Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

122847138-122856161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122851235 bp

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]

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: 89,861,423	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,595,371	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,602,925	L926F	probably damaging	Het
Asgr2	A	T	11: 70,098,051		probably null	Het
Caskin2	T	C	11: 115,804,717	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,820,399	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,294,332		probably null	Het
Cfap45	T	G	1: 172,534,049	M231R	probably damaging	Het
Clcn7	A	C	17: 25,155,376	N464H	probably benign	Het
Col20a1	T	A	2: 181,009,368		probably benign	Het
Col7a1	T	A	9: 108,967,999		probably benign	Het
Cops7a	T	C	6: 124,962,416	D90G	probably benign	Het
Ctcf	T	C	8: 105,670,232	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,133,069	V100A	probably benign	Het
Dcaf1	T	A	9: 106,859,601	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,074,132	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,718,249	E1009*	probably null	Het
Epg5	C	A	18: 77,985,101	R1286S	probably damaging	Het
Etv1	T	C	12: 38,835,061		probably benign	Het
Exosc7	T	C	9: 123,135,891		probably benign	Het
Fam227a	T	C	15: 79,612,546	D610G	possibly damaging	Het
Fat4	T	A	3: 38,979,774	M2525K	probably benign	Het
Gimap5	G	T	6: 48,753,065	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596	S79T	probably damaging	Het
Gm10093	T	C	17: 78,492,129	V183A	probably damaging	Het
Gpnmb	C	T	6: 49,047,450	T233I	probably null	Het
Hyls1	T	C	9: 35,562,067	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,495,654	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,702,307	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,963,339	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,755,843	V264D	probably damaging	Het
Jph1	A	T	1: 17,097,384	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,358,274	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,025,087	F144S	probably damaging	Het
Kcnq1	G	A	7: 143,184,504	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,397,355	V813E	probably damaging	Het
Kntc1	T	A	5: 123,811,376	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,480,244	R241W	probably damaging	Het
Lgr5	T	C	10: 115,452,414	N703S	probably damaging	Het
Map4k1	A	T	7: 28,988,607	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,613,519	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,891,726	G350C	probably damaging	Het
Myh2	A	T	11: 67,191,773	T1390S	possibly damaging	Het
Npat	T	A	9: 53,558,226		probably benign	Het
Nr2e1	T	A	10: 42,567,973	D251V	possibly damaging	Het
Olfr1425	C	T	19: 12,074,057	V192I	probably benign	Het
Olfr1461	C	A	19: 13,165,403	P130T	probably damaging	Het
Olfr54	A	G	11: 51,027,335	N111S	probably benign	Het
Plekha5	T	A	6: 140,524,895	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,479,188	V368A	probably damaging	Het
Psmb8	T	A	17: 34,200,194	L154Q	probably damaging	Het
Rab40c	A	C	17: 25,884,670	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,487,689	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,428,698	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,154,638	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,802,434	H111R	probably damaging	Het
Sspo	C	A	6: 48,475,887	P2843H	probably damaging	Het
Stk39	T	C	2: 68,314,564	T389A	probably benign	Het
Synrg	T	A	11: 84,019,705	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,687,814	S229N	probably benign	Het
Thsd1	G	A	8: 22,252,231	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,694,549	D1387E	probably benign	Het
Tmem145	G	T	7: 25,311,391	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,179,420	V187A	probably damaging	Het
Unc13c	T	A	9: 73,693,242	M1407L	probably benign	Het
Vps39	C	T	2: 120,323,128	G655D	probably benign	Het
Wwtr1	T	C	3: 57,574,820		probably benign	Het
Xrn1	T	C	9: 96,048,344	S1535P	probably damaging	Het

Other mutations in C3ar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01818:C3ar1	APN	6	122850419	missense	probably benign	0.00
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
R0257:C3ar1	UTSW	6	122850787	missense	probably benign	0.25
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
R7985:C3ar1	UTSW	6	122850005	missense	probably damaging	1.00
R8049:C3ar1	UTSW	6	122850100	missense	probably damaging	0.97
X0065:C3ar1	UTSW	6	122850765	missense	probably benign	0.00

Posted On

2014-05-07