Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03155:Scarf2'

411236

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scarf2

Ensembl Gene

ENSMUSG00000012017

Gene Name

scavenger receptor class F, member 2

Synonyms

Srec2, SREC-II

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03155

Quality Score

Status

Chromosome

Chromosomal Location

17615146-17626157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 17625413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 823 (P823S)

Ref Sequence

ENSEMBL: ENSMUSP00000012161 (fasta)

Gene Model

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

AlphaFold

P59222

Predicted Effect

probably benign
Transcript: ENSMUST00000012161
AA Change: P823S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000012161
Gene: ENSMUSG00000012017
AA Change: P823S

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 benign
Transcript: ENSMUST00000231301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231383

Predicted Effect

probably benign
Transcript: ENSMUST00000232577

Coding Region Coverage

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	C	T	2: 131,388,001 (GRCm39)	R518H	probably benign	Het
Akr7a5	T	A	4: 139,041,837 (GRCm39)	C190*	probably null	Het
Cct2	A	T	10: 116,896,576 (GRCm39)	L209Q	probably damaging	Het
Chordc1	T	A	9: 18,215,616 (GRCm39)	S123T	possibly damaging	Het
Crtap	T	C	9: 114,209,117 (GRCm39)	D309G	possibly damaging	Het
Csf2	T	C	11: 54,138,497 (GRCm39)	T115A	possibly damaging	Het
Dgkb	T	A	12: 38,189,458 (GRCm39)	I287N	probably damaging	Het
Dyrk1b	G	A	7: 27,882,112 (GRCm39)	D98N	probably benign	Het
Eif4g1	T	C	16: 20,511,167 (GRCm39)	S1550P	probably damaging	Het
Fam83e	A	G	7: 45,376,499 (GRCm39)	E404G	possibly damaging	Het
Fryl	G	A	5: 73,234,038 (GRCm39)	P1496S	probably benign	Het
Fsip1	A	T	2: 118,082,220 (GRCm39)	N71K	probably benign	Het
Gm5092	A	T	17: 21,314,970 (GRCm39)		noncoding transcript	Het
Gnb1l	T	A	16: 18,359,282 (GRCm39)		probably null	Het
Got1l1	T	C	8: 27,689,360 (GRCm39)	Y233C	probably damaging	Het
Katnbl1	T	A	2: 112,239,577 (GRCm39)		probably null	Het
Kcnn2	A	G	18: 45,818,382 (GRCm39)	E493G	probably damaging	Het
Kif26b	C	T	1: 178,701,693 (GRCm39)	R691W	probably damaging	Het
Lrp2	A	T	2: 69,285,796 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,241,861 (GRCm39)	S107P	probably damaging	Het
Mrc1	A	G	2: 14,335,912 (GRCm39)	N1433D	probably benign	Het
Mycbp2	G	A	14: 103,392,889 (GRCm39)	S3114L	probably benign	Het
Naip6	T	A	13: 100,452,932 (GRCm39)	H43L	possibly damaging	Het
Nin	A	T	12: 70,078,544 (GRCm39)	C1681S	probably damaging	Het
Nnmt	C	T	9: 48,503,352 (GRCm39)	V225M	probably damaging	Het
Or2ag1b	A	T	7: 106,288,446 (GRCm39)	M164K	probably damaging	Het
Or4c125	A	T	2: 89,170,310 (GRCm39)	M112K	probably damaging	Het
Phf21a	T	G	2: 92,150,611 (GRCm39)	V64G	probably damaging	Het
Ptprd	A	T	4: 75,984,456 (GRCm39)	S800R	possibly damaging	Het
Scn5a	T	C	9: 119,341,248 (GRCm39)	T1212A	possibly damaging	Het
Slc38a10	C	T	11: 119,995,945 (GRCm39)	V1043I	probably damaging	Het
Stxbp5	A	T	10: 9,692,034 (GRCm39)	L370Q	probably null	Het
Tas1r2	T	C	4: 139,396,467 (GRCm39)	V602A	possibly damaging	Het
Tatdn1	T	C	15: 58,788,045 (GRCm39)		probably benign	Het
Tdrd6	A	T	17: 43,936,398 (GRCm39)	L1550Q	probably damaging	Het
Tet3	G	T	6: 83,345,365 (GRCm39)	R1556S	probably damaging	Het
Tnpo2	T	A	8: 85,771,709 (GRCm39)	I249N	probably benign	Het
Tnxb	G	T	17: 34,932,569 (GRCm39)	V2263F	probably damaging	Het
Trim75	C	T	8: 65,435,992 (GRCm39)	V153M	possibly damaging	Het
Ttc21a	T	A	9: 119,773,042 (GRCm39)		probably null	Het
Tuft1	T	A	3: 94,541,821 (GRCm39)	I61L	possibly damaging	Het
Usp43	T	C	11: 67,767,315 (GRCm39)	D680G	probably damaging	Het
Vac14	A	G	8: 111,362,975 (GRCm39)	I274V	possibly damaging	Het
Vmn1r222	T	A	13: 23,416,863 (GRCm39)	R117W	probably damaging	Het
Vmn1r83	T	C	7: 12,055,617 (GRCm39)	M147V	probably benign	Het
Vmn2r43	T	A	7: 8,258,068 (GRCm39)	I382L	possibly damaging	Het
Vmn2r63	C	T	7: 42,552,878 (GRCm39)	V793I	probably damaging	Het
Vopp1	A	G	6: 57,739,492 (GRCm39)	Y19H	possibly damaging	Het
Yeats2	T	C	16: 20,048,323 (GRCm39)		probably null	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
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
R6742:Scarf2	UTSW	16	17,624,351 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02