Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122824099-122833116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122827746 bp (GRCm39)

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]

AlphaFold

O09047

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
Aatf	T	A	11: 84,401,107 (GRCm39)	E171D	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adgre5	T	A	8: 84,458,624 (GRCm39)	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,717,790 (GRCm39)	M256L	probably benign	Het
Alk	A	T	17: 72,910,490 (GRCm39)	L72Q	probably damaging	Het
Ano2	C	A	6: 125,857,676 (GRCm39)	A505E	probably benign	Het
Bcas3	A	G	11: 85,712,865 (GRCm39)	K908E	probably benign	Het
Car2	C	G	3: 14,965,037 (GRCm39)	H224D	probably benign	Het
Cfh	T	C	1: 140,071,773 (GRCm39)	D287G	probably benign	Het
Disp3	G	T	4: 148,335,211 (GRCm39)	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,661,671 (GRCm39)		probably benign	Het
Dmbt1	A	G	7: 130,708,123 (GRCm39)	E1281G	probably damaging	Het
Dmxl1	T	A	18: 50,088,870 (GRCm39)		probably benign	Het
Dtx3	T	C	10: 127,028,761 (GRCm39)	D159G	probably benign	Het
Ets2	T	A	16: 95,513,245 (GRCm39)	C140*	probably null	Het
Fbf1	T	C	11: 116,045,917 (GRCm39)	I226V	probably benign	Het
Fgd6	T	A	10: 93,879,777 (GRCm39)	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898 (GRCm39)	T179A	probably benign	Het
Galnt10	T	C	11: 57,671,904 (GRCm39)	M398T	probably damaging	Het
Grk5	G	T	19: 61,065,068 (GRCm39)		probably benign	Het
Gse1	A	G	8: 121,299,073 (GRCm39)		probably benign	Het
Hmcn2	T	C	2: 31,259,176 (GRCm39)		probably benign	Het
Iqgap2	A	G	13: 95,861,052 (GRCm39)		probably null	Het
Lama4	T	C	10: 38,970,880 (GRCm39)		probably benign	Het
Luzp2	A	G	7: 54,899,194 (GRCm39)	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534 (GRCm39)	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,705,649 (GRCm39)		probably benign	Het
Msh5	G	C	17: 35,251,840 (GRCm39)	R407G	probably damaging	Het
Myo1c	A	T	11: 75,556,342 (GRCm39)		probably null	Het
Nek5	T	C	8: 22,613,688 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,540,728 (GRCm39)	I894V	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Pde4a	C	T	9: 21,103,717 (GRCm39)	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,150,930 (GRCm39)	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,660,080 (GRCm39)	S139N	probably benign	Het
Prob1	T	C	18: 35,786,092 (GRCm39)	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,495,382 (GRCm39)	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,589,842 (GRCm39)	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,441,664 (GRCm39)	M199L	probably benign	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,682,761 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,192,819 (GRCm39)	S369C	possibly damaging	Het
St18	T	A	1: 6,890,186 (GRCm39)	F539L	probably benign	Het
Stam2	C	T	2: 52,584,794 (GRCm39)	G500D	possibly damaging	Het
Stx16	G	A	2: 173,938,754 (GRCm39)	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610 (GRCm39)	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,765,904 (GRCm39)	S512N	probably benign	Het
Tiam2	T	C	17: 3,501,088 (GRCm39)	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343 (GRCm39)	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,778,556 (GRCm39)	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,741,045 (GRCm39)	S1264L	probably benign	Het
Ttn	T	A	2: 76,640,775 (GRCm39)	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,249,889 (GRCm39)	T794I	probably damaging	Het
Vmn2r52	T	A	7: 9,904,982 (GRCm39)	R286*	probably null	Het
Vps53	A	T	11: 76,068,211 (GRCm39)		probably benign	Het
Wdr18	A	G	10: 79,796,953 (GRCm39)		probably benign	Het
Wdr31	A	G	4: 62,378,755 (GRCm39)		probably null	Het
Zfp458	T	A	13: 67,407,706 (GRCm39)	K47*	probably null	Het
Zfp983	A	G	17: 21,880,356 (GRCm39)	T95A	probably benign	Het

Other mutations in C3ar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01818:C3ar1	APN	6	122,827,378 (GRCm39)	missense	probably benign	0.00
IGL01936:C3ar1	APN	6	122,828,194 (GRCm39)	missense	probably benign	0.04
IGL01998:C3ar1	APN	6	122,827,899 (GRCm39)	missense	probably damaging	1.00
IGL02351:C3ar1	APN	6	122,826,934 (GRCm39)	missense	probably damaging	1.00
IGL02358:C3ar1	APN	6	122,826,934 (GRCm39)	missense	probably damaging	1.00
IGL02399:C3ar1	APN	6	122,826,838 (GRCm39)	missense	probably benign	0.00
PIT4618001:C3ar1	UTSW	6	122,827,746 (GRCm39)	missense	probably benign	0.25
R0014:C3ar1	UTSW	6	122,827,810 (GRCm39)	missense	probably damaging	1.00
R0195:C3ar1	UTSW	6	122,828,114 (GRCm39)	missense	possibly damaging	0.95
R0344:C3ar1	UTSW	6	122,827,731 (GRCm39)	missense	probably benign	0.45
R4345:C3ar1	UTSW	6	122,827,659 (GRCm39)	missense	probably damaging	1.00
R4614:C3ar1	UTSW	6	122,827,680 (GRCm39)	missense	probably benign	0.00
R4643:C3ar1	UTSW	6	122,827,933 (GRCm39)	missense	probably damaging	1.00
R4840:C3ar1	UTSW	6	122,827,723 (GRCm39)	missense	probably benign
R5235:C3ar1	UTSW	6	122,827,881 (GRCm39)	missense	probably damaging	1.00
R5303:C3ar1	UTSW	6	122,826,794 (GRCm39)	missense	probably damaging	1.00
R5610:C3ar1	UTSW	6	122,827,537 (GRCm39)	missense	probably benign	0.01
R5762:C3ar1	UTSW	6	122,827,321 (GRCm39)	missense	probably benign	0.07
R5873:C3ar1	UTSW	6	122,827,381 (GRCm39)	missense	probably benign	0.24
R5877:C3ar1	UTSW	6	122,827,581 (GRCm39)	missense	probably benign	0.17
R6327:C3ar1	UTSW	6	122,827,105 (GRCm39)	missense	probably damaging	1.00
R6440:C3ar1	UTSW	6	122,827,467 (GRCm39)	missense	probably damaging	0.99
R6505:C3ar1	UTSW	6	122,827,599 (GRCm39)	missense	probably benign	0.03
R6636:C3ar1	UTSW	6	122,828,013 (GRCm39)	missense	probably damaging	1.00
R6755:C3ar1	UTSW	6	122,826,817 (GRCm39)	missense	probably benign	0.00
R6953:C3ar1	UTSW	6	122,827,591 (GRCm39)	missense	possibly damaging	0.49
R7985:C3ar1	UTSW	6	122,826,964 (GRCm39)	missense	probably damaging	1.00
R8049:C3ar1	UTSW	6	122,827,059 (GRCm39)	missense	probably damaging	0.97
R8936:C3ar1	UTSW	6	122,828,044 (GRCm39)	missense	probably damaging	0.97
R9337:C3ar1	UTSW	6	122,827,278 (GRCm39)	missense	probably benign	0.00
X0065:C3ar1	UTSW	6	122,827,724 (GRCm39)	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