Mutagenetix > Incidental Mutation

Incidental Mutation 'R7258:Ccr5'

564431

Institutional Source

Beutler Lab

Gene Symbol

Ccr5

Ensembl Gene

ENSMUSG00000079227

Gene Name

C-C motif chemokine receptor 5

Synonyms

CD195, Cmkbr5

MMRRC Submission

045386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R7258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123921557-123934153 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 123925311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 305 (K305*)

Ref Sequence

ENSEMBL: ENSMUSP00000107069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111442] [ENSMUST00000168179] [ENSMUST00000171499]

AlphaFold

P51682

Predicted Effect

probably benign
Transcript: ENSMUST00000097855

Predicted Effect

probably null
Transcript: ENSMUST00000111442
AA Change: K305*

SMART Domains

Protein: ENSMUSP00000107069
Gene: ENSMUSG00000079227
AA Change: K305*

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	43	314	3.8e-6	PFAM
Pfam:7tm_1	49	299	3.6e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168179

Predicted Effect

probably benign
Transcript: ENSMUST00000171499

SMART Domains

Protein: ENSMUSP00000127328
Gene: ENSMUSG00000079227

Domain	Start	End	E-Value	Type
Pfam:7tm_1	49	123	1.1e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

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. This protein is expressed by T cells and macrophages, and is known to be an important co-receptor for macrophage-tropic virus, including HIV, to enter host cells. Defective alleles of this gene have been associated with the HIV infection resistance. The ligands of this receptor include monocyte chemoattractant protein 2 (MCP-2), macrophage inflammatory protein 1 alpha (MIP-1 alpha), macrophage inflammatory protein 1 beta (MIP-1 beta) and regulated on activation normal T expressed and secreted protein (RANTES). Expression of this gene was also detected in a promyeloblastic cell line, suggesting that this protein may play a role in granulocyte lineage proliferation and differentiation. This gene is located at the chemokine receptor gene cluster region. An allelic polymorphism in this gene results in both functional and non-functional alleles; the reference genome represents the functional allele. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice that are homozygous for null alleles have leukocytes with defective migration and adhesion, are more susceptibility to fungal & bacterial infections, have increased length of allograft survival, and have decreased susceptibility to endotoxin shock. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	C	8: 88,312,805 (GRCm39)	S197R	probably damaging	Het
Abcc12	T	C	8: 87,287,486 (GRCm39)	R120G	possibly damaging	Het
Abhd14b	A	G	9: 106,327,418 (GRCm39)	I67V	probably benign	Het
Alpk1	A	T	3: 127,518,115 (GRCm39)	V62E	probably damaging	Het
Ankar	A	G	1: 72,690,886 (GRCm39)	V1196A	probably benign	Het
Cdc42bpb	T	C	12: 111,292,518 (GRCm39)	H339R	probably damaging	Het
Cdhr18	A	T	14: 13,899,648 (GRCm38)	F91L		Het
Cep290	T	G	10: 100,334,970 (GRCm39)	M330R	probably benign	Het
Cyfip2	T	C	11: 46,115,004 (GRCm39)	Y901C	probably benign	Het
Ddx54	T	G	5: 120,758,812 (GRCm39)	Y352D	probably damaging	Het
Defa35	A	T	8: 21,555,245 (GRCm39)	H55L	possibly damaging	Het
Dnmt3b	T	A	2: 153,525,519 (GRCm39)		probably null	Het
Enpep	A	C	3: 129,125,724 (GRCm39)	L136R	probably benign	Het
Epb41l2	G	A	10: 25,360,185 (GRCm39)	A516T	probably damaging	Het
Frmd4a	A	T	2: 4,305,764 (GRCm39)	Q13L	probably benign	Het
Frmpd1	C	A	4: 45,269,974 (GRCm39)	D271E	possibly damaging	Het
Gbp5	T	A	3: 142,212,542 (GRCm39)	L410H	probably damaging	Het
Gipc2	T	C	3: 151,871,352 (GRCm39)	E58G	probably damaging	Het
Gm6309	A	T	5: 146,105,106 (GRCm39)	V269E	probably benign	Het
Grm5	A	T	7: 87,723,914 (GRCm39)	T735S	probably damaging	Het
H6pd	T	C	4: 150,080,819 (GRCm39)	M9V	probably benign	Het
Hmcn1	A	G	1: 150,591,574 (GRCm39)	I1875T	probably benign	Het
Hrc	T	A	7: 44,985,720 (GRCm39)	D290E	possibly damaging	Het
Iftap	T	C	2: 101,440,937 (GRCm39)	D22G	probably null	Het
Ippk	C	A	13: 49,587,338 (GRCm39)	Q136K	probably benign	Het
Kcnv1	T	C	15: 44,972,711 (GRCm39)	T391A	probably damaging	Het
Kdm5b	A	C	1: 134,548,759 (GRCm39)	E1088A	probably damaging	Het
L1td1	C	T	4: 98,625,101 (GRCm39)	A432V	probably benign	Het
Ly86	A	G	13: 37,529,473 (GRCm39)	D20G	probably benign	Het
Myo1g	A	G	11: 6,459,416 (GRCm39)	I818T	possibly damaging	Het
Nms	A	G	1: 38,986,051 (GRCm39)	T121A	probably benign	Het
Or1e31	T	G	11: 73,690,206 (GRCm39)	I126L	probably damaging	Het
Or1j4	T	A	2: 36,740,352 (GRCm39)	I98K	probably damaging	Het
Or51af1	G	C	7: 103,141,796 (GRCm39)	C96W	probably damaging	Het
Or6b3	A	T	1: 92,438,898 (GRCm39)	I284N	possibly damaging	Het
Or6c69	T	A	10: 129,748,156 (GRCm39)		probably benign	Het
Or8k37	T	A	2: 86,469,345 (GRCm39)	K236*	probably null	Het
Pcdhb9	T	C	18: 37,535,167 (GRCm39)	L387P	probably damaging	Het
Pcsk1	G	A	13: 75,241,305 (GRCm39)	R95H	probably damaging	Het
Pde11a	T	C	2: 75,970,250 (GRCm39)	D502G	possibly damaging	Het
Plekhg2	T	C	7: 28,064,203 (GRCm39)	D446G	probably benign	Het
Ptch1	T	C	13: 63,721,108 (GRCm39)	K54E	not run	Het
Rasal2	A	T	1: 156,985,270 (GRCm39)	L826M	probably damaging	Het
Rnf213	A	G	11: 119,343,401 (GRCm39)	I3589V		Het
Sin3b	T	C	8: 73,476,836 (GRCm39)	C757R	probably benign	Het
Slc41a1	T	A	1: 131,769,780 (GRCm39)	V300D	probably benign	Het
Snorc	A	C	1: 87,402,789 (GRCm39)	I40L	probably benign	Het
Snrpa1	T	C	7: 65,719,891 (GRCm39)	F162L	probably damaging	Het
Sox30	C	A	11: 45,871,379 (GRCm39)	A78E	unknown	Het
Ssc4d	G	T	5: 135,991,941 (GRCm39)	A401E	probably damaging	Het
Steap3	A	G	1: 120,171,716 (GRCm39)	F130L	possibly damaging	Het
Stx5a	A	G	19: 8,732,271 (GRCm39)		probably null	Het
Tgfbr2	A	T	9: 115,958,898 (GRCm39)	I172N	probably damaging	Het
Tgm4	A	G	9: 122,891,556 (GRCm39)	D557G	probably benign	Het
Tmprss11c	A	G	5: 86,419,272 (GRCm39)	S96P	probably damaging	Het
Trpa1	T	G	1: 14,973,473 (GRCm39)	T282P	probably damaging	Het
Uba5	A	T	9: 103,940,132 (GRCm39)	V5E	unknown	Het
Ugt2b36	A	T	5: 87,228,762 (GRCm39)	L427H	probably damaging	Het
Utp14b	T	A	1: 78,642,691 (GRCm39)	H196Q	probably benign	Het
Vmn2r44	T	A	7: 8,380,848 (GRCm39)	L348F	probably damaging	Het
Vmn2r93	T	G	17: 18,525,403 (GRCm39)	L354V	probably benign	Het
Wwc2	T	A	8: 48,296,034 (GRCm39)	N1079Y	unknown	Het
Zfp653	T	C	9: 21,977,116 (GRCm39)	D145G	probably benign	Het
Zfp777	T	C	6: 48,002,731 (GRCm39)	E453G	probably damaging	Het
Zfp936	T	A	7: 42,839,803 (GRCm39)	H423Q	probably damaging	Het
Zfyve9	A	T	4: 108,514,151 (GRCm39)	Y496N	possibly damaging	Het

Other mutations in Ccr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Ccr5	APN	9	123,924,443 (GRCm39)	missense	possibly damaging	0.59
IGL00551:Ccr5	APN	9	123,924,625 (GRCm39)	missense	probably damaging	1.00
IGL01153:Ccr5	APN	9	123,924,649 (GRCm39)	missense	probably damaging	1.00
R0014:Ccr5	UTSW	9	123,924,658 (GRCm39)	missense	probably damaging	1.00
R0014:Ccr5	UTSW	9	123,924,658 (GRCm39)	missense	probably damaging	1.00
R0355:Ccr5	UTSW	9	123,924,951 (GRCm39)	missense	possibly damaging	0.90
R1570:Ccr5	UTSW	9	123,925,000 (GRCm39)	missense	probably benign	0.29
R4305:Ccr5	UTSW	9	123,925,111 (GRCm39)	missense	possibly damaging	0.78
R4307:Ccr5	UTSW	9	123,925,111 (GRCm39)	missense	possibly damaging	0.78
R4570:Ccr5	UTSW	9	123,924,912 (GRCm39)	nonsense	probably null
R4589:Ccr5	UTSW	9	123,924,539 (GRCm39)	missense	probably benign	0.00
R5549:Ccr5	UTSW	9	123,925,408 (GRCm39)	missense	probably benign	0.09
R5566:Ccr5	UTSW	9	123,924,697 (GRCm39)	missense	probably benign	0.07
R5871:Ccr5	UTSW	9	123,924,558 (GRCm39)	missense	probably benign	0.02
R6568:Ccr5	UTSW	9	123,925,236 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTGTGAGGCTCATCTTTGC -3'
(R):5'- CCTACTCCCAAGCTGCATAG -3'

Sequencing Primer
(F):5'- GCTCATCTTTGCCATCATGATTG -3'
(R):5'- GCTGCATAGAAAAACTACGTGATAC -3'

Posted On

2019-06-26