Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01998:C3ar1'

182952

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C3ar1

Ensembl Gene

ENSMUSG00000040552

Gene Name

complement component 3a receptor 1

Synonyms

C3aR, anaphylatoxin C3a receptor

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01998

Quality Score

Status

Chromosome

Chromosomal Location

122824099-122833116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122827899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 106 (M106K)

Ref Sequence

ENSEMBL: ENSMUSP00000048092 (fasta)

Gene Model

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

AlphaFold

O09047

Predicted Effect

probably damaging
Transcript: ENSMUST00000042081
AA Change: M106K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048092
Gene: ENSMUSG00000040552
AA Change: M106K

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

Coding Region Coverage

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpc3	T	C	5: 122,541,470 (GRCm39)	C78R	probably damaging	Het
Atp6v0b	A	G	4: 117,743,263 (GRCm39)		probably null	Het
B3gnt8	A	G	7: 25,328,203 (GRCm39)	Y211C	probably damaging	Het
Birc6	T	C	17: 74,886,880 (GRCm39)	I736T	probably benign	Het
Bltp1	T	C	3: 37,011,165 (GRCm39)	S1788P	possibly damaging	Het
Bpifb9a	T	C	2: 154,110,120 (GRCm39)		probably null	Het
C9orf72	A	T	4: 35,194,179 (GRCm39)	D205E	probably benign	Het
Cab39l	T	A	14: 59,734,344 (GRCm39)	L21Q	probably damaging	Het
Casp1	A	T	9: 5,303,043 (GRCm39)	I166F	probably damaging	Het
Cd180	A	G	13: 102,841,722 (GRCm39)	E256G	probably damaging	Het
Clca4a	T	C	3: 144,663,887 (GRCm39)	T519A	probably damaging	Het
Clstn3	A	T	6: 124,435,622 (GRCm39)	L233Q	probably damaging	Het
Crlf3	G	A	11: 79,948,845 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,102,495 (GRCm39)		probably benign	Het
Drc7	T	A	8: 95,785,821 (GRCm39)	C226S	probably damaging	Het
Epha5	T	A	5: 84,232,593 (GRCm39)	D807V	probably damaging	Het
Fat2	A	G	11: 55,187,021 (GRCm39)	L1275P	probably benign	Het
Fv1	T	C	4: 147,953,784 (GRCm39)	C117R	possibly damaging	Het
Ighg2b	C	A	12: 113,270,709 (GRCm39)	M140I	unknown	Het
Klra5	A	T	6: 129,883,676 (GRCm39)	Y60*	probably null	Het
Lmtk2	C	T	5: 144,112,883 (GRCm39)	T1201I	probably damaging	Het
Ncapd2	A	T	6: 125,150,078 (GRCm39)	S917T	probably benign	Het
Ncapd2	A	T	6: 125,146,896 (GRCm39)	L1230H	probably damaging	Het
Nfx1	T	A	4: 41,004,353 (GRCm39)	I708N	probably damaging	Het
Notch2	A	T	3: 98,050,422 (GRCm39)	D1899V	probably damaging	Het
Npepl1	T	A	2: 173,957,993 (GRCm39)		probably benign	Het
Nps	T	A	7: 134,870,481 (GRCm39)		probably benign	Het
Nrg1	T	C	8: 32,408,162 (GRCm39)	S24G	probably damaging	Het
Or1j20	A	G	2: 36,759,658 (GRCm39)	N27D	probably benign	Het
Or2ag16	G	A	7: 106,351,758 (GRCm39)	T279M	possibly damaging	Het
Or2t48	A	T	11: 58,420,403 (GRCm39)	Y136*	probably null	Het
Or4k2	C	A	14: 50,424,105 (GRCm39)	V190L	probably benign	Het
Pigx	G	T	16: 31,903,428 (GRCm39)	T211K	probably benign	Het
Pink1	A	G	4: 138,048,053 (GRCm39)	I223T	probably damaging	Het
Plat	G	A	8: 23,257,163 (GRCm39)	A15T	probably benign	Het
Ptges2	G	A	2: 32,291,542 (GRCm39)	A310T	possibly damaging	Het
Rsl1d1	A	G	16: 11,012,509 (GRCm39)	S306P	possibly damaging	Het
Rxfp1	T	C	3: 79,567,403 (GRCm39)	K316E	probably benign	Het
Scn10a	A	G	9: 119,438,742 (GRCm39)	I1708T	probably damaging	Het
Sdk2	A	T	11: 113,729,358 (GRCm39)	F1073Y	probably damaging	Het
Sp100	A	G	1: 85,594,650 (GRCm39)	D170G	probably benign	Het
Spock1	A	T	13: 57,583,994 (GRCm39)		probably benign	Het
Strbp	A	G	2: 37,515,297 (GRCm39)	L243P	probably damaging	Het
Tex55	A	T	16: 38,648,586 (GRCm39)	D174E	probably benign	Het
Tgm5	T	A	2: 120,882,920 (GRCm39)	T446S	probably damaging	Het
Tmem59l	C	T	8: 70,937,431 (GRCm39)	V239I	probably benign	Het
Trav8-1	A	T	14: 53,707,662 (GRCm39)	T101S	probably benign	Het
Triml1	T	C	8: 43,594,350 (GRCm39)	D27G	probably damaging	Het
Vmn2r54	T	C	7: 12,349,227 (GRCm39)	E785G	probably benign	Het
Vps13c	A	G	9: 67,862,350 (GRCm39)		probably null	Het
Wwp2	C	T	8: 108,276,153 (GRCm39)	R64C	probably damaging	Het
Zfp608	T	C	18: 55,024,890 (GRCm39)	H1460R	probably damaging	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
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
R0257:C3ar1	UTSW	6	122,827,746 (GRCm39)	missense	probably benign	0.25
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

Posted On

2014-05-07