Mutagenetix > Incidental Mutation

Incidental Mutation 'R6505:C3ar1'

523721

Institutional Source

Beutler Lab

Gene Symbol

C3ar1

Ensembl Gene

ENSMUSG00000040552

Gene Name

complement component 3a receptor 1

Synonyms

C3aR, anaphylatoxin C3a receptor

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6505 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122847138-122856161 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122850640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 206 (L206P)

Ref Sequence

ENSEMBL: ENSMUSP00000048092 (fasta)

Gene Model

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

AlphaFold

O09047

Predicted Effect

probably benign
Transcript: ENSMUST00000042081
AA Change: L206P

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000048092
Gene: ENSMUSG00000040552
AA Change: L206P

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

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (84/84)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,001,940	I424L	probably benign	Het
2610028H24Rik	C	T	10: 76,449,281	A8V	probably benign	Het
Ago1	G	A	4: 126,463,835	P16S	probably benign	Het
Ak5	C	T	3: 152,481,669	E394K	probably benign	Het
Aldh7a1	T	C	18: 56,526,996	Y498C	probably damaging	Het
Alox12	T	A	11: 70,250,204	D335V	probably damaging	Het
Alx4	A	T	2: 93,668,559	Y212F	probably damaging	Het
Asb16	A	G	11: 102,276,477	E223G	probably damaging	Het
Atg9b	C	T	5: 24,390,577	V235M	probably damaging	Het
BB014433	A	G	8: 15,042,304	V183A	probably benign	Het
Brca1	T	A	11: 101,523,541	M1256L	probably benign	Het
Bst1	A	G	5: 43,820,590	I94V	probably benign	Het
Cabs1	T	A	5: 87,980,663	M391K	possibly damaging	Het
Cars	C	T	7: 143,565,007	R599Q	probably damaging	Het
Ccdc190	T	A	1: 169,933,023	Y73*	probably null	Het
Cd177	A	C	7: 24,744,246	L809W	probably benign	Het
Cemip	C	A	7: 83,951,597	G939*	probably null	Het
Clca3b	T	A	3: 144,825,259	I777F	probably benign	Het
Cma2	T	C	14: 55,973,779	I176T	probably damaging	Het
Col12a1	T	A	9: 79,647,605	T2064S	probably damaging	Het
Csf1r	A	G	18: 61,129,733	N860S	probably damaging	Het
Dab1	T	A	4: 104,512,264	C3S	probably benign	Het
Dennd4b	A	G	3: 90,267,611	E50G	probably damaging	Het
Dis3l	A	T	9: 64,307,513	S925T	probably benign	Het
Disp1	T	C	1: 183,086,512	N1448S	probably benign	Het
Dpp10	T	C	1: 123,336,851	I747M	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Ephx4	A	T	5: 107,403,656	K36*	probably null	Het
Fam135a	C	T	1: 24,014,872	V1195I	probably damaging	Het
Fap	A	T	2: 62,546,603	Y234*	probably null	Het
Fem1c	A	T	18: 46,505,875	N353K	possibly damaging	Het
Furin	C	A	7: 80,393,617	R282L	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm5930	A	G	14: 44,331,371	*265Q	probably null	Het
Hcrtr1	T	A	4: 130,137,586	T15S	probably benign	Het
Ifnar1	C	T	16: 91,499,537	Q309*	probably null	Het
Il18r1	A	T	1: 40,489,707	I304L	probably benign	Het
Ino80	A	T	2: 119,451,441	Y185N	probably damaging	Het
Itgb2	G	A	10: 77,559,673	C536Y	probably damaging	Het
Ivns1abp	T	C	1: 151,360,993	M435T	probably benign	Het
Kcnh4	T	C	11: 100,757,085	N151D	probably benign	Het
Lama3	T	C	18: 12,495,348	M1499T	probably benign	Het
Lamb1	A	T	12: 31,323,462	T1397S	possibly damaging	Het
Leng1	G	A	7: 3,661,212	R239*	probably null	Het
Map2k4	A	T	11: 65,693,529	N309K	possibly damaging	Het
Mcm3	A	G	1: 20,803,544	F784S	probably damaging	Het
Mrgpra9	T	A	7: 47,235,136	N260I	probably benign	Het
Mrnip	C	A	11: 50,199,852	T281N	possibly damaging	Het
Myo9b	A	G	8: 71,355,857	T1715A	possibly damaging	Het
Nectin3	A	G	16: 46,448,821	I406T	possibly damaging	Het
Neto1	A	G	18: 86,498,574	T339A	possibly damaging	Het
Ntn1	T	C	11: 68,213,199	D541G	probably damaging	Het
Nuak2	C	A	1: 132,316,394	H55Q	probably damaging	Het
Nufip2	A	G	11: 77,691,613	T118A	probably benign	Het
Olfr1126	T	A	2: 87,457,927	V254E	probably damaging	Het
Olfr1155	A	T	2: 87,943,174	Y151*	probably null	Het
Olfr19	A	T	16: 16,673,920	D20E	probably benign	Het
Olfr213	C	T	6: 116,540,600	T49M	probably benign	Het
Olfr266	T	G	3: 106,822,322	N79T	possibly damaging	Het
Olfr483	T	C	7: 108,103,567	V86A	probably benign	Het
Olfr596	C	A	7: 103,309,793	A24D	probably benign	Het
Olfr609	T	A	7: 103,492,651	T76S	probably damaging	Het
Olfr847	T	C	9: 19,374,941	*313W	probably null	Het
Pcdhb5	T	A	18: 37,320,880	H104Q	probably benign	Het
Phf11a	T	C	14: 59,277,537	R232G	probably damaging	Het
Pik3r5	C	T	11: 68,492,789	T478I	probably benign	Het
Prkacb	T	A	3: 146,732,646	E380V	probably damaging	Het
Prl7c1	G	T	13: 27,773,793	D221E	probably damaging	Het
Prr11	T	A	11: 87,106,124	K5*	probably null	Het
Prrc2b	G	A	2: 32,222,320	G1932D	probably damaging	Het
Rexo1	A	T	10: 80,543,011	Y1064N	possibly damaging	Het
Rnf182	C	T	13: 43,668,671	Q233*	probably null	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sash1	C	G	10: 8,729,527	G1033A	probably benign	Het
Sncaip	C	A	18: 52,906,537	S189*	probably null	Het
Sorl1	T	C	9: 42,071,234	Y350C	probably damaging	Het
Speg	T	C	1: 75,406,684	V1141A	possibly damaging	Het
Speg	C	A	1: 75,429,523	D3091E	possibly damaging	Het
Sucnr1	A	T	3: 60,086,723	D224V	probably benign	Het
Tg	G	A	15: 66,759,558	A559T	probably damaging	Het
Tmem132d	A	G	5: 127,784,438	I873T	probably benign	Het
Tmem229a	C	T	6: 24,954,921	C278Y	probably damaging	Het
Togaram1	T	C	12: 64,966,590	I205T	possibly damaging	Het
Usp19	T	A	9: 108,496,883	L713Q	probably damaging	Het
Vsig10	A	G	5: 117,351,759	D530G	possibly damaging	Het
Zfp106	A	G	2: 120,534,502	S475P	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
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
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
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
R8936:C3ar1	UTSW	6	122851085	missense	probably damaging	0.97
R9337:C3ar1	UTSW	6	122850319	missense	probably benign	0.00
X0065:C3ar1	UTSW	6	122850765	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGTGAGGACATTAGGAGGCTTTC -3'
(R):5'- CATCGAAACGTGAGAACCGC -3'

Sequencing Primer
(F):5'- AGGCTTTCCACCATAATGGG -3'
(R):5'- GAAACGTGAGAACCGCCTTCG -3'

Posted On

2018-06-22