Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02166:Scarf2'

282716

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 #

IGL02166

Quality Score

Status

Chromosome

Chromosomal Location

17615146-17626157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17621620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 357 (N357D)

Ref Sequence

ENSEMBL: ENSMUSP00000012161 (fasta)

Gene Model

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

AlphaFold

P59222

Predicted Effect

probably damaging
Transcript: ENSMUST00000012161
AA Change: N357D

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

SMART Domains

Protein: ENSMUSP00000012161
Gene: ENSMUSG00000012017
AA Change: N357D

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: N357D

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	A	G	13: 63,163,267 (GRCm39)	H96R	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cdh8	T	C	8: 99,917,083 (GRCm39)	D344G	probably damaging	Het
Ciao3	A	G	17: 25,999,294 (GRCm39)	D236G	possibly damaging	Het
Cltc	T	C	11: 86,594,914 (GRCm39)	I1399V	probably benign	Het
Col4a1	A	T	8: 11,294,509 (GRCm39)		probably benign	Het
Crtc3	C	T	7: 80,327,147 (GRCm39)	G60R	probably damaging	Het
Dscaml1	G	A	9: 45,594,999 (GRCm39)	V701M	probably damaging	Het
Eif3b	T	A	5: 140,425,705 (GRCm39)	C632S	possibly damaging	Het
Ephb3	G	A	16: 21,039,499 (GRCm39)	R417Q	probably damaging	Het
Fpr3	T	C	17: 18,190,726 (GRCm39)		probably benign	Het
Hpdl	A	G	4: 116,678,149 (GRCm39)	V104A	probably damaging	Het
Ighv1-55	T	C	12: 115,171,840 (GRCm39)	S76G	probably benign	Het
Ikbip	T	C	10: 90,931,652 (GRCm39)	S99P	probably damaging	Het
Lnpk	T	C	2: 74,360,061 (GRCm39)	E318G	probably damaging	Het
Lrrc66	G	A	5: 73,764,634 (GRCm39)	T803M	probably damaging	Het
Nxf2	C	A	X: 133,857,878 (GRCm39)	W89L	possibly damaging	Het
Or2y11	A	G	11: 49,442,757 (GRCm39)	Y61C	probably damaging	Het
Or5d46	A	T	2: 88,170,022 (GRCm39)	I38F	probably damaging	Het
Or6c3b	T	A	10: 129,527,782 (GRCm39)	I43F	probably benign	Het
Osbp2	A	T	11: 3,667,983 (GRCm39)	C5S	probably damaging	Het
Ovol2	T	C	2: 144,147,650 (GRCm39)	N200S	possibly damaging	Het
Ppp4r1	A	G	17: 66,120,487 (GRCm39)	D207G	probably benign	Het
Prdm11	C	T	2: 92,843,208 (GRCm39)	V84M	probably damaging	Het
Rspo3	T	A	10: 29,411,275 (GRCm39)	E17V	possibly damaging	Het
Scn9a	A	T	2: 66,323,447 (GRCm39)	D1447E	possibly damaging	Het
Sdad1	G	A	5: 92,439,621 (GRCm39)	T433I	probably benign	Het
Seh1l	A	G	18: 67,918,093 (GRCm39)	N149S	probably damaging	Het
Sigirr	T	C	7: 140,672,140 (GRCm39)	I268M	probably benign	Het
Slc35d2	A	G	13: 64,246,162 (GRCm39)	F282S	probably damaging	Het
Slc4a1	A	T	11: 102,245,159 (GRCm39)	M596K	probably damaging	Het
Spta1	G	A	1: 174,017,797 (GRCm39)	E494K	probably damaging	Het
Stk32b	C	A	5: 37,656,374 (GRCm39)		probably benign	Het
Tex13b	T	C	X: 139,713,475 (GRCm39)	E122G	probably damaging	Het
Tmem35a	A	G	X: 133,205,357 (GRCm39)	N91S	probably damaging	Het
Tmem67	A	G	4: 12,047,313 (GRCm39)	V841A	possibly damaging	Het
Trdv2-1	A	G	14: 54,184,068 (GRCm39)	D100G	probably benign	Het
Tshz3	T	C	7: 36,468,346 (GRCm39)	S112P	probably benign	Het
Tssc4	T	C	7: 142,623,938 (GRCm39)	M82T	probably benign	Het
Ttn	A	G	2: 76,562,723 (GRCm39)	S28744P	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vim	T	C	2: 13,579,405 (GRCm39)	S55P	probably damaging	Het
Zmat5	T	A	11: 4,687,363 (GRCm39)	Y139N	possibly damaging	Het
Zswim2	G	A	2: 83,745,750 (GRCm39)	Q563*	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
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

2015-04-16