Mutagenetix > Incidental Mutations

Incidental Mutation 'R0257:C3ar1'

34780

Institutional Source

Beutler Lab

Gene Symbol

C3ar1

Ensembl Gene

ENSMUSG00000040552

Gene Name

complement component 3a receptor 1

Synonyms

C3aR, anaphylatoxin C3a receptor

MMRRC Submission

038488-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122847138-122856161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122850787 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 157 (V157A)

Ref Sequence

ENSEMBL: ENSMUSP00000048092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042081]

Predicted Effect

probably benign
Transcript: ENSMUST00000042081
AA Change: V157A

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048092
Gene: ENSMUSG00000040552
AA Change: V157A

Domain	Start	End	E-Value	Type
Pfam:7tm_1	40	193	8.1e-25	PFAM
Pfam:7TM_GPCR_Srsx	281	443	7.8e-8	PFAM
Pfam:7tm_1	313	428	6.5e-17	PFAM

Meta Mutation Damage Score

0.1573

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C3a is an anaphylatoxin released during activation of the complement system. The protein encoded by this gene is an orphan G protein-coupled receptor for C3a. Binding of C3a by the encoded receptor activates chemotaxis, granule enzyme release, superoxide anion production, and bacterial opsonization. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous targeted mutants display protective effects against the changes in lung physiology after allergen challenge, increased lethality to endotoxin shock, and elevated IL1B following LPS challenge, supporting the role of C3arin proinflammatory responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in C3ar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01818:C3ar1	APN	6	122850419	missense	probably benign	0.00
IGL01936:C3ar1	APN	6	122851235	missense	probably benign	0.04
IGL01998:C3ar1	APN	6	122850940	missense	probably damaging	1.00
IGL02351:C3ar1	APN	6	122849975	missense	probably damaging	1.00
IGL02358:C3ar1	APN	6	122849975	missense	probably damaging	1.00
IGL02399:C3ar1	APN	6	122849879	missense	probably benign	0.00
PIT4618001:C3ar1	UTSW	6	122850787	missense	probably benign	0.25
R0014:C3ar1	UTSW	6	122850851	missense	probably damaging	1.00
R0195:C3ar1	UTSW	6	122851155	missense	possibly damaging	0.95
R0344:C3ar1	UTSW	6	122850772	missense	probably benign	0.45
R4345:C3ar1	UTSW	6	122850700	missense	probably damaging	1.00
R4614:C3ar1	UTSW	6	122850721	missense	probably benign	0.00
R4643:C3ar1	UTSW	6	122850974	missense	probably damaging	1.00
R4840:C3ar1	UTSW	6	122850764	missense	probably benign
R5235:C3ar1	UTSW	6	122850922	missense	probably damaging	1.00
R5303:C3ar1	UTSW	6	122849835	missense	probably damaging	1.00
R5610:C3ar1	UTSW	6	122850578	missense	probably benign	0.01
R5762:C3ar1	UTSW	6	122850362	missense	probably benign	0.07
R5873:C3ar1	UTSW	6	122850422	missense	probably benign	0.24
R5877:C3ar1	UTSW	6	122850622	missense	probably benign	0.17
R6327:C3ar1	UTSW	6	122850146	missense	probably damaging	1.00
R6440:C3ar1	UTSW	6	122850508	missense	probably damaging	0.99
R6505:C3ar1	UTSW	6	122850640	missense	probably benign	0.03
R6636:C3ar1	UTSW	6	122851054	missense	probably damaging	1.00
R6755:C3ar1	UTSW	6	122849858	missense	probably benign	0.00
R6953:C3ar1	UTSW	6	122850632	missense	possibly damaging	0.49
R8049:C3ar1	UTSW	6	122850100	missense	not run
X0065:C3ar1	UTSW	6	122850765	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAGGAAGGAGCTGACCTGTCATTC -3'
(R):5'- GCTCACCTGATTCTCCAAGGACAC -3'

Sequencing Primer
(F):5'- GACCTGTCATTCATATGTCCAGTTAG -3'
(R):5'- ATGGCTTGTTCCTGTGCAAAC -3'

Posted On

2013-05-09