Mutagenetix > Incidental Mutation

Incidental Mutation 'R8442:Scarf2'

654263

Institutional Source

Beutler Lab

Gene Symbol

Scarf2

Ensembl Gene

ENSMUSG00000012017

Gene Name

scavenger receptor class F, member 2

Synonyms

Srec2, SREC-II

MMRRC Submission

067779-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8442 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

17615146-17626157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17624231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 512 (D512G)

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: D512G

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000012161
Gene: ENSMUSG00000012017
AA Change: D512G

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

possibly damaging
Transcript: ENSMUST00000232577
AA Change: D512G

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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
Apof	T	C	10: 128,104,891 (GRCm39)	L15P	probably damaging	Het
BC048671	T	C	6: 90,282,095 (GRCm39)	F84S	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
C2cd4a	C	T	9: 67,739,039 (GRCm39)	M1I	probably null	Het
Cd72	T	A	4: 43,450,109 (GRCm39)	K266N	possibly damaging	Het
Col12a1	A	G	9: 79,542,781 (GRCm39)	F2328S	probably damaging	Het
Cubn	T	C	2: 13,318,855 (GRCm39)	Y2948C	probably damaging	Het
Dagla	A	G	19: 10,240,456 (GRCm39)		probably null	Het
Dagla	A	G	19: 10,248,883 (GRCm39)	F24L	probably damaging	Het
Dnah14	A	G	1: 181,568,849 (GRCm39)	T2860A	probably damaging	Het
Efcab2	A	T	1: 178,265,001 (GRCm39)	K22N	probably benign	Het
Flt1	C	T	5: 147,512,983 (GRCm39)	R1118Q	probably damaging	Het
Foxl1	T	A	8: 121,855,224 (GRCm39)	L175Q	possibly damaging	Het
Gm572	G	T	4: 148,743,450 (GRCm39)	R140L	possibly damaging	Het
Gucy2g	T	C	19: 55,205,833 (GRCm39)	R676G	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hspb8	T	C	5: 116,560,504 (GRCm39)	Y12C	probably damaging	Het
Igf2bp2	A	C	16: 21,883,841 (GRCm39)		probably null	Het
Igkv9-129	T	A	6: 67,816,784 (GRCm39)	M3K	probably damaging	Het
Il5	C	T	11: 53,612,651 (GRCm39)	P54S	probably damaging	Het
Kif18a	T	C	2: 109,125,318 (GRCm39)	I245T	possibly damaging	Het
Kif2b	T	A	11: 91,467,140 (GRCm39)	N381I	possibly damaging	Het
Lrrc49	A	G	9: 60,500,908 (GRCm39)	F679S	probably benign	Het
Med24	A	G	11: 98,598,383 (GRCm39)	F742L	probably benign	Het
Msh3	T	C	13: 92,349,020 (GRCm39)	T1071A	probably benign	Het
Neb	T	C	2: 52,177,220 (GRCm39)	T1374A	probably damaging	Het
Or4d6	A	T	19: 12,086,091 (GRCm39)	I47N	probably damaging	Het
Or5p75-ps1	A	C	7: 108,107,851 (GRCm39)	Q196P	unknown	Het
P3h2	A	G	16: 25,805,955 (GRCm39)	I296T	probably benign	Het
Pcdhb21	A	T	18: 37,646,841 (GRCm39)		probably benign	Het
Prkab2	G	T	3: 97,566,002 (GRCm39)	G25C	probably damaging	Het
Ptprm	C	A	17: 67,251,312 (GRCm39)	A522S	possibly damaging	Het
Sema3d	A	G	5: 12,592,608 (GRCm39)	T346A	probably damaging	Het
Septin7	T	C	9: 25,163,938 (GRCm39)	S2P	unknown	Het
Sfrp5	A	G	19: 42,187,236 (GRCm39)	V278A	probably benign	Het
Taar1	T	A	10: 23,796,522 (GRCm39)	C73*	probably null	Het
Tek	T	A	4: 94,715,922 (GRCm39)	L448Q	probably benign	Het
Tmem132a	A	C	19: 10,835,833 (GRCm39)	L899R	probably damaging	Het
Txndc5	T	C	13: 38,711,845 (GRCm39)		probably benign	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Uggt1	A	G	1: 36,212,568 (GRCm39)	S925P	probably damaging	Het
Unc13d	A	T	11: 115,958,657 (GRCm39)	D786E	probably damaging	Het
Vmn1r26	T	C	6: 57,985,728 (GRCm39)	T154A	possibly damaging	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
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
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'- TGTGACTCTGCTGAATGTCATG -3'
(R):5'- GGACTGTGGCCAACAAATCC -3'

Sequencing Primer
(F):5'- GCTGAATGTCATGTCCCCC -3'
(R):5'- TGTGGCCAACAAATCCTAGTTC -3'

Posted On

2020-10-20