Mutagenetix > Incidental Mutation

Incidental Mutation 'R1295:Ackr2'

158072

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

039361-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121727421-121740140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121737783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 53 (S53G)

Ref Sequence

ENSEMBL: ENSMUSP00000150219 (fasta)

Gene Model

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

AlphaFold

O08707

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050327
AA Change: S53G

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000050119
Gene: ENSMUSG00000044534
AA Change: S53G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214340
AA Change: S53G

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000215664

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216326
AA Change: S53G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.1312

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.1%
20x: 82.0%

Validation Efficiency

98% (81/83)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	A	15: 74,421,888 (GRCm39)	L886Q	probably damaging	Het
Adprhl1	G	A	8: 13,298,624 (GRCm39)	T102M	probably damaging	Het
Akap6	A	C	12: 52,933,812 (GRCm39)	K435Q	probably damaging	Het
Aldh7a1	T	C	18: 56,680,022 (GRCm39)		probably null	Het
Amfr	T	C	8: 94,701,432 (GRCm39)	R507G	probably benign	Het
Ap1m1	T	A	8: 73,005,719 (GRCm39)		probably null	Het
Arhgap29	A	G	3: 121,786,044 (GRCm39)	H275R	probably benign	Het
Arhgef17	C	A	7: 100,530,476 (GRCm39)	E428*	probably null	Het
Atm	A	T	9: 53,367,830 (GRCm39)	V2431E	probably damaging	Het
Atn1	G	T	6: 124,724,750 (GRCm39)	P161Q	unknown	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Ccar1	C	A	10: 62,619,661 (GRCm39)		probably null	Het
Cdk18	T	C	1: 132,047,698 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Col5a3	A	G	9: 20,719,714 (GRCm39)	F215S	unknown	Het
Decr1	T	C	4: 15,919,207 (GRCm39)	N312S	possibly damaging	Het
Diaph3	A	T	14: 87,244,835 (GRCm39)	W178R	probably damaging	Het
Dync2h1	A	G	9: 7,075,752 (GRCm39)		probably benign	Het
Ehd3	C	A	17: 74,135,181 (GRCm39)	D352E	probably damaging	Het
Enpp6	T	G	8: 47,518,535 (GRCm39)	I221S	probably benign	Het
Fam186a	T	C	15: 99,837,670 (GRCm39)		probably benign	Het
Gm5435	G	T	12: 82,542,558 (GRCm39)		noncoding transcript	Het
Gpr22	A	C	12: 31,759,513 (GRCm39)	I203S	probably benign	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Grik3	G	A	4: 125,598,357 (GRCm39)		probably benign	Het
Gstcd	T	C	3: 132,711,389 (GRCm39)	N431D	probably damaging	Het
H1f5	T	C	13: 21,964,169 (GRCm39)	S186G	probably benign	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Ift140	G	T	17: 25,307,907 (GRCm39)		probably null	Het
Ikbke	A	G	1: 131,197,963 (GRCm39)	V381A	probably benign	Het
Ing1	A	C	8: 11,611,501 (GRCm39)	I38L	probably benign	Het
Ing1	T	A	8: 11,611,502 (GRCm39)	I38N	probably damaging	Het
Itga4	A	G	2: 79,153,033 (GRCm39)	M907V	possibly damaging	Het
Kcnk12	C	T	17: 88,053,801 (GRCm39)	G287D	probably damaging	Het
Kmt2e	A	C	5: 23,707,402 (GRCm39)	H1655P	probably damaging	Het
Mbtd1	A	G	11: 93,801,185 (GRCm39)	Y122C	probably damaging	Het
Mif-ps9	T	A	19: 56,743,766 (GRCm39)		noncoding transcript	Het
Mslnl	T	C	17: 25,962,214 (GRCm39)	L204P	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Nav3	T	A	10: 109,527,963 (GRCm39)	D2240V	probably damaging	Het
Ndufaf3	T	C	9: 108,443,892 (GRCm39)	T9A	probably damaging	Het
Numb	C	A	12: 83,842,935 (GRCm39)		probably benign	Het
Prodh2	T	C	7: 30,193,514 (GRCm39)	V79A	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Rnf19a	G	T	15: 36,244,247 (GRCm39)	Y604*	probably null	Het
Ros1	T	A	10: 51,964,028 (GRCm39)	E1744V	possibly damaging	Het
Rpusd2	T	C	2: 118,867,408 (GRCm39)	F219L	probably benign	Het
Sall2	T	C	14: 52,551,182 (GRCm39)	N671S	probably damaging	Het
Sele	T	A	1: 163,878,379 (GRCm39)	S239R	probably damaging	Het
Serpina3b	T	C	12: 104,097,138 (GRCm39)	F140L	probably damaging	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sufu	G	A	19: 46,443,159 (GRCm39)		probably benign	Het
Tbx2	A	G	11: 85,725,592 (GRCm39)	E181G	probably damaging	Het
Thumpd2	A	G	17: 81,363,317 (GRCm39)	V50A	probably damaging	Het
Tlcd4	A	G	3: 121,000,940 (GRCm39)	V231A	probably benign	Het
Ttn	C	A	2: 76,573,589 (GRCm39)	R17441L	probably damaging	Het
Usp34	A	G	11: 23,334,477 (GRCm39)	Y1157C	probably damaging	Het
Vmn1r9	T	C	6: 57,048,522 (GRCm39)	V199A	probably damaging	Het
Vmn2r6	A	G	3: 64,445,694 (GRCm39)	F677S	probably damaging	Het
Vmn2r84	C	T	10: 130,225,008 (GRCm39)	A501T	probably benign	Het
Wapl	C	T	14: 34,446,726 (GRCm39)	P605S	probably damaging	Het
Zfp598	A	G	17: 24,898,623 (GRCm39)	N474S	probably benign	Het
Zfyve26	A	G	12: 79,321,694 (GRCm39)	L975P	probably damaging	Het
Zp3r	C	T	1: 130,519,181 (GRCm39)	G255D	probably damaging	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
R0366:Ackr2	UTSW	9	121,738,426 (GRCm39)	missense	probably damaging	1.00
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'- AGGACAGGCTCGTGTCTCAGTTTC -3'
(R):5'- TCCAGGCTCATGCAGGTGATGAAG -3'

Sequencing Primer
(F):5'- tgatgcttctgcttctgcc -3'
(R):5'- AGAGTGCTTATCACCTTGCACAG -3'

Posted On

2014-02-18