Mutagenetix > Incidental Mutation

Incidental Mutation 'R1615:Ccr1'

177059

Institutional Source

Beutler Lab

Gene Symbol

Ccr1

Ensembl Gene

ENSMUSG00000025804

Gene Name

C-C motif chemokine receptor 1

Synonyms

Cmkbr1

MMRRC Submission

039652-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1615 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123762163-123768729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123763573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 319 (H319R)

Ref Sequence

ENSEMBL: ENSMUSP00000026911 (fasta)

Gene Model

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

AlphaFold

P51675

Predicted Effect

probably benign
Transcript: ENSMUST00000026911
AA Change: H319R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000026911
Gene: ENSMUSG00000025804
AA Change: H319R

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

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 88.8%

Validation Efficiency

98% (64/65)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,743,625 (GRCm39)	C328S	probably benign	Het
Adgrv1	G	T	13: 81,572,407 (GRCm39)	T4918K	probably benign	Het
Aen	T	C	7: 78,555,660 (GRCm39)	Y108H	probably damaging	Het
Amer3	T	C	1: 34,627,252 (GRCm39)	M497T	probably damaging	Het
Arid2	C	T	15: 96,269,535 (GRCm39)	T1216M	possibly damaging	Het
Birc6	A	G	17: 74,916,404 (GRCm39)		probably null	Het
Bzw2	A	G	12: 36,169,126 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,014,457 (GRCm39)	I2010T	probably damaging	Het
Dnhd1	A	G	7: 105,352,413 (GRCm39)	Y2522C	probably benign	Het
Dnhd1	T	A	7: 105,362,913 (GRCm39)	I3825K	possibly damaging	Het
Dst	A	T	1: 34,238,452 (GRCm39)	D3718V	probably damaging	Het
Esp36	A	G	17: 38,730,330 (GRCm39)		probably benign	Het
Fbxw21	T	C	9: 108,972,794 (GRCm39)	Y380C	probably damaging	Het
Fhad1	G	A	4: 141,649,634 (GRCm39)	T836M	probably damaging	Het
Fhod1	C	T	8: 106,074,463 (GRCm39)		probably benign	Het
Flt1	A	G	5: 147,576,098 (GRCm39)	C637R	probably damaging	Het
Fmnl2	A	G	2: 53,008,436 (GRCm39)	K809E	probably damaging	Het
Grm1	G	T	10: 10,617,252 (GRCm39)	Y510*	probably null	Het
Hey1	A	T	3: 8,729,898 (GRCm39)	H186Q	possibly damaging	Het
Insyn1	C	T	9: 58,406,351 (GRCm39)	A87V	probably damaging	Het
Itga2b	C	T	11: 102,350,963 (GRCm39)		probably null	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Lmcd1	A	G	6: 112,250,911 (GRCm39)	D7G	probably benign	Het
Lrrc1	T	C	9: 77,342,400 (GRCm39)	D358G	possibly damaging	Het
Lyn	A	G	4: 3,748,765 (GRCm39)	K248E	probably benign	Het
Map4k4	A	G	1: 40,045,990 (GRCm39)		probably benign	Het
Map4k5	A	T	12: 69,891,187 (GRCm39)	L160H	probably damaging	Het
Mtcl2	T	G	2: 156,862,663 (GRCm39)	H1422P	probably damaging	Het
Myo6	C	T	9: 80,215,007 (GRCm39)	R1247C	probably damaging	Het
Myo9a	A	G	9: 59,695,739 (GRCm39)	E347G	possibly damaging	Het
Ndfip1	C	T	18: 38,593,672 (GRCm39)	P213S	probably benign	Het
Neurl3	T	C	1: 36,308,470 (GRCm39)	E114G	possibly damaging	Het
Nlrp14	A	T	7: 106,795,370 (GRCm39)	I877F	probably benign	Het
Obscn	A	G	11: 58,990,651 (GRCm39)	S1733P	probably benign	Het
Oxgr1	A	T	14: 120,260,185 (GRCm39)	S7R	probably benign	Het
Plcb1	A	T	2: 135,204,364 (GRCm39)		probably benign	Het
Prkag2	G	T	5: 25,080,176 (GRCm39)	N120K	possibly damaging	Het
Rnf43	C	T	11: 87,622,485 (GRCm39)	R529*	probably null	Het
Saraf	A	G	8: 34,632,442 (GRCm39)	K174E	possibly damaging	Het
Scrib	T	C	15: 75,938,054 (GRCm39)	Q264R	probably benign	Het
Sh3rf3	T	A	10: 58,966,899 (GRCm39)	M747K	probably benign	Het
Shf	T	C	2: 122,179,913 (GRCm39)	H421R	probably damaging	Het
Slc35g3	A	G	11: 69,651,368 (GRCm39)	S228P	probably damaging	Het
Slit1	A	G	19: 41,639,110 (GRCm39)		probably benign	Het
Srrm4	A	G	5: 116,585,359 (GRCm39)		probably benign	Het
Stfa1	T	G	16: 36,100,829 (GRCm39)	V23G	probably damaging	Het
Swap70	A	G	7: 109,872,498 (GRCm39)	D371G	probably benign	Het
Tada2a	T	C	11: 83,993,926 (GRCm39)	D186G	probably damaging	Het
Tdpoz3	C	A	3: 93,733,618 (GRCm39)	Q98K	probably benign	Het
Tgfbrap1	A	G	1: 43,091,145 (GRCm39)	V660A	probably benign	Het
Tnn	A	G	1: 159,945,978 (GRCm39)	Y947H	possibly damaging	Het
Trim60	A	T	8: 65,453,162 (GRCm39)	C362*	probably null	Het
Vmn1r81	T	A	7: 11,994,441 (GRCm39)	N56Y	probably damaging	Het
Vsig8	A	G	1: 172,387,280 (GRCm39)	D52G	probably damaging	Het
Wdfy4	G	A	14: 32,764,469 (GRCm39)	R2140C	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
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
R5369:Ccr1	UTSW	9	123,764,326 (GRCm39)	missense	probably damaging	0.98
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'- GGCCCATGCCACTCATTGTCAC -3'
(R):5'- CATTTCCCCTACAAGAGCCTGAAGC -3'

Sequencing Primer
(F):5'- GGAATCCTGACTGTAAGAACTGTC -3'
(R):5'- ATCTGCTATGCAGGGATCATCAG -3'

Posted On

2014-04-24