Mutagenetix > Incidental Mutation

Incidental Mutation 'R6751:Gpc5'

530802

Institutional Source

Beutler Lab

Gene Symbol

Gpc5

Ensembl Gene

ENSMUSG00000022112

Gene Name

glypican 5

Synonyms

A230034F01Rik

MMRRC Submission

044868-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115329647-116762591 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115607363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 322 (S322G)

Ref Sequence

ENSEMBL: ENSMUSP00000135085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022707] [ENSMUST00000175665] [ENSMUST00000176912]

AlphaFold

Q8CAL5

Predicted Effect

probably benign
Transcript: ENSMUST00000022707
AA Change: S249G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022707
Gene: ENSMUSG00000022112
AA Change: S249G

Domain	Start	End	E-Value	Type
Pfam:Glypican	9	572	1.8e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175665
AA Change: S322G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135857
Gene: ENSMUSG00000022112
AA Change: S322G

Domain	Start	End	E-Value	Type
Pfam:Glypican	82	480	1.3e-142	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176912
AA Change: S322G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000135085
Gene: ENSMUSG00000022112
AA Change: S322G

Domain	Start	End	E-Value	Type
Pfam:Glypican	85	642	1.6e-174	PFAM

Meta Mutation Damage Score

0.0654

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

95% (59/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 137,771,971 (GRCm39)	N387Y	probably damaging	Het
Abhd17a	T	C	10: 80,422,421 (GRCm39)	E87G	probably damaging	Het
Aco1	T	A	4: 40,188,330 (GRCm39)		probably null	Het
Adcy6	T	C	15: 98,494,086 (GRCm39)	N817S	probably benign	Het
Ak8	T	A	2: 28,599,957 (GRCm39)	L63*	probably null	Het
Arhgef28	G	A	13: 98,211,755 (GRCm39)	S76L	probably damaging	Het
Asap1	A	G	15: 63,966,261 (GRCm39)	L891S	possibly damaging	Het
Cacng5	C	A	11: 107,768,379 (GRCm39)	M209I	probably benign	Het
Casr	T	C	16: 36,335,950 (GRCm39)	I120V	probably benign	Het
Ccnq	T	C	11: 78,641,950 (GRCm39)	Y180C	probably damaging	Het
Chd7	T	C	4: 8,833,866 (GRCm39)	Y1207H	probably damaging	Het
Chrnb2	A	T	3: 89,668,883 (GRCm39)	F144Y	probably damaging	Het
Cyp4a14	T	A	4: 115,348,391 (GRCm39)	H362L	probably damaging	Het
Dnaaf4	A	G	9: 72,869,257 (GRCm39)	T156A	probably benign	Het
Dym	G	A	18: 75,419,718 (GRCm39)	V630M	probably damaging	Het
Dync2i1	A	T	12: 116,177,076 (GRCm39)	V842E	possibly damaging	Het
Dyrk1b	C	A	7: 27,886,134 (GRCm39)	P619Q	probably damaging	Het
Eml5	T	C	12: 98,831,659 (GRCm39)	D433G	probably damaging	Het
Frem2	A	T	3: 53,561,086 (GRCm39)	S1140R	probably damaging	Het
Gabra5	T	C	7: 57,068,082 (GRCm39)	R255G	probably damaging	Het
Galnt17	T	A	5: 131,110,428 (GRCm39)	I304F	probably damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,610,269 (GRCm39)	N1467Y	probably damaging	Het
Ifna6	T	C	4: 88,745,987 (GRCm39)	L112P	probably damaging	Het
Ifrd1	C	T	12: 40,253,913 (GRCm39)		probably null	Het
Il17f	A	G	1: 20,849,713 (GRCm39)	M17T	probably benign	Het
Itga11	G	A	9: 62,675,866 (GRCm39)	V892I	probably benign	Het
Nckap5l	A	G	15: 99,321,042 (GRCm39)	L1246P	probably damaging	Het
Nlrp4f	A	T	13: 65,342,243 (GRCm39)	H467Q	probably damaging	Het
Ntng2	A	G	2: 29,118,055 (GRCm39)	V131A	possibly damaging	Het
Or51r1	G	A	7: 102,227,706 (GRCm39)	M1I	probably null	Het
Or8b40	T	G	9: 38,027,271 (GRCm39)	Y60D	probably damaging	Het
Or8g37	T	A	9: 39,731,193 (GRCm39)	V86E	probably benign	Het
Or8g55	T	C	9: 39,784,976 (GRCm39)	V135A	probably benign	Het
Osbpl8	T	C	10: 111,110,874 (GRCm39)	Y459H	possibly damaging	Het
Pabpc1	A	T	15: 36,597,778 (GRCm39)	V537D	possibly damaging	Het
Pde4b	A	T	4: 102,459,868 (GRCm39)	M583L	probably damaging	Het
Phlda1	T	C	10: 111,342,555 (GRCm39)	V97A	possibly damaging	Het
Pik3cb	G	T	9: 98,976,574 (GRCm39)	H174Q	probably benign	Het
Plxdc2	A	T	2: 16,552,952 (GRCm39)	I117F	probably benign	Het
Psapl1	C	A	5: 36,362,303 (GRCm39)	C298*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Homo
Rtkn2	T	A	10: 67,877,283 (GRCm39)	F448I	probably benign	Het
Scn10a	T	C	9: 119,500,617 (GRCm39)	R221G	probably damaging	Het
Serpina3c	A	G	12: 104,117,759 (GRCm39)	L193P	probably damaging	Het
Sox12	T	C	2: 152,238,678 (GRCm39)	Y314C	probably damaging	Het
Spata31h1	A	G	10: 82,119,331 (GRCm39)	S4560P	probably benign	Het
Sptbn1	T	C	11: 30,067,859 (GRCm39)	E1772G	probably damaging	Het
Supt6	A	G	11: 78,099,775 (GRCm39)	V1570A	probably benign	Het
Synrg	T	C	11: 83,872,251 (GRCm39)	F125S	probably damaging	Het
Tenm4	A	T	7: 96,494,919 (GRCm39)	I1116F	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfap2d	C	A	1: 19,173,507 (GRCm39)	H10N	possibly damaging	Het
Trpm8	T	C	1: 88,312,428 (GRCm39)	I1103T	possibly damaging	Het
Vmn1r158	C	T	7: 22,489,306 (GRCm39)	C301Y	probably damaging	Het
Vmn2r56	T	C	7: 12,428,719 (GRCm39)	I516V	probably benign	Het
Vmn2r71	G	A	7: 85,269,095 (GRCm39)		probably null	Het
Vnn3	C	T	10: 23,745,523 (GRCm39)	R491C	probably benign	Het
Vps50	A	G	6: 3,600,274 (GRCm39)	Y911C	probably damaging	Het
Zfp772	C	T	7: 7,206,716 (GRCm39)	R325Q	possibly damaging	Het
Zranb3	T	A	1: 127,887,556 (GRCm39)	H957L	probably benign	Het
Zscan20	G	T	4: 128,479,668 (GRCm39)	T941K	probably damaging	Het
Zscan25	T	A	5: 145,227,373 (GRCm39)	F346I	probably damaging	Het

Other mutations in Gpc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Gpc5	APN	14	115,607,436 (GRCm39)	missense	probably damaging	1.00
IGL01298:Gpc5	APN	14	115,636,600 (GRCm39)	missense	probably benign	0.14
IGL01359:Gpc5	APN	14	115,607,162 (GRCm39)	missense	possibly damaging	0.74
IGL02354:Gpc5	APN	14	115,370,699 (GRCm39)	nonsense	probably null
IGL02361:Gpc5	APN	14	115,370,699 (GRCm39)	nonsense	probably null
IGL02982:Gpc5	APN	14	115,607,400 (GRCm39)	missense	probably damaging	1.00
IGL03120:Gpc5	APN	14	115,607,556 (GRCm39)	missense	possibly damaging	0.64
R0322:Gpc5	UTSW	14	115,636,563 (GRCm39)	missense	probably benign	0.05
R0396:Gpc5	UTSW	14	115,665,620 (GRCm39)	missense	possibly damaging	0.91
R0555:Gpc5	UTSW	14	115,789,740 (GRCm39)	missense	probably damaging	0.98
R0629:Gpc5	UTSW	14	115,789,651 (GRCm39)	missense	possibly damaging	0.94
R1536:Gpc5	UTSW	14	115,636,662 (GRCm39)	missense	probably benign	0.09
R1660:Gpc5	UTSW	14	115,636,691 (GRCm39)	missense	probably benign	0.12
R1676:Gpc5	UTSW	14	115,607,510 (GRCm39)	missense	probably damaging	1.00
R2328:Gpc5	UTSW	14	116,025,591 (GRCm39)	missense	probably damaging	0.99
R3522:Gpc5	UTSW	14	116,761,747 (GRCm39)	missense	probably benign	0.00
R3776:Gpc5	UTSW	14	115,607,472 (GRCm39)	missense	probably benign	0.05
R3885:Gpc5	UTSW	14	115,607,472 (GRCm39)	missense	probably benign	0.05
R3889:Gpc5	UTSW	14	115,607,472 (GRCm39)	missense	probably benign	0.05
R3893:Gpc5	UTSW	14	115,607,472 (GRCm39)	missense	probably benign	0.05
R4041:Gpc5	UTSW	14	115,370,628 (GRCm39)	missense	probably damaging	1.00
R4517:Gpc5	UTSW	14	115,789,651 (GRCm39)	missense	possibly damaging	0.94
R5068:Gpc5	UTSW	14	115,654,676 (GRCm39)	makesense	probably null
R5639:Gpc5	UTSW	14	115,330,179 (GRCm39)	missense	probably benign	0.13
R5730:Gpc5	UTSW	14	116,025,726 (GRCm39)	missense	possibly damaging	0.73
R5944:Gpc5	UTSW	14	115,607,250 (GRCm39)	missense	probably benign	0.24
R6351:Gpc5	UTSW	14	115,636,612 (GRCm39)	missense	probably benign	0.01
R6557:Gpc5	UTSW	14	115,329,966 (GRCm39)	unclassified	probably benign
R6657:Gpc5	UTSW	14	115,607,610 (GRCm39)	missense	probably benign	0.01
R6714:Gpc5	UTSW	14	115,789,715 (GRCm39)	nonsense	probably null
R7057:Gpc5	UTSW	14	115,370,654 (GRCm39)	missense	possibly damaging	0.64
R7142:Gpc5	UTSW	14	115,654,615 (GRCm39)	missense	probably benign	0.01
R7225:Gpc5	UTSW	14	115,789,710 (GRCm39)	missense	probably damaging	1.00
R7544:Gpc5	UTSW	14	115,665,585 (GRCm39)	missense	probably damaging	1.00
R7658:Gpc5	UTSW	14	115,665,620 (GRCm39)	missense	possibly damaging	0.91
R7695:Gpc5	UTSW	14	115,330,026 (GRCm39)	missense	unknown
R7785:Gpc5	UTSW	14	115,654,632 (GRCm39)	missense	probably benign	0.00
R8116:Gpc5	UTSW	14	115,636,637 (GRCm39)	missense	probably damaging	0.98
R8303:Gpc5	UTSW	14	115,665,667 (GRCm39)	missense	probably benign	0.01
R8983:Gpc5	UTSW	14	115,330,118 (GRCm39)	missense	unknown
RF001:Gpc5	UTSW	14	115,654,590 (GRCm39)	missense	probably benign	0.41
RF022:Gpc5	UTSW	14	115,789,688 (GRCm39)	missense	probably damaging	1.00
Z1176:Gpc5	UTSW	14	115,607,376 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACCCTGGTGTGACTGAC -3'
(R):5'- TTCAACGTCGTAGGTTCCGTG -3'

Sequencing Primer
(F):5'- AAACCCTGGTGTGACTGACAGTTC -3'
(R):5'- GTGCATCGCATCTGACAACTC -3'

Posted On

2018-08-01