Mutagenetix > Incidental Mutations

Incidental Mutation 'R7544:Gpc5'

584114

Institutional Source

Beutler Lab

Gene Symbol

Gpc5

Ensembl Gene

ENSMUSG00000022112

Gene Name

glypican 5

Synonyms

A230034F01Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7544 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115092215-116525179 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115428173 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 470 (F470L)

Ref Sequence

ENSEMBL: ENSMUSP00000135085 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022707
AA Change: F397L

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022707
Gene: ENSMUSG00000022112
AA Change: F397L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176912
AA Change: F470L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135085
Gene: ENSMUSG00000022112
AA Change: F470L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	G	A	17: 28,905,324	R335W	probably damaging	Het
4933427D14Rik	C	T	11: 72,198,939	V40I	probably damaging	Het
Abcb11	T	C	2: 69,265,486	K837E	probably benign	Het
Arhgef10	T	C	8: 14,979,854	S919P	probably benign	Het
Atxn2	T	C	5: 121,781,368	S530P	probably damaging	Het
Bicc1	T	C	10: 70,956,374	E268G	possibly damaging	Het
Capn7	T	G	14: 31,340,050	L40V	probably damaging	Het
Cd28	A	T	1: 60,769,700	N191I	probably damaging	Het
Cfap69	G	A	5: 5,595,936	T588M	not run	Het
Csmd1	T	C	8: 16,092,296	E1531G	probably damaging	Het
Cyp4a14	T	A	4: 115,491,086	D398V	probably damaging	Het
Dchs2	T	C	3: 83,355,127	S2901P	probably damaging	Het
Ddx11	G	A	17: 66,126,285	G37S	probably damaging	Het
Diaph1	A	T	18: 37,893,269		probably null	Het
Ech1	T	C	7: 28,825,967	V49A	probably benign	Het
Elovl4	T	C	9: 83,783,218	Y196C	probably damaging	Het
Ern2	G	A	7: 122,173,199	L679F	probably benign	Het
Fbf1	A	T	11: 116,165,833	M17K	probably benign	Het
Flvcr1	C	A	1: 191,025,946	G50W	probably damaging	Het
Fryl	A	G	5: 73,081,039	S1455P	probably benign	Het
Fzd9	A	G	5: 135,249,862	Y390H	probably damaging	Het
Gm10436	T	A	12: 88,176,080	Y451F	probably benign	Het
Gm12800	T	C	4: 101,911,402	S317P	possibly damaging	Het
Gm884	T	C	11: 103,615,448	E1898G	probably benign	Het
Gnai3	C	T	3: 108,118,386	V126M		Het
Grin1	T	C	2: 25,305,074	N332S	probably benign	Het
Gtf3c5	T	A	2: 28,579,542	I117F	possibly damaging	Het
Hydin	A	T	8: 110,589,525	S4350C	probably benign	Het
Kcnh4	G	T	11: 100,757,080	H152Q	probably benign	Het
Kcnk12	A	T	17: 87,746,065	S390T	possibly damaging	Het
Klra9	T	G	6: 130,191,220	T28P	probably benign	Het
Lef1	T	A	3: 131,194,765	I327N	probably damaging	Het
Lin54	A	G	5: 100,485,270	V185A	possibly damaging	Het
Lrrc4b	A	T	7: 44,462,551	I616F	probably damaging	Het
Mad2l1bp	A	G	17: 46,152,844	Y85H	possibly damaging	Het
Mars	T	C	10: 127,311,610	E7G	probably benign	Het
Mpnd	G	A	17: 56,011,666	R225H	probably benign	Het
Muc4	T	A	16: 32,736,198	M1K	probably null	Het
Nckap5	A	G	1: 126,026,211	L868S	possibly damaging	Het
Ndst1	G	A	18: 60,697,184	T618M	probably damaging	Het
Npas1	A	T	7: 16,460,974		probably null	Het
Nr2f2	A	T	7: 70,354,751	V384D	probably damaging	Het
Olfr1208	T	A	2: 88,897,361	I79F	probably damaging	Het
Olfr378	A	G	11: 73,425,770	L71P	probably damaging	Het
Olfr516	A	G	7: 108,845,321	S230P	probably benign	Het
Paip1	T	A	13: 119,445,801	F188I	probably damaging	Het
Pcdha4	A	T	18: 36,953,723	I320L	probably benign	Het
Peg10	TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC	T	6: 4,756,427		probably null	Het
Pgpep1	C	T	8: 70,650,518	G110R	unknown	Het
Pidd1	T	A	7: 141,440,339	H558L	possibly damaging	Het
Ppp1r1a	C	T	15: 103,531,349		probably null	Het
Prkcg	A	G	7: 3,310,565	D96G	probably benign	Het
Prpf40b	A	G	15: 99,306,018	N154S	probably benign	Het
Psg17	A	G	7: 18,819,972	Y118H	probably benign	Het
Ptpn12	A	G	5: 21,009,511	I209T	probably damaging	Het
Reln	T	A	5: 21,976,278	K1835*	probably null	Het
Sf3b3	T	C	8: 110,838,283	M298V	probably benign	Het
Slc5a3	T	A	16: 92,077,794	N246K	probably benign	Het
Slmap	T	A	14: 26,429,846	E522D	probably damaging	Het
Slmap	C	T	14: 26,429,848	E522K	probably damaging	Het
Tcp10c	T	A	17: 13,360,998	L230Q	probably damaging	Het
Tdo2	A	G	3: 81,971,635		probably null	Het
Tet3	A	T	6: 83,404,641	W182R	probably damaging	Het
Tmem151a	T	A	19: 5,071,867	M35L	unknown	Het
Tom1l2	TTGATGATG	TTGATG	11: 60,280,214		probably benign	Het
Trak2	A	T	1: 58,921,068		probably null	Het
Trappc11	T	A	8: 47,522,414	E256D	possibly damaging	Het
Trim62	C	T	4: 128,902,553	T281I	probably benign	Het
Trip13	T	C	13: 73,932,902	E115G	probably benign	Het
Trp63	A	G	16: 25,802,087	T10A	probably benign	Het
Urah	A	T	7: 140,835,652	H11L	probably damaging	Het
Usp39	G	A	6: 72,342,908	T109I	probably damaging	Het
Wfikkn2	T	C	11: 94,237,912	T468A	probably benign	Het
Zfhx4	T	G	3: 5,412,815	S3497A	probably damaging	Het
Zfp85	C	T	13: 67,749,065	R296H	probably benign	Het

Other mutations in Gpc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Gpc5	APN	14	115370024	missense	probably damaging	1.00
IGL01298:Gpc5	APN	14	115399188	missense	probably benign	0.14
IGL01359:Gpc5	APN	14	115369750	missense	possibly damaging	0.74
IGL02354:Gpc5	APN	14	115133287	nonsense	probably null
IGL02361:Gpc5	APN	14	115133287	nonsense	probably null
IGL02982:Gpc5	APN	14	115369988	missense	probably damaging	1.00
IGL03120:Gpc5	APN	14	115370144	missense	possibly damaging	0.64
R0322:Gpc5	UTSW	14	115399151	missense	probably benign	0.05
R0396:Gpc5	UTSW	14	115428208	missense	possibly damaging	0.91
R0555:Gpc5	UTSW	14	115552328	missense	probably damaging	0.98
R0629:Gpc5	UTSW	14	115552239	missense	possibly damaging	0.94
R1536:Gpc5	UTSW	14	115399250	missense	probably benign	0.09
R1660:Gpc5	UTSW	14	115399279	missense	probably benign	0.12
R1676:Gpc5	UTSW	14	115370098	missense	probably damaging	1.00
R2328:Gpc5	UTSW	14	115788179	missense	probably damaging	0.99
R3522:Gpc5	UTSW	14	116524335	missense	probably benign	0.00
R3776:Gpc5	UTSW	14	115370060	missense	probably benign	0.05
R3885:Gpc5	UTSW	14	115370060	missense	probably benign	0.05
R3889:Gpc5	UTSW	14	115370060	missense	probably benign	0.05
R3893:Gpc5	UTSW	14	115370060	missense	probably benign	0.05
R4041:Gpc5	UTSW	14	115133216	missense	probably damaging	1.00
R4517:Gpc5	UTSW	14	115552239	missense	possibly damaging	0.94
R5068:Gpc5	UTSW	14	115417264	makesense	probably null
R5639:Gpc5	UTSW	14	115092747	missense	probably benign	0.13
R5730:Gpc5	UTSW	14	115788314	missense	possibly damaging	0.73
R5944:Gpc5	UTSW	14	115369838	missense	probably benign	0.24
R6351:Gpc5	UTSW	14	115399200	missense	probably benign	0.01
R6557:Gpc5	UTSW	14	115092534	unclassified	probably benign
R6657:Gpc5	UTSW	14	115370198	missense	probably benign	0.01
R6714:Gpc5	UTSW	14	115552303	nonsense	probably null
R6751:Gpc5	UTSW	14	115369951	missense	probably benign	0.00
R7057:Gpc5	UTSW	14	115133242	missense	possibly damaging	0.64
R7142:Gpc5	UTSW	14	115417203	missense	probably benign	0.01
R7225:Gpc5	UTSW	14	115552298	missense	probably damaging	1.00
R7658:Gpc5	UTSW	14	115428208	missense	possibly damaging	0.91
R7695:Gpc5	UTSW	14	115092594	missense	unknown
R7785:Gpc5	UTSW	14	115417220	missense	probably benign	0.00
R8116:Gpc5	UTSW	14	115399225	missense	probably damaging	0.98
R8303:Gpc5	UTSW	14	115428255	missense	probably benign	0.01
RF001:Gpc5	UTSW	14	115417178	missense	probably benign	0.41
RF022:Gpc5	UTSW	14	115552276	missense	probably damaging	1.00
Z1176:Gpc5	UTSW	14	115369964	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGCCAATAACTAGGGAGCAGC -3'
(R):5'- CCTCAAACCTGTGCTGTAAAG -3'

Sequencing Primer
(F):5'- AGGTGCATGGTATTTAATAATGTCTG -3'
(R):5'- GCTGTAAAGTAACATTAAGCATCCG -3'

Posted On

2019-10-17