Mutagenetix > Incidental Mutation

Incidental Mutation 'RF001:Gpc5'

602524

Institutional Source

Beutler Lab

Gene Symbol

Gpc5

Ensembl Gene

ENSMUSG00000022112

Gene Name

glypican 5

Synonyms

A230034F01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115092215-116525179 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115417178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 470 (S470N)

Ref Sequence

ENSEMBL: ENSMUSP00000135857 (fasta)

Gene Model

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

AlphaFold

Q8CAL5

Predicted Effect

probably benign
Transcript: ENSMUST00000022707

SMART Domains

Protein: ENSMUSP00000022707
Gene: ENSMUSG00000022112

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175665
AA Change: S470N

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135857
Gene: ENSMUSG00000022112
AA Change: S470N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176912

SMART Domains

Protein: ENSMUSP00000135085
Gene: ENSMUSG00000022112

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	G	GTGGCTGCTA	1: 82,913,590		probably benign	Het
Acer1	A	G	17: 56,958,909	V122A	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,921		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,643,571		probably benign	Het
Atp13a1	C	A	8: 69,800,070	A680D	probably damaging	Het
Blm	CGCCTCCTCCTC	CGCCTCCTCCTCAGCCTCCTCCTC	7: 80,512,903		probably benign	Het
Blm	CTCCTCCTCCTCCTCCTCCTCCTC	CTCCTCCTCCTCATCCTCCTCCTCCTCCTCCTCCTC	7: 80,512,906		probably benign	Het
Blm	CTCCTCC	CTCCTCCTCCTCGTCCTCC	7: 80,512,927		probably benign	Het
Cad	GT	G	5: 31,060,212		probably benign	Het
Calhm1	GC	GCTGTGGCTGTGTC	19: 47,141,276		probably benign	Het
Casz1	CACA	C	4: 148,952,304		probably benign	Het
Cherp	GACCTGGA	G	8: 72,462,049		probably null	Het
Chga	AGC	AGCTGC	12: 102,561,423		probably benign	Het
Coq7	A	G	7: 118,533,182	S24P	probably benign	Het
Cul1	T	C	6: 47,524,581	V734A	possibly damaging	Het
Cyb5r4	GCCCAGGGATGTGACAGACACACT	GCCCAGGGATGTGACAGACACACTCCCCAGGGATGTGACAGACACACT	9: 87,040,416		probably benign	Het
Dgkz	A	T	2: 91,939,941	F521I	possibly damaging	Het
Fam171b	GCAGCA	GCAGCATCAGCA	2: 83,812,886		probably benign	Het
Fat1	T	G	8: 44,988,966	S1102A	probably benign	Het
Gab3	CTT	CTTTTT	X: 75,000,018		probably benign	Het
Gm14412	T	C	2: 177,317,101	I52V	probably benign	Het
Gm5346	T	G	8: 43,626,905	D94A	possibly damaging	Het
Gm5414	T	C	15: 101,627,953	E79G	probably benign	Het
Grin2b	A	G	6: 136,044,240	V21A	probably benign	Het
Hecw1	C	A	13: 14,297,424	C553F	probably damaging	Het
Hsd3b6	T	A	3: 98,806,440	H181L	probably benign	Het
Il2	CCAGGTGCTGCTGC	CC	3: 37,125,762		probably benign	Het
Inpp5f	G	A	7: 128,695,083	G1053R	probably damaging	Het
Kcnma1	T	G	14: 23,311,697	Y1142S	probably damaging	Het
Kctd8	T	C	5: 69,110,432	K445R	possibly damaging	Het
Kmt2b	CC	CCTCCTTC	7: 30,586,382		probably benign	Het
Kmt2c	TG	TGTTGCGG	5: 25,315,775		probably benign	Het
Krtap28-10	CACAGCCACAGCCACCACAGCCACAGCCAC	CACAGCCACAGCCACAACAGCCACAGCCACCACAGCCACAGCCAC	1: 83,042,255		probably benign	Het
Krtap28-10	GCCACCACAGC	GCCACCACAGCCACATCCACCACAGC	1: 83,042,280		probably benign	Het
Krtap28-10	CACCAC	CACCACCGCCACCGCAACCAC	1: 83,042,282		probably benign	Het
Lama1	A	G	17: 67,752,902	D662G		Het
Lce1m	AC	ACTGCTGCTGCCCC	3: 93,018,152		probably benign	Het
Lce1m	GCTGCCACC	GCTGCCACCACTCCTGCCACC	3: 93,018,269		probably benign	Het
Lmo4	A	C	3: 144,201,862	S63A	possibly damaging	Het
Lrrk2	T	C	15: 91,736,633	I952T	probably benign	Het
Lyst	T	C	13: 13,635,841	F699L	probably benign	Het
Matn3	T	A	12: 8,958,797	D303E	probably benign	Het
Me1	A	G	9: 86,582,823	Y545H	probably damaging	Het
Mettl3	A	T	14: 52,300,299	V68E	probably benign	Het
Mptx2	T	C	1: 173,274,969	N51S	probably benign	Het
Mylk	A	G	16: 34,879,371	D368G	probably benign	Het
Myom2	T	C	8: 15,081,418	V372A	possibly damaging	Het
Neb	T	C	2: 52,195,421	D5569G	probably damaging	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGCGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,030		probably benign	Het
P4ha2	CCAGGTG	C	11: 54,110,235		probably benign	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Rbm12	CC	CCGGGTATTGTGGGACCAGTTATTGCGGGAGC	2: 156,096,075		probably benign	Het
Sertad4	T	C	1: 192,847,178	Y110C	probably damaging	Het
Setd1a	GGTAGTGGT	GGTAGTGGTAGTAGTGGT	7: 127,785,314		probably benign	Het
Smarca2	ACA	ACAACAGCA	19: 26,630,986		probably benign	Het
Smarca2	AGC	AGCCCCGGC	19: 26,631,021		probably benign	Het
Supt20	AGCA	AGCACCCGCA	3: 54,727,662		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,835,739		probably benign	Het
Tecpr1	A	G	5: 144,217,386	F83S	probably damaging	Het
Triobp	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	GCGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACAGCCCCAGGACTCCCTGTGCCCAACGGGACA	15: 78,967,027		probably benign	Het
Vmn1r48	A	T	6: 90,036,204	M213K	probably benign	Het
Zc3h4	CCC	CCCTGACATGCATCC	7: 16,429,687		probably benign	Het
Zscan29	T	C	2: 121,163,996	N503D	possibly damaging	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
R7544:Gpc5	UTSW	14	115428173	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
R8983:Gpc5	UTSW	14	115092686	missense	unknown
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'- CAAGATCTTCTAACTTTCCACTGCATG -3'
(R):5'- CAGAAATTGTAGCTGCTACATAACC -3'

Sequencing Primer
(F):5'- TGGGTTGTCCACACCCATAG -3'
(R):5'- ATGTAAAGTGAGTCCGTAGTCTGAC -3'

Posted On

2019-12-04