Mutagenetix > Incidental Mutation

Incidental Mutation 'P0042:Ackr3'

7826

Institutional Source

Beutler Lab

Gene Symbol

Ackr3

Ensembl Gene

ENSMUSG00000044337

Gene Name

atypical chemokine receptor 3

Synonyms

Rdc1, Cxcr7, Cmkor1

MMRRC Submission

038290-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

P0042 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

90131702-90143446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90142600 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 353 (E353G)

Ref Sequence

ENSEMBL: ENSMUSP00000069114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065587] [ENSMUST00000159654]

AlphaFold

P56485

Predicted Effect

probably damaging
Transcript: ENSMUST00000065587
AA Change: E353G

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

SMART Domains

Protein: ENSMUSP00000069114
Gene: ENSMUSG00000044337
AA Change: E353G

Domain	Start	End	E-Value	Type
Pfam:7tm_1	61	315	5.9e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159654

Meta Mutation Damage Score

0.0959

Coding Region Coverage

1x: 81.5%
3x: 74.4%
10x: 52.2%
20x: 29.5%

Validation Efficiency

88% (87/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G-protein coupled receptor family. Although this protein was earlier thought to be a receptor for vasoactive intestinal peptide (VIP), it is now considered to be an orphan receptor, in that its endogenous ligand has not been identified. The protein is also a coreceptor for human immunodeficiency viruses (HIV). Translocations involving this gene and HMGA2 on chromosome 12 have been observed in lipomas. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous null mutations result in perinatal lethality with cardiac defects including semilunar valve defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cercam	T	A	2: 29,771,095 (GRCm39)	D497E	probably damaging	Het
Eif5a	A	T	11: 69,808,728 (GRCm39)		probably benign	Het
Htr4	T	A	18: 62,546,748 (GRCm39)	D100E	probably damaging	Het
Ift172	T	C	5: 31,418,799 (GRCm39)	K1172E	probably benign	Het
Inpp5b	G	A	4: 124,691,703 (GRCm39)		probably null	Het
Klc2	A	G	19: 5,163,805 (GRCm39)		probably benign	Het
Myh13	T	A	11: 67,225,817 (GRCm39)	L332M	probably benign	Het
Naca	T	C	10: 127,877,422 (GRCm39)		probably benign	Het
Oat	A	G	7: 132,164,374 (GRCm39)	V238A	possibly damaging	Het
Rabep1	A	G	11: 70,775,801 (GRCm39)		probably benign	Het
Snx13	A	G	12: 35,157,541 (GRCm39)	D529G	probably damaging	Het
Urod	T	A	4: 116,850,143 (GRCm39)	L23F	probably damaging	Het
Zcchc2	C	T	1: 105,958,727 (GRCm39)	T1066I	possibly damaging	Het

Other mutations in Ackr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Ackr3	APN	1	90,141,856 (GRCm39)	missense	probably benign	0.03
R0616:Ackr3	UTSW	1	90,142,191 (GRCm39)	missense	probably benign	0.00
R1792:Ackr3	UTSW	1	90,142,620 (GRCm39)	missense	probably benign	0.08
R2074:Ackr3	UTSW	1	90,141,703 (GRCm39)	missense	probably damaging	1.00
R2152:Ackr3	UTSW	1	90,141,565 (GRCm39)	missense	probably benign	0.00
R3839:Ackr3	UTSW	1	90,141,850 (GRCm39)	missense	probably damaging	1.00
R4683:Ackr3	UTSW	1	90,141,709 (GRCm39)	missense	probably damaging	0.96
R5569:Ackr3	UTSW	1	90,142,563 (GRCm39)	missense	probably benign	0.30
R6574:Ackr3	UTSW	1	90,141,790 (GRCm39)	missense	probably damaging	0.96
R7324:Ackr3	UTSW	1	90,141,923 (GRCm39)	missense	probably damaging	1.00
R7939:Ackr3	UTSW	1	90,142,287 (GRCm39)	missense	probably benign	0.31
R8185:Ackr3	UTSW	1	90,141,666 (GRCm39)	missense	probably benign	0.00
R9242:Ackr3	UTSW	1	90,142,558 (GRCm39)	missense	probably damaging	1.00
R9520:Ackr3	UTSW	1	90,141,971 (GRCm39)	nonsense	probably null

Posted On

2012-10-29