Mutagenetix > Incidental Mutation

Incidental Mutation 'R0366:Ackr2'

36423

Institutional Source

Beutler Lab

Gene Symbol

Ackr2

Ensembl Gene

ENSMUSG00000044534

Gene Name

atypical chemokine receptor 2

Synonyms

chemokine decoy receptor D6, D6, Ccbp2

MMRRC Submission

038572-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121727421-121740140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121738426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 267 (L267P)

Ref Sequence

ENSEMBL: ENSMUSP00000148966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050327] [ENSMUST00000062474] [ENSMUST00000214340] [ENSMUST00000215664] [ENSMUST00000216326]

AlphaFold

O08707

Predicted Effect

probably damaging
Transcript: ENSMUST00000050327
AA Change: L267P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534
AA Change: L267P

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
Pfam:7tm_1	62	311	1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000062474

SMART Domains

Protein: ENSMUSP00000052989
Gene: ENSMUSG00000050445

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
Pfam:p450	32	492	5.7e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214340
AA Change: L267P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000215664

Predicted Effect

probably benign
Transcript: ENSMUST00000216326

Meta Mutation Damage Score

0.8544

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased inflammatory responses but are viable and fertile without any other gross abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,724 (GRCm39)	S93*	probably null	Het
Adgre4	T	A	17: 56,099,001 (GRCm39)	L169*	probably null	Het
Ankrd12	T	A	17: 66,291,501 (GRCm39)	S1311C	possibly damaging	Het
Arid2	T	A	15: 96,259,601 (GRCm39)		probably benign	Het
Atp9b	A	T	18: 80,805,317 (GRCm39)	V747E	probably damaging	Het
Best1	T	C	19: 9,969,417 (GRCm39)		probably null	Het
Brwd1	C	A	16: 95,839,164 (GRCm39)	E836*	probably null	Het
Cachd1	A	G	4: 100,851,934 (GRCm39)	S1177G	possibly damaging	Het
Cacna1e	C	T	1: 154,291,884 (GRCm39)	E1766K	probably benign	Het
Cckar	A	G	5: 53,857,507 (GRCm39)	I301T	probably benign	Het
Cdc27	T	G	11: 104,396,474 (GRCm39)	T816P	probably damaging	Het
Cep162	T	G	9: 87,102,537 (GRCm39)	Q708H	probably damaging	Het
Cep250	C	A	2: 155,830,321 (GRCm39)	D1301E	probably benign	Het
D430041D05Rik	G	A	2: 104,085,685 (GRCm39)	H955Y	probably damaging	Het
Dcdc2a	T	A	13: 25,240,417 (GRCm39)	V55E	probably damaging	Het
Efcab12	A	G	6: 115,800,209 (GRCm39)		probably benign	Het
Ep400	A	G	5: 110,849,537 (GRCm39)	V1428A	unknown	Het
Erbb3	T	C	10: 128,408,439 (GRCm39)	E825G	possibly damaging	Het
Evl	A	T	12: 108,652,307 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,381,507 (GRCm39)	R140H	probably benign	Het
Gm5581	T	C	6: 131,143,410 (GRCm39)		noncoding transcript	Het
Gm7052	T	C	17: 22,259,498 (GRCm39)		probably benign	Het
Gpd1	T	G	15: 99,617,151 (GRCm39)	I119S	probably damaging	Het
Gzmc	A	T	14: 56,470,193 (GRCm39)	Y101*	probably null	Het
Hmcn2	G	T	2: 31,314,218 (GRCm39)	A3588S	possibly damaging	Het
Ikbkb	A	G	8: 23,185,276 (GRCm39)		probably benign	Het
Itgax	G	T	7: 127,748,261 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,428,717 (GRCm39)	S81I	possibly damaging	Het
Lct	G	A	1: 128,214,199 (GRCm39)	P1858S	probably benign	Het
Map2k1	C	A	9: 64,100,984 (GRCm39)		probably null	Het
Mdga1	A	G	17: 30,076,682 (GRCm39)	V30A	possibly damaging	Het
Meiosin	T	A	7: 18,840,964 (GRCm39)	I57F	probably damaging	Het
Mtcl1	G	A	17: 66,645,124 (GRCm39)	P1441L	probably damaging	Het
N4bp2	T	A	5: 65,963,739 (GRCm39)	F596Y	possibly damaging	Het
Notch4	A	T	17: 34,800,473 (GRCm39)		probably benign	Het
Or2l5	A	G	16: 19,333,598 (GRCm39)	S263P	probably benign	Het
Or4c12	A	C	2: 89,774,162 (GRCm39)	V99G	possibly damaging	Het
Or6c1	A	G	10: 129,517,840 (GRCm39)	M256T	possibly damaging	Het
Or8b44	T	A	9: 38,410,450 (GRCm39)	C162S	possibly damaging	Het
Or8k25	A	G	2: 86,244,369 (GRCm39)	V9A	possibly damaging	Het
Pbld2	A	G	10: 62,889,736 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,808,460 (GRCm39)	Y505C	probably damaging	Het
Plcb2	A	G	2: 118,554,928 (GRCm39)	F58L	probably benign	Het
Plcd1	T	A	9: 118,910,204 (GRCm39)	I72F	probably damaging	Het
Ppp5c	A	T	7: 16,756,508 (GRCm39)	Y63*	probably null	Het
Prdm4	T	C	10: 85,743,868 (GRCm39)	D129G	probably damaging	Het
Prkcq	C	A	2: 11,251,649 (GRCm39)		probably benign	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rab7b	T	A	1: 131,626,242 (GRCm39)	V90D	probably damaging	Het
Ripk3	T	C	14: 56,024,292 (GRCm39)	T193A	probably damaging	Het
Rnf167	C	T	11: 70,540,143 (GRCm39)	R88*	probably null	Het
Robo1	A	G	16: 72,539,133 (GRCm39)	T59A	possibly damaging	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Scg3	T	A	9: 75,582,620 (GRCm39)		probably benign	Het
Sec31a	A	T	5: 100,530,625 (GRCm39)	L677H	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Setd7	T	C	3: 51,457,741 (GRCm39)	T29A	probably benign	Het
Shoc1	A	C	4: 59,099,410 (GRCm39)	M94R	probably benign	Het
Slc4a5	A	G	6: 83,272,854 (GRCm39)	Y942C	probably benign	Het
Slit1	T	A	19: 41,599,470 (GRCm39)	Y1027F	probably damaging	Het
Sptan1	G	A	2: 29,882,764 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,208,227 (GRCm39)	Q249R	probably benign	Het
Tmem171	T	A	13: 98,828,736 (GRCm39)	D138V	possibly damaging	Het
Ttll10	G	A	4: 156,119,612 (GRCm39)	R596W	probably damaging	Het
Usp53	G	T	3: 122,742,850 (GRCm39)	N695K	probably damaging	Het
Vmn2r25	A	T	6: 123,800,581 (GRCm39)	L587*	probably null	Het
Zglp1	C	T	9: 20,974,675 (GRCm39)	C171Y	probably benign	Het

Other mutations in Ackr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Ackr2	APN	9	121,738,566 (GRCm39)	missense	probably benign	0.02
IGL01744:Ackr2	APN	9	121,738,185 (GRCm39)	missense	probably benign	0.06
IGL03019:Ackr2	APN	9	121,738,248 (GRCm39)	missense	probably benign	0.43
IGL03143:Ackr2	APN	9	121,738,333 (GRCm39)	missense	probably damaging	1.00
IGL03398:Ackr2	APN	9	121,737,654 (GRCm39)	missense	probably damaging	1.00
R0180:Ackr2	UTSW	9	121,737,982 (GRCm39)	missense	probably benign	0.44
R1295:Ackr2	UTSW	9	121,737,783 (GRCm39)	missense	possibly damaging	0.94
R1596:Ackr2	UTSW	9	121,738,278 (GRCm39)	missense	probably damaging	1.00
R1827:Ackr2	UTSW	9	121,738,581 (GRCm39)	missense	probably benign	0.36
R2109:Ackr2	UTSW	9	121,738,026 (GRCm39)	missense	probably damaging	0.98
R2125:Ackr2	UTSW	9	121,737,852 (GRCm39)	nonsense	probably null
R2414:Ackr2	UTSW	9	121,738,040 (GRCm39)	missense	probably damaging	1.00
R4161:Ackr2	UTSW	9	121,738,588 (GRCm39)	missense	probably benign	0.05
R4524:Ackr2	UTSW	9	121,738,609 (GRCm39)	missense	probably benign
R4732:Ackr2	UTSW	9	121,738,249 (GRCm39)	missense	probably damaging	0.98
R4733:Ackr2	UTSW	9	121,738,249 (GRCm39)	missense	probably damaging	0.98
R5809:Ackr2	UTSW	9	121,738,540 (GRCm39)	missense	probably damaging	1.00
R7203:Ackr2	UTSW	9	121,738,033 (GRCm39)	missense	probably damaging	1.00
R7210:Ackr2	UTSW	9	121,737,943 (GRCm39)	missense	possibly damaging	0.64
R7267:Ackr2	UTSW	9	121,737,874 (GRCm39)	missense	probably damaging	1.00
R7665:Ackr2	UTSW	9	121,738,374 (GRCm39)	missense	probably benign
R8090:Ackr2	UTSW	9	121,738,045 (GRCm39)	missense	possibly damaging	0.53
R9074:Ackr2	UTSW	9	121,737,729 (GRCm39)	missense	probably damaging	1.00
R9598:Ackr2	UTSW	9	121,737,657 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GCGACCATTTGGAAGCTGTACCTG -3'
(R):5'- CCCAAGGTCATTCATGCTGACCAC -3'

Sequencing Primer
(F):5'- AAGCTGTACCTGCGCTTC -3'
(R):5'- ACGTCTTCCTGGGCAGTAAC -3'

Posted On

2013-05-09