Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01331:Gpr55'

74510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpr55

Ensembl Gene

ENSMUSG00000049608

Gene Name

G protein-coupled receptor 55

Synonyms

CTFL, LOC227326

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01331

Quality Score

Status

Chromosome

Chromosomal Location

85866039-85888729 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 85868915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086975] [ENSMUST00000129392]

AlphaFold

Q3UJF0

Predicted Effect

unknown
Transcript: ENSMUST00000086975
AA Change: D222V

SMART Domains

Protein: ENSMUSP00000084196
Gene: ENSMUSG00000049608
AA Change: D222V

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	27	183	9.7e-9	PFAM
Pfam:7tm_1	37	296	2.7e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190367

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 belongs to the G-protein-coupled receptor superfamily. The encoded integral membrane protein is a likely cannabinoid receptor. It may be involved in several physiological and pathological processes by activating a variety of signal transduction pathways. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased bone volume due to impaired osteoclast function in male mice. Female mice exhibit a milder phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Clca3a1	G	A	3: 144,453,273 (GRCm39)	T517M	probably damaging	Het
Clec4g	T	C	8: 3,767,190 (GRCm39)		probably benign	Het
Cmya5	C	T	13: 93,233,454 (GRCm39)	E545K	possibly damaging	Het
Cntn6	A	T	6: 104,751,484 (GRCm39)	D380V	probably damaging	Het
Col9a2	C	T	4: 120,902,389 (GRCm39)	P209S	possibly damaging	Het
Cyp2b9	T	C	7: 25,887,140 (GRCm39)	V183A	probably damaging	Het
Dpt	T	C	1: 164,624,379 (GRCm39)	Y27H	unknown	Het
Dusp16	T	C	6: 134,695,067 (GRCm39)	Q588R	possibly damaging	Het
Emg1	A	G	6: 124,682,033 (GRCm39)	S164P	probably benign	Het
Foxk1	G	A	5: 142,439,344 (GRCm39)	R428Q	probably damaging	Het
Frmd4a	T	A	2: 4,607,036 (GRCm39)	M667K	probably benign	Het
Gtpbp8	A	G	16: 44,560,494 (GRCm39)	I162T	probably benign	Het
Ighv1-59	C	T	12: 115,298,992 (GRCm39)	V21I	possibly damaging	Het
Ipo11	T	A	13: 106,932,254 (GRCm39)	Y938F	possibly damaging	Het
Map4	G	T	9: 109,863,869 (GRCm39)	V365L	probably benign	Het
Mboat1	C	A	13: 30,403,684 (GRCm39)		probably benign	Het
Med12	A	G	X: 100,324,360 (GRCm39)	E649G	possibly damaging	Het
Nfkbie	T	C	17: 45,869,495 (GRCm39)	V150A	probably benign	Het
Or51ai2	A	G	7: 103,586,782 (GRCm39)	Y65C	possibly damaging	Het
Or8k22	A	C	2: 86,163,048 (GRCm39)	Y217*	probably null	Het
Prdm1	T	A	10: 44,317,970 (GRCm39)	K299N	possibly damaging	Het
Ribc1	T	C	X: 150,788,102 (GRCm39)	T291A	probably benign	Het
Rps6kc1	G	T	1: 190,532,549 (GRCm39)	N484K	possibly damaging	Het
Serpina3k	C	A	12: 104,309,369 (GRCm39)	A271D	probably benign	Het
Spata18	G	T	5: 73,827,024 (GRCm39)	R321L	probably damaging	Het
Styxl2	C	A	1: 165,935,749 (GRCm39)	V150L	probably damaging	Het
Syne2	C	A	12: 75,976,027 (GRCm39)		probably benign	Het
Syt17	T	A	7: 118,007,389 (GRCm39)	I302F	probably damaging	Het
Tgm6	A	G	2: 129,985,538 (GRCm39)		probably null	Het
Tmc2	A	G	2: 130,074,276 (GRCm39)	Y323C	probably damaging	Het
Tnc	T	C	4: 63,901,112 (GRCm39)	D1452G	probably damaging	Het
Ttn	A	G	2: 76,620,022 (GRCm39)	I7555T	probably damaging	Het
Ugt2b36	A	T	5: 87,238,801 (GRCm39)	W131R	probably damaging	Het
Vmn2r75	A	T	7: 85,820,870 (GRCm39)	C21*	probably null	Het
Zfp592	T	A	7: 80,691,296 (GRCm39)	C1158*	probably null	Het

Other mutations in Gpr55

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02087:Gpr55	APN	1	85,868,969 (GRCm39)	missense	probably damaging	1.00
IGL03296:Gpr55	APN	1	85,868,753 (GRCm39)	missense	probably damaging	0.98
R0119:Gpr55	UTSW	1	85,869,146 (GRCm39)	nonsense	probably null
R0166:Gpr55	UTSW	1	85,868,858 (GRCm39)	missense	probably benign	0.01
R0529:Gpr55	UTSW	1	85,869,225 (GRCm39)	missense	probably benign	0.00
R0664:Gpr55	UTSW	1	85,868,739 (GRCm39)	missense	probably benign	0.30
R1670:Gpr55	UTSW	1	85,869,137 (GRCm39)	missense	possibly damaging	0.91
R4490:Gpr55	UTSW	1	85,869,540 (GRCm39)	missense	probably damaging	1.00
R7719:Gpr55	UTSW	1	85,869,059 (GRCm39)	missense	probably benign	0.00
R8049:Gpr55	UTSW	1	85,869,419 (GRCm39)	missense	probably benign	0.00
R8371:Gpr55	UTSW	1	85,868,849 (GRCm39)	missense	probably damaging	1.00
R9017:Gpr55	UTSW	1	85,868,624 (GRCm39)	missense	probably benign	0.00
R9480:Gpr55	UTSW	1	85,868,977 (GRCm39)	nonsense	probably null

Posted On

2013-10-07