Mutagenetix > Incidental Mutation

Incidental Mutation 'R5047:Gpr63'

394407

Institutional Source

Beutler Lab

Gene Symbol

Gpr63

Ensembl Gene

ENSMUSG00000040372

Gene Name

G protein-coupled receptor 63

Synonyms

PSP24beta

MMRRC Submission

042637-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5047 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24966407-25009233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25008202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 309 (S309G)

Ref Sequence

ENSEMBL: ENSMUSP00000039312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038920]

AlphaFold

Q9EQQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000038920
AA Change: S309G

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039312
Gene: ENSMUSG00000040372
AA Change: S309G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	98	392	1.3e-8	PFAM
Pfam:7tm_1	104	377	1.9e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124792

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151006

Meta Mutation Damage Score

0.0871

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

96% (49/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503E14Rik	A	T	14: 44,406,698 (GRCm39)	M117K	possibly damaging	Het
Adamts13	G	A	2: 26,886,922 (GRCm39)	A1020T	probably damaging	Het
Armh4	G	T	14: 50,007,895 (GRCm39)	A526D	probably damaging	Het
Atg3	C	A	16: 44,998,595 (GRCm39)	D132E	probably benign	Het
Blzf1	A	G	1: 164,134,037 (GRCm39)	M4T	possibly damaging	Het
Cdon	G	A	9: 35,389,935 (GRCm39)	R863Q	probably damaging	Het
Cyp2d40	C	T	15: 82,644,460 (GRCm39)	R255H	unknown	Het
Evi5	T	C	5: 107,969,740 (GRCm39)	K57R	probably damaging	Het
Fam186b	T	C	15: 99,178,567 (GRCm39)	E253G	probably damaging	Het
Fcgr1	A	T	3: 96,193,200 (GRCm39)	F266I	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gm10142	G	T	10: 77,551,996 (GRCm39)	C119F	probably damaging	Het
Herc3	C	T	6: 58,832,745 (GRCm39)	Q137*	probably null	Het
Jmy	T	A	13: 93,578,080 (GRCm39)	H696L	possibly damaging	Het
Kif13a	T	C	13: 46,941,561 (GRCm39)	H972R	probably benign	Het
Lama1	C	T	17: 68,050,276 (GRCm39)	Q296*	probably null	Het
Lmf1	C	T	17: 25,850,812 (GRCm39)		probably benign	Het
Lpp	T	C	16: 24,790,596 (GRCm39)	C352R	probably damaging	Het
Ltbp1	T	C	17: 75,599,881 (GRCm39)		probably benign	Het
Maml3	G	T	3: 51,598,262 (GRCm39)	D807E	possibly damaging	Het
Mdc1	T	A	17: 36,158,736 (GRCm39)	V372D	probably benign	Het
Mst1	C	A	9: 107,961,508 (GRCm39)	H579Q	probably benign	Het
Or11g24	T	C	14: 50,662,696 (GRCm39)	F240S	probably damaging	Het
Or1r1	T	C	11: 73,875,204 (GRCm39)	T77A	probably damaging	Het
Or4a39	A	G	2: 89,237,057 (GRCm39)	V122A	probably damaging	Het
Or8d1	G	A	9: 38,766,585 (GRCm39)	V76I	probably benign	Het
Pcdhb22	G	T	18: 37,652,179 (GRCm39)	G216C	probably damaging	Het
Phlpp2	A	T	8: 110,640,251 (GRCm39)	H472L	probably benign	Het
Plscr3	A	G	11: 69,740,917 (GRCm39)		probably null	Het
Rab7	A	T	6: 87,982,205 (GRCm39)		probably null	Het
Rad50	A	G	11: 53,565,523 (GRCm39)		probably null	Het
Scgb1b20	A	G	7: 33,072,737 (GRCm39)		probably null	Het
Scn9a	A	C	2: 66,392,824 (GRCm39)	L256R	probably damaging	Het
Spag1	G	T	15: 36,195,588 (GRCm39)	Q260H	probably damaging	Het
Tatdn3	T	A	1: 190,778,475 (GRCm39)	I239F	probably damaging	Het
Tcof1	A	G	18: 60,964,986 (GRCm39)	S578P	possibly damaging	Het
Top3b	A	G	16: 16,709,282 (GRCm39)	T657A	probably benign	Het
Tstd3	A	G	4: 21,759,621 (GRCm39)		probably null	Het
Ttc4	A	T	4: 106,525,435 (GRCm39)	L233H	probably damaging	Het
Vmn2r130	T	A	17: 23,282,794 (GRCm39)	M158K	probably benign	Het
Yeats2	A	T	16: 20,027,215 (GRCm39)	Q822L	probably damaging	Het
Zfp976	A	T	7: 42,262,843 (GRCm39)	C331*	probably null	Het

Other mutations in Gpr63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Gpr63	APN	4	25,008,445 (GRCm39)	missense	possibly damaging	0.78
IGL01673:Gpr63	APN	4	25,008,014 (GRCm39)	missense	probably benign	0.04
IGL01861:Gpr63	APN	4	25,008,545 (GRCm39)	missense	probably damaging	0.98
IGL02082:Gpr63	APN	4	25,008,564 (GRCm39)	utr 3 prime	probably benign
R0003:Gpr63	UTSW	4	25,007,651 (GRCm39)	missense	probably damaging	1.00
R0554:Gpr63	UTSW	4	25,007,447 (GRCm39)	missense	probably benign
R0729:Gpr63	UTSW	4	25,007,480 (GRCm39)	missense	probably benign	0.02
R1506:Gpr63	UTSW	4	25,008,227 (GRCm39)	missense	probably damaging	1.00
R3103:Gpr63	UTSW	4	25,007,353 (GRCm39)	missense	probably benign	0.00
R3694:Gpr63	UTSW	4	25,007,993 (GRCm39)	missense	probably damaging	1.00
R4021:Gpr63	UTSW	4	25,008,470 (GRCm39)	missense	possibly damaging	0.77
R4807:Gpr63	UTSW	4	25,007,446 (GRCm39)	missense	probably benign
R4967:Gpr63	UTSW	4	25,008,368 (GRCm39)	nonsense	probably null
R5325:Gpr63	UTSW	4	25,007,294 (GRCm39)	missense	probably benign	0.00
R5382:Gpr63	UTSW	4	25,007,952 (GRCm39)	missense	probably benign
R7047:Gpr63	UTSW	4	25,007,320 (GRCm39)	missense	probably benign	0.00
R7216:Gpr63	UTSW	4	25,008,038 (GRCm39)	missense	probably damaging	1.00
R8317:Gpr63	UTSW	4	25,008,223 (GRCm39)	missense	probably damaging	1.00
R8387:Gpr63	UTSW	4	25,008,301 (GRCm39)	missense	possibly damaging	0.64
R8989:Gpr63	UTSW	4	25,007,357 (GRCm39)	missense	possibly damaging	0.68
R9324:Gpr63	UTSW	4	25,008,432 (GRCm39)	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- ACAGTGCGTGTTTGGATACAC -3'
(R):5'- AGACTTGAGGTAGCAGAGCC -3'

Sequencing Primer
(F):5'- TGGATACACAACCAATTCTGGATAC -3'
(R):5'- AGCCAGAGTAGCCAGGTGC -3'

Posted On

2016-06-15