Mutagenetix > Incidental Mutations

Incidental Mutation 'R7200:Gpc6'

560256

Institutional Source

Beutler Lab

Gene Symbol

Gpc6

Ensembl Gene

ENSMUSG00000058571

Gene Name

glypican 6

Synonyms

6720429C22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R7200 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116925315-117976544 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117964856 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 493 (V493I)

Ref Sequence

ENSEMBL: ENSMUSP00000120362 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078849
AA Change: V483I

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077893
Gene: ENSMUSG00000058571
AA Change: V483I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088483
AA Change: V483I

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000085835
Gene: ENSMUSG00000058571
AA Change: V483I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125435
AA Change: V493I

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120362
Gene: ENSMUSG00000058571
AA Change: V493I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	G	11: 65,153,010	M75T	unknown	Het
2700049A03Rik	T	G	12: 71,140,906	N105K	probably damaging	Het
Acvr1c	A	T	2: 58,315,855	V31E	probably damaging	Het
Adra1d	T	A	2: 131,561,250	T307S	probably benign	Het
Akr1c14	T	C	13: 4,081,051	Y248H	probably benign	Het
Ankub1	T	C	3: 57,672,985	T84A	probably benign	Het
Asb3	C	A	11: 30,998,348	S8*	probably null	Het
AU041133	G	A	10: 82,151,101	G196D	possibly damaging	Het
B4galt7	T	C	13: 55,608,342	C214R	probably damaging	Het
Chd3	A	G	11: 69,364,095	S140P	possibly damaging	Het
Ciz1	T	C	2: 32,364,287	L80P	probably damaging	Het
Col6a4	G	A	9: 106,072,249	P729L	possibly damaging	Het
Cr2	A	G	1: 195,163,249	C133R	probably damaging	Het
Dmgdh	T	C	13: 93,691,885	L178P	probably damaging	Het
Dock5	C	A	14: 67,771,702	E1448*	probably null	Het
Elavl1	A	G	8: 4,311,767	S2P	probably benign	Het
Flywch1	T	C	17: 23,761,059	H247R	possibly damaging	Het
Gabpb1	A	T	2: 126,639,302	I309N	possibly damaging	Het
Glrx3	T	C	7: 137,464,436	F298L	possibly damaging	Het
Gm9573	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,622,633		probably benign	Het
H2-Bl	A	T	17: 36,081,046	I45N	possibly damaging	Het
Hadha	C	T	5: 30,145,317	E78K	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Ldlrad3	G	T	2: 102,113,558	F56L	probably damaging	Het
Ldlrad3	A	G	2: 102,113,560	F56L	probably damaging	Het
Mapk4	A	T	18: 73,930,919	S411T	possibly damaging	Het
Mcm9	A	G	10: 53,615,923	M382T		Het
Olfr1457	T	C	19: 13,095,232	T139A	probably benign	Het
Olfr720	A	T	14: 14,175,477	C202S	probably damaging	Het
Pacs1	A	C	19: 5,156,413	I248S	possibly damaging	Het
Pi16	C	A	17: 29,319,234	P7Q	possibly damaging	Het
Plekhg1	T	C	10: 3,956,810	S631P		Het
Rars2	A	T	4: 34,645,747	K221N	probably benign	Het
Retsat	T	C	6: 72,606,019	S388P	possibly damaging	Het
Rft1	G	A	14: 30,682,857		probably null	Het
Rgsl1	A	G	1: 153,785,199	V345A	probably benign	Het
Rnf38	A	T	4: 44,137,620	S320R	probably benign	Het
Sel1l3	T	A	5: 53,144,109	Y722F	probably benign	Het
Slc13a4	T	C	6: 35,287,350	E194G	possibly damaging	Het
Spata17	G	A	1: 187,112,503	R300C	probably benign	Het
Tacc1	G	A	8: 25,241,640		probably benign	Het
Tc2n	T	G	12: 101,689,055	I214L	probably damaging	Het
Tet2	T	C	3: 133,487,192	S494G	probably benign	Het
Tmco5b	A	T	2: 113,291,377	I179L	probably damaging	Het
Triobp	AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA	AGGGACAA	15: 78,966,842		probably benign	Het
Trpv1	A	G	11: 73,239,586	T173A	probably damaging	Het
Vmn2r56	C	T	7: 12,710,332	G458R	probably damaging	Het
Vmn2r81	T	G	10: 79,270,736		probably null	Het
Wfdc15b	T	A	2: 164,215,117	E80D	probably benign	Het
Wrn	A	T	8: 33,322,348	D423E	probably benign	Het
Zfp775	T	A	6: 48,620,481	C430S	possibly damaging	Het

Other mutations in Gpc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Gpc6	APN	14	117951234	missense	probably benign	0.01
IGL00671:Gpc6	APN	14	117186787	missense	probably benign	0.01
IGL00928:Gpc6	APN	14	116925958	missense	possibly damaging	0.86
IGL01343:Gpc6	APN	14	117186812	missense	possibly damaging	0.54
IGL01545:Gpc6	APN	14	117964830	missense	probably damaging	1.00
IGL02797:Gpc6	APN	14	116925982	missense	probably damaging	0.98
PIT1430001:Gpc6	UTSW	14	117951182	nonsense	probably null
R0577:Gpc6	UTSW	14	117436008	missense	probably benign	0.03
R0611:Gpc6	UTSW	14	117975018	missense	probably null
R0636:Gpc6	UTSW	14	117624493	missense	probably benign	0.37
R2152:Gpc6	UTSW	14	116926092	missense	probably benign	0.00
R2242:Gpc6	UTSW	14	117186787	missense	probably benign	0.01
R2266:Gpc6	UTSW	14	117888520	critical splice acceptor site	probably null
R2267:Gpc6	UTSW	14	117888520	critical splice acceptor site	probably null
R2269:Gpc6	UTSW	14	117888520	critical splice acceptor site	probably null
R3788:Gpc6	UTSW	14	117624466	missense	probably damaging	0.98
R4255:Gpc6	UTSW	14	117951141	missense	probably benign	0.15
R4276:Gpc6	UTSW	14	117435916	missense	probably damaging	0.99
R4411:Gpc6	UTSW	14	117951178	missense	probably benign	0.45
R4626:Gpc6	UTSW	14	117964843	nonsense	probably null
R4993:Gpc6	UTSW	14	117624539	missense	possibly damaging	0.93
R5070:Gpc6	UTSW	14	117186769	missense	probably benign	0.01
R6007:Gpc6	UTSW	14	117951261	missense	probably damaging	1.00
R6058:Gpc6	UTSW	14	117964770	missense	probably damaging	1.00
R6488:Gpc6	UTSW	14	117964713	missense	possibly damaging	0.73
R6901:Gpc6	UTSW	14	117951217	missense	possibly damaging	0.87
R6981:Gpc6	UTSW	14	117624548	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCCATCTGAGATAGCAGGG -3'
(R):5'- GTACATTGTGCCTCAGACCG -3'

Sequencing Primer
(F):5'- TGGTTCTGAGGTCACCACAAC -3'
(R):5'- GTGCCTCAGACCGGAAAAACTTTG -3'

Posted On

2019-06-26