Mutagenetix > Incidental Mutations

Incidental Mutation 'R0195:C3ar1'

23364

Institutional Source

Beutler Lab

Gene Symbol

C3ar1

Ensembl Gene

ENSMUSG00000040552

Gene Name

complement component 3a receptor 1

Synonyms

C3aR, anaphylatoxin C3a receptor

MMRRC Submission

038454-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122847138-122856161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 122851155 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 34 (C34W)

Ref Sequence

ENSEMBL: ENSMUSP00000048092 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042081
AA Change: C34W

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048092
Gene: ENSMUSG00000040552
AA Change: C34W

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

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.4%

Validation Efficiency

98% (156/160)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,512,974	R362P	possibly damaging	Het
Adam24	T	A	8: 40,681,766	W758R	probably benign	Het
Adam26b	G	T	8: 43,520,270	T565K	probably damaging	Het
Adam7	T	G	14: 68,527,627		probably benign	Het
Adamts19	A	G	18: 58,969,870		probably benign	Het
Add1	A	G	5: 34,610,646		probably benign	Het
Ago1	A	G	4: 126,463,691	C64R	probably benign	Het
Ankrd12	C	T	17: 66,049,948		probably null	Het
Arhgef33	A	G	17: 80,381,434	K820E	probably damaging	Het
Arl9	T	C	5: 77,006,494	V8A	probably damaging	Het
Aspm	T	C	1: 139,479,135	L1920P	probably damaging	Het
Atad2	A	G	15: 58,099,954		probably benign	Het
Atp2b2	A	T	6: 113,793,874	V358E	probably benign	Het
C6	G	A	15: 4,763,471	V353M	probably benign	Het
Capn7	T	C	14: 31,365,581	I593T	probably damaging	Het
Casc3	T	A	11: 98,821,493	D119E	probably damaging	Het
Ccna1	T	A	3: 55,054,364	E45V	probably damaging	Het
Cdc37	A	G	9: 21,142,280	V180A	probably benign	Het
Cdh23	A	G	10: 60,317,059	I2393T	probably damaging	Het
Cnbd1	T	C	4: 18,906,988		probably benign	Het
Cngb3	A	T	4: 19,280,975	M15L	probably benign	Het
Crygn	A	G	5: 24,756,038	M90T	possibly damaging	Het
Cse1l	T	A	2: 166,940,088	S661R	probably benign	Het
D830013O20Rik	C	T	12: 73,364,321		noncoding transcript	Het
Ddx24	C	T	12: 103,418,961		probably null	Het
Dnah3	A	T	7: 120,077,775		probably null	Het
Dnah9	C	T	11: 65,895,905	G3634E	probably benign	Het
Dnttip2	A	T	3: 122,276,161	T342S	probably benign	Het
Evx2	G	T	2: 74,659,044	R125S	probably damaging	Het
Fbxl5	A	T	5: 43,770,798	L40Q	probably damaging	Het
Git1	T	A	11: 77,501,073	D240E	probably benign	Het
Glp2r	T	A	11: 67,709,708	K438N	probably damaging	Het
Gm4778	A	G	3: 94,265,922	Y79C	possibly damaging	Het
Hivep1	T	A	13: 42,156,153	I623N	probably benign	Het
Il17re	A	G	6: 113,466,137	E312G	probably damaging	Het
Itgb7	G	A	15: 102,222,183		probably benign	Het
Itpr3	A	G	17: 27,114,114	Y1900C	probably damaging	Het
Krt2	G	A	15: 101,813,191	Q472*	probably null	Het
Krtap5-1	A	C	7: 142,296,697	C125G	unknown	Het
Macf1	A	G	4: 123,434,916	S2554P	probably damaging	Het
March10	C	T	11: 105,385,525	G646R	probably damaging	Het
Mrpl48	A	C	7: 100,546,353		probably benign	Het
Myo16	A	T	8: 10,315,538		probably benign	Het
Nrcam	A	T	12: 44,584,845	E1060D	probably benign	Het
Nsd3	T	A	8: 25,680,693	C731S	probably damaging	Het
Nup85	T	G	11: 115,564,531	M1R	probably null	Het
Nxnl2	G	T	13: 51,171,447	R42L	probably damaging	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Olfr272	G	A	4: 52,910,849	T315M	probably benign	Het
Orc1	C	T	4: 108,614,308	R786*	probably null	Het
P2ry6	A	T	7: 100,938,697	W152R	probably damaging	Het
Pex5l	T	C	3: 32,992,953	N283D	possibly damaging	Het
Pgk2	T	C	17: 40,207,731	I269V	probably benign	Het
Phgdh	T	G	3: 98,316,550		probably benign	Het
Pzp	A	T	6: 128,487,478	L1362Q	probably damaging	Het
Rbbp9	T	C	2: 144,548,106		probably benign	Het
Rffl	A	G	11: 82,810,163	L244P	probably damaging	Het
Serpina11	T	C	12: 103,985,872	Y213C	probably damaging	Het
Srsf11	A	G	3: 158,036,535		probably benign	Het
Sspo	T	A	6: 48,486,636	V3785E	probably benign	Het
Svep1	A	T	4: 58,089,514	S1632T	possibly damaging	Het
Tm4sf1	T	A	3: 57,293,059	D74V	probably damaging	Het
Tmprss15	T	A	16: 79,034,334	T393S	probably benign	Het
Tnfaip3	A	G	10: 19,005,713	L275P	probably damaging	Het
Trim30c	A	G	7: 104,382,429	V393A	probably benign	Het
Tssk2	T	A	16: 17,899,575	S281T	probably benign	Het
Tubb4a	A	G	17: 57,081,499	S176P	probably damaging	Het
Unc45b	T	A	11: 82,937,828	M785K	probably damaging	Het
Vldlr	A	T	19: 27,238,386	D261V	probably damaging	Het
Vmn1r176	G	T	7: 23,835,585	Q48K	probably benign	Het
Vmn2r110	A	T	17: 20,574,055	L784Q	probably benign	Het
Vps13b	A	G	15: 35,471,899	T783A	probably benign	Het
Zfp800	A	G	6: 28,243,847	M373T	probably damaging	Het
Zmym1	A	G	4: 127,047,911	F895L	possibly 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
IGL01936:C3ar1	APN	6	122851235	missense	probably benign	0.04
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
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

Predicted Primers

PCR Primer
(F):5'- TCGGTCCAGGCTAATGGCAGTAAG -3'
(R):5'- GAAGGAGTGCTAACGAGGTTCTGTG -3'

Sequencing Primer
(F):5'- GTTTGCACAGGAACAAGCC -3'
(R):5'- CTAACGAGGTTCTGTGAGGGG -3'

Posted On

2013-04-16