Mutagenetix > Incidental Mutation

Incidental Mutation 'R7324:Scara3'

568771

Institutional Source

Beutler Lab

Gene Symbol

Scara3

Ensembl Gene

ENSMUSG00000034463

Gene Name

scavenger receptor class A, member 3

Synonyms

C130058N24Rik

MMRRC Submission

045418-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R7324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66156843-66191384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66168865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 251 (I251L)

Ref Sequence

ENSEMBL: ENSMUSP00000046525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042046]

AlphaFold

Q8C850

Predicted Effect

probably benign
Transcript: ENSMUST00000042046
AA Change: I251L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000046525
Gene: ENSMUSG00000034463
AA Change: I251L

Domain	Start	End	E-Value	Type
transmembrane domain	55	77	N/A	INTRINSIC
coiled coil region	117	155	N/A	INTRINSIC
low complexity region	300	311	N/A	INTRINSIC
Pfam:Collagen	455	513	3.1e-12	PFAM
Pfam:Collagen	499	558	4.2e-11	PFAM
Pfam:Collagen	544	606	2.9e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	C	17: 84,983,667 (GRCm39)	D124G	possibly damaging	Het
Ackr3	C	G	1: 90,141,923 (GRCm39)	N127K	probably damaging	Het
AL732309.1	A	C	2: 25,136,151 (GRCm39)	M21R	possibly damaging	Het
Ankrd52	C	A	10: 128,222,032 (GRCm39)	T552K	possibly damaging	Het
Arhgap28	T	C	17: 68,202,879 (GRCm39)		probably null	Het
Arid5b	A	T	10: 67,964,752 (GRCm39)	N306K	probably benign	Het
C1qtnf3	A	C	15: 10,952,707 (GRCm39)	K56N	probably benign	Het
C2	C	T	17: 35,100,664 (GRCm39)	G52D	probably benign	Het
Casz1	C	T	4: 149,031,490 (GRCm39)	T1247M	probably damaging	Het
Cc2d2b	A	G	19: 40,797,552 (GRCm39)	D778G	unknown	Het
Cdh5	A	G	8: 104,869,425 (GRCm39)	D717G	probably damaging	Het
Clca3a2	G	A	3: 144,514,372 (GRCm39)	A445V	probably damaging	Het
Clca3b	T	A	3: 144,547,181 (GRCm39)	M319L	possibly damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Csnk1g3	A	G	18: 54,052,090 (GRCm39)	T220A	probably damaging	Het
Cyp2d10	T	G	15: 82,287,961 (GRCm39)	T381P	probably damaging	Het
Ddb2	G	A	2: 91,067,229 (GRCm39)		probably benign	Het
Ddx24	C	A	12: 103,382,518 (GRCm39)	L688F	probably damaging	Het
Dennd4c	T	C	4: 86,747,975 (GRCm39)	L1615P	unknown	Het
Dnah8	T	A	17: 31,003,099 (GRCm39)	D3599E	probably benign	Het
Dst	T	C	1: 34,045,305 (GRCm39)	S13P	possibly damaging	Het
Efcab12	T	C	6: 115,800,555 (GRCm39)	D156G	probably benign	Het
Enpp2	A	G	15: 54,741,170 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,803 (GRCm39)	V490A	probably damaging	Het
Etnppl	A	G	3: 130,423,224 (GRCm39)	N308D	probably damaging	Het
F5	TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	1: 164,021,150 (GRCm39)		probably benign	Het
Fam162b	A	T	10: 51,466,282 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,353,362 (GRCm39)	E86G	probably damaging	Het
Flii	G	A	11: 60,609,866 (GRCm39)	T615I	probably benign	Het
Fndc7	G	T	3: 108,779,537 (GRCm39)	Q336K	probably benign	Het
Gm26661	T	C	14: 7,791,911 (GRCm38)	C109R	unknown	Het
H2-DMb1	T	C	17: 34,378,436 (GRCm39)		probably null	Het
H2-T10	C	T	17: 36,430,189 (GRCm39)	G251R	probably damaging	Het
Harbi1	T	C	2: 91,551,044 (GRCm39)	I339T	probably benign	Het
Hsp90aa1	A	G	12: 110,661,659 (GRCm39)	M119T	unknown	Het
Ighe	T	A	12: 113,235,954 (GRCm39)	Y124F		Het
Ighv7-1	T	C	12: 113,860,149 (GRCm39)	Y81C	probably damaging	Het
Ilkap	A	T	1: 91,313,115 (GRCm39)		probably null	Het
Inpp5a	A	G	7: 139,105,586 (GRCm39)	D179G	probably damaging	Het
Itgad	A	T	7: 127,788,979 (GRCm39)	D510V	probably damaging	Het
Kcnn2	A	T	18: 45,693,138 (GRCm39)	H238L	probably benign	Het
Kctd17	T	A	15: 78,319,842 (GRCm39)	C189S	probably damaging	Het
Larp4b	C	A	13: 9,208,616 (GRCm39)	A423E	probably benign	Het
Llgl2	A	G	11: 115,741,556 (GRCm39)	E562G	possibly damaging	Het
Macf1	T	C	4: 123,268,218 (GRCm39)	T6734A	probably benign	Het
Maz	G	A	7: 126,623,765 (GRCm39)	T377M	probably damaging	Het
Mmrn1	G	T	6: 60,921,917 (GRCm39)	G125*	probably null	Het
Mvp	A	G	7: 126,592,781 (GRCm39)	S377P	probably benign	Het
Nin	C	T	12: 70,090,508 (GRCm39)	R969Q		Het
Nktr	C	T	9: 121,556,427 (GRCm39)	T35I	probably damaging	Het
Nktr	T	A	9: 121,577,357 (GRCm39)	M475K	possibly damaging	Het
Nod2	T	A	8: 89,379,694 (GRCm39)	V65D	probably damaging	Het
Opa1	A	T	16: 29,405,799 (GRCm39)	E121D	probably benign	Het
Or10w3	C	T	19: 13,704,270 (GRCm39)	A215V	probably benign	Het
Or1r1	A	G	11: 73,874,669 (GRCm39)	V255A	probably benign	Het
Or2n1c	T	C	17: 38,519,607 (GRCm39)	V157A	probably benign	Het
Or4a76	A	T	2: 89,460,447 (GRCm39)	I265N	possibly damaging	Het
Or5ac21	T	C	16: 59,123,611 (GRCm39)	F32L	probably benign	Het
Or5b123	A	G	19: 13,596,942 (GRCm39)	I96V	probably benign	Het
Or6c88	T	A	10: 129,406,718 (GRCm39)	S65T	probably damaging	Het
Or7e174	A	T	9: 20,012,726 (GRCm39)	I224F	possibly damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Plekhh3	T	A	11: 101,061,600 (GRCm39)	D38V	possibly damaging	Het
Prtg	C	T	9: 72,798,122 (GRCm39)	A696V	probably damaging	Het
Ptpn14	T	G	1: 189,595,621 (GRCm39)	V748G	possibly damaging	Het
Reg2	A	T	6: 78,383,137 (GRCm39)	D28V	probably benign	Het
Rhpn1	A	T	15: 75,576,246 (GRCm39)	I2F	possibly damaging	Het
Rundc3a	A	G	11: 102,290,799 (GRCm39)	E294G	possibly damaging	Het
Slc23a2	G	A	2: 131,931,043 (GRCm39)	T152I	probably damaging	Het
Slc39a2	T	G	14: 52,131,650 (GRCm39)	S74A	possibly damaging	Het
Tmprss15	T	C	16: 78,758,907 (GRCm39)	Y937C	probably damaging	Het
Tpp2	T	C	1: 44,017,938 (GRCm39)	L779S	probably damaging	Het
Tssk2	T	C	16: 17,717,227 (GRCm39)	V210A	possibly damaging	Het
Ttn	T	A	2: 76,725,937 (GRCm39)	T6100S	unknown	Het
Tufm	G	A	7: 126,088,759 (GRCm39)	E317K	possibly damaging	Het
Vinac1	T	C	2: 128,879,772 (GRCm39)	D718G	unknown	Het
Wdfy4	A	G	14: 32,769,271 (GRCm39)	S2219P		Het
Wtap	T	C	17: 13,199,833 (GRCm39)	N50S	possibly damaging	Het

Other mutations in Scara3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Scara3	APN	14	66,170,570 (GRCm39)	missense	probably benign	0.01
IGL00646:Scara3	APN	14	66,158,605 (GRCm39)	nonsense	probably null
IGL00718:Scara3	APN	14	66,168,876 (GRCm39)	missense	possibly damaging	0.67
IGL01948:Scara3	APN	14	66,168,261 (GRCm39)	missense	probably damaging	0.99
IGL01979:Scara3	APN	14	66,168,412 (GRCm39)	missense	probably benign	0.01
IGL02399:Scara3	APN	14	66,170,559 (GRCm39)	nonsense	probably null
IGL02939:Scara3	APN	14	66,169,105 (GRCm39)	missense	probably benign	0.00
IGL02945:Scara3	APN	14	66,168,660 (GRCm39)	missense	probably damaging	1.00
IGL03075:Scara3	APN	14	66,168,603 (GRCm39)	missense	probably damaging	1.00
IGL03100:Scara3	APN	14	66,168,722 (GRCm39)	missense	probably damaging	1.00
IGL03156:Scara3	APN	14	66,168,603 (GRCm39)	missense	probably damaging	1.00
IGL03179:Scara3	APN	14	66,168,603 (GRCm39)	missense	probably damaging	1.00
condor	UTSW	14	66,168,651 (GRCm39)	missense	probably damaging	1.00
PIT4362001:Scara3	UTSW	14	66,173,851 (GRCm39)	missense	probably benign
R0062:Scara3	UTSW	14	66,168,417 (GRCm39)	missense	probably damaging	1.00
R0062:Scara3	UTSW	14	66,168,417 (GRCm39)	missense	probably damaging	1.00
R0124:Scara3	UTSW	14	66,168,670 (GRCm39)	missense	probably benign	0.01
R0349:Scara3	UTSW	14	66,169,230 (GRCm39)	missense	probably damaging	0.98
R1584:Scara3	UTSW	14	66,158,553 (GRCm39)	missense	probably damaging	1.00
R4785:Scara3	UTSW	14	66,190,950 (GRCm39)	start codon destroyed	probably null	0.06
R5336:Scara3	UTSW	14	66,168,487 (GRCm39)	missense	probably damaging	1.00
R6307:Scara3	UTSW	14	66,175,710 (GRCm39)	missense	probably benign	0.24
R6420:Scara3	UTSW	14	66,175,701 (GRCm39)	missense	possibly damaging	0.92
R6610:Scara3	UTSW	14	66,168,670 (GRCm39)	missense	probably damaging	0.97
R7159:Scara3	UTSW	14	66,158,229 (GRCm39)	missense	probably damaging	0.98
R7208:Scara3	UTSW	14	66,168,715 (GRCm39)	missense	possibly damaging	0.62
R7246:Scara3	UTSW	14	66,169,093 (GRCm39)	missense	probably damaging	0.97
R7315:Scara3	UTSW	14	66,168,889 (GRCm39)	missense	probably damaging	1.00
R7497:Scara3	UTSW	14	66,168,651 (GRCm39)	missense	probably damaging	1.00
R7504:Scara3	UTSW	14	66,168,780 (GRCm39)	missense	possibly damaging	0.82
R7554:Scara3	UTSW	14	66,158,299 (GRCm39)	missense	possibly damaging	0.69
R8143:Scara3	UTSW	14	66,169,269 (GRCm39)	missense	probably damaging	0.96
R9043:Scara3	UTSW	14	66,169,070 (GRCm39)	missense	probably damaging	1.00
R9226:Scara3	UTSW	14	66,169,233 (GRCm39)	missense	possibly damaging	0.69
R9363:Scara3	UTSW	14	66,168,720 (GRCm39)	missense	probably benign	0.01
R9730:Scara3	UTSW	14	66,168,261 (GRCm39)	missense	probably damaging	0.99
YA93:Scara3	UTSW	14	66,168,398 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTAGCTGTAGGCCCATGAC -3'
(R):5'- TCCATTCACCAGGTCAATCAG -3'

Sequencing Primer
(F):5'- TGACCTGCAGAACCAAGTCATG -3'
(R):5'- AGGTCAATCAGTCCCTGGG -3'

Posted On

2019-09-13