Mutagenetix > Incidental Mutation

Incidental Mutation 'R5416:Ccr1'

427740

Institutional Source

Beutler Lab

Gene Symbol

Ccr1

Ensembl Gene

ENSMUSG00000025804

Gene Name

C-C motif chemokine receptor 1

Synonyms

Cmkbr1

MMRRC Submission

042985-MU

Accession Numbers

Essential gene?

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

Stock #

R5416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123762163-123768729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 123764413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 39 (P39H)

Ref Sequence

ENSEMBL: ENSMUSP00000026911 (fasta)

Gene Model

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

AlphaFold

P51675

Predicted Effect

probably damaging
Transcript: ENSMUST00000026911
AA Change: P39H

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

SMART Domains

Protein: ENSMUSP00000026911
Gene: ENSMUSG00000025804
AA Change: P39H

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,871,331 (GRCm39)	E689D	probably damaging	Het
Acsl6	A	G	11: 54,227,997 (GRCm39)	E339G	probably benign	Het
Adcy3	G	A	12: 4,259,308 (GRCm39)	E861K	probably damaging	Het
Adrm1	C	T	2: 179,817,930 (GRCm39)	T394I	probably benign	Het
Adsl	T	A	15: 80,836,384 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,551 (GRCm39)	C1854S	probably damaging	Het
C87436	A	G	6: 86,442,832 (GRCm39)	Y458C	probably damaging	Het
Cacna1e	T	C	1: 154,341,525 (GRCm39)	D1161G	probably damaging	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Cdh18	A	G	15: 23,226,809 (GRCm39)	Y90C	probably damaging	Het
Chadl	T	C	15: 81,578,100 (GRCm39)	R510G	probably benign	Het
Clcnkb	T	C	4: 141,141,211 (GRCm39)	T115A	probably benign	Het
Clptm1	C	A	7: 19,367,741 (GRCm39)		probably benign	Het
Col24a1	A	T	3: 145,020,786 (GRCm39)	R386*	probably null	Het
Ctsj	G	T	13: 61,152,337 (GRCm39)	L10M	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dhx40	T	C	11: 86,688,517 (GRCm39)	D302G	probably benign	Het
Edrf1	T	C	7: 133,243,131 (GRCm39)	F166L	possibly damaging	Het
Epha1	A	T	6: 42,342,805 (GRCm39)	M248K	probably damaging	Het
Evpl	C	A	11: 116,125,085 (GRCm39)	V126L	probably benign	Het
Fam83d	T	C	2: 158,627,552 (GRCm39)	C414R	possibly damaging	Het
Fat2	T	C	11: 55,194,514 (GRCm39)	N1175S	possibly damaging	Het
Fhad1	G	A	4: 141,646,113 (GRCm39)	T283I	probably benign	Het
Fuca1	A	G	4: 135,650,291 (GRCm39)	T121A	probably damaging	Het
Gm13941	A	T	2: 110,925,079 (GRCm39)	S175T	unknown	Het
Gpr107	T	A	2: 31,075,560 (GRCm39)	I357N	probably damaging	Het
Gpr161	T	A	1: 165,149,030 (GRCm39)	H466Q	probably benign	Het
Hsd3b5	A	G	3: 98,526,466 (GRCm39)	F327L	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Itgb7	A	T	15: 102,125,744 (GRCm39)	D628E	probably benign	Het
Nwd1	A	G	8: 73,393,322 (GRCm39)	D236G	possibly damaging	Het
Or56b2j	C	T	7: 104,352,923 (GRCm39)	L50F	probably benign	Het
Or6d14	A	T	6: 116,534,166 (GRCm39)	Y260F	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb8	A	G	18: 37,490,008 (GRCm39)	Y562C	probably damaging	Het
Phkg2	A	G	7: 127,182,107 (GRCm39)	H376R	possibly damaging	Het
Plxnc1	G	A	10: 94,673,416 (GRCm39)	T1018I	probably damaging	Het
Ppp6r1	A	T	7: 4,642,747 (GRCm39)	D532E	possibly damaging	Het
Prkdc	T	C	16: 15,623,814 (GRCm39)	L3259P	probably damaging	Het
Prkg2	A	T	5: 99,091,326 (GRCm39)	D641E	probably benign	Het
Psg26	T	C	7: 18,216,525 (GRCm39)	T105A	probably benign	Het
Ptprs	T	C	17: 56,742,724 (GRCm39)	T473A	probably damaging	Het
Pwp2	G	T	10: 78,018,835 (GRCm39)	N57K	probably damaging	Het
Rnf216	G	T	5: 143,001,526 (GRCm39)	C733*	probably null	Het
Serpina1f	T	A	12: 103,660,203 (GRCm39)	K26N	possibly damaging	Het
Sez6l2	T	A	7: 126,561,058 (GRCm39)	C448S	probably damaging	Het
Slc28a3	A	T	13: 58,724,607 (GRCm39)	L216M	probably damaging	Het
Sorbs1	A	G	19: 40,365,433 (GRCm39)	S117P	probably benign	Het
Sorl1	A	T	9: 41,913,932 (GRCm39)	C1332*	probably null	Het
Specc1	T	C	11: 62,009,735 (GRCm39)	V497A	probably benign	Het
Tmem204	T	C	17: 25,277,300 (GRCm39)	E195G	probably damaging	Het
Tnfrsf13b	T	C	11: 61,037,849 (GRCm39)		probably null	Het
Ttll5	G	A	12: 86,059,602 (GRCm39)	V1250M	possibly damaging	Het
Ube4a	G	A	9: 44,852,476 (GRCm39)	T681I	probably damaging	Het
Ubqln3	C	T	7: 103,790,879 (GRCm39)	V404I	probably benign	Het
Yeats2	T	C	16: 20,030,319 (GRCm39)	S919P	probably benign	Het
Zfp575	C	T	7: 24,286,147 (GRCm39)	G3D	probably benign	Het
Zfp644	C	T	5: 106,766,294 (GRCm39)		silent	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
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
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'- GAGAGAAGCTTGCACATGGC -3'
(R):5'- CCCAGGACTCACTGTCTTTAAC -3'

Sequencing Primer
(F):5'- AATCCAGTCGTCTTTCAACTTGTAG -3'
(R):5'- TTCCTCAGCAAAGGATGG -3'

Posted On

2016-09-01