Mutagenetix > Incidental Mutation

Incidental Mutation 'R6742:Scarf2'

530512

Institutional Source

Beutler Lab

Gene Symbol

Scarf2

Ensembl Gene

ENSMUSG00000012017

Gene Name

scavenger receptor class F, member 2

Synonyms

Srec2, SREC-II

MMRRC Submission

044859-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6742 (G1)

Quality Score

199.009

Status

Validated

Chromosome

Chromosomal Location

17615146-17626157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17624351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 552 (C552Y)

Ref Sequence

ENSEMBL: ENSMUSP00000156358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012161] [ENSMUST00000232577]

AlphaFold

P59222

Predicted Effect

probably damaging
Transcript: ENSMUST00000012161
AA Change: C552Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000012161
Gene: ENSMUSG00000012017
AA Change: C552Y

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
EGF	71	102	4.56e0	SMART
EGF	113	145	2.43e1	SMART
EGF	147	174	2.03e1	SMART
EGF_like	207	233	1.68e0	SMART
EGF	235	262	1.73e1	SMART
EGF_like	309	352	2.86e1	SMART
EGF_like	323	364	4.97e0	SMART
EGF_like	367	407	8.13e-1	SMART
low complexity region	437	459	N/A	INTRINSIC
low complexity region	530	541	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	597	606	N/A	INTRINSIC
low complexity region	616	632	N/A	INTRINSIC
low complexity region	636	656	N/A	INTRINSIC
low complexity region	665	685	N/A	INTRINSIC
low complexity region	702	726	N/A	INTRINSIC
low complexity region	781	802	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000231301
AA Change: C66Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231383

Predicted Effect

probably damaging
Transcript: ENSMUST00000232577
AA Change: C552Y

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

Meta Mutation Damage Score

0.1362

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

100% (46/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to SCARF1/SREC-I, a scavenger receptor protein that mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). This protein has only little activity of internalizing modified low density lipoproteins (LDL), but it can interact with SCARF1 through its extracellular domain. The association of this protein with SCARF1 is suppressed by the presence of scavenger ligands. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,654,995 (GRCm39)	R1440G	probably benign	Het
Abca13	T	A	11: 9,278,168 (GRCm39)	L3116Q	probably damaging	Het
Adgb	G	A	10: 10,287,593 (GRCm39)	H55Y	probably damaging	Het
AI182371	G	T	2: 34,974,717 (GRCm39)		probably benign	Het
Ank3	T	C	10: 69,827,412 (GRCm39)		probably benign	Het
Ccdc127	G	T	13: 74,501,042 (GRCm39)	G20W	probably damaging	Het
Ccdc149	G	A	5: 52,562,475 (GRCm39)	Q184*	probably null	Het
Cntrob	G	A	11: 69,213,749 (GRCm39)	P14S	probably damaging	Het
Dnah11	T	C	12: 118,077,629 (GRCm39)	E1288G	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Evpl	T	C	11: 116,113,640 (GRCm39)	D1350G	possibly damaging	Het
Fasn	T	C	11: 120,701,279 (GRCm39)	T1990A	probably damaging	Het
Itga2	T	A	13: 114,973,061 (GRCm39)	N1166I	possibly damaging	Het
Lmtk2	T	A	5: 144,085,175 (GRCm39)	C216S	probably damaging	Het
Lrp1b	T	C	2: 41,361,132 (GRCm39)	D557G	probably benign	Het
Lrrc32	T	C	7: 98,148,039 (GRCm39)	V273A	probably benign	Het
Nlrp4f	C	T	13: 65,335,254 (GRCm39)		probably null	Het
Ntng2	T	G	2: 29,090,940 (GRCm39)	M360L	probably benign	Het
Pik3c2b	A	G	1: 133,003,559 (GRCm39)	S504G	probably benign	Het
Ppfia4	A	C	1: 134,256,909 (GRCm39)	L104R	probably damaging	Het
Raph1	A	G	1: 60,564,879 (GRCm39)	S203P	probably damaging	Het
Rbl1	G	A	2: 157,011,918 (GRCm39)	T679I	probably benign	Het
Rnase4	G	T	14: 51,342,486 (GRCm39)	R70L	probably benign	Het
Rnf146	A	C	10: 29,223,528 (GRCm39)	D119E	probably damaging	Het
Rrp1b	A	G	17: 32,275,908 (GRCm39)	H485R	probably benign	Het
Rwdd4a	T	A	8: 48,000,998 (GRCm39)		probably null	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Sox10	T	C	15: 79,040,676 (GRCm39)	N127S	probably damaging	Het
Speer4a1	A	T	5: 26,241,054 (GRCm39)		probably null	Het
Tars1	A	T	15: 11,394,427 (GRCm39)	I70N	probably damaging	Het
Thsd7a	C	T	6: 12,408,815 (GRCm39)	V736M	probably damaging	Het
Timp3	G	A	10: 86,136,742 (GRCm39)	V9M	probably benign	Het
Tnfrsf1a	A	T	6: 125,333,911 (GRCm39)	N55Y	probably damaging	Het
Trim43a	G	A	9: 88,470,399 (GRCm39)	V402I	possibly damaging	Het
Tshz2	A	G	2: 169,725,677 (GRCm39)	D91G	probably damaging	Het
Ubac1	T	C	2: 25,895,418 (GRCm39)	D345G	possibly damaging	Het
Usp4	G	A	9: 108,251,438 (GRCm39)	V538I	possibly damaging	Het
Vmn2r19	A	T	6: 123,306,917 (GRCm39)	Y475F	possibly damaging	Het
Vmn2r87	A	T	10: 130,308,396 (GRCm39)	V614E	probably damaging	Het
Wfdc2	A	T	2: 164,404,706 (GRCm39)	T21S	probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zfp78	A	G	7: 6,381,277 (GRCm39)	E109G	probably damaging	Het
Zfp873	C	A	10: 81,894,256 (GRCm39)	A19D	probably damaging	Het
Zfp935	T	A	13: 62,602,293 (GRCm39)	K302N	probably damaging	Het
Zfpm2	G	A	15: 40,965,114 (GRCm39)	S401N	probably benign	Het

Other mutations in Scarf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Scarf2	APN	16	17,620,413 (GRCm39)	missense	probably damaging	1.00
IGL02166:Scarf2	APN	16	17,621,620 (GRCm39)	missense	probably damaging	0.99
IGL02604:Scarf2	APN	16	17,621,608 (GRCm39)	missense	probably damaging	0.97
IGL03155:Scarf2	APN	16	17,625,413 (GRCm39)	missense	probably benign	0.00
R0639:Scarf2	UTSW	16	17,624,369 (GRCm39)	splice site	probably null
R1703:Scarf2	UTSW	16	17,620,713 (GRCm39)	missense	probably damaging	0.99
R2182:Scarf2	UTSW	16	17,620,886 (GRCm39)	missense	probably damaging	1.00
R4730:Scarf2	UTSW	16	17,620,877 (GRCm39)	missense	probably damaging	0.99
R4744:Scarf2	UTSW	16	17,621,380 (GRCm39)	missense	probably damaging	0.99
R4798:Scarf2	UTSW	16	17,621,371 (GRCm39)	missense	probably damaging	1.00
R5521:Scarf2	UTSW	16	17,621,466 (GRCm39)	critical splice donor site	probably null
R5994:Scarf2	UTSW	16	17,624,243 (GRCm39)	missense	probably damaging	0.99
R7264:Scarf2	UTSW	16	17,621,154 (GRCm39)	missense	possibly damaging	0.63
R7286:Scarf2	UTSW	16	17,620,837 (GRCm39)	nonsense	probably null
R7385:Scarf2	UTSW	16	17,621,702 (GRCm39)	missense	probably damaging	1.00
R7409:Scarf2	UTSW	16	17,624,918 (GRCm39)	missense	probably damaging	0.99
R7812:Scarf2	UTSW	16	17,621,692 (GRCm39)	missense	probably damaging	1.00
R8442:Scarf2	UTSW	16	17,624,231 (GRCm39)	missense	probably benign	0.43
R8803:Scarf2	UTSW	16	17,620,695 (GRCm39)	missense	probably damaging	0.98
R8865:Scarf2	UTSW	16	17,620,974 (GRCm39)	missense	probably damaging	1.00
R8987:Scarf2	UTSW	16	17,622,768 (GRCm39)	missense	probably damaging	0.99
R9047:Scarf2	UTSW	16	17,624,270 (GRCm39)	missense	probably damaging	0.96
R9594:Scarf2	UTSW	16	17,620,473 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCATGACCACTTTGTTCATGG -3'
(R):5'- GTCTCTGTACAGAACCTCAGC -3'

Sequencing Primer
(F):5'- ATGACCACTTTGTTCATGGTTAGC -3'
(R):5'- CTGTACAGAACCTCAGCTTTGTAG -3'

Posted On

2018-08-01