Mutagenetix > Incidental Mutation

Incidental Mutation 'R5369:Ccr1'

429554

Institutional Source

Beutler Lab

Gene Symbol

Ccr1

Ensembl Gene

ENSMUSG00000025804

Gene Name

C-C motif chemokine receptor 1

Synonyms

Cmkbr1

MMRRC Submission

042946-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R5369 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123762163-123768729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123764326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 68 (M68K)

Ref Sequence

ENSEMBL: ENSMUSP00000026911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026911]

AlphaFold

P51675

Predicted Effect

probably damaging
Transcript: ENSMUST00000026911
AA Change: M68K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026911
Gene: ENSMUSG00000025804
AA Change: M68K

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	45	316	5.1e-8	PFAM
Pfam:7tm_1	51	301	8.5e-52	PFAM

Meta Mutation Damage Score

0.8747

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The ligands of this receptor include macrophage inflammatory protein 1 alpha (MIP-1 alpha), regulated on activation normal T expressed and secreted protein (RANTES), monocyte chemoattractant protein 3 (MCP-3), and myeloid progenitor inhibitory factor-1 (MPIF-1). Chemokines and their receptors mediated signal transduction are critical for the recruitment of effector immune cells to the site of inflammation. Knockout studies of the mouse homolog suggested the roles of this gene in host protection from inflammatory response, and susceptibility to virus and parasite. This gene and other chemokine receptor genes, including CCR2, CCRL2, CCR3, CCR5 and CCXCR1, are found to form a gene cluster on chromosome 3p. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered trafficking and proliferation of myeloid progenitor cells, and impairments in granulomatous inflammation of the lung and neutrophil associated host defense. [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
A2ml1	T	C	6: 128,545,796 (GRCm39)	T444A	probably damaging	Het
A330070K13Rik	G	A	5: 130,407,932 (GRCm39)		probably benign	Het
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Acbd5	T	A	2: 23,002,522 (GRCm39)	L508Q	probably damaging	Het
Asb15	T	C	6: 24,562,563 (GRCm39)	V175A	probably benign	Het
B3galnt2	T	C	13: 14,169,010 (GRCm39)		probably null	Het
BC024139	A	C	15: 76,004,422 (GRCm39)	S711R	probably benign	Het
Bod1l	A	G	5: 41,984,526 (GRCm39)	I508T	probably damaging	Het
Btnl6	T	A	17: 34,726,959 (GRCm39)	R524*	probably null	Het
C3	C	A	17: 57,528,159 (GRCm39)	D687Y	probably benign	Het
Ccbe1	G	A	18: 66,194,485 (GRCm39)	A367V	probably benign	Het
Cd27	T	A	6: 125,211,327 (GRCm39)		probably benign	Het
Celf2	C	A	2: 7,085,892 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,897,119 (GRCm39)		probably benign	Het
Cfap97	A	G	8: 46,622,687 (GRCm39)	K26E	probably damaging	Het
Clcn4	T	A	7: 7,299,032 (GRCm39)	I48F	probably benign	Het
Cnot7	A	T	8: 40,947,061 (GRCm39)	N238K	probably benign	Het
Colec12	A	G	18: 9,866,750 (GRCm39)	I654V	unknown	Het
Dip2a	A	G	10: 76,128,194 (GRCm39)	I22T	probably damaging	Het
Eif4g3	C	T	4: 137,910,645 (GRCm39)	T1375M	possibly damaging	Het
Eml5	C	T	12: 98,825,042 (GRCm39)	G725D	probably damaging	Het
F12	T	C	13: 55,566,304 (GRCm39)	E496G	probably benign	Het
Fam227a	A	T	15: 79,499,637 (GRCm39)	S573T	probably benign	Het
Fnip1	T	C	11: 54,393,415 (GRCm39)	V593A	probably benign	Het
Focad	T	A	4: 88,039,610 (GRCm39)		probably benign	Het
Frem1	A	G	4: 82,919,976 (GRCm39)	I460T	possibly damaging	Het
Galnt10	T	G	11: 57,656,573 (GRCm39)		probably null	Het
Gm5592	A	T	7: 40,867,635 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,037,330 (GRCm39)		noncoding transcript	Het
Gm7935	A	T	15: 73,952,963 (GRCm39)		noncoding transcript	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Gstm5	G	A	3: 107,805,782 (GRCm39)	A198T	probably damaging	Het
Herc2	T	A	7: 55,832,448 (GRCm39)	V3048D	probably damaging	Het
Htra4	T	G	8: 25,523,585 (GRCm39)	I327L	possibly damaging	Het
Ifi209	T	C	1: 173,464,873 (GRCm39)	M1T	probably null	Het
Ints6	T	C	14: 62,981,384 (GRCm39)	T135A	probably damaging	Het
Itpr1	T	A	6: 108,496,385 (GRCm39)	I2604N	probably damaging	Het
Krt6a	T	A	15: 101,600,993 (GRCm39)	M268L	probably benign	Het
Lrp1b	G	T	2: 40,894,625 (GRCm39)	S2201*	probably null	Het
Lrp2	T	C	2: 69,289,904 (GRCm39)	N3645S	probably benign	Het
Lrrc15	A	T	16: 30,091,722 (GRCm39)	I539N	possibly damaging	Het
Map3k6	T	C	4: 132,974,992 (GRCm39)	I675T	probably damaging	Het
Map3k9	T	A	12: 81,768,826 (GRCm39)	E1074V	probably damaging	Het
Med13l	T	A	5: 118,862,075 (GRCm39)	S339R	probably benign	Het
Mrps18a	T	C	17: 46,436,552 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,882,654 (GRCm39)	E466G	probably damaging	Het
Nat8f2	G	T	6: 85,844,854 (GRCm39)	Y169*	probably null	Het
Nlrp1b	A	G	11: 71,072,625 (GRCm39)	I406T	probably benign	Het
Npc1l1	A	G	11: 6,167,705 (GRCm39)		probably null	Het
Or10z1	A	G	1: 174,078,007 (GRCm39)	V162A	probably damaging	Het
Or5ac20	A	T	16: 59,104,743 (GRCm39)	M39K	probably damaging	Het
Ostf1	C	T	19: 18,558,689 (GRCm39)	G198E	probably benign	Het
Pcsk5	A	G	19: 17,558,619 (GRCm39)	V596A	probably damaging	Het
Pde4c	T	C	8: 71,202,754 (GRCm39)	*647Q	probably null	Het
Pkm	A	T	9: 59,577,917 (GRCm39)	I245F	probably damaging	Het
Prss3b	T	A	6: 41,009,940 (GRCm39)	R131S	probably benign	Het
Ptprj	T	C	2: 90,299,985 (GRCm39)	H179R	probably benign	Het
Rapgef2	A	T	3: 78,976,739 (GRCm39)	S1356T	probably benign	Het
Rbm45	T	A	2: 76,200,594 (GRCm39)	L41Q	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scel	A	T	14: 103,823,929 (GRCm39)	I386F	probably benign	Het
Serpinb5	A	T	1: 106,809,487 (GRCm39)	N298Y	possibly damaging	Het
Sirt3	A	T	7: 140,449,406 (GRCm39)	L180Q	probably damaging	Het
Slc24a2	C	T	4: 86,909,625 (GRCm39)	V698I	probably damaging	Het
Slc43a3	A	T	2: 84,788,067 (GRCm39)	H483L	probably damaging	Het
Snrnp35	A	G	5: 124,628,262 (GRCm39)	D25G	probably benign	Het
Snrnp40	T	C	4: 130,256,439 (GRCm39)	S55P	probably damaging	Het
Snx9	T	A	17: 5,970,855 (GRCm39)	C399S	probably damaging	Het
Ttbk2	T	C	2: 120,655,743 (GRCm39)		probably benign	Het
Vmn1r1	A	G	1: 181,985,341 (GRCm39)	V108A	possibly damaging	Het
Vmn1r201	T	A	13: 22,659,672 (GRCm39)	N295K	probably benign	Het
Zfp292	G	A	4: 34,807,491 (GRCm39)	P1851L	possibly damaging	Het
Zfp472	A	T	17: 33,196,717 (GRCm39)	D264V	probably damaging	Het

Other mutations in Ccr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Ccr1	APN	9	123,764,090 (GRCm39)	missense	probably benign	0.22
IGL00550:Ccr1	APN	9	123,763,673 (GRCm39)	missense	probably damaging	1.00
IGL00934:Ccr1	APN	9	123,763,777 (GRCm39)	missense	probably damaging	0.98
IGL01795:Ccr1	APN	9	123,764,149 (GRCm39)	nonsense	probably null
IGL02447:Ccr1	APN	9	123,763,753 (GRCm39)	missense	probably benign	0.01
PIT4431001:Ccr1	UTSW	9	123,764,231 (GRCm39)	missense	probably benign
PIT4466001:Ccr1	UTSW	9	123,763,765 (GRCm39)	missense	probably damaging	0.99
PIT4472001:Ccr1	UTSW	9	123,763,765 (GRCm39)	missense	probably damaging	0.99
R0900:Ccr1	UTSW	9	123,764,371 (GRCm39)	missense	possibly damaging	0.50
R0931:Ccr1	UTSW	9	123,763,827 (GRCm39)	missense	probably damaging	1.00
R1165:Ccr1	UTSW	9	123,763,531 (GRCm39)	missense	possibly damaging	0.51
R1386:Ccr1	UTSW	9	123,763,999 (GRCm39)	missense	probably benign	0.05
R1513:Ccr1	UTSW	9	123,764,510 (GRCm39)	missense	probably benign	0.00
R1615:Ccr1	UTSW	9	123,763,573 (GRCm39)	missense	probably benign	0.00
R1833:Ccr1	UTSW	9	123,764,126 (GRCm39)	missense	probably damaging	1.00
R1996:Ccr1	UTSW	9	123,763,551 (GRCm39)	missense	probably benign	0.41
R3833:Ccr1	UTSW	9	123,764,324 (GRCm39)	missense	possibly damaging	0.74
R4085:Ccr1	UTSW	9	123,763,987 (GRCm39)	missense	probably benign
R4545:Ccr1	UTSW	9	123,764,437 (GRCm39)	missense	probably benign	0.11
R4745:Ccr1	UTSW	9	123,763,985 (GRCm39)	missense	probably benign	0.05
R5415:Ccr1	UTSW	9	123,764,413 (GRCm39)	missense	probably damaging	1.00
R5416:Ccr1	UTSW	9	123,764,413 (GRCm39)	missense	probably damaging	1.00
R6446:Ccr1	UTSW	9	123,764,143 (GRCm39)	missense	probably damaging	0.99
R7179:Ccr1	UTSW	9	123,764,089 (GRCm39)	missense	probably damaging	1.00
R7423:Ccr1	UTSW	9	123,764,422 (GRCm39)	missense	probably damaging	1.00
R8087:Ccr1	UTSW	9	123,764,371 (GRCm39)	missense	probably benign	0.00
R8258:Ccr1	UTSW	9	123,764,119 (GRCm39)	missense	probably damaging	1.00
R8259:Ccr1	UTSW	9	123,764,119 (GRCm39)	missense	probably damaging	1.00
R8339:Ccr1	UTSW	9	123,763,763 (GRCm39)	missense	probably damaging	1.00
R8729:Ccr1	UTSW	9	123,763,831 (GRCm39)	missense	probably benign	0.44
R8870:Ccr1	UTSW	9	123,764,022 (GRCm39)	missense	probably benign	0.00
R8936:Ccr1	UTSW	9	123,763,882 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGGACAATGGCCAGGTATCTG -3'
(R):5'- TCAGATTTCACAGAAGCCTACC -3'

Sequencing Primer
(F):5'- CAATGGCCAGGTATCTGTCAATCG -3'
(R):5'- CCCACAACTACAGAATTTGACTATGG -3'

Posted On

2016-09-06