Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:C3ar1'

180701

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 #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

122824099-122833116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122828194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 8 (T8S)

Ref Sequence

ENSEMBL: ENSMUSP00000048092 (fasta)

Gene Model

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

AlphaFold

O09047

Predicted Effect

probably benign
Transcript: ENSMUST00000042081
AA Change: T8S

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000048092
Gene: ENSMUSG00000040552
AA Change: T8S

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 90,009,282 (GRCm39)	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,244,579 (GRCm39)	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,423,287 (GRCm39)	L926F	probably damaging	Het
Asgr2	A	T	11: 69,988,877 (GRCm39)		probably null	Het
Caskin2	T	C	11: 115,695,543 (GRCm39)	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,904,856 (GRCm39)	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,212,569 (GRCm39)		probably null	Het
Cfap45	T	G	1: 172,361,616 (GRCm39)	M231R	probably damaging	Het
Clcn7	A	C	17: 25,374,350 (GRCm39)	N464H	probably benign	Het
Col20a1	T	A	2: 180,651,161 (GRCm39)		probably benign	Het
Col7a1	T	A	9: 108,797,067 (GRCm39)		probably benign	Het
Cops7a	T	C	6: 124,939,379 (GRCm39)	D90G	probably benign	Het
Ctcf	T	C	8: 106,396,864 (GRCm39)	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,021,306 (GRCm39)	V100A	probably benign	Het
Dcaf1	T	A	9: 106,736,800 (GRCm39)	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,800,760 (GRCm39)	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,768,277 (GRCm39)	E1009*	probably null	Het
Epg5	C	A	18: 78,028,316 (GRCm39)	R1286S	probably damaging	Het
Etv1	T	C	12: 38,885,060 (GRCm39)		probably benign	Het
Exosc7	T	C	9: 122,964,956 (GRCm39)		probably benign	Het
Fam227a	T	C	15: 79,496,747 (GRCm39)	D610G	possibly damaging	Het
Fat4	T	A	3: 39,033,923 (GRCm39)	M2525K	probably benign	Het
Gimap5	G	T	6: 48,729,999 (GRCm39)	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596 (GRCm39)	S79T	probably damaging	Het
Gpnmb	C	T	6: 49,024,384 (GRCm39)	T233I	probably null	Het
Hdac1-ps	T	C	17: 78,799,558 (GRCm39)	V183A	probably damaging	Het
Hyls1	T	C	9: 35,473,363 (GRCm39)	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,459,274 (GRCm39)	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,665,927 (GRCm39)	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,940,323 (GRCm39)	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,631,591 (GRCm39)	V264D	probably damaging	Het
Jph1	A	T	1: 17,167,608 (GRCm39)	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,265,695 (GRCm39)	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,751,826 (GRCm39)	F144S	probably damaging	Het
Kcnq1	G	A	7: 142,738,241 (GRCm39)	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,704,355 (GRCm39)	V813E	probably damaging	Het
Kntc1	T	A	5: 123,949,439 (GRCm39)	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,637,586 (GRCm39)	R241W	probably damaging	Het
Lgr5	T	C	10: 115,288,319 (GRCm39)	N703S	probably damaging	Het
Map4k1	A	T	7: 28,688,032 (GRCm39)	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,520,940 (GRCm39)	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,868,708 (GRCm39)	G350C	probably damaging	Het
Myh2	A	T	11: 67,082,599 (GRCm39)	T1390S	possibly damaging	Het
Npat	T	A	9: 53,469,526 (GRCm39)		probably benign	Het
Nr2e1	T	A	10: 42,443,969 (GRCm39)	D251V	possibly damaging	Het
Or1x2	A	G	11: 50,918,162 (GRCm39)	N111S	probably benign	Het
Or4d10	C	T	19: 12,051,421 (GRCm39)	V192I	probably benign	Het
Or5b107	C	A	19: 13,142,767 (GRCm39)	P130T	probably damaging	Het
Plekha5	T	A	6: 140,470,621 (GRCm39)	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,529,256 (GRCm39)	V368A	probably damaging	Het
Psmb8	T	A	17: 34,419,168 (GRCm39)	L154Q	probably damaging	Het
Rab40c	A	C	17: 26,103,644 (GRCm39)	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,437,689 (GRCm39)	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,078,122 (GRCm39)	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,082,368 (GRCm39)	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,678,530 (GRCm39)	H111R	probably damaging	Het
Sspo	C	A	6: 48,452,821 (GRCm39)	P2843H	probably damaging	Het
Stk39	T	C	2: 68,144,908 (GRCm39)	T389A	probably benign	Het
Synrg	T	A	11: 83,910,531 (GRCm39)	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,908,076 (GRCm39)	S229N	probably benign	Het
Thsd1	G	A	8: 22,742,247 (GRCm39)	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,344,297 (GRCm39)	D1387E	probably benign	Het
Tmem145	G	T	7: 25,010,816 (GRCm39)	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,090,718 (GRCm39)	V187A	probably damaging	Het
Unc13c	T	A	9: 73,600,524 (GRCm39)	M1407L	probably benign	Het
Vps39	C	T	2: 120,153,609 (GRCm39)	G655D	probably benign	Het
Wwtr1	T	C	3: 57,482,241 (GRCm39)		probably benign	Het
Xrn1	T	C	9: 95,930,397 (GRCm39)	S1535P	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
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
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