Mutagenetix > Incidental Mutation

Incidental Mutation 'R2269:Gpc6'

242348

Institutional Source

Beutler Lab

Gene Symbol

Gpc6

Ensembl Gene

ENSMUSG00000058571

Gene Name

glypican 6

Synonyms

6720429C22Rik

MMRRC Submission

040269-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R2269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117162727-118213956 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 118125932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078849] [ENSMUST00000078849] [ENSMUST00000078849] [ENSMUST00000088483] [ENSMUST00000088483] [ENSMUST00000088483] [ENSMUST00000125435] [ENSMUST00000125435] [ENSMUST00000125435]

AlphaFold

Q9R087

Predicted Effect

probably null
Transcript: ENSMUST00000078849

SMART Domains

Protein: ENSMUSP00000077893
Gene: ENSMUSG00000058571

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	554	9.3e-247	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000078849

SMART Domains

Protein: ENSMUSP00000077893
Gene: ENSMUSG00000058571

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	554	9.3e-247	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000078849

SMART Domains

Protein: ENSMUSP00000077893
Gene: ENSMUSG00000058571

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	554	9.3e-247	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000088483

SMART Domains

Protein: ENSMUSP00000085835
Gene: ENSMUSG00000058571

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	554	9.3e-247	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000088483

SMART Domains

Protein: ENSMUSP00000085835
Gene: ENSMUSG00000058571

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	554	9.3e-247	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000088483

SMART Domains

Protein: ENSMUSP00000085835
Gene: ENSMUSG00000058571

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	554	9.3e-247	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000125435

SMART Domains

Protein: ENSMUSP00000120362
Gene: ENSMUSG00000058571

Domain	Start	End	E-Value	Type
Pfam:Glypican	15	564	7.2e-248	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000125435

SMART Domains

Protein: ENSMUSP00000120362
Gene: ENSMUSG00000058571

Domain	Start	End	E-Value	Type
Pfam:Glypican	15	564	7.2e-248	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000125435

SMART Domains

Protein: ENSMUSP00000120362
Gene: ENSMUSG00000058571

Domain	Start	End	E-Value	Type
Pfam:Glypican	15	564	7.2e-248	PFAM

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, decreased fetal weight, short long bones, small skull, small snout, cleft palate and decreased chondrocyte proliferation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Abca8a	A	C	11: 109,917,718 (GRCm39)	F1574V	probably damaging	Het
Adh6a	A	T	3: 138,034,857 (GRCm39)	I329L	probably benign	Het
Agap2	T	A	10: 126,918,297 (GRCm39)		probably benign	Het
Ager	A	T	17: 34,818,124 (GRCm39)	I185F	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Arhgef16	T	A	4: 154,369,490 (GRCm39)	H329L	probably damaging	Het
Astn1	T	C	1: 158,329,669 (GRCm39)	Y175H	probably damaging	Het
Banp	A	G	8: 122,702,662 (GRCm39)	T70A	probably benign	Het
Bcl11b	T	C	12: 107,881,910 (GRCm39)	T802A	possibly damaging	Het
Ces2a	A	T	8: 105,466,822 (GRCm39)	I65F	probably benign	Het
Cflar	G	A	1: 58,780,206 (GRCm39)		probably null	Het
Clec16a	G	A	16: 10,462,650 (GRCm39)	R656H	probably damaging	Het
Cntn1	A	G	15: 92,192,863 (GRCm39)		probably benign	Het
Coasy	A	G	11: 100,976,708 (GRCm39)	T493A	probably benign	Het
Col16a1	C	A	4: 129,946,711 (GRCm39)	H111Q	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
Cyp3a41b	A	T	5: 145,514,976 (GRCm39)	V83D	probably benign	Het
D2hgdh	C	T	1: 93,763,157 (GRCm39)	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Decr2	C	A	17: 26,302,858 (GRCm39)	V173L	probably benign	Het
Defb11	A	G	8: 22,395,444 (GRCm39)	*78Q	probably null	Het
Dock3	C	A	9: 106,818,525 (GRCm39)	V1190F	probably damaging	Het
Dusp1	A	T	17: 26,726,093 (GRCm39)	I200N	probably damaging	Het
Efna1	G	A	3: 89,183,646 (GRCm39)	A60V	possibly damaging	Het
Egfl8	C	T	17: 34,832,832 (GRCm39)	V253M	probably damaging	Het
Epb41	T	A	4: 131,691,458 (GRCm39)	N623I	probably benign	Het
Fbxw22	C	T	9: 109,213,062 (GRCm39)	R295K	probably benign	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gbe1	C	T	16: 70,233,840 (GRCm39)	A239V	probably damaging	Het
Gpatch3	C	T	4: 133,311,118 (GRCm39)	A518V	possibly damaging	Het
Hdhd2	C	T	18: 77,052,866 (GRCm39)	T172M	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,299 (GRCm39)	Y138H	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Klhl31	A	G	9: 77,557,440 (GRCm39)	D52G	possibly damaging	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lrrc43	A	T	5: 123,641,354 (GRCm39)	T513S	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh5	T	C	15: 73,664,997 (GRCm39)	N258D	probably benign	Het
Mrpl28	T	C	17: 26,345,285 (GRCm39)	V235A	probably benign	Het
Mtbp	G	A	15: 55,432,556 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,455,362 (GRCm39)	K92E	possibly damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Nav1	A	T	1: 135,399,974 (GRCm39)	L532*	probably null	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or1e23	A	G	11: 73,407,309 (GRCm39)	S239P	probably damaging	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Pappa2	A	G	1: 158,684,841 (GRCm39)	M766T	probably damaging	Het
Pkhd1	C	T	1: 20,604,759 (GRCm39)		probably null	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Prrc1	G	T	18: 57,514,718 (GRCm39)	D312Y	probably damaging	Het
Pxdn	T	A	12: 30,055,774 (GRCm39)	V1220E	probably damaging	Het
Robo1	T	A	16: 72,775,660 (GRCm39)	F728L	probably benign	Het
Rtel1	G	T	2: 180,977,796 (GRCm39)	Q292H	probably benign	Het
Sh3bp4	G	A	1: 89,073,314 (GRCm39)	V721I	possibly damaging	Het
Slc2a10	T	A	2: 165,356,701 (GRCm39)	C120*	probably null	Het
Srd5a2	T	C	17: 74,331,485 (GRCm39)	R171G	probably damaging	Het
Srsf4	T	C	4: 131,624,993 (GRCm39)	V130A	probably damaging	Het
Styk1	T	C	6: 131,289,539 (GRCm39)	E25G	probably benign	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tbx1	T	C	16: 18,400,744 (GRCm39)		probably null	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tmem252	T	C	19: 24,651,455 (GRCm39)	I8T	probably benign	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r107	T	C	17: 20,595,817 (GRCm39)	I790T	possibly damaging	Het
Vmn2r77	T	C	7: 86,460,897 (GRCm39)	V741A	probably benign	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Ylpm1	T	A	12: 85,061,824 (GRCm39)	V575E	unknown	Het
Zbp1	T	A	2: 173,060,616 (GRCm39)		probably benign	Het
Zfp280d	C	A	9: 72,209,052 (GRCm39)		probably benign	Het
Zkscan5	A	G	5: 145,142,277 (GRCm39)	Y58C	probably damaging	Het

Other mutations in Gpc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Gpc6	APN	14	118,188,646 (GRCm39)	missense	probably benign	0.01
IGL00671:Gpc6	APN	14	117,424,199 (GRCm39)	missense	probably benign	0.01
IGL00928:Gpc6	APN	14	117,163,370 (GRCm39)	missense	possibly damaging	0.86
IGL01343:Gpc6	APN	14	117,424,224 (GRCm39)	missense	possibly damaging	0.54
IGL01545:Gpc6	APN	14	118,202,242 (GRCm39)	missense	probably damaging	1.00
IGL02797:Gpc6	APN	14	117,163,394 (GRCm39)	missense	probably damaging	0.98
PIT1430001:Gpc6	UTSW	14	118,188,594 (GRCm39)	nonsense	probably null
R0577:Gpc6	UTSW	14	117,673,420 (GRCm39)	missense	probably benign	0.03
R0611:Gpc6	UTSW	14	118,212,430 (GRCm39)	missense	probably null
R0636:Gpc6	UTSW	14	117,861,905 (GRCm39)	missense	probably benign	0.37
R2152:Gpc6	UTSW	14	117,163,504 (GRCm39)	missense	probably benign	0.00
R2242:Gpc6	UTSW	14	117,424,199 (GRCm39)	missense	probably benign	0.01
R2266:Gpc6	UTSW	14	118,125,932 (GRCm39)	critical splice acceptor site	probably null
R2267:Gpc6	UTSW	14	118,125,932 (GRCm39)	critical splice acceptor site	probably null
R3788:Gpc6	UTSW	14	117,861,878 (GRCm39)	missense	probably damaging	0.98
R4255:Gpc6	UTSW	14	118,188,553 (GRCm39)	missense	probably benign	0.15
R4276:Gpc6	UTSW	14	117,673,328 (GRCm39)	missense	probably damaging	0.99
R4411:Gpc6	UTSW	14	118,188,590 (GRCm39)	missense	probably benign	0.45
R4626:Gpc6	UTSW	14	118,202,255 (GRCm39)	nonsense	probably null
R4993:Gpc6	UTSW	14	117,861,951 (GRCm39)	missense	possibly damaging	0.93
R5070:Gpc6	UTSW	14	117,424,181 (GRCm39)	missense	probably benign	0.01
R6007:Gpc6	UTSW	14	118,188,673 (GRCm39)	missense	probably damaging	1.00
R6058:Gpc6	UTSW	14	118,202,182 (GRCm39)	missense	probably damaging	1.00
R6488:Gpc6	UTSW	14	118,202,125 (GRCm39)	missense	possibly damaging	0.73
R6901:Gpc6	UTSW	14	118,188,629 (GRCm39)	missense	possibly damaging	0.87
R6981:Gpc6	UTSW	14	117,861,960 (GRCm39)	missense	probably damaging	0.98
R7200:Gpc6	UTSW	14	118,202,268 (GRCm39)	missense	probably benign	0.08
R8348:Gpc6	UTSW	14	117,673,232 (GRCm39)	missense	probably damaging	1.00
R8354:Gpc6	UTSW	14	117,163,391 (GRCm39)	missense	probably damaging	0.98
R8413:Gpc6	UTSW	14	118,129,761 (GRCm39)	missense	possibly damaging	0.93
R8454:Gpc6	UTSW	14	117,163,391 (GRCm39)	missense	probably damaging	0.98
R8518:Gpc6	UTSW	14	117,163,384 (GRCm39)	missense	probably benign	0.10
R9009:Gpc6	UTSW	14	117,424,217 (GRCm39)	missense	possibly damaging	0.84
R9112:Gpc6	UTSW	14	117,424,088 (GRCm39)	missense	probably benign	0.01
R9481:Gpc6	UTSW	14	117,163,432 (GRCm39)	missense	probably benign
R9762:Gpc6	UTSW	14	118,202,258 (GRCm39)	missense	probably damaging	0.98
R9790:Gpc6	UTSW	14	117,163,435 (GRCm39)	missense	probably damaging	0.98
R9791:Gpc6	UTSW	14	117,163,435 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CGTGTGACAATGACTTCCTATTG -3'
(R):5'- TTCAGCCTTTAGGAAGCCCG -3'

Sequencing Primer
(F):5'- ACAATGACTTCCTATTGGTGTTG -3'
(R):5'- TTTAGGAAGCCCGTAGCCC -3'

Posted On

2014-10-16