Mutagenetix > Incidental Mutation

Incidental Mutation 'R5616:Gpr33'

439543

Institutional Source

Beutler Lab

Gene Symbol

Gpr33

Ensembl Gene

ENSMUSG00000035148

Gene Name

G protein-coupled receptor 33

Synonyms

MMRRC Submission

043159-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52069786-52074846 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52070377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 221 (I221V)

Ref Sequence

ENSEMBL: ENSMUSP00000048059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040161]

AlphaFold

O88416

Predicted Effect

probably damaging
Transcript: ENSMUST00000040161
AA Change: I221V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048059
Gene: ENSMUSG00000035148
AA Change: I221V

Domain	Start	End	E-Value	Type
Pfam:7tm_1	46	299	3.6e-32	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been identified as an orphan chemoattractant G-protein-coupled receptors (GPCR) pseudogene. Studies have shown that the inactivated gene is present as the predominant allele in the human population. A small fraction of the human population has been found to harbor an intact allele.[provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	T	3: 121,566,009 (GRCm39)	D443E	probably benign	Het
Arhgef5	A	G	6: 43,252,874 (GRCm39)	D1037G	probably benign	Het
B3glct	T	A	5: 149,653,399 (GRCm39)	L148*	probably null	Het
Cacna1e	G	A	1: 154,317,940 (GRCm39)	P1481S	probably damaging	Het
Cacna1h	C	A	17: 25,596,641 (GRCm39)	R117L	probably damaging	Het
Cct6b	A	T	11: 82,632,175 (GRCm39)	V271E	probably damaging	Het
Cenpf	A	G	1: 189,389,483 (GRCm39)	S1450P	probably damaging	Het
Cul1	G	A	6: 47,500,722 (GRCm39)	R707H	probably damaging	Het
Dcakd	A	G	11: 102,885,831 (GRCm39)	L191P	possibly damaging	Het
Dhx32	T	C	7: 133,322,957 (GRCm39)	*612W	probably null	Het
Disp1	T	A	1: 182,869,913 (GRCm39)	T836S	probably benign	Het
Dppa4	T	A	16: 48,111,393 (GRCm39)	V126D	probably damaging	Het
Fam98b	A	G	2: 117,098,267 (GRCm39)	T246A	possibly damaging	Het
Fkbp4	A	T	6: 128,410,517 (GRCm39)	V273E	probably damaging	Het
Gpr31b	A	G	17: 13,270,831 (GRCm39)	Y113H	probably damaging	Het
Klhl1	A	G	14: 96,755,729 (GRCm39)	F9L	probably benign	Het
Larp4b	T	A	13: 9,208,695 (GRCm39)	N449K	probably damaging	Het
Loxhd1	T	C	18: 77,492,647 (GRCm39)	S1363P	probably damaging	Het
Lrrc8a	T	C	2: 30,145,366 (GRCm39)	V60A	probably benign	Het
Matn3	A	G	12: 8,998,195 (GRCm39)	H51R	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtrf1	T	C	14: 79,638,885 (GRCm39)	C6R	possibly damaging	Het
Myh6	T	C	14: 55,194,038 (GRCm39)	S784G	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nipal3	T	C	4: 135,179,715 (GRCm39)	Y401C	probably benign	Het
Pcdhb20	A	G	18: 37,637,585 (GRCm39)	E37G	probably damaging	Het
Pelp1	G	A	11: 70,285,688 (GRCm39)	P727S	possibly damaging	Het
Prkca	T	C	11: 107,869,169 (GRCm39)	D472G	possibly damaging	Het
Ptprg	A	G	14: 12,122,120 (GRCm38)	H328R	probably benign	Het
Rtl1	C	T	12: 109,559,173 (GRCm39)	E889K	unknown	Het
Rubcn	T	C	16: 32,647,293 (GRCm39)	D715G	possibly damaging	Het
Snurf	C	T	7: 59,649,133 (GRCm39)	E15K	possibly damaging	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Srp72	T	G	5: 77,135,781 (GRCm39)	L237R	probably damaging	Het
Syne3	T	C	12: 104,921,937 (GRCm39)	E406G	probably damaging	Het
Tgm2	A	G	2: 157,970,640 (GRCm39)	S340P	probably damaging	Het
Trim41	GCCTAGGCGCCCA	G	11: 48,698,192 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,653,657 (GRCm39)		probably benign	Het
Tsc22d2	G	T	3: 58,324,583 (GRCm39)		probably benign	Het
Vmn1r42	T	C	6: 89,822,084 (GRCm39)	I162V	possibly damaging	Het
Vmn2r59	A	G	7: 41,708,191 (GRCm39)		probably null	Het
Wnt3	T	C	11: 103,703,596 (GRCm39)		probably null	Het

Other mutations in Gpr33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Gpr33	APN	12	52,070,343 (GRCm39)	missense	probably damaging	0.98
IGL02177:Gpr33	APN	12	52,070,863 (GRCm39)	missense	probably benign	0.00
IGL03090:Gpr33	APN	12	52,070,809 (GRCm39)	missense	probably damaging	0.99
R0883:Gpr33	UTSW	12	52,070,418 (GRCm39)	missense	probably benign	0.17
R1112:Gpr33	UTSW	12	52,070,155 (GRCm39)	missense	probably damaging	1.00
R1127:Gpr33	UTSW	12	52,070,252 (GRCm39)	missense	probably damaging	1.00
R1742:Gpr33	UTSW	12	52,071,045 (GRCm39)	critical splice acceptor site	probably null
R1967:Gpr33	UTSW	12	52,070,991 (GRCm39)	missense	probably benign
R2208:Gpr33	UTSW	12	52,070,236 (GRCm39)	missense	probably benign	0.00
R2917:Gpr33	UTSW	12	52,070,379 (GRCm39)	missense	possibly damaging	0.63
R4308:Gpr33	UTSW	12	52,070,423 (GRCm39)	nonsense	probably null
R4725:Gpr33	UTSW	12	52,070,892 (GRCm39)	missense	probably damaging	1.00
R7055:Gpr33	UTSW	12	52,071,036 (GRCm39)	start codon destroyed	probably null	0.99
R7272:Gpr33	UTSW	12	52,070,848 (GRCm39)	missense	probably damaging	0.99
R7419:Gpr33	UTSW	12	52,070,050 (GRCm39)	missense	probably benign	0.00
R8313:Gpr33	UTSW	12	52,070,907 (GRCm39)	missense	probably benign	0.00
R8514:Gpr33	UTSW	12	52,070,181 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TGCAAGTCCCAGTGTCAAGTG -3'
(R):5'- AAATCTGGATTTCTGCCACTATCC -3'

Sequencing Primer
(F):5'- TCCCAGTGTCAAGTGTAAAGG -3'
(R):5'- GCATACCCTATTTAGTTTTCAGGAC -3'

Posted On

2016-11-08