Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02358:C3ar1'

290380

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 #

IGL02358

Quality Score

Status

Chromosome

Chromosomal Location

122824099-122833116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122826934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 428 (Y428N)

Ref Sequence

ENSEMBL: ENSMUSP00000048092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003238] [ENSMUST00000042081] [ENSMUST00000177927]

AlphaFold

O09047

Predicted Effect

probably benign
Transcript: ENSMUST00000003238

SMART Domains

Protein: ENSMUSP00000003238
Gene: ENSMUSG00000003154

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
FH	64	153	1.77e-47	SMART
low complexity region	207	222	N/A	INTRINSIC
low complexity region	266	275	N/A	INTRINSIC
low complexity region	290	314	N/A	INTRINSIC
low complexity region	359	393	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000042081
AA Change: Y428N

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

SMART Domains

Protein: ENSMUSP00000048092
Gene: ENSMUSG00000040552
AA Change: Y428N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177927

SMART Domains

Protein: ENSMUSP00000137645
Gene: ENSMUSG00000003154

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
FH	64	153	1.77e-47	SMART
low complexity region	207	222	N/A	INTRINSIC
low complexity region	266	275	N/A	INTRINSIC
low complexity region	290	314	N/A	INTRINSIC
low complexity region	359	393	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,474,418 (GRCm39)	T448A	possibly damaging	Het
Adamtsl1	T	A	4: 86,075,110 (GRCm39)		probably null	Het
Adgra3	A	G	5: 50,215,900 (GRCm39)	V73A	probably benign	Het
Adgre4	G	A	17: 56,150,209 (GRCm39)	R600Q	probably benign	Het
Aggf1	T	C	13: 95,489,358 (GRCm39)		probably benign	Het
Aktip	C	T	8: 91,853,520 (GRCm39)	V96I	possibly damaging	Het
Atm	A	G	9: 53,433,476 (GRCm39)	I258T	probably benign	Het
Baz1b	C	T	5: 135,273,160 (GRCm39)	T1428I	probably damaging	Het
Cadps	A	G	14: 12,597,380 (GRCm38)	S437P	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cenpq	A	G	17: 41,235,223 (GRCm39)	L213P	probably damaging	Het
Cept1	A	G	3: 106,446,504 (GRCm39)		probably null	Het
Cln6	A	G	9: 62,754,407 (GRCm39)	I150V	probably benign	Het
Cyb5r3	T	C	15: 83,045,136 (GRCm39)	T94A	probably benign	Het
Cyp2c67	A	G	19: 39,605,861 (GRCm39)	M345T	probably damaging	Het
Dapk2	T	A	9: 66,153,805 (GRCm39)	I187N	probably damaging	Het
Dkk2	A	G	3: 131,883,673 (GRCm39)	D191G	probably benign	Het
Dnah8	T	A	17: 30,986,785 (GRCm39)	F3145I	probably damaging	Het
Dock1	A	C	7: 134,710,548 (GRCm39)	D1190A	possibly damaging	Het
Ehhadh	T	A	16: 21,581,620 (GRCm39)	L457F	probably damaging	Het
Ercc6l2	T	C	13: 64,001,497 (GRCm39)	L552P	probably damaging	Het
Ghrhr	T	G	6: 55,361,138 (GRCm39)	I284S	probably damaging	Het
Gm10288	A	T	3: 146,544,954 (GRCm39)		noncoding transcript	Het
Gp6	T	G	7: 4,397,507 (GRCm39)	I19L	probably benign	Het
Gria4	G	A	9: 4,456,206 (GRCm39)	S698L	possibly damaging	Het
Ifng	A	T	10: 118,278,410 (GRCm39)	I53F	possibly damaging	Het
Kazn	A	C	4: 141,874,327 (GRCm39)		probably null	Het
Khk	A	T	5: 31,085,848 (GRCm39)	I136F	probably damaging	Het
Krtap9-3	T	A	11: 99,488,885 (GRCm39)		probably benign	Het
Lnx1	T	A	5: 74,788,027 (GRCm39)	N98Y	probably damaging	Het
Lsp1	T	C	7: 142,042,679 (GRCm39)		probably null	Het
Lta4h	A	T	10: 93,314,329 (GRCm39)	N467I	probably benign	Het
Mcmbp	C	A	7: 128,311,505 (GRCm39)		probably null	Het
Me2	A	T	18: 73,931,038 (GRCm39)	I85K	probably benign	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Nadsyn1	A	T	7: 143,353,649 (GRCm39)	Y525N	probably damaging	Het
Nt5e	G	A	9: 88,209,946 (GRCm39)	V70M	probably damaging	Het
Or52e4	G	A	7: 104,706,182 (GRCm39)	G243D	probably damaging	Het
Or8b36	A	T	9: 37,937,332 (GRCm39)	I77L	possibly damaging	Het
Or9k7	T	G	10: 130,046,603 (GRCm39)	Y132S	probably damaging	Het
Pkd1l3	A	G	8: 110,373,129 (GRCm39)		probably benign	Het
Ppm1d	A	T	11: 85,236,541 (GRCm39)	E440V	probably damaging	Het
Pramel32	A	T	4: 88,546,127 (GRCm39)	I405N	probably damaging	Het
Ripor2	A	T	13: 24,915,572 (GRCm39)	E1047D	probably damaging	Het
Rwdd2b	G	A	16: 87,234,336 (GRCm39)	A18V	probably benign	Het
Serpina5	G	T	12: 104,068,384 (GRCm39)	K148N	probably damaging	Het
Setx	A	G	2: 29,036,976 (GRCm39)	K1154E	probably benign	Het
Spata31	T	A	13: 65,069,032 (GRCm39)	N393K	probably benign	Het
Spcs2	T	C	7: 99,498,241 (GRCm39)	K81R	probably damaging	Het
Stt3b	T	A	9: 115,079,975 (GRCm39)	M646L	possibly damaging	Het
Suco	T	C	1: 161,646,195 (GRCm39)	T1169A	probably benign	Het
Susd1	A	T	4: 59,427,985 (GRCm39)	Y66*	probably null	Het
Trim34a	T	A	7: 103,910,441 (GRCm39)	C414*	probably null	Het
Trim58	G	A	11: 58,542,176 (GRCm39)	G379S	probably damaging	Het
Vmn2r50	T	A	7: 9,787,002 (GRCm39)	Q35L	probably benign	Het
Zc3hc1	C	A	6: 30,376,057 (GRCm39)	G168W	probably benign	Het
Zfp418	T	C	7: 7,177,690 (GRCm39)		probably benign	Het
Zfp57	G	A	17: 37,320,919 (GRCm39)	V258I	probably benign	Het
Zng1	A	T	19: 24,909,026 (GRCm39)		probably null	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
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

2015-04-16