Mutagenetix > Incidental Mutations

Incidental Mutation 'R5963:C5ar1'

471872

Institutional Source

Beutler Lab

Gene Symbol

C5ar1

Ensembl Gene

ENSMUSG00000049130

Gene Name

complement component 5a receptor 1

Synonyms

C5aR, D7Msu1, Cd88, C5r1

MMRRC Submission

044148-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R5963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16246743-16259540 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16248822 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 91 (V91A)

Ref Sequence

ENSEMBL: ENSMUSP00000129972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050770] [ENSMUST00000168818] [ENSMUST00000171425] [ENSMUST00000209442]

AlphaFold

P30993

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050770
AA Change: V91A

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000060003
Gene: ENSMUSG00000049130
AA Change: V91A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	48	312	2.2e-5	PFAM
Pfam:7tm_1	54	301	9.4e-41	PFAM
low complexity region	332	348	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168818
AA Change: V91A

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129972
Gene: ENSMUSG00000049130
AA Change: V91A

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	48	312	2e-5	PFAM
Pfam:7tm_1	54	301	9.2e-52	PFAM
low complexity region	332	348	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171425

SMART Domains

Protein: ENSMUSP00000133056
Gene: ENSMUSG00000074361

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
low complexity region	53	68	N/A	INTRINSIC
Pfam:7tm_1	72	257	7e-21	PFAM
Pfam:7tm_1	243	311	8.2e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209442
AA Change: V91A

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

99% (68/69)

MGI Phenotype

PHENOTYPE: Homozygous targeted mutants have impaired C5 responses that can show increased or decreased acute inflammation under different circumstances, and thus affect severity of disease or infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	A	G	7: 97,379,830	K131E	probably benign	Het
Ank3	T	A	10: 69,987,226	L575*	probably null	Het
Aqr	T	C	2: 114,126,961	T819A	probably damaging	Het
Bbs2	A	T	8: 94,081,031	S407T	probably benign	Het
Bmper	T	A	9: 23,375,593	C272S	probably benign	Het
Btbd9	C	T	17: 30,334,218		probably null	Het
Ccdc138	A	G	10: 58,575,757	H649R	possibly damaging	Het
Cfap43	A	T	19: 47,745,574	V1451E	probably benign	Het
Cfap46	T	A	7: 139,651,595	M901L	probably damaging	Het
Cherp	G	T	8: 72,461,535		probably benign	Het
D430041D05Rik	C	T	2: 104,248,285	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,010,547	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,444,173	F243L	probably damaging	Het
Garem1	T	A	18: 21,129,430	I776F	probably benign	Het
Gpr87	T	A	3: 59,179,269	R272*	probably null	Het
Gsdmc	A	T	15: 63,780,116		probably null	Het
Hydin	T	A	8: 110,494,294	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,872,912	C63*	probably null	Het
Kdm4b	A	T	17: 56,399,732	T908S	probably damaging	Het
Lipn	A	G	19: 34,081,300	D304G	probably damaging	Het
Man2a1	T	G	17: 64,675,122	N544K	probably benign	Het
Mapkapk5	G	T	5: 121,538,481	H66N	probably damaging	Het
Mog	G	A	17: 37,012,348	R233*	probably null	Het
Mrps24	A	T	11: 5,707,481		probably benign	Het
Nom1	T	C	5: 29,437,770	L423P	probably damaging	Het
Olfr65	T	A	7: 103,906,961	V174E	probably benign	Het
Pcdha1	T	A	18: 36,931,171	V296E	probably damaging	Het
Pdcd2	T	C	17: 15,526,394	K168E	possibly damaging	Het
Pdcd2	G	T	17: 15,526,395	H167Q	probably damaging	Het
Pla2g12b	T	A	10: 59,403,958	V63D	probably damaging	Het
Pnn	C	T	12: 59,067,831	R56*	probably null	Het
Primpol	T	A	8: 46,593,580	E227V	possibly damaging	Het
Rad54l	A	T	4: 116,110,387	W233R	probably damaging	Het
Rims2	A	T	15: 39,437,182	D103V	probably damaging	Het
Rttn	T	C	18: 89,073,695	S1511P	probably benign	Het
Sept5	T	C	16: 18,624,212		probably null	Het
Simc1	T	A	13: 54,525,819	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,079,693	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,682,036	S55G	possibly damaging	Het
Slit3	C	T	11: 35,700,236	R1292C	probably damaging	Het
Slitrk3	A	G	3: 73,050,713	V242A	probably benign	Het
St14	A	T	9: 31,106,557		probably benign	Het
Tnnt2	T	C	1: 135,843,862		probably benign	Het
Traf5	G	A	1: 192,000,016	T288I	probably benign	Het
Trerf1	C	T	17: 47,314,337		noncoding transcript	Het
Vegfc	A	G	8: 54,181,284	N333D	probably benign	Het
Vmn1r65	T	A	7: 6,008,609	I209F	probably damaging	Het
Vps51	A	G	19: 6,068,290	L725P	probably damaging	Het
Vps8	T	C	16: 21,470,121	I408T	possibly damaging	Het
Wdr72	T	C	9: 74,145,028	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,941,092	E164G	probably damaging	Het
Zcchc14	A	T	8: 121,628,623		probably benign	Het
Zfp383	A	G	7: 29,915,678	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,776,953	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,695,895		probably benign	Het

Other mutations in C5ar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0135:C5ar1	UTSW	7	16248939	missense	probably damaging	1.00
R1338:C5ar1	UTSW	7	16248335	missense	probably damaging	1.00
R1527:C5ar1	UTSW	7	16248193	missense	probably damaging	1.00
R4477:C5ar1	UTSW	7	16248864	missense	probably damaging	1.00
R4812:C5ar1	UTSW	7	16248333	splice site	probably null
R5795:C5ar1	UTSW	7	16248394	missense	possibly damaging	0.73
R6993:C5ar1	UTSW	7	16248912	missense	probably damaging	1.00
R7294:C5ar1	UTSW	7	16249025	missense	probably benign	0.00
R7464:C5ar1	UTSW	7	16248766	missense	probably benign	0.07
R7619:C5ar1	UTSW	7	16248579	missense	probably damaging	1.00
R8520:C5ar1	UTSW	7	16248151	missense	probably damaging	1.00
R8934:C5ar1	UTSW	7	16248477	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCAATGCTAAGACCCAGGC -3'
(R):5'- CCTAACATACCTGCGGATGG -3'

Sequencing Primer
(F):5'- ATCCATGCCAGGCCAGTC -3'
(R):5'- GATGGCATTCACCTCCCGAAG -3'

Posted On

2017-03-31