Mutagenetix > Incidental Mutation

Incidental Mutation 'R1703:Scarf2'

189926

Institutional Source

Beutler Lab

Gene Symbol

Scarf2

Ensembl Gene

ENSMUSG00000012017

Gene Name

scavenger receptor class F, member 2

Synonyms

Srec2, SREC-II

MMRRC Submission

039736-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1703 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

17615146-17626157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17620713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 127 (E127G)

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: E127G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000012161
Gene: ENSMUSG00000012017
AA Change: E127G

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: E127G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Meta Mutation Damage Score

0.2546

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

99% (86/87)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,945,431 (GRCm39)	Y401*	probably null	Het
4932415M13Rik	C	A	17: 54,032,065 (GRCm39)		noncoding transcript	Het
Abtb3	A	G	10: 85,223,248 (GRCm39)	D19G	unknown	Het
Acoxl	T	A	2: 127,820,692 (GRCm39)	S81R	probably damaging	Het
Adamtsl4	A	G	3: 95,584,924 (GRCm39)	C915R	probably damaging	Het
Adgra3	C	T	5: 50,164,117 (GRCm39)	M287I	probably benign	Het
Afg1l	T	G	10: 42,276,395 (GRCm39)	D250A	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Amfr	T	C	8: 94,700,871 (GRCm39)	T530A	probably benign	Het
Ank2	C	T	3: 126,723,415 (GRCm39)	V971M	probably damaging	Het
App	A	G	16: 84,762,656 (GRCm39)	S656P	probably damaging	Het
Arid5a	T	A	1: 36,358,656 (GRCm39)		probably null	Het
Asic5	T	A	3: 81,907,029 (GRCm39)	V60D	possibly damaging	Het
Atm	G	T	9: 53,412,000 (GRCm39)	H1019N	probably benign	Het
Cep250	A	G	2: 155,807,466 (GRCm39)	K277R	probably benign	Het
Chrna7	C	T	7: 62,749,255 (GRCm39)	R409H	probably damaging	Het
Chrng	A	T	1: 87,138,628 (GRCm39)	N419I	possibly damaging	Het
Ciao1	T	C	2: 127,087,739 (GRCm39)	S199G	probably benign	Het
Clstn2	A	T	9: 97,340,290 (GRCm39)	M694K	possibly damaging	Het
Cpeb2	A	G	5: 43,391,181 (GRCm39)		probably benign	Het
Cyp2c69	T	A	19: 39,864,810 (GRCm39)	I223F	probably benign	Het
Dennd1b	A	T	1: 139,097,492 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,917,575 (GRCm39)	L4162Q	probably damaging	Het
Dnm1	T	C	2: 32,213,463 (GRCm39)	M506V	probably benign	Het
Ecsit	A	G	9: 21,986,107 (GRCm39)	V173A	probably damaging	Het
Fam13b	T	C	18: 34,584,492 (GRCm39)		probably null	Het
Fgl2	T	A	5: 21,577,730 (GRCm39)	W6R	possibly damaging	Het
Galnt9	G	A	5: 110,767,038 (GRCm39)	R503H	probably damaging	Het
Gramd1a	C	T	7: 30,838,959 (GRCm39)	V247M	possibly damaging	Het
Grip2	A	T	6: 91,754,379 (GRCm39)	I632N	probably damaging	Het
Hspg2	T	C	4: 137,286,462 (GRCm39)	V3627A	probably damaging	Het
Ipo8	T	C	6: 148,691,390 (GRCm39)	Y660C	probably benign	Het
Isg15	T	C	4: 156,284,265 (GRCm39)	R88G	possibly damaging	Het
Itgb5	T	A	16: 33,730,870 (GRCm39)	D388E	probably benign	Het
Jhy	T	C	9: 40,856,133 (GRCm39)	Y118C	probably damaging	Het
Kalrn	G	A	16: 34,025,696 (GRCm39)	T931M	probably damaging	Het
Kif21a	A	G	15: 90,833,250 (GRCm39)		probably null	Het
Lama2	A	T	10: 27,142,667 (GRCm39)	Y604N	probably damaging	Het
Lrp3	T	G	7: 34,912,586 (GRCm39)	S34R	possibly damaging	Het
Lrrc37	C	T	11: 103,431,700 (GRCm39)	V1372I	probably benign	Het
Lyn	T	C	4: 3,738,867 (GRCm39)		probably null	Het
Mroh8	C	T	2: 157,113,896 (GRCm39)	V132I	probably benign	Het
Mthfd1l	T	C	10: 4,098,093 (GRCm39)	F977L	probably damaging	Het
Nol8	C	T	13: 49,820,933 (GRCm39)	T912M	possibly damaging	Het
Nrxn1	A	T	17: 90,515,845 (GRCm39)	N169K	probably damaging	Het
Oplah	A	G	15: 76,180,867 (GRCm39)	Y1279H	probably benign	Het
Or10ag56	T	C	2: 87,139,754 (GRCm39)	V207A	probably benign	Het
Or4c101	T	A	2: 88,390,599 (GRCm39)	M262K	possibly damaging	Het
Pcsk5	T	C	19: 17,729,458 (GRCm39)	N129S	probably benign	Het
Pcyt2	G	T	11: 120,503,894 (GRCm39)	P185T	probably benign	Het
Pdlim2	A	G	14: 70,411,784 (GRCm39)		probably null	Het
Pgs1	T	C	11: 117,905,554 (GRCm39)		probably benign	Het
Qprt	A	G	7: 126,707,343 (GRCm39)	V251A	probably benign	Het
Rasal2	A	C	1: 156,985,170 (GRCm39)	L834R	probably damaging	Het
Reg1	T	C	6: 78,405,432 (GRCm39)	C161R	probably damaging	Het
Rp1	T	A	1: 4,415,392 (GRCm39)	I1907F	probably damaging	Het
S1pr5	T	C	9: 21,155,346 (GRCm39)	D360G	possibly damaging	Het
Sart3	C	A	5: 113,890,280 (GRCm39)	V482F	probably benign	Het
Serinc5	T	C	13: 92,825,305 (GRCm39)	S245P	probably damaging	Het
Serpinc1	G	T	1: 160,821,087 (GRCm39)	R57L	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Sgca	A	T	11: 94,860,217 (GRCm39)	L307M	probably damaging	Het
Slc7a9	C	A	7: 35,154,000 (GRCm39)	Q208K	probably benign	Het
Slfn10-ps	C	T	11: 82,920,869 (GRCm39)		noncoding transcript	Het
Spam1	A	T	6: 24,796,256 (GRCm39)	D69V	probably damaging	Het
Tanc1	A	G	2: 59,673,365 (GRCm39)	E1490G	probably benign	Het
Tbc1d22a	G	T	15: 86,123,416 (GRCm39)	D150Y	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tlx1	A	G	19: 45,144,443 (GRCm39)	D55G	possibly damaging	Het
Tram2	G	T	1: 21,074,458 (GRCm39)	N241K	probably damaging	Het
Ttc23l	T	C	15: 10,523,744 (GRCm39)	Y325C	probably damaging	Het
Ubac2	T	A	14: 122,142,582 (GRCm39)	S27T	probably benign	Het
Utrn	G	A	10: 12,603,473 (GRCm39)		probably benign	Het
Vnn3	A	T	10: 23,741,828 (GRCm39)	M378L	probably benign	Het
Vps18	T	A	2: 119,119,538 (GRCm39)	D6E	probably benign	Het
Xkr5	T	A	8: 18,989,134 (GRCm39)	I253F	probably benign	Het
Yeats4	A	T	10: 117,051,628 (GRCm39)	C210S	probably benign	Het
Zdhhc20	A	G	14: 58,076,545 (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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGCGACACAAGTGAGCATGG -3'
(R):5'- ACTGGCAATAGCGATCACAGCG -3'

Sequencing Primer
(F):5'- TGGACAGTTTGGCGGGAAG -3'
(R):5'- CAGGCGCACTGGTTGTTAC -3'

Posted On

2014-05-14