Mutagenetix > Incidental Mutation

Incidental Mutation 'R9682:Ccr2'

728635

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123901987-123913594 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123906176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 152 (Y152C)

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: Y152C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049909
Gene: ENSMUSG00000049103
AA Change: Y152C

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: Y152C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128734
Gene: ENSMUSG00000049103
AA Change: Y152C

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: Y152C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132453
Gene: ENSMUSG00000049103
AA Change: Y152C

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: Y152C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130112
Gene: ENSMUSG00000049103
AA Change: Y152C

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: 99.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,752,507 (GRCm39)	M493L	probably benign	Het
Abcb5	T	A	12: 118,896,328 (GRCm39)	I334F	probably damaging	Het
Acad9	C	T	3: 36,136,268 (GRCm39)	A351V	possibly damaging	Het
Adgrg6	A	T	10: 14,316,128 (GRCm39)	N536K	possibly damaging	Het
Alk	A	T	17: 72,182,058 (GRCm39)	L1322M	possibly damaging	Het
Atp2b1	T	C	10: 98,815,662 (GRCm39)	V102A	possibly damaging	Het
Atp8b3	T	C	10: 80,371,230 (GRCm39)	N48S	probably damaging	Het
B3gnt4	A	T	5: 123,649,516 (GRCm39)	I294L	probably benign	Het
Bnip3	A	G	7: 138,496,445 (GRCm39)	S88P	probably damaging	Het
Cd28	T	C	1: 60,804,505 (GRCm39)	L161P	probably damaging	Het
Clcn4	C	T	7: 7,299,797 (GRCm39)	V11M	probably benign	Het
Clec4g	T	A	8: 3,757,713 (GRCm39)	S79C	unknown	Het
Cux1	A	T	5: 136,337,116 (GRCm39)	S799T	probably benign	Het
Cyp2t4	A	T	7: 26,857,611 (GRCm39)	H408L	probably damaging	Het
Cyp3a41a	A	T	5: 145,652,326 (GRCm39)	W58R	possibly damaging	Het
Dicer1	A	G	12: 104,672,484 (GRCm39)	V921A	probably damaging	Het
Dpysl3	A	G	18: 43,491,313 (GRCm39)	L268P	probably damaging	Het
Dus3l	G	A	17: 57,076,770 (GRCm39)	V626I	probably benign	Het
Epb41	C	A	4: 131,655,820 (GRCm39)	D337Y		Het
Fer1l6	A	G	15: 58,422,113 (GRCm39)	T104A	probably benign	Het
Fgd4	T	C	16: 16,302,202 (GRCm39)	T118A	probably benign	Het
Gabra4	T	A	5: 71,798,415 (GRCm39)	Y188F	possibly damaging	Het
Gm28168	A	T	1: 117,875,824 (GRCm39)	H151L	probably damaging	Het
Gm7995	A	G	14: 42,133,395 (GRCm39)	I91V		Het
Heg1	A	G	16: 33,541,298 (GRCm39)	E485G	probably benign	Het
Hirip3	A	G	7: 126,462,021 (GRCm39)	D73G	probably benign	Het
Igdcc3	A	G	9: 65,091,332 (GRCm39)	D684G	probably benign	Het
Kif15	A	G	9: 122,815,712 (GRCm39)	E502G	probably damaging	Het
Lrrc31	C	T	3: 30,743,423 (GRCm39)	V181I	probably damaging	Het
Lrrc7	G	T	3: 157,882,954 (GRCm39)	S446R	possibly damaging	Het
Lyst	A	G	13: 13,831,526 (GRCm39)	E1650G	probably benign	Het
Map3k6	A	G	4: 132,975,419 (GRCm39)	Y718C	possibly damaging	Het
Mta1	T	C	12: 113,095,384 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,553,874 (GRCm39)	G4140R	unknown	Het
Nfe2l1	A	C	11: 96,710,944 (GRCm39)	I428M	probably benign	Het
Nup210l	T	A	3: 90,051,469 (GRCm39)	Y538N	possibly damaging	Het
Nxpe4	G	A	9: 48,304,248 (GRCm39)	V112M	probably benign	Het
Or1e16	C	T	11: 73,286,025 (GRCm39)	M274I	probably benign	Het
Or4c112	T	A	2: 88,854,296 (GRCm39)	Q17L	possibly damaging	Het
Or4k40	T	A	2: 111,250,737 (GRCm39)	K186N	probably benign	Het
Or52d3	G	T	7: 104,229,434 (GRCm39)	A194S	probably damaging	Het
Or8g24	G	A	9: 38,989,874 (GRCm39)	H56Y	possibly damaging	Het
Palm	A	G	10: 79,655,039 (GRCm39)	T266A	possibly damaging	Het
Pdzph1	T	G	17: 59,257,262 (GRCm39)	K925N	probably damaging	Het
Pfkfb3	G	T	2: 11,491,058 (GRCm39)	Q179K	probably benign	Het
Phtf1	A	G	3: 103,901,214 (GRCm39)	Q421R	possibly damaging	Het
Pip5k1b	A	T	19: 24,356,318 (GRCm39)	S207T	probably damaging	Het
Pkd2	T	C	5: 104,626,790 (GRCm39)	V324A	probably damaging	Het
Plcxd1	A	T	5: 110,251,477 (GRCm39)	N351I	probably damaging	Het
Prr14l	G	A	5: 32,988,023 (GRCm39)	P491S	probably benign	Het
Rxfp2	A	T	5: 149,966,564 (GRCm39)	R101*	probably null	Het
Saxo2	T	G	7: 82,292,881 (GRCm39)	K72T	probably benign	Het
Sema3b	T	A	9: 107,481,013 (GRCm39)	D108V	probably damaging	Het
Sh3gl2	A	G	4: 85,295,748 (GRCm39)	D150G	probably damaging	Het
Slc6a12	G	A	6: 121,340,704 (GRCm39)	M544I	probably benign	Het
Spag6l	T	C	16: 16,646,981 (GRCm39)		probably null	Het
Stat3	A	G	11: 100,785,593 (GRCm39)	F512L	probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tjp3	C	T	10: 81,109,645 (GRCm39)	E853K	probably benign	Het
Tmem30c	A	T	16: 57,111,180 (GRCm39)	S31T	probably benign	Het
Tpte	A	T	8: 22,841,493 (GRCm39)	D495V	probably damaging	Het
Ugt2b5	A	T	5: 87,287,522 (GRCm39)	M215K	probably damaging	Het
Vinac1	T	C	2: 128,875,529 (GRCm39)	S1246G	unknown	Het
Vsig2	T	C	9: 37,451,771 (GRCm39)	L135S	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
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
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
X0026:Ccr2	UTSW	9	123,905,943 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTGGCCATCTCTGACCTG -3'
(R):5'- TGTGGAGAATTCCTGAGTAGC -3'

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

Posted On

2022-10-06