Mutagenetix > Incidental Mutation

Incidental Mutation 'R7159:Scara3'

557530

Institutional Source

Beutler Lab

Gene Symbol

Scara3

Ensembl Gene

ENSMUSG00000034463

Gene Name

scavenger receptor class A, member 3

Synonyms

C130058N24Rik

MMRRC Submission

045259-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R7159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66156843-66191384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66158229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 593 (L593P)

Ref Sequence

ENSEMBL: ENSMUSP00000046525 (fasta)

Gene Model

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

AlphaFold

Q8C850

Predicted Effect

probably damaging
Transcript: ENSMUST00000042046
AA Change: L593P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046525
Gene: ENSMUSG00000034463
AA Change: L593P

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,380,327 (GRCm39)	V500E	possibly damaging	Het
Ankrd34b	T	C	13: 92,575,970 (GRCm39)	S401P	probably benign	Het
Arfgef2	T	A	2: 166,668,848 (GRCm39)	D41E	probably benign	Het
Arid1a	T	C	4: 133,480,879 (GRCm39)	N15S	unknown	Het
Arsa	A	T	15: 89,358,921 (GRCm39)		probably null	Het
B3gnt9	C	A	8: 105,981,064 (GRCm39)	C108F	probably damaging	Het
Bbc3	C	A	7: 16,047,733 (GRCm39)	Y152*	probably null	Het
Btbd1	T	C	7: 81,467,957 (GRCm39)	M188V	probably benign	Het
Caln1	C	T	5: 130,851,838 (GRCm39)	T209I	probably benign	Het
Casp12	C	T	9: 5,353,763 (GRCm39)	P266S	possibly damaging	Het
Ccm2l	A	T	2: 152,912,787 (GRCm39)	I109F	probably damaging	Het
Chst15	A	C	7: 131,871,987 (GRCm39)	L98R	probably damaging	Het
Ctsq	A	G	13: 61,186,737 (GRCm39)	M89T	probably benign	Het
Ddx39b	T	C	17: 35,465,986 (GRCm39)	V169A	probably benign	Het
Fhad1	T	C	4: 141,678,927 (GRCm39)	H583R	probably benign	Het
Fndc1	T	A	17: 8,019,763 (GRCm39)	I139F	probably damaging	Het
Gm7145	C	G	1: 117,913,561 (GRCm39)	H148D	probably benign	Het
Gpr62	C	A	9: 106,342,641 (GRCm39)	A96S	probably damaging	Het
Gsap	T	A	5: 21,475,618 (GRCm39)		probably null	Het
Hdhd5	T	A	6: 120,500,432 (GRCm39)	T89S	probably damaging	Het
Kcna5	T	A	6: 126,510,592 (GRCm39)	Y512F	probably damaging	Het
Krt84	C	A	15: 101,438,044 (GRCm39)	E304*	probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lrp6	C	A	6: 134,484,514 (GRCm39)	V370L	probably benign	Het
Lrrc3c	G	A	11: 98,490,144 (GRCm39)	G167D	probably damaging	Het
Man2b1	C	T	8: 85,813,909 (GRCm39)	T291M	probably benign	Het
Mapkbp1	A	G	2: 119,855,613 (GRCm39)	E1438G	possibly damaging	Het
Med12l	A	G	3: 59,183,438 (GRCm39)	T1947A	probably benign	Het
Myh15	A	T	16: 48,881,937 (GRCm39)	T60S	probably damaging	Het
Myo5a	A	T	9: 75,078,845 (GRCm39)	I868F	probably benign	Het
Myom3	A	T	4: 135,536,162 (GRCm39)	I1278F	probably damaging	Het
Nbn	G	T	4: 15,983,677 (GRCm39)		probably null	Het
Ncam2	G	T	16: 81,287,262 (GRCm39)	S392I	probably damaging	Het
Nrg3	A	C	14: 38,092,692 (GRCm39)	L647*	probably null	Het
Or10j7	A	T	1: 173,011,890 (GRCm39)	L37Q	possibly damaging	Het
Or2t35	T	C	14: 14,407,251 (GRCm38)	S8P	possibly damaging	Het
Or2y1g	A	T	11: 49,171,185 (GRCm39)	D70V	probably damaging	Het
Or8j3c	T	A	2: 86,253,956 (GRCm39)		probably null	Het
Pcdhb9	A	G	18: 37,534,545 (GRCm39)	N180D	possibly damaging	Het
Pcdhga4	A	G	18: 37,819,972 (GRCm39)	N507S	probably damaging	Het
Pdilt	A	G	7: 119,087,174 (GRCm39)	V492A	probably benign	Het
Phf12	A	G	11: 77,914,366 (GRCm39)	T603A	possibly damaging	Het
Phox2b	T	A	5: 67,254,928 (GRCm39)	I174F	probably benign	Het
Polq	A	T	16: 36,883,215 (GRCm39)	Q1793L	possibly damaging	Het
Prmt9	T	C	8: 78,282,393 (GRCm39)	F97L	probably benign	Het
Prpsap1	T	C	11: 116,384,870 (GRCm39)	E13G	probably benign	Het
Ptpru	A	G	4: 131,546,851 (GRCm39)	L280P	probably damaging	Het
Pygl	A	T	12: 70,244,180 (GRCm39)	M587K	probably benign	Het
Rc3h2	T	C	2: 37,299,659 (GRCm39)	S124G	probably benign	Het
Rdh5	A	G	10: 128,754,184 (GRCm39)	I83T	possibly damaging	Het
Rigi	A	G	4: 40,213,804 (GRCm39)	V618A	probably benign	Het
Ryr2	T	G	13: 11,825,794 (GRCm39)	R561S	probably damaging	Het
Scfd2	T	C	5: 74,692,004 (GRCm39)	I93V	probably benign	Het
Sema4f	C	A	6: 82,894,864 (GRCm39)	V444L	possibly damaging	Het
Slco1a7	T	A	6: 141,719,504 (GRCm39)	M1L	probably damaging	Het
Spata33	T	C	8: 123,941,134 (GRCm39)	L61P	unknown	Het
Stard10	A	T	7: 100,992,343 (GRCm39)		probably null	Het
Stub1	T	C	17: 26,051,038 (GRCm39)	I115V	probably benign	Het
Tlcd3b	T	C	7: 126,426,667 (GRCm39)	F80S	probably damaging	Het
Tmem247	C	T	17: 87,225,710 (GRCm39)	T50I	probably benign	Het
Tnrc6b	A	G	15: 80,771,223 (GRCm39)	M1103V	possibly damaging	Het
Trim61	T	C	8: 65,466,526 (GRCm39)	Y245C	probably benign	Het
Trip13	T	C	13: 74,068,130 (GRCm39)	I284V	probably benign	Het
Trpm4	T	C	7: 44,976,692 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,740,092 (GRCm39)	L3528F	unknown	Het
Ttn	A	G	2: 76,560,918 (GRCm39)	L29161S	probably damaging	Het
Ube2v2	G	A	16: 15,398,948 (GRCm39)	T47I	probably benign	Het
Vwa5b1	C	T	4: 138,302,733 (GRCm39)	A921T	possibly damaging	Het
Xylt1	T	A	7: 117,236,829 (GRCm39)	F526Y	probably 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
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
R7324:Scara3	UTSW	14	66,168,865 (GRCm39)	missense	probably benign	0.03
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'- ACAGTCATTATTGGGAAGCTTAAGGC -3'
(R):5'- TCAAAGGGCAGCTTTGGCAC -3'

Sequencing Primer
(F):5'- TAAGGCTATGCAGTCAGCTC -3'
(R):5'- CTTTGGCACTGGAGGACCAAG -3'

Posted On

2019-06-26