Mutagenetix > Incidental Mutations

Incidental Mutation 'R1338:C5ar1'

156939

Institutional Source

Beutler Lab

Gene Symbol

C5ar1

Ensembl Gene

ENSMUSG00000049130

Gene Name

complement component 5a receptor 1

Synonyms

C5aR, D7Msu1, Cd88, C5r1

MMRRC Submission

039403-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R1338 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16246743-16259540 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 16248335 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 253 (F253L)

Ref Sequence

ENSEMBL: ENSMUSP00000129972 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000050770
AA Change: F253L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060003
Gene: ENSMUSG00000049130
AA Change: F253L

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

probably damaging
Transcript: ENSMUST00000168818
AA Change: F253L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129972
Gene: ENSMUSG00000049130
AA Change: F253L

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

probably benign
Transcript: ENSMUST00000209442

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 88.5%

Validation Efficiency

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	T	3: 37,052,535	H5005Y	unknown	Het
Akap12	G	T	10: 4,313,773	V61F	possibly damaging	Het
Amph	G	A	13: 19,142,028	V643M	probably damaging	Het
Ap4e1	T	A	2: 127,046,909	D459E	probably damaging	Het
Brdt	C	A	5: 107,350,188	P243Q	probably benign	Het
Cep104	T	G	4: 153,994,508	V323G	probably benign	Het
Col11a1	A	T	3: 114,216,995		probably benign	Het
Fat3	T	A	9: 15,925,091	Y4039F	probably benign	Het
Lmcd1	A	C	6: 112,305,128	H41P	probably damaging	Het
Olfr466	T	C	13: 65,152,383	L53P	probably damaging	Het
P2ry13	T	C	3: 59,210,289	T23A	probably benign	Het
Pcdhb14	A	T	18: 37,449,890	E683V	probably benign	Het
Pck1	G	A	2: 173,158,410	E545K	probably benign	Het
Pkhd1l1	T	C	15: 44,526,724	V1412A	probably damaging	Het
Rnf139	T	C	15: 58,899,215	V363A	probably damaging	Het
Serpinh1	A	G	7: 99,348,911	S171P	probably damaging	Het
Skint6	T	C	4: 113,012,961	K600R	possibly damaging	Het
Slc7a1	C	T	5: 148,345,936	E34K	probably damaging	Het
Spata31d1b	AGGG	AGG	13: 59,718,161		probably null	Het
Stard9	C	A	2: 120,673,636	S221R	probably damaging	Het
Ttc6	A	T	12: 57,616,369	N317I	probably benign	Het
Zan	A	T	5: 137,393,651	C4627*	probably null	Het
Zfhx4	T	C	3: 5,396,961	V1232A	possibly damaging	Het

Other mutations in C5ar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0135:C5ar1	UTSW	7	16248939	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	unclassified	probably null
R5795:C5ar1	UTSW	7	16248394	missense	possibly damaging	0.73
R5963:C5ar1	UTSW	7	16248822	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- GTGAAAGTCTTGCTATCCCTGCCC -3'
(R):5'- AGCTTCCCCAAAGAGAAGGCTGTG -3'

Sequencing Primer
(F):5'- TGAATCCTCAGAGAGAGCGTTTC -3'
(R):5'- GTTGCCTCTGCTCACTCTAA -3'

Posted On

2014-02-11