Mutagenetix > Incidental Mutation

Incidental Mutation 'R0602:Ccr2'

55496

Institutional Source

Beutler Lab

Gene Symbol

Ccr2

Ensembl Gene

ENSMUSG00000049103

Gene Name

C-C motif chemokine receptor 2

Synonyms

CKR2B, CC-CKR-2, Cmkbr2, CCR2A, CCR2B, CKR2, CKR2A

MMRRC Submission

038791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0602 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123901987-123913594 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123906658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 313 (I313V)

Ref Sequence

ENSEMBL: ENSMUSP00000130112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055918] [ENSMUST00000165984] [ENSMUST00000168841] [ENSMUST00000171719]

AlphaFold

P51683

Predicted Effect

probably benign
Transcript: ENSMUST00000055918
AA Change: I313V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000049909
Gene: ENSMUSG00000049103
AA Change: I313V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	66	332	4.8e-8	PFAM
Pfam:7tm_1	72	318	1.5e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165984
AA Change: I313V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000128734
Gene: ENSMUSG00000049103
AA Change: I313V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	66	332	4.8e-8	PFAM
Pfam:7tm_1	72	318	2.9e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168841
AA Change: I313V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000132453
Gene: ENSMUSG00000049103
AA Change: I313V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	66	332	4.8e-8	PFAM
Pfam:7tm_1	72	318	2.9e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171719
AA Change: I313V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000130112
Gene: ENSMUSG00000049103
AA Change: I313V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	66	332	4.8e-8	PFAM
Pfam:7tm_1	72	318	2.9e-59	PFAM

Meta Mutation Damage Score

0.1593

Coding Region Coverage

1x: 99.6%
3x: 99.1%
10x: 97.5%
20x: 94.7%

Validation Efficiency

95% (58/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes two isoforms of a receptor for monocyte chemoattractant protein-1, a chemokine which specifically mediates monocyte chemotaxis. Monocyte chemoattractant protein-1 is involved in monocyte infiltration in inflammatory diseases such as rheumatoid arthritis as well as in the inflammatory response against tumors. The receptors encoded by this gene mediate agonist-dependent calcium mobilization and inhibition of adenylyl cyclase. This gene is located in the chemokine receptor gene cluster region. Two alternatively spliced transcript variants are expressed by the gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in leukocyte physiology that result in altered response to myocardial infarction and increased susceptibility to bacterial infection and colitis. Mice may also exhibit retinal degeneration and alcohol aversion depending on the knock-out allele. [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
9430038I01Rik	T	C	7: 136,978,090 (GRCm39)		probably benign	Het
Arih1	A	G	9: 59,302,154 (GRCm39)		probably benign	Het
Bcl9	T	C	3: 97,113,102 (GRCm39)	I1118V	probably benign	Het
Cap1	T	C	4: 122,766,202 (GRCm39)	E12G	probably damaging	Het
Ccdc168	T	A	1: 44,099,127 (GRCm39)	K657I	possibly damaging	Het
Cd1d2	T	C	3: 86,895,110 (GRCm39)	S161P	probably benign	Het
Cd226	C	T	18: 89,287,135 (GRCm39)	T311I	probably benign	Het
Col25a1	A	G	3: 130,369,063 (GRCm39)		probably null	Het
Cspg4	T	C	9: 56,795,301 (GRCm39)	F1012S	probably damaging	Het
Dnah7b	A	G	1: 46,364,002 (GRCm39)	M3541V	probably damaging	Het
Erbb2	G	A	11: 98,325,097 (GRCm39)	V852M	probably damaging	Het
Fer1l6	A	C	15: 58,449,794 (GRCm39)	T667P	probably damaging	Het
Gal3st2c	A	G	1: 93,936,901 (GRCm39)	Y282C	probably damaging	Het
Glp1r	T	C	17: 31,128,201 (GRCm39)	L60P	probably benign	Het
Gtf2h2	A	G	13: 100,605,533 (GRCm39)	V358A	probably benign	Het
H2ac18	T	C	3: 96,152,866 (GRCm39)		probably benign	Het
Hephl1	T	A	9: 15,000,347 (GRCm39)	I302F	probably damaging	Het
Lgi2	T	C	5: 52,711,765 (GRCm39)	D185G	probably damaging	Het
Lrtm1	T	C	14: 28,744,179 (GRCm39)		probably benign	Het
Megf10	T	G	18: 57,395,172 (GRCm39)	D511E	probably damaging	Het
Myo5c	A	G	9: 75,173,478 (GRCm39)		probably null	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Nrm	C	A	17: 36,175,156 (GRCm39)	Y61*	probably null	Het
Ola1	A	G	2: 72,924,056 (GRCm39)	Y368H	probably damaging	Het
Or52s1	A	C	7: 102,861,787 (GRCm39)	H229P	possibly damaging	Het
Or9i1b	A	G	19: 13,897,145 (GRCm39)	T254A	probably benign	Het
Or9q2	T	C	19: 13,772,026 (GRCm39)		probably null	Het
Panx1	A	G	9: 14,921,500 (GRCm39)	L125P	probably damaging	Het
Pappa2	A	G	1: 158,590,625 (GRCm39)		probably benign	Het
Parp6	A	G	9: 59,556,648 (GRCm39)		probably benign	Het
Pomgnt2	A	G	9: 121,811,339 (GRCm39)	Y481H	probably benign	Het
Ppp4c	A	G	7: 126,388,254 (GRCm39)		probably benign	Het
Prl8a8	T	A	13: 27,692,533 (GRCm39)		probably benign	Het
Prpf40b	C	A	15: 99,202,352 (GRCm39)	A70E	unknown	Het
Ptgfr	G	A	3: 151,540,839 (GRCm39)	T223M	probably damaging	Het
Ptprc	C	T	1: 138,017,223 (GRCm39)		probably benign	Het
Rgs22	T	C	15: 36,140,018 (GRCm39)		probably benign	Het
Rpgrip1	A	G	14: 52,371,313 (GRCm39)	E344G	possibly damaging	Het
Sgca	A	T	11: 94,854,061 (GRCm39)	I383N	possibly damaging	Het
Sgms2	T	A	3: 131,118,756 (GRCm39)		probably null	Het
Slc9b1	C	A	3: 135,103,516 (GRCm39)	Q549K	probably benign	Het
Smc4	G	C	3: 68,916,871 (GRCm39)	A187P	probably damaging	Het
Smco1	A	G	16: 32,092,062 (GRCm39)	S47G	probably damaging	Het
Sobp	T	A	10: 42,898,385 (GRCm39)	E400V	probably damaging	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Stil	T	A	4: 114,881,620 (GRCm39)		probably benign	Het
Sult3a2	A	T	10: 33,658,044 (GRCm39)	M23K	probably benign	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tcof1	C	A	18: 60,966,605 (GRCm39)	G329W	probably damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Vmn1r171	G	T	7: 23,332,602 (GRCm39)	V276L	probably benign	Het
Vps13b	T	C	15: 35,422,514 (GRCm39)	L158P	probably damaging	Het
Vps54	A	G	11: 21,256,434 (GRCm39)	I634M	possibly damaging	Het
Vwa8	T	G	14: 79,258,060 (GRCm39)	S736R	probably benign	Het

Other mutations in Ccr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01816:Ccr2	APN	9	123,906,235 (GRCm39)	missense	probably benign
IGL02678:Ccr2	APN	9	123,906,783 (GRCm39)	missense	probably benign	0.00
IGL02962:Ccr2	APN	9	123,905,712 (GRCm39)	splice site	probably benign
IGL03330:Ccr2	APN	9	123,905,996 (GRCm39)	missense	probably damaging	1.00
IGL03381:Ccr2	APN	9	123,906,409 (GRCm39)	missense	probably benign	0.22
R0499:Ccr2	UTSW	9	123,906,163 (GRCm39)	missense	possibly damaging	0.77
R0499:Ccr2	UTSW	9	123,905,976 (GRCm39)	missense	possibly damaging	0.55
R0714:Ccr2	UTSW	9	123,905,966 (GRCm39)	missense	probably benign
R1975:Ccr2	UTSW	9	123,906,830 (GRCm39)	missense	probably benign	0.05
R4785:Ccr2	UTSW	9	123,906,409 (GRCm39)	missense	probably benign	0.22
R5858:Ccr2	UTSW	9	123,906,464 (GRCm39)	missense	probably benign	0.45
R5901:Ccr2	UTSW	9	123,906,239 (GRCm39)	missense	possibly damaging	0.50
R6179:Ccr2	UTSW	9	123,906,008 (GRCm39)	missense	probably damaging	1.00
R6933:Ccr2	UTSW	9	123,906,161 (GRCm39)	missense	probably damaging	1.00
R7353:Ccr2	UTSW	9	123,906,793 (GRCm39)	missense	probably damaging	1.00
R7515:Ccr2	UTSW	9	123,906,197 (GRCm39)	missense	probably damaging	1.00
R7575:Ccr2	UTSW	9	123,905,843 (GRCm39)	missense	probably benign
R8743:Ccr2	UTSW	9	123,906,131 (GRCm39)	missense	probably damaging	0.99
R8746:Ccr2	UTSW	9	123,906,448 (GRCm39)	missense	probably benign	0.00
R9215:Ccr2	UTSW	9	123,906,023 (GRCm39)	missense	probably damaging	1.00
R9558:Ccr2	UTSW	9	123,906,104 (GRCm39)	missense	possibly damaging	0.55
R9682:Ccr2	UTSW	9	123,906,176 (GRCm39)	missense	probably damaging	0.99
X0026:Ccr2	UTSW	9	123,905,943 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACCCTGTTTCGCTGTAGGAATGAG -3'
(R):5'- ACGTTCTGGGCACCTGATTTAAAGG -3'

Sequencing Primer
(F):5'- CAGGGCTGTGAGGCTCATC -3'
(R):5'- aaccttcctaatcctgtgacc -3'

Posted On

2013-07-11