Mutagenetix > Incidental Mutation

Incidental Mutation 'R7515:Ccr2'

582401

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

045588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123901987-123913594 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123906197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 159 (V159A)

Ref Sequence

ENSEMBL: ENSMUSP00000049909 (fasta)

Gene Model

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

AlphaFold

P51683

Predicted Effect

probably damaging
Transcript: ENSMUST00000055918
AA Change: V159A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049909
Gene: ENSMUSG00000049103
AA Change: V159A

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 damaging
Transcript: ENSMUST00000165984
AA Change: V159A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128734
Gene: ENSMUSG00000049103
AA Change: V159A

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 damaging
Transcript: ENSMUST00000168841
AA Change: V159A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132453
Gene: ENSMUSG00000049103
AA Change: V159A

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 damaging
Transcript: ENSMUST00000171719
AA Change: V159A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130112
Gene: ENSMUSG00000049103
AA Change: V159A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	T	11: 5,578,905 (GRCm39)	E56D	possibly damaging	Het
Ankrd44	T	C	1: 54,805,514 (GRCm39)	Y182C	probably damaging	Het
Anxa3	A	T	5: 96,986,179 (GRCm39)	N273Y	probably damaging	Het
Apobec2	T	C	17: 48,730,015 (GRCm39)	E217G	probably damaging	Het
Arhgap24	A	G	5: 102,993,882 (GRCm39)		probably benign	Het
Asap2	A	G	12: 21,279,240 (GRCm39)	H374R	possibly damaging	Het
Camsap2	T	C	1: 136,273,108 (GRCm39)	D23G	probably damaging	Het
Cfap61	T	A	2: 145,884,645 (GRCm39)	D614E	unknown	Het
Crb2	G	A	2: 37,673,412 (GRCm39)	G103R	probably damaging	Het
Cyp2b9	A	G	7: 25,898,596 (GRCm39)	Y317C	probably damaging	Het
Dhx36	A	G	3: 62,379,508 (GRCm39)	V860A	probably benign	Het
Dnah3	T	C	7: 119,672,815 (GRCm39)	D553G	probably benign	Het
Dnah7c	T	C	1: 46,496,450 (GRCm39)	S112P	probably benign	Het
Dnah9	A	G	11: 65,732,240 (GRCm39)	F4222S	probably benign	Het
Ei24	T	C	9: 36,701,211 (GRCm39)	D36G	probably damaging	Het
Etv3	G	T	3: 87,435,363 (GRCm39)	R78L	possibly damaging	Het
Fbxo34	T	C	14: 47,767,798 (GRCm39)	L437P	possibly damaging	Het
Foxn1	T	C	11: 78,261,970 (GRCm39)	D133G	possibly damaging	Het
Gabra1	T	A	11: 42,045,660 (GRCm39)	D150V	possibly damaging	Het
Gpr158	T	C	2: 21,373,092 (GRCm39)	L9P	probably damaging	Het
H2-M10.3	G	A	17: 36,677,435 (GRCm39)	T281I	probably damaging	Het
Il18r1	T	C	1: 40,537,830 (GRCm39)	S532P	not run	Het
Itpr2	T	C	6: 146,228,608 (GRCm39)	D1329G	probably damaging	Het
Jakmip2	A	T	18: 43,704,191 (GRCm39)	N384K	probably benign	Het
Kdsr	A	G	1: 106,662,290 (GRCm39)	V255A	possibly damaging	Het
Kifc1	A	G	17: 34,103,777 (GRCm39)	L182P	probably damaging	Het
Lgals8	G	A	13: 12,463,343 (GRCm39)	R198*	probably null	Het
Lrrk1	A	T	7: 65,912,310 (GRCm39)	M1750K	probably benign	Het
Lrsam1	A	G	2: 32,830,251 (GRCm39)		probably null	Het
Lztr1	C	T	16: 17,327,525 (GRCm39)	A76V	possibly damaging	Het
Mcc	G	T	18: 44,626,499 (GRCm39)	H366N	probably benign	Het
Mif4gd	A	G	11: 115,499,222 (GRCm39)	V220A	possibly damaging	Het
Mtmr12	T	A	15: 12,270,037 (GRCm39)	F708L	probably damaging	Het
Muc16	A	T	9: 18,550,958 (GRCm39)	W5112R	probably benign	Het
Ndrg2	A	G	14: 52,146,380 (GRCm39)	I140T	probably benign	Het
Nid2	C	A	14: 19,841,635 (GRCm39)	Q887K	probably benign	Het
Nop16	A	T	13: 54,737,550 (GRCm39)	S48T	possibly damaging	Het
Nrap	G	A	19: 56,354,859 (GRCm39)	T489I	possibly damaging	Het
Oas1e	C	T	5: 120,929,951 (GRCm39)	G189D	probably damaging	Het
Or4a39	A	G	2: 89,237,250 (GRCm39)	Y58H	possibly damaging	Het
Or7g34	A	T	9: 19,477,949 (GRCm39)	C244S	probably damaging	Het
Pcdha5	A	T	18: 37,095,171 (GRCm39)	D560V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phldb2	C	T	16: 45,594,603 (GRCm39)	D901N	possibly damaging	Het
Piezo1	T	C	8: 123,212,035 (GRCm39)	H2058R		Het
Ptgis	T	A	2: 167,048,758 (GRCm39)	K419N	possibly damaging	Het
Ptprz1	T	C	6: 23,022,266 (GRCm39)	F1714L	probably damaging	Het
Rasa2	T	C	9: 96,434,353 (GRCm39)		probably null	Het
Recql	C	T	6: 142,320,611 (GRCm39)	D146N	probably damaging	Het
Rnf6	T	G	5: 146,148,602 (GRCm39)	S139R	probably damaging	Het
Rock1	A	G	18: 10,067,631 (GRCm39)	S1301P	probably damaging	Het
Safb2	A	G	17: 56,889,982 (GRCm39)		probably null	Het
Setd5	T	A	6: 113,087,850 (GRCm39)	I137N	probably damaging	Het
Sf3b6	G	A	12: 4,870,619 (GRCm39)	R19Q	probably damaging	Het
Slc15a5	T	A	6: 138,020,496 (GRCm39)	H279L	possibly damaging	Het
Slc26a9	A	G	1: 131,681,711 (GRCm39)	T175A	probably damaging	Het
Sspo	A	T	6: 48,470,820 (GRCm39)	N36I	probably damaging	Het
Supv3l1	A	C	10: 62,268,090 (GRCm39)	F585C	probably damaging	Het
Tnrc6c	G	T	11: 117,632,507 (GRCm39)	V1070L	probably benign	Het
Vmn2r53	T	A	7: 12,315,846 (GRCm39)	M658L	probably benign	Het
Zc3h13	A	G	14: 75,546,349 (GRCm39)	D150G	unknown	Het
Zfp607b	T	C	7: 27,402,921 (GRCm39)	V459A	probably benign	Het
Zfp653	T	C	9: 21,982,427 (GRCm39)	R71G	probably damaging	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
R0602:Ccr2	UTSW	9	123,906,658 (GRCm39)	missense	probably benign	0.02
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
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'- ACTTGGCCATCTCTGACCTG -3'
(R):5'- TGTGGAGAATTCCTGAGTAGCAG -3'

Sequencing Primer
(F):5'- GGCCATCTCTGACCTGCTCTTC -3'
(R):5'- GCAGGATCAGGCTCAAGATATTTCTC -3'

Posted On

2019-10-17