 (GRCm39)	I27F	probably benign	Het
Abca9	CA	C	11: 110,018,252 (GRCm39)		probably null	Het
Ankle2	C	T	5: 110,382,384 (GRCm39)	T120I	possibly damaging	Het
Ap2b1	C	T	11: 83,258,824 (GRCm39)	T765I	probably benign	Het
Atp8b4	A	T	2: 126,245,291 (GRCm39)	V286E	possibly damaging	Het
Brms1l	T	C	12: 55,892,084 (GRCm39)	L126P	probably damaging	Het
Btbd7	T	C	12: 102,804,039 (GRCm39)	T334A	probably damaging	Het
Cdh18	T	C	15: 23,366,942 (GRCm39)	V216A	possibly damaging	Het
Chka	A	G	19: 3,942,787 (GRCm39)	Y415C	probably damaging	Het
Cnih1	C	T	14: 47,017,679 (GRCm39)	V52I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,770 (GRCm39)	M145K	probably damaging	Het
Cubn	G	T	2: 13,327,804 (GRCm39)	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,550,341 (GRCm39)	E692G	probably damaging	Het
Dido1	G	A	2: 180,331,319 (GRCm39)	T43M	possibly damaging	Het
Edc4	T	C	8: 106,618,216 (GRCm39)	S1245P	probably damaging	Het
Enpp1	G	T	10: 24,587,848 (GRCm39)	H14Q	probably benign	Het
Etaa1	C	T	11: 17,890,281 (GRCm39)	R860Q	probably damaging	Het
Fam181b	G	A	7: 92,729,403 (GRCm39)	V59M	probably benign	Het
Fam184b	G	A	5: 45,698,230 (GRCm39)	T655I	probably benign	Het
Fcgr3	A	G	1: 170,885,442 (GRCm39)	M61T	probably benign	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Frmd3	A	G	4: 74,063,342 (GRCm39)	D223G	probably damaging	Het
Galnt4	A	G	10: 98,945,610 (GRCm39)	H445R	probably damaging	Het
Gm44501	A	G	17: 40,887,517 (GRCm39)	T12A	probably null	Het
Hnrnpll	T	A	17: 80,357,276 (GRCm39)	I247F	probably damaging	Het
Hs3st4	T	C	7: 123,996,605 (GRCm39)	F424L	probably damaging	Het
Ifi206	A	T	1: 173,308,157 (GRCm39)	V613E		Het
Insig1	T	C	5: 28,280,077 (GRCm39)	F223S	probably damaging	Het
Iqgap1	C	T	7: 80,401,188 (GRCm39)	E500K	probably benign	Het
Itgav	G	A	2: 83,624,602 (GRCm39)	V731M	probably damaging	Het
Lrrfip2	T	G	9: 111,014,194 (GRCm39)		probably null	Het
Mark4	C	A	7: 19,160,092 (GRCm39)	G723C	probably damaging	Het
Marveld3	A	G	8: 110,675,100 (GRCm39)	S239P	possibly damaging	Het
Mast3	A	C	8: 71,232,947 (GRCm39)	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,535,297 (GRCm39)	I198M	probably benign	Het
Mup14	C	T	4: 61,259,447 (GRCm39)	G35E	probably damaging	Het
Myo1a	T	A	10: 127,542,716 (GRCm39)	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,835,035 (GRCm39)	T794A	probably benign	Het
Or1p1c	T	A	11: 74,160,579 (GRCm39)	D121E	probably damaging	Het
Or51g2	A	T	7: 102,622,969 (GRCm39)	S77T	probably damaging	Het
Or7g16	T	C	9: 18,726,650 (GRCm39)	*313W	probably null	Het
Pde6c	T	A	19: 38,129,887 (GRCm39)	Y266N	probably damaging	Het
Pde9a	T	C	17: 31,689,680 (GRCm39)	L435P	probably damaging	Het
Pgm1	T	A	4: 99,813,192 (GRCm39)	M1K	probably null	Het
Plcb4	T	C	2: 135,810,242 (GRCm39)	Y626H	probably damaging	Het
Rnf10	T	C	5: 115,386,739 (GRCm39)	N517D	probably damaging	Het
Rpap3	A	T	15: 97,586,031 (GRCm39)	L320Q	possibly damaging	Het
Rptor	T	C	11: 119,737,654 (GRCm39)	W576R	probably damaging	Het
Serpinc1	A	G	1: 160,823,011 (GRCm39)	T251A	probably benign	Het
Sgk3	A	G	1: 9,942,483 (GRCm39)	D85G	probably benign	Het
Sipa1l3	T	C	7: 29,086,631 (GRCm39)	D653G	probably benign	Het
Slc2a1	A	G	4: 118,993,510 (GRCm39)	Y449C	probably damaging	Het
Snx13	T	C	12: 35,183,357 (GRCm39)	V760A	possibly damaging	Het
Snx7	T	C	3: 117,630,861 (GRCm39)	N249S	probably benign	Het
Soat2	C	A	15: 102,062,735 (GRCm39)	H124Q	probably damaging	Het
Sugt1	T	A	14: 79,857,241 (GRCm39)		probably null	Het
Syne2	C	T	12: 75,980,770 (GRCm39)	T1509M	probably damaging	Het
Syne2	T	A	12: 76,087,184 (GRCm39)	L214*	probably null	Het
Taok2	T	C	7: 126,469,849 (GRCm39)	Q993R	possibly damaging	Het
Tmem161b	A	G	13: 84,430,866 (GRCm39)		probably null	Het
Tspan17	G	A	13: 54,943,785 (GRCm39)	E213K	probably benign	Het
Ttc6	T	A	12: 57,704,888 (GRCm39)	I631N	probably benign	Het
Ttn	T	A	2: 76,641,283 (GRCm39)	L13574F	probably damaging	Het
U2af1l4	A	G	7: 30,262,815 (GRCm39)	E12G	probably benign	Het
Usp39	T	C	6: 72,319,900 (GRCm39)	Y106C	probably damaging	Het
Vmn1r185	A	C	7: 26,310,603 (GRCm39)	F301V	probably benign	Het
Zbp1	T	A	2: 173,055,611 (GRCm39)	K184N	unknown	Het
Zfp438	A	G	18: 5,214,139 (GRCm39)	V273A	probably benign	Het
Zswim5	A	G	4: 116,833,054 (GRCm39)	T596A	possibly damaging	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
IGL01743:Scarb2	APN	5	92,608,662 (GRCm39)	missense	probably benign	0.01
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
R8038:Scarb2	UTSW	5	92,599,307 (GRCm39)	missense	probably damaging	1.00
X0067:Scarb2	UTSW	5	92,608,716 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGCTCTGTTGCGGAAACTC -3'
(R):5'- GATAGGAAATGTCTATCCCATGTTC -3'

Sequencing Primer
(F):5'- TCTGTTGCGGAAACTCCCCAG -3'
(R):5'- CATGTTCAGAAGCAGTGGCCTTAC -3'

Posted On

2019-10-07