Mutagenetix > Incidental Mutations

Incidental Mutation 'R0499:Ccr2'

47028

Institutional Source

Beutler Lab

Gene Symbol

Ccr2

Ensembl Gene

ENSMUSG00000049103

Gene Name

chemokine (C-C motif) receptor 2

Synonyms

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

MMRRC Submission

038695-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124101950-124113557 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 124105939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 85 (K85N)

Ref Sequence

ENSEMBL: ENSMUSP00000130112 (fasta)

Gene Model

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

AlphaFold

P51683

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055918
AA Change: K85N

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000049909
Gene: ENSMUSG00000049103
AA Change: K85N

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

possibly damaging
Transcript: ENSMUST00000165984
AA Change: K85N

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128734
Gene: ENSMUSG00000049103
AA Change: K85N

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

possibly damaging
Transcript: ENSMUST00000168841
AA Change: K85N

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132453
Gene: ENSMUSG00000049103
AA Change: K85N

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

possibly damaging
Transcript: ENSMUST00000171719
AA Change: K85N

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130112
Gene: ENSMUSG00000049103
AA Change: K85N

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

0.6520

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,085,415	V388A	probably damaging	Het
Acpp	T	C	9: 104,320,002	E146G	probably damaging	Het
Adap2	A	T	11: 80,176,079	R276S	probably damaging	Het
Agbl3	A	T	6: 34,839,335	M727L	probably benign	Het
Ahnak	T	A	19: 9,000,264		probably benign	Het
Ankmy1	G	T	1: 92,886,226	D410E	probably damaging	Het
Ankra2	T	C	13: 98,266,454	S70P	probably damaging	Het
Aox4	T	C	1: 58,263,397		probably null	Het
Arl13b	G	A	16: 62,801,733	T399I	probably benign	Het
Atad2	A	T	15: 58,103,240	D652E	possibly damaging	Het
Atad2	T	G	15: 58,120,949	M328L	probably benign	Het
BC052040	C	T	2: 115,642,691	R101W	probably damaging	Het
Ccnb1	T	C	13: 100,780,134		probably null	Het
Cdc20b	T	C	13: 113,055,950	V59A	probably benign	Het
Cdkl3	T	C	11: 52,032,416	S507P	possibly damaging	Het
Celf6	C	A	9: 59,602,878	T86K	probably benign	Het
Ces1g	A	G	8: 93,333,689	F101L	probably benign	Het
Cntnap3	C	T	13: 64,858,678	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950	D534V	probably damaging	Het
Col27a1	A	G	4: 63,300,741		probably benign	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Cstf3	A	G	2: 104,649,605	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,761,217	T150A	probably benign	Het
Dnah8	T	A	17: 30,715,509	F1489L	possibly damaging	Het
Dopey2	A	T	16: 93,770,437	T1251S	probably benign	Het
Dtx2	G	A	5: 136,029,103	G421R	probably damaging	Het
Dusp27	C	A	1: 166,099,101	V981L	probably benign	Het
Epb41l3	T	A	17: 69,247,659	D251E	probably benign	Het
Erg	A	C	16: 95,360,983	Y305*	probably null	Het
Exosc4	G	A	15: 76,329,566	A197T	probably benign	Het
Fam227b	T	A	2: 126,100,909	I323L	probably benign	Het
Far1	G	T	7: 113,554,296		probably benign	Het
Fmod	A	G	1: 134,041,196	I325V	possibly damaging	Het
Fshr	C	G	17: 89,009,285	S169T	probably benign	Het
Gm17359	T	A	3: 79,405,786	W56R	probably damaging	Het
Gm17660	C	A	5: 104,074,881	G24*	probably null	Het
Gm4076	G	T	13: 85,127,226		noncoding transcript	Het
Gm5134	A	T	10: 75,992,525	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,425,203	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,254,672	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121	L268P	probably damaging	Het
Herc2	C	A	7: 56,184,369	C3107*	probably null	Het
Herc4	T	C	10: 63,264,032	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,921	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,147,984		probably null	Het
Il18rap	A	T	1: 40,525,058	H112L	probably benign	Het
Il1r2	T	A	1: 40,123,149	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097	V190L	probably benign	Het
Ipo11	T	C	13: 106,925,087	T22A	probably benign	Het
Itgb4	C	A	11: 115,979,695	R117S	probably benign	Het
Lcorl	C	G	5: 45,734,369	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,398,193		probably null	Het
Lyst	T	A	13: 13,616,713	L54I	probably damaging	Het
Mcm9	T	C	10: 53,538,154	T1015A	probably benign	Het
Mef2d	T	A	3: 88,156,518	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,397,956	N261S	probably damaging	Het
Mpdz	T	C	4: 81,292,531	T1693A	probably benign	Het
Mss51	T	A	14: 20,484,688	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,063,984	Y160N	probably damaging	Het
Muc6	T	C	7: 141,640,468	T1431A	probably benign	Het
Nek9	A	T	12: 85,301,883	M959K	probably benign	Het
Odf3l2	T	C	10: 79,640,265	D155G	probably damaging	Het
Olfr1311	A	T	2: 112,021,432	C141S	probably damaging	Het
Olfr319	G	A	11: 58,702,243	V181I	probably benign	Het
Olfr911-ps1	A	T	9: 38,524,505	M258L	probably benign	Het
Otog	G	T	7: 46,273,832	G1044W	probably damaging	Het
Pcdh9	G	A	14: 93,886,235	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,527,651	K111R	probably damaging	Het
Pde5a	A	G	3: 122,748,458	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,937,971	V355A	probably damaging	Het
Podn	G	T	4: 108,021,594	L359I	probably damaging	Het
Psd	T	C	19: 46,322,161	E483G	probably damaging	Het
Ptch2	T	A	4: 117,111,143	L905*	probably null	Het
Rxfp2	T	A	5: 150,066,415	N420K	probably damaging	Het
Sde2	T	A	1: 180,862,427	D237E	probably benign	Het
Serpina1d	A	T	12: 103,765,757	L281Q	probably damaging	Het
Serpina9	T	C	12: 104,001,470	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,577,559	K57E	probably damaging	Het
Shc3	C	T	13: 51,480,228		probably benign	Het
Sik3	T	C	9: 46,208,740	M659T	possibly damaging	Het
Slc23a2	A	G	2: 132,072,017	L280P	probably damaging	Het
Smchd1	G	T	17: 71,387,088	Q1221K	probably benign	Het
Spocd1	A	G	4: 129,955,470	N694S	possibly damaging	Het
Tecta	T	C	9: 42,352,063	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,841,673	V172D	probably damaging	Het
Trpm3	T	C	19: 22,986,873	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,768,501	N478S	probably benign	Het
Usp36	A	G	11: 118,273,571	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,978,509	Q265L	probably damaging	Het
Vwf	A	T	6: 125,638,114	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,232,206	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,955,080		probably null	Het

Other mutations in Ccr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01816:Ccr2	APN	9	124106198	missense	probably benign
IGL02678:Ccr2	APN	9	124106746	missense	probably benign	0.00
IGL02962:Ccr2	APN	9	124105675	splice site	probably benign
IGL03330:Ccr2	APN	9	124105959	missense	probably damaging	1.00
IGL03381:Ccr2	APN	9	124106372	missense	probably benign	0.22
R0499:Ccr2	UTSW	9	124106126	missense	possibly damaging	0.77
R0602:Ccr2	UTSW	9	124106621	missense	probably benign	0.02
R0714:Ccr2	UTSW	9	124105929	missense	probably benign
R1975:Ccr2	UTSW	9	124106793	missense	probably benign	0.05
R4785:Ccr2	UTSW	9	124106372	missense	probably benign	0.22
R5858:Ccr2	UTSW	9	124106427	missense	probably benign	0.45
R5901:Ccr2	UTSW	9	124106202	missense	possibly damaging	0.50
R6179:Ccr2	UTSW	9	124105971	missense	probably damaging	1.00
R6933:Ccr2	UTSW	9	124106124	missense	probably damaging	1.00
R7353:Ccr2	UTSW	9	124106756	missense	probably damaging	1.00
R7515:Ccr2	UTSW	9	124106160	missense	probably damaging	1.00
R7575:Ccr2	UTSW	9	124105806	missense	probably benign
R8743:Ccr2	UTSW	9	124106094	missense	probably damaging	0.99
R8746:Ccr2	UTSW	9	124106411	missense	probably benign	0.00
R9215:Ccr2	UTSW	9	124105986	missense	probably damaging	1.00
X0026:Ccr2	UTSW	9	124105906	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGTTACCTCAGTTCATCCACGGC -3'
(R):5'- TCCTGGTAGAGAGGCAAACACAGC -3'

Sequencing Primer
(F):5'- TACACGAAGTATCCAAGAGCTTGATG -3'
(R):5'- CCAAGTACCTATCAATTGTCAGGAGG -3'

Posted On

2013-06-12