Mutagenetix > Incidental Mutation

Incidental Mutation 'R3749:Gpc1'

310069

Institutional Source

Beutler Lab

Gene Symbol

Gpc1

Ensembl Gene

ENSMUSG00000034220

Gene Name

glypican 1

Synonyms

MMRRC Submission

040734-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3749 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

92759367-92787933 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 92785304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 414 (C414*)

Ref Sequence

ENSEMBL: ENSMUSP00000047199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045970]

AlphaFold

Q9QZF2

Predicted Effect

probably null
Transcript: ENSMUST00000045970
AA Change: C414*

SMART Domains

Protein: ENSMUSP00000047199
Gene: ENSMUSG00000034220
AA Change: C414*

Domain	Start	End	E-Value	Type
Pfam:Glypican	11	553	6.2e-228	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190677

Predicted Effect

probably benign
Transcript: ENSMUST00000212504

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (50/51)

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]
PHENOTYPE: Homozygous mutant mice exhibit a reduced brain size with mild cerebellar patterning defects, but are otherwise viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	T	C	7: 133,774,594 (GRCm39)	D5G	probably damaging	Het
Adam19	A	T	11: 46,028,437 (GRCm39)	D690V	probably benign	Het
Ankib1	G	T	5: 3,784,097 (GRCm39)	P293Q	probably damaging	Het
Arhgap19	T	A	19: 41,762,518 (GRCm39)	E461V	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bub1b	T	A	2: 118,445,936 (GRCm39)	N319K	possibly damaging	Het
Ccdc40	T	C	11: 119,155,252 (GRCm39)	V1164A	probably benign	Het
Cfhr1	C	A	1: 139,485,372 (GRCm39)		probably null	Het
Colq	A	T	14: 31,271,410 (GRCm39)		probably benign	Het
Daam1	C	A	12: 72,017,940 (GRCm39)	D716E	probably damaging	Het
Dnah17	T	C	11: 117,973,742 (GRCm39)	S1935G	probably benign	Het
Dnah8	A	T	17: 31,003,148 (GRCm39)	K3616*	probably null	Het
Faap24	A	T	7: 35,092,437 (GRCm39)	V160D	possibly damaging	Het
Igkv9-120	G	A	6: 68,026,985 (GRCm39)	A7T	probably benign	Het
Kcnu1	T	A	8: 26,376,798 (GRCm39)	C391S	probably null	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Lrp10	A	T	14: 54,706,723 (GRCm39)	N520I	possibly damaging	Het
Marchf6	A	G	15: 31,462,160 (GRCm39)	V856A	probably benign	Het
Mfsd1	T	C	3: 67,490,286 (GRCm39)	S46P	probably benign	Het
Mme	T	A	3: 63,250,961 (GRCm39)	V334E	probably damaging	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nuf2	T	A	1: 169,352,945 (GRCm39)	N20I	probably damaging	Het
Obsl1	T	C	1: 75,474,890 (GRCm39)	T642A	probably benign	Het
Olfm1	C	T	2: 28,098,100 (GRCm39)	T54I	probably damaging	Het
Or10c1	G	A	17: 37,522,691 (GRCm39)	R18C	possibly damaging	Het
Or6c3b	C	T	10: 129,527,830 (GRCm39)	V27I	probably benign	Het
Osbpl7	T	C	11: 96,946,879 (GRCm39)	V223A	probably damaging	Het
Patj	A	G	4: 98,357,837 (GRCm39)	Y701C	probably damaging	Het
Pkdrej	T	A	15: 85,705,278 (GRCm39)	K219N	probably damaging	Het
Scn2a	T	G	2: 65,544,115 (GRCm39)	V832G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc25a25	G	T	2: 32,310,392 (GRCm39)	N122K	probably benign	Het
Slk	T	G	19: 47,608,248 (GRCm39)	D400E	possibly damaging	Het
Spon1	T	C	7: 113,365,621 (GRCm39)	L19P	probably damaging	Het
Spon1	T	A	7: 113,616,024 (GRCm39)	V297E	possibly damaging	Het
Supt16	A	G	14: 52,417,596 (GRCm39)	L306P	probably damaging	Het
Syne1	C	T	10: 5,002,267 (GRCm39)		probably benign	Het
Tas2r136	A	T	6: 132,754,200 (GRCm39)	F309Y	probably damaging	Het
Terb1	T	C	8: 105,223,466 (GRCm39)	D114G	probably damaging	Het
Tlr5	T	C	1: 182,802,004 (GRCm39)	I436T	probably benign	Het
Tpcn2	T	C	7: 144,809,260 (GRCm39)	H682R	probably damaging	Het
Tpi1	T	A	6: 124,789,754 (GRCm39)	S130C	probably damaging	Het
Ttn	G	A	2: 76,584,350 (GRCm39)	H22253Y	probably damaging	Het
Uggt2	A	T	14: 119,295,084 (GRCm39)	V38E	probably benign	Het
Vmn1r158	A	C	7: 22,489,639 (GRCm39)	L190W	probably damaging	Het
Vwa5b2	A	G	16: 20,417,076 (GRCm39)		probably benign	Het
Wnt2	T	C	6: 18,023,167 (GRCm39)	I161V	probably benign	Het
Zdhhc25	C	T	15: 88,485,226 (GRCm39)	S187L	probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zkscan1	T	C	5: 138,099,703 (GRCm39)	S476P	probably damaging	Het
Zmynd8	A	G	2: 165,647,118 (GRCm39)	Y945H	probably damaging	Het

Other mutations in Gpc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Gpc1	APN	1	92,784,736 (GRCm39)	missense	probably damaging	1.00
IGL01697:Gpc1	APN	1	92,786,132 (GRCm39)	missense	possibly damaging	0.93
IGL02282:Gpc1	APN	1	92,785,689 (GRCm39)	missense	probably damaging	1.00
IGL02930:Gpc1	APN	1	92,785,021 (GRCm39)	nonsense	probably null
IGL03160:Gpc1	APN	1	92,785,579 (GRCm39)	missense	probably damaging	1.00
PIT4514001:Gpc1	UTSW	1	92,785,279 (GRCm39)	missense	probably benign	0.05
R0115:Gpc1	UTSW	1	92,785,221 (GRCm39)	missense	probably damaging	1.00
R0383:Gpc1	UTSW	1	92,782,705 (GRCm39)	missense	probably damaging	1.00
R0399:Gpc1	UTSW	1	92,785,031 (GRCm39)	missense	possibly damaging	0.72
R0938:Gpc1	UTSW	1	92,785,031 (GRCm39)	missense	possibly damaging	0.72
R0941:Gpc1	UTSW	1	92,785,031 (GRCm39)	missense	possibly damaging	0.72
R0942:Gpc1	UTSW	1	92,785,031 (GRCm39)	missense	possibly damaging	0.72
R2483:Gpc1	UTSW	1	92,783,660 (GRCm39)	missense	probably benign	0.35
R5033:Gpc1	UTSW	1	92,784,751 (GRCm39)	missense	probably damaging	0.97
R5154:Gpc1	UTSW	1	92,784,751 (GRCm39)	missense	probably damaging	0.97
R5362:Gpc1	UTSW	1	92,782,615 (GRCm39)	missense	probably benign	0.00
R5626:Gpc1	UTSW	1	92,784,841 (GRCm39)	critical splice donor site	probably null
R5693:Gpc1	UTSW	1	92,785,621 (GRCm39)	missense	probably damaging	1.00
R7268:Gpc1	UTSW	1	92,786,093 (GRCm39)	missense	possibly damaging	0.76
R7790:Gpc1	UTSW	1	92,781,171 (GRCm39)	missense	probably benign
R7875:Gpc1	UTSW	1	92,782,970 (GRCm39)	critical splice donor site	probably null
R9225:Gpc1	UTSW	1	92,783,742 (GRCm39)	missense	probably damaging	1.00
X0020:Gpc1	UTSW	1	92,782,703 (GRCm39)	missense	probably benign	0.00
Z1177:Gpc1	UTSW	1	92,785,208 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GACAGGACATAGGCAGTCTG -3'
(R):5'- GCTTTTGCAAAGGAGTCTAACC -3'

Sequencing Primer
(F):5'- ACATAGGCAGTCTGTCCCC -3'
(R):5'- TTTTGCAAAGGAGTCTAACCAAGGC -3'

Posted On

2015-04-17