Mutagenetix > Incidental Mutation

Incidental Mutation 'R1748:Scarb2'

194110

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

039780-MU

Accession Numbers

Essential gene?

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

Stock #

R1748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92589170-92653516 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92608695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 177 (L177P)

Ref Sequence

ENSEMBL: ENSMUSP00000031377 (fasta)

Gene Model

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

AlphaFold

O35114

Predicted Effect

probably damaging
Transcript: ENSMUST00000031377
AA Change: L177P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031377
Gene: ENSMUSG00000029426
AA Change: L177P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184064

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,152,338 (GRCm39)	Q1403K	probably benign	Het
Adamts12	G	A	15: 11,241,548 (GRCm39)	M373I	probably damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Aire	T	C	10: 77,879,314 (GRCm39)	H15R	probably damaging	Het
Aldh3b2	T	C	19: 4,027,572 (GRCm39)	F38L	probably damaging	Het
Alk	A	C	17: 72,910,416 (GRCm39)	C97G	probably benign	Het
Ano8	T	C	8: 71,931,602 (GRCm39)		probably benign	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arsk	T	A	13: 76,210,529 (GRCm39)	H506L	probably benign	Het
Asgr2	G	T	11: 69,987,658 (GRCm39)	R52L	probably damaging	Het
Atp2a1	A	G	7: 126,058,780 (GRCm39)	I145T	possibly damaging	Het
Atrnl1	A	G	19: 57,703,134 (GRCm39)	T1051A	probably damaging	Het
Cacna1e	A	T	1: 154,362,315 (GRCm39)	V424D	possibly damaging	Het
Capn3	T	C	2: 120,327,494 (GRCm39)	V574A	probably benign	Het
Capzb	C	A	4: 138,984,679 (GRCm39)	D67E	probably damaging	Het
Ccdc68	A	T	18: 70,089,062 (GRCm39)	T202S	probably benign	Het
Ccser2	T	C	14: 36,618,270 (GRCm39)	K123R	probably damaging	Het
Ccser2	T	A	14: 36,618,271 (GRCm39)	K123*	probably null	Het
Ces2h	T	C	8: 105,744,473 (GRCm39)	I316T	probably benign	Het
Chd3	T	G	11: 69,255,523 (GRCm39)	K122Q	possibly damaging	Het
Col12a1	T	C	9: 79,580,279 (GRCm39)	T1533A	probably benign	Het
Cr2	T	A	1: 194,838,213 (GRCm39)	K1084*	probably null	Het
Ddx28	A	G	8: 106,737,314 (GRCm39)	L248P	probably benign	Het
Depdc5	A	G	5: 33,075,286 (GRCm39)	E488G	probably benign	Het
Dld	T	C	12: 31,384,745 (GRCm39)	T305A	probably benign	Het
Dok5	T	A	2: 170,683,373 (GRCm39)	F211L	probably damaging	Het
Duox2	T	C	2: 122,117,532 (GRCm39)	D934G	probably benign	Het
Eif3a	G	A	19: 60,755,236 (GRCm39)	T982I	unknown	Het
Erbb2	G	T	11: 98,326,161 (GRCm39)	R979L	probably benign	Het
Espl1	G	T	15: 102,206,964 (GRCm39)	V143L	possibly damaging	Het
Fanci	T	C	7: 79,080,236 (GRCm39)	L598P	probably damaging	Het
Fat2	T	A	11: 55,147,473 (GRCm39)	E3923V	probably damaging	Het
Fhod3	A	T	18: 24,903,550 (GRCm39)	K95*	probably null	Het
Gpr108	G	T	17: 57,543,217 (GRCm39)	T484K	probably damaging	Het
Hao1	T	A	2: 134,340,238 (GRCm39)	N351I	possibly damaging	Het
Hepacam	A	T	9: 37,295,189 (GRCm39)	N308I	possibly damaging	Het
Herc2	T	C	7: 55,798,571 (GRCm39)		probably null	Het
Hltf	T	C	3: 20,130,685 (GRCm39)	I301T	probably benign	Het
Igsf10	A	T	3: 59,226,514 (GRCm39)	N2386K	probably damaging	Het
Ikbke	G	T	1: 131,186,937 (GRCm39)	T585K	probably benign	Het
Iqgap3	A	G	3: 88,021,287 (GRCm39)	T448A	possibly damaging	Het
Kl	T	C	5: 150,904,450 (GRCm39)	S401P	possibly damaging	Het
Lama4	T	C	10: 38,941,615 (GRCm39)	V684A	probably benign	Het
Lgals8	A	T	13: 12,469,824 (GRCm39)	F45Y	probably damaging	Het
Lgalsl	G	A	11: 20,776,491 (GRCm39)	R134C	probably benign	Het
Lmcd1	T	C	6: 112,306,875 (GRCm39)	V349A	probably benign	Het
Lrp1b	T	A	2: 41,618,718 (GRCm39)	N119Y	possibly damaging	Het
Lrrc73	T	A	17: 46,566,621 (GRCm39)	I157N	probably damaging	Het
Map3k8	A	G	18: 4,334,766 (GRCm39)	Y293H	probably damaging	Het
Mybphl	A	T	3: 108,282,400 (GRCm39)		probably null	Het
Naa12	T	C	18: 80,255,161 (GRCm39)	S152P	probably benign	Het
Ndrg1	A	G	15: 66,802,930 (GRCm39)	M140T	possibly damaging	Het
Or2n1e	T	A	17: 38,585,997 (GRCm39)	C112S	possibly damaging	Het
Or8b38	A	G	9: 37,972,796 (GRCm39)	Y60C	probably damaging	Het
Pbx2	T	C	17: 34,812,951 (GRCm39)	S76P	possibly damaging	Het
Plcl2	T	A	17: 50,913,826 (GRCm39)	S278R	probably benign	Het
Polr3d	A	T	14: 70,676,915 (GRCm39)	L393*	probably null	Het
Prmt6	T	C	3: 110,157,683 (GRCm39)	Q202R	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sag	T	A	1: 87,759,662 (GRCm39)	I300N	probably damaging	Het
Sap25	T	A	5: 137,640,180 (GRCm39)		probably null	Het
Sh3pxd2b	A	T	11: 32,372,203 (GRCm39)	N457Y	possibly damaging	Het
Siae	T	A	9: 37,542,902 (GRCm39)		probably null	Het
Slc36a1	T	C	11: 55,119,150 (GRCm39)	L375P	probably damaging	Het
Smg8	A	G	11: 86,976,594 (GRCm39)	V329A	probably damaging	Het
Tas2r113	A	T	6: 132,870,695 (GRCm39)	Y241F	probably damaging	Het
Tm9sf3	T	G	19: 41,244,668 (GRCm39)	S70R	probably benign	Het
Tmem144	C	T	3: 79,732,594 (GRCm39)	S228N	probably damaging	Het
Tmem45a	C	A	16: 56,642,701 (GRCm39)	V157F	possibly damaging	Het
Tpbg	G	T	9: 85,726,429 (GRCm39)	V133L	probably damaging	Het
Trpv3	G	A	11: 73,186,209 (GRCm39)	V667I	possibly damaging	Het
Ube2c	T	C	2: 164,613,241 (GRCm39)	F53S	probably damaging	Het
Vmn1r78	T	A	7: 11,887,250 (GRCm39)	V287D	probably damaging	Het
Vmn2r114	T	A	17: 23,527,035 (GRCm39)	D499V	probably benign	Het
Zpld2	C	G	4: 133,927,610 (GRCm39)	C381S	probably damaging	Het
Zpld2	T	A	4: 133,929,430 (GRCm39)	T292S	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
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

Predicted Primers

PCR Primer
(F):5'- ATGCATTCTGGCTTGTGTGCCC -3'
(R):5'- GGCATCATTCAGAGCCTCCTAAAGG -3'

Sequencing Primer
(F):5'- GGCTTGTGTGCCCTCTTC -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2014-05-23