Mutagenetix > Incidental Mutation

Incidental Mutation 'R7985:C3ar1'

651424

Institutional Source

Beutler Lab

Gene Symbol

C3ar1

Ensembl Gene

ENSMUSG00000040552

Gene Name

complement component 3a receptor 1

Synonyms

C3aR, anaphylatoxin C3a receptor

MMRRC Submission

046026-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122824099-122833116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122826964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 418 (S418T)

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: S418T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048092
Gene: ENSMUSG00000040552
AA Change: S418T

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (54/55)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,494,693 (GRCm39)	S77R	unknown	Het
Adamts1	T	C	16: 85,595,002 (GRCm39)	Y582C	probably damaging	Het
Ahnak2	A	T	12: 112,745,398 (GRCm39)	V683E		Het
Allc	T	G	12: 28,603,971 (GRCm39)	T371P	probably damaging	Het
Ankrd12	A	G	17: 66,291,191 (GRCm39)	I1414T	probably benign	Het
Bahcc1	A	G	11: 120,163,717 (GRCm39)	K672E	probably damaging	Het
Calca	A	G	7: 114,234,413 (GRCm39)	V12A	possibly damaging	Het
Carmil3	A	G	14: 55,734,409 (GRCm39)	E410G	probably benign	Het
Cfh	A	G	1: 140,036,564 (GRCm39)	F680S	probably damaging	Het
Cracd	T	C	5: 76,805,897 (GRCm39)	V123A	unknown	Het
Csf3	G	A	11: 98,593,273 (GRCm39)	G130D	probably damaging	Het
Cuedc1	A	T	11: 88,073,342 (GRCm39)	Q169L	probably benign	Het
Cyp2c66	T	A	19: 39,102,430 (GRCm39)	W20R	probably null	Het
Dguok	C	T	6: 83,457,914 (GRCm39)	E240K	probably damaging	Het
Dlg1	T	G	16: 31,606,923 (GRCm39)	Y220*	probably null	Het
Dnah7a	T	C	1: 53,557,886 (GRCm39)	Y2176C	probably damaging	Het
Dnai1	T	C	4: 41,630,055 (GRCm39)	I488T	probably benign	Het
Dock1	G	T	7: 134,348,683 (GRCm39)	C299F	possibly damaging	Het
Ebi3	C	T	17: 56,260,997 (GRCm39)	T59M	probably benign	Het
Esrp1	G	A	4: 11,367,153 (GRCm39)	S160F	probably benign	Het
Evi5l	A	G	8: 4,253,536 (GRCm39)	D471G	probably benign	Het
Farp2	T	C	1: 93,504,246 (GRCm39)	F341S	probably damaging	Het
Fbn1	A	G	2: 125,143,798 (GRCm39)	V2777A	probably benign	Het
Glcci1	T	C	6: 8,573,186 (GRCm39)	I225T	probably damaging	Het
Gm3336	A	G	8: 71,173,176 (GRCm39)	T63A	unknown	Het
Gm9767	A	G	10: 25,954,681 (GRCm39)	T78A	unknown	Het
H2-T5	T	G	17: 36,478,445 (GRCm39)	T168P	probably damaging	Het
Habp4	T	A	13: 64,323,860 (GRCm39)	M261K	probably benign	Het
Herc2	A	G	7: 55,814,992 (GRCm39)	T2744A	probably benign	Het
Hlx	A	G	1: 184,464,223 (GRCm39)	V39A	probably benign	Het
Ifi204	G	A	1: 173,587,772 (GRCm39)	T129I	possibly damaging	Het
Itfg1	A	G	8: 86,452,197 (GRCm39)	I534T	probably damaging	Het
Klhl33	A	T	14: 51,128,962 (GRCm39)	C496S	probably benign	Het
Lamb1	T	A	12: 31,350,214 (GRCm39)	V713D	possibly damaging	Het
Mon2	G	T	10: 122,852,213 (GRCm39)	H1052Q	probably damaging	Het
Ndst2	T	C	14: 20,778,478 (GRCm39)		probably null	Het
Nphp1	A	T	2: 127,587,829 (GRCm39)	M582K	probably damaging	Het
Nt5el	C	T	13: 105,256,482 (GRCm39)	T517I	probably benign	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or2w3b	A	G	11: 58,623,532 (GRCm39)	V153A	possibly damaging	Het
Or8b47	T	A	9: 38,435,239 (GRCm39)	D70E	probably damaging	Het
Padi2	A	T	4: 140,659,403 (GRCm39)	H236L	probably benign	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Psenen	T	C	7: 30,261,503 (GRCm39)	I75V	probably benign	Het
Pycr1	A	T	11: 120,533,746 (GRCm39)	M37K	probably benign	Het
Rpl4	T	A	9: 64,085,212 (GRCm39)	N317K	probably damaging	Het
Scart2	T	A	7: 139,876,806 (GRCm39)	D732E	probably damaging	Het
Scn8a	T	A	15: 100,914,843 (GRCm39)		probably null	Het
Sdk1	A	G	5: 142,113,602 (GRCm39)	T1550A	probably damaging	Het
Shisa6	G	T	11: 66,265,990 (GRCm39)	T246K		Het
Sis	A	T	3: 72,844,294 (GRCm39)		probably null	Het
Slc22a14	A	C	9: 118,999,704 (GRCm39)	S496A	probably benign	Het
Slc8a3	G	A	12: 81,361,767 (GRCm39)	R351C	probably damaging	Het
Surf2	A	G	2: 26,809,288 (GRCm39)	K202R	probably benign	Het
Tnxb	T	A	17: 34,935,984 (GRCm39)		probably null	Het
Ugt2b36	T	A	5: 87,239,983 (GRCm39)	N134I	probably damaging	Het
Wdr97	T	C	15: 76,245,687 (GRCm39)	V1308A		Het
Xpr1	G	A	1: 155,188,641 (GRCm39)	A333V	possibly damaging	Het
Zfp408	A	T	2: 91,476,776 (GRCm39)	M126K	probably benign	Het
Zfy2	T	C	Y: 2,116,263 (GRCm39)	Q259R	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTTCACCTGAGAACTCTGC -3'
(R):5'- CCAACTTCACCAAGTCTCGG -3'

Sequencing Primer
(F):5'- GAGAACTCTGCTTAGGTTCCCAG -3'
(R):5'- GTCTCGGAACAAAACCTTTCGGG -3'

Posted On

2020-09-15