Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01543:Scarf2'

90206

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 #

IGL01543

Quality Score

Status

Chromosome

Chromosomal Location

17615146-17626157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17620413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 81 (N81S)

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: N81S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000012161
Gene: ENSMUSG00000012017
AA Change: N81S

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 damaging
Transcript: ENSMUST00000232577
AA Change: N81S

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	T	C	3: 59,932,097 (GRCm39)	I204T	probably benign	Het
Abhd16a	T	C	17: 35,310,013 (GRCm39)	S69P	probably damaging	Het
Ampd1	C	T	3: 103,003,029 (GRCm39)	T582I	probably benign	Het
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Arid1a	A	T	4: 133,409,033 (GRCm39)	F1825I	unknown	Het
Asxl1	G	A	2: 153,243,404 (GRCm39)	G1318D	probably benign	Het
B4galnt3	G	A	6: 120,186,273 (GRCm39)	H807Y	probably benign	Het
Bpifb5	G	T	2: 154,075,169 (GRCm39)	V366F	possibly damaging	Het
Caskin1	T	C	17: 24,723,522 (GRCm39)	V770A	probably benign	Het
Ccdc152	G	A	15: 3,327,606 (GRCm39)	T57I	possibly damaging	Het
Ccs	T	C	19: 4,884,269 (GRCm39)	E61G	possibly damaging	Het
Chsy3	G	A	18: 59,543,472 (GRCm39)	W870*	probably null	Het
Col8a1	G	A	16: 57,448,097 (GRCm39)	P471L	unknown	Het
Cyp2j6	A	C	4: 96,414,161 (GRCm39)	V368G	possibly damaging	Het
Dnajc3	T	C	14: 119,198,274 (GRCm39)		probably null	Het
Dpep3	A	T	8: 106,702,814 (GRCm39)	M316K	probably damaging	Het
Galntl5	A	G	5: 25,400,349 (GRCm39)	E126G	probably damaging	Het
Gli1	T	C	10: 127,168,347 (GRCm39)	N502S	probably damaging	Het
Hus1	A	G	11: 8,950,082 (GRCm39)	L213P	probably benign	Het
Hypk	A	G	2: 121,287,776 (GRCm39)		probably null	Het
Igkv4-59	T	A	6: 69,415,345 (GRCm39)	Y70F	probably damaging	Het
Impdh1	A	C	6: 29,203,377 (GRCm39)	V14G	probably damaging	Het
Kif26b	A	G	1: 178,506,526 (GRCm39)	M201V	probably benign	Het
Macf1	A	G	4: 123,295,250 (GRCm39)	I5323T	probably damaging	Het
Mmp16	C	T	4: 18,051,743 (GRCm39)	A244V	probably damaging	Het
Obscn	T	C	11: 58,932,943 (GRCm39)	D5619G	probably benign	Het
Or2ag20	T	C	7: 106,465,125 (GRCm39)	S313P	probably benign	Het
Pcdh7	T	C	5: 57,878,107 (GRCm39)	V554A	probably damaging	Het
Piezo2	T	C	18: 63,203,101 (GRCm39)	E1513G	probably damaging	Het
Rab6b	A	G	9: 103,039,837 (GRCm39)	D75G	probably damaging	Het
Ryr1	T	C	7: 28,790,501 (GRCm39)	Y1435C	probably damaging	Het
Six5	G	A	7: 18,830,272 (GRCm39)	A300T	possibly damaging	Het
Skap2	T	A	6: 51,989,375 (GRCm39)	N3Y	possibly damaging	Het
Skint6	A	T	4: 112,757,160 (GRCm39)	S734T	probably benign	Het
Slc15a4	A	C	5: 127,680,830 (GRCm39)	H396Q	probably benign	Het
Slco6c1	A	G	1: 97,053,553 (GRCm39)	M116T	possibly damaging	Het
Slfn9	T	C	11: 82,878,775 (GRCm39)	D118G	probably benign	Het
Trim3	T	C	7: 105,262,520 (GRCm39)	D546G	probably damaging	Het
Trpa1	A	G	1: 14,970,300 (GRCm39)	L362P	probably damaging	Het
Vasn	A	G	16: 4,467,756 (GRCm39)	T568A	possibly damaging	Het
Vwa5b2	A	G	16: 20,414,466 (GRCm39)	M281V	probably benign	Het
Wwp2	A	G	8: 108,210,000 (GRCm39)	E126G	probably damaging	Het
Zfp398	G	A	6: 47,842,997 (GRCm39)	G350S	probably damaging	Het

Other mutations in Scarf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-12-03