Mutagenetix > Incidental Mutation

Incidental Mutation 'R8743:Ccr2'

663361

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

068588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8743 (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 C at 123906131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 137 (Y137S)

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: Y137S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049909
Gene: ENSMUSG00000049103
AA Change: Y137S

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: Y137S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128734
Gene: ENSMUSG00000049103
AA Change: Y137S

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: Y137S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132453
Gene: ENSMUSG00000049103
AA Change: Y137S

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: Y137S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130112
Gene: ENSMUSG00000049103
AA Change: Y137S

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: 99.9%
10x: 99.2%
20x: 96.7%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,276,264 (GRCm39)	C468S	probably damaging	Het
Adamts7	G	A	9: 90,077,296 (GRCm39)	R1321H	probably damaging	Het
Adra2c	T	C	5: 35,437,792 (GRCm39)	V188A	possibly damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Ap1g1	A	G	8: 110,564,423 (GRCm39)	N323D	probably damaging	Het
Arhgap15	A	T	2: 43,638,876 (GRCm39)		probably benign	Het
Arhgef33	T	C	17: 80,667,882 (GRCm39)		probably null	Het
Armc1	C	T	3: 19,211,700 (GRCm39)	C40Y	probably benign	Het
Arsk	C	A	13: 76,214,928 (GRCm39)	V309F	probably damaging	Het
Atp4b	A	T	8: 13,443,489 (GRCm39)	M63K	probably damaging	Het
Cacna1s	T	C	1: 136,033,286 (GRCm39)	L1237P	probably damaging	Het
Ccnt2	A	G	1: 127,702,020 (GRCm39)	E19G	probably damaging	Het
Cdc40	C	T	10: 40,717,480 (GRCm39)	D404N	probably damaging	Het
Cfh	A	T	1: 140,046,323 (GRCm39)		probably null	Het
Chd5	T	A	4: 152,450,862 (GRCm39)	V662E	probably benign	Het
Cnga4	A	G	7: 105,057,220 (GRCm39)	D544G	probably benign	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Coro6	T	A	11: 77,357,265 (GRCm39)	I158N	probably damaging	Het
Cpa1	A	G	6: 30,642,992 (GRCm39)	S307G	probably damaging	Het
Depdc5	T	A	5: 33,081,587 (GRCm39)	M583K	probably benign	Het
Dock2	G	T	11: 34,223,252 (GRCm39)	S1170*	probably null	Het
Dusp16	A	T	6: 134,694,933 (GRCm39)	S633T	probably benign	Het
Esco1	T	C	18: 10,572,123 (GRCm39)	E739G	probably damaging	Het
Fam193a	T	A	5: 34,577,501 (GRCm39)		probably null	Het
Fat4	G	A	3: 38,942,592 (GRCm39)	S495N	probably benign	Het
Galnt10	A	G	11: 57,675,409 (GRCm39)	Y556C	probably damaging	Het
Garin5b	T	A	7: 4,760,814 (GRCm39)	T633S		Het
Gc	A	T	5: 89,591,311 (GRCm39)	D142E	probably benign	Het
Gda	A	T	19: 21,377,952 (GRCm39)	F369Y	probably damaging	Het
Glce	A	T	9: 61,968,103 (GRCm39)	S349R	probably benign	Het
Glp2r	A	G	11: 67,612,901 (GRCm39)	L351P	probably damaging	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Gxylt2	A	T	6: 100,764,284 (GRCm39)	Y323F	probably benign	Het
Hmmr	T	C	11: 40,598,858 (GRCm39)	N589D	probably damaging	Het
Hsd17b3	A	C	13: 64,210,712 (GRCm39)	D214E	probably benign	Het
Kat6a	A	G	8: 23,429,022 (GRCm39)	D1459G	possibly damaging	Het
Lad1	G	A	1: 135,758,933 (GRCm39)	R465H	probably benign	Het
Lcmt1	T	A	7: 122,999,691 (GRCm39)	D46E	probably damaging	Het
Map4k1	G	A	7: 28,686,542 (GRCm39)	D155N	probably damaging	Het
Mylk	G	T	16: 34,741,427 (GRCm39)	R796L	probably benign	Het
Nat8l	T	A	5: 34,154,510 (GRCm39)	L108Q	probably damaging	Het
Nlrp5	T	C	7: 23,118,172 (GRCm39)	V632A	probably benign	Het
Nr3c2	A	G	8: 77,636,387 (GRCm39)	E496G	probably damaging	Het
Nucb2	A	G	7: 116,128,065 (GRCm39)	D258G	probably damaging	Het
Or8b12	G	T	9: 37,658,174 (GRCm39)	C248F	probably benign	Het
Or8b56	A	T	9: 38,738,995 (GRCm39)	I3F	probably benign	Het
Papln	A	G	12: 83,829,764 (GRCm39)	K962E	probably damaging	Het
Pcdha8	T	A	18: 37,127,372 (GRCm39)	M618K	probably benign	Het
Pclo	A	G	5: 14,764,580 (GRCm39)	D1066G		Het
Phip	A	T	9: 82,809,140 (GRCm39)	M446K	probably benign	Het
Pkn3	A	G	2: 29,973,318 (GRCm39)	K380R	probably benign	Het
Potefam1	T	C	2: 111,000,017 (GRCm39)	T198A	unknown	Het
Ppa1	C	A	10: 61,496,758 (GRCm39)	A82E	possibly damaging	Het
Prune2	A	C	19: 17,096,920 (GRCm39)	D808A	probably benign	Het
Psme4	T	G	11: 30,828,467 (GRCm39)	L1829R	probably damaging	Het
Rtp4	A	C	16: 23,431,866 (GRCm39)	K133Q	possibly damaging	Het
Scaf11	C	T	15: 96,313,669 (GRCm39)	A1371T	probably benign	Het
Serpinb9g	A	T	13: 33,678,931 (GRCm39)	H267L	probably benign	Het
Slc47a2	T	G	11: 61,233,588 (GRCm39)	D6A	probably benign	Het
Slco1a4	A	T	6: 141,765,255 (GRCm39)	V329D	possibly damaging	Het
Smg6	T	C	11: 74,820,859 (GRCm39)	S377P	probably benign	Het
Spata31g1	A	G	4: 42,971,030 (GRCm39)	H121R	probably benign	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Taar2	A	T	10: 23,817,369 (GRCm39)	Y303F	probably damaging	Het
Tgm6	A	G	2: 129,985,418 (GRCm39)	D407G	probably damaging	Het
Twf2	A	G	9: 106,090,010 (GRCm39)	E153G	possibly damaging	Het
Upb1	A	G	10: 75,275,710 (GRCm39)	Y365C	probably damaging	Het
Vmn2r4	A	T	3: 64,317,247 (GRCm39)	S164T	possibly damaging	Het
Wtip	C	T	7: 33,824,979 (GRCm39)	G202R	possibly damaging	Het
Zfhx4	G	A	3: 5,309,084 (GRCm39)	C770Y	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
R7515:Ccr2	UTSW	9	123,906,197 (GRCm39)	missense	probably damaging	1.00
R7575:Ccr2	UTSW	9	123,905,843 (GRCm39)	missense	probably benign
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'- ATTGGAGCTTGGATCCTGCC -3'
(R):5'- ACAGGTGTAATGGTGATCATCTTG -3'

Sequencing Primer
(F):5'- GGGCAACATGTTGGTCATTATAATTC -3'
(R):5'- ATGGTGATCATCTTGTTTGGATTTAG -3'

Posted On

2021-03-08