Mutagenetix > Incidental Mutation

Incidental Mutation 'R8413:Gpc6'

652804

Institutional Source

Beutler Lab

Gene Symbol

Gpc6

Ensembl Gene

ENSMUSG00000058571

Gene Name

glypican 6

Synonyms

6720429C22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R8413 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116925315-117976544 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117892349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 387 (V387E)

Ref Sequence

ENSEMBL: ENSMUSP00000120362 (fasta)

Gene Model

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

AlphaFold

Q9R087

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000088483

SMART Domains

Protein: ENSMUSP00000085835
Gene: ENSMUSG00000058571

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125435
AA Change: V387E

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120362
Gene: ENSMUSG00000058571
AA Change: V387E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,423,900	D86E	probably benign	Het
Adamts5	A	G	16: 85,866,618		probably null	Het
Arhgap31	T	C	16: 38,602,921	R928G	possibly damaging	Het
Birc6	T	C	17: 74,546,393	V164A	possibly damaging	Het
Cdh26	T	A	2: 178,468,229	H438Q	probably damaging	Het
Cfap65	T	A	1: 74,917,169	K1084*	probably null	Het
Csmd1	T	C	8: 15,900,676	H3511R	probably damaging	Het
Ebf1	T	A	11: 44,643,447	S178T	possibly damaging	Het
Eln	A	G	5: 134,726,521	V226A	unknown	Het
Fat4	A	T	3: 39,008,979		probably null	Het
Gcn1l1	C	T	5: 115,579,639	T222I	probably benign	Het
Gm11639	A	C	11: 104,920,309	K3192N	unknown	Het
Gm5624	T	G	14: 44,561,890	N70T		Het
Gyg	C	T	3: 20,125,455	V255M	probably damaging	Het
Henmt1	T	A	3: 108,957,649	F146I	probably damaging	Het
Itpr3	T	A	17: 27,111,926	L1736Q	probably damaging	Het
Kcnh4	A	G	11: 100,749,793	V469A	possibly damaging	Het
Mybpc2	A	G	7: 44,508,305	L750P	probably damaging	Het
Naalad2	A	G	9: 18,330,643	V655A	probably damaging	Het
Nme8	C	T	13: 19,674,519	D289N	probably benign	Het
Olfr1109	T	C	2: 87,093,158	K80E	probably benign	Het
Olfr1199	T	A	2: 88,756,680		probably benign	Het
Olfr358	T	G	2: 37,005,390	T75P	probably damaging	Het
Olfr720	A	G	14: 14,175,416	V222A	probably benign	Het
Olfr727	C	G	14: 50,127,370	S264R	probably benign	Het
Olfr948	T	A	9: 39,319,105	K170*	probably null	Het
Phf24	T	A	4: 42,937,906	C173*	probably null	Het
Plcb2	A	G	2: 118,718,823	F353L	probably damaging	Het
Prss33	C	A	17: 23,833,956	W248L	probably damaging	Het
Rgs3	T	G	4: 62,626,017	L350R	possibly damaging	Het
Samd11	C	T	4: 156,249,273	G200D	probably damaging	Het
Sh3tc2	T	A	18: 61,990,802	V878E	probably damaging	Het
Sh3tc2	G	C	18: 62,015,071	G1284A	probably benign	Het
Skint5	A	G	4: 113,715,703	S780P	unknown	Het
Slc8a3	T	C	12: 81,314,678	K456E	probably damaging	Het
Smok2a	T	A	17: 13,225,612	H25Q	probably benign	Het
Srrt	A	G	5: 137,300,327	L225P	possibly damaging	Het
Stox1	C	T	10: 62,664,975	R602Q	probably damaging	Het
Tmem30a	A	T	9: 79,776,225	C157S	probably damaging	Het
Tnks1bp1	T	C	2: 85,062,278	S850P	probably damaging	Het
Trpm6	A	G	19: 18,832,485	I1082V	probably benign	Het
Ttll5	T	A	12: 85,919,121	N646K	probably benign	Het
Vmn1r179	A	T	7: 23,928,852	Y156F	probably benign	Het
Vmn1r54	T	A	6: 90,269,431	L109H	probably damaging	Het
Wdr17	T	C	8: 54,662,918	I617V	probably benign	Het
Zeb2	T	A	2: 44,996,171	Q958L	probably 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
R7200:Gpc6	UTSW	14	117964856	missense	probably benign	0.08
R8348:Gpc6	UTSW	14	117435820	missense	probably damaging	1.00
R8354:Gpc6	UTSW	14	116925979	missense	probably damaging	0.98
R8454:Gpc6	UTSW	14	116925979	missense	probably damaging	0.98
R8518:Gpc6	UTSW	14	116925972	missense	probably benign	0.10
R9009:Gpc6	UTSW	14	117186805	missense	possibly damaging	0.84
R9112:Gpc6	UTSW	14	117186676	missense	probably benign	0.01
R9481:Gpc6	UTSW	14	116926020	missense	probably benign
R9762:Gpc6	UTSW	14	117964846	missense	probably damaging	0.98
R9790:Gpc6	UTSW	14	116926023	missense	probably damaging	0.98
R9791:Gpc6	UTSW	14	116926023	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AACTCCAGTAAGTATCTCACCTTCTG -3'
(R):5'- GACTGAAAACCTTGCCATAGGG -3'

Sequencing Primer
(F):5'- AGTAAGTATCTCACCTTCTGGATGTC -3'
(R):5'- TTGCCATAGGGAAAGACTACC -3'

Posted On

2020-10-20