Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03143:Ackr2'

410745

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ackr2

Ensembl Gene

ENSMUSG00000044534

Gene Name

atypical chemokine receptor 2

Synonyms

chemokine decoy receptor D6, D6, Ccbp2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03143

Quality Score

Status

Chromosome

Chromosomal Location

121727421-121740140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 121738333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 236 (L236R)

Ref Sequence

ENSEMBL: ENSMUSP00000148966 (fasta)

Gene Model

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

AlphaFold

O08707

Predicted Effect

probably damaging
Transcript: ENSMUST00000050327
AA Change: L236R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534
AA Change: L236R

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 damaging
Transcript: ENSMUST00000214340
AA Change: L236R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215664

Predicted Effect

probably benign
Transcript: ENSMUST00000216326

Coding Region Coverage

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	C	T	7: 76,069,793 (GRCm39)	Q442*	probably null	Het
Ahrr	G	A	13: 74,405,614 (GRCm39)	Q108*	probably null	Het
Ankrd23	T	C	1: 36,570,726 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,104 (GRCm39)	I225T	probably damaging	Het
Asxl3	T	C	18: 22,656,031 (GRCm39)	V1347A	probably benign	Het
Birc6	A	G	17: 74,905,994 (GRCm39)	M1326V	possibly damaging	Het
Bpifb6	A	C	2: 153,744,655 (GRCm39)	N32T	probably damaging	Het
Brip1	T	A	11: 85,952,653 (GRCm39)	T1043S	possibly damaging	Het
Cbx5	A	T	15: 103,121,532 (GRCm39)	V35E	probably damaging	Het
Ccdc175	T	A	12: 72,182,832 (GRCm39)	M396L	probably benign	Het
Ceacam3	G	T	7: 16,892,045 (GRCm39)	E263*	probably null	Het
Cyp4a12a	A	G	4: 115,159,200 (GRCm39)	T157A	probably benign	Het
Dennd11	A	T	6: 40,399,828 (GRCm39)		probably benign	Het
Derl3	T	C	10: 75,730,324 (GRCm39)	V129A	possibly damaging	Het
Dnajb1	T	C	8: 84,335,103 (GRCm39)	I48T	probably damaging	Het
Dop1b	G	A	16: 93,556,543 (GRCm39)	E349K	probably benign	Het
Fkbp10	A	T	11: 100,313,580 (GRCm39)	I285F	probably benign	Het
Frrs1	A	T	3: 116,692,836 (GRCm39)	T37S	probably damaging	Het
Gata2	A	G	6: 88,181,677 (GRCm39)	Y377C	probably damaging	Het
Gm9789	T	A	16: 88,954,883 (GRCm39)		probably benign	Het
Itpkb	T	A	1: 180,160,933 (GRCm39)	V353D	probably benign	Het
Kcng4	T	C	8: 120,352,509 (GRCm39)	E467G	probably damaging	Het
Kdm3a	A	T	6: 71,573,845 (GRCm39)	I906N	probably damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lamc1	A	T	1: 153,208,020 (GRCm39)	L89Q	probably benign	Het
Lef1	G	T	3: 130,993,965 (GRCm39)	E314*	probably null	Het
Lpin3	T	C	2: 160,745,518 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,218,676 (GRCm39)	N452D	possibly damaging	Het
Naaladl1	C	T	19: 6,164,896 (GRCm39)	T628I	possibly damaging	Het
Nell1	C	T	7: 49,929,281 (GRCm39)	Q259*	probably null	Het
Neu2	G	T	1: 87,524,698 (GRCm39)	E228*	probably null	Het
Or5b119	A	T	19: 13,456,835 (GRCm39)	H242Q	probably damaging	Het
Or5k15	A	G	16: 58,709,824 (GRCm39)	F253S	probably damaging	Het
Or8g21	T	G	9: 38,906,732 (GRCm39)		probably benign	Het
Or8k20	T	C	2: 86,106,580 (GRCm39)	N84D	probably benign	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Palm	T	C	10: 79,652,617 (GRCm39)		probably benign	Het
Parp8	C	A	13: 117,047,497 (GRCm39)		probably benign	Het
Pax7	A	G	4: 139,556,798 (GRCm39)		probably benign	Het
Pcnx3	G	A	19: 5,735,423 (GRCm39)	R468W	probably damaging	Het
Pds5b	T	A	5: 150,702,722 (GRCm39)	V818D	probably damaging	Het
Piezo2	C	T	18: 63,241,147 (GRCm39)	V694I	probably damaging	Het
Plk1	A	G	7: 121,760,877 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,130,367 (GRCm39)		probably benign	Het
Rad54b	A	G	4: 11,599,755 (GRCm39)	T320A	probably damaging	Het
Reg3b	G	A	6: 78,349,183 (GRCm39)	W103*	probably null	Het
Slc17a3	T	G	13: 24,039,962 (GRCm39)		probably null	Het
Snrnp200	C	T	2: 127,071,962 (GRCm39)		probably benign	Het
Stox2	T	A	8: 47,646,839 (GRCm39)	H207L	possibly damaging	Het
Tbx15	A	C	3: 99,259,514 (GRCm39)	M462L	possibly damaging	Het
Tcirg1	G	A	19: 3,948,811 (GRCm39)	T458I	probably damaging	Het
Tnfrsf25	A	G	4: 152,201,384 (GRCm39)		probably benign	Het
Trank1	A	G	9: 111,195,155 (GRCm39)	K1060E	probably damaging	Het
Ttc16	T	C	2: 32,664,457 (GRCm39)	D3G	possibly damaging	Het
Vmn1r199	A	C	13: 22,567,299 (GRCm39)	N155H	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	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
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
R0366:Ackr2	UTSW	9	121,738,426 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02