Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Gpc5'

57780

Institutional Source

Beutler Lab

Gene Symbol

Gpc5

Ensembl Gene

ENSMUSG00000022112

Gene Name

glypican 5

Synonyms

A230034F01Rik

MMRRC Submission

038818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0629 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115329647-116762591 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115789651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 508 (N508K)

Ref Sequence

ENSEMBL: ENSMUSP00000135085 (fasta)

Gene Model

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

AlphaFold

Q8CAL5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022707
AA Change: N435K

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022707
Gene: ENSMUSG00000022112
AA Change: N435K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176139

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176912
AA Change: N508K

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135085
Gene: ENSMUSG00000022112
AA Change: N508K

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

Meta Mutation Damage Score

0.1369

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,818,473 (GRCm39)	D86V	probably damaging	Het
Adamts14	G	A	10: 61,047,403 (GRCm39)	Q733*	probably null	Het
Adcy10	A	G	1: 165,370,674 (GRCm39)	D651G	probably damaging	Het
Apcdd1	T	A	18: 63,067,041 (GRCm39)	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,209,172 (GRCm39)	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,352,108 (GRCm39)	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,486,673 (GRCm39)	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,300,369 (GRCm39)	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,052,064 (GRCm39)	M325R	possibly damaging	Het
Clca3a2	T	A	3: 144,778,000 (GRCm39)	M762L	probably benign	Het
Cntn3	C	T	6: 102,180,937 (GRCm39)	V753M	probably damaging	Het
Col6a6	A	T	9: 105,604,364 (GRCm39)		probably benign	Het
Dscaml1	A	G	9: 45,632,716 (GRCm39)	D1194G	probably damaging	Het
Egfr	G	A	11: 16,819,333 (GRCm39)	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,778,409 (GRCm39)	N19K	probably damaging	Het
Fmo3	A	G	1: 162,785,796 (GRCm39)		probably benign	Het
Frmd6	T	C	12: 70,930,536 (GRCm39)	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,652,955 (GRCm39)	V193A	possibly damaging	Het
Gm7461	C	T	8: 4,727,769 (GRCm39)		noncoding transcript	Het
Iqch	A	T	9: 63,332,664 (GRCm39)	D1019E	probably benign	Het
Isyna1	A	G	8: 71,047,358 (GRCm39)	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,166,216 (GRCm39)	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,077,572 (GRCm39)	P57L	probably benign	Het
Kcns3	A	C	12: 11,142,559 (GRCm39)	C47G	probably damaging	Het
Kif21b	A	T	1: 136,099,895 (GRCm39)		probably null	Het
Lama3	A	T	18: 12,552,302 (GRCm39)	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,581,951 (GRCm39)	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,526,489 (GRCm39)	D356V	probably damaging	Het
Morc2b	A	G	17: 33,354,781 (GRCm39)	M997T	probably benign	Het
Mroh9	T	C	1: 162,888,205 (GRCm39)	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,645,137 (GRCm39)	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,613,791 (GRCm39)	T529A	possibly damaging	Het
Myo7a	A	C	7: 97,734,673 (GRCm39)	L607R	probably damaging	Het
Myom2	T	A	8: 15,119,783 (GRCm39)	F180I	probably damaging	Het
Myt1l	G	A	12: 29,861,484 (GRCm39)	E89K	unknown	Het
Nek2	A	G	1: 191,563,429 (GRCm39)	N431S	probably benign	Het
Oprm1	A	T	10: 6,782,604 (GRCm39)		probably null	Het
Or2aj4	A	T	16: 19,384,730 (GRCm39)	V301E	possibly damaging	Het
Or5t7	T	A	2: 86,506,873 (GRCm39)	H268L	possibly damaging	Het
Oxsr1	A	G	9: 119,070,850 (GRCm39)		probably benign	Het
Pasd1	G	C	X: 70,982,379 (GRCm39)	R296P	possibly damaging	Het
Pdgfrb	G	A	18: 61,211,720 (GRCm39)		probably null	Het
Proser1	C	A	3: 53,386,485 (GRCm39)	P789Q	probably benign	Het
Ptgs2	A	G	1: 149,976,788 (GRCm39)	Q7R	probably benign	Het
Rab3d	A	G	9: 21,825,982 (GRCm39)	V144A	probably benign	Het
Ralgapb	T	A	2: 158,281,467 (GRCm39)	L167H	probably damaging	Het
Ranbp3	A	G	17: 57,015,200 (GRCm39)	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,866,322 (GRCm39)	V587M	probably damaging	Het
Sec16b	A	G	1: 157,392,433 (GRCm39)		probably benign	Het
Sin3b	T	C	8: 73,480,164 (GRCm39)		probably benign	Het
Slc10a2	T	C	8: 5,148,562 (GRCm39)	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,264,565 (GRCm39)	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896 (GRCm39)		probably null	Het
Trak1	A	T	9: 121,196,233 (GRCm39)	T22S	probably benign	Het
Trim30d	A	G	7: 104,136,862 (GRCm39)	I114T	probably damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Ttn	T	C	2: 76,658,474 (GRCm39)		probably benign	Het
Vipr1	T	A	9: 121,489,237 (GRCm39)	Y99*	probably null	Het
Vmn1r210	T	C	13: 23,012,044 (GRCm39)	K81E	probably damaging	Het
Wwc1	T	C	11: 35,744,299 (GRCm39)	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,149,024 (GRCm39)		probably benign	Het
Zdhhc22	A	T	12: 87,035,071 (GRCm39)	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,814,785 (GRCm39)	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,962,659 (GRCm39)	L18I	probably damaging	Het

Other mutations in Gpc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Gpc5	APN	14	115,607,436 (GRCm39)	missense	probably damaging	1.00
IGL01298:Gpc5	APN	14	115,636,600 (GRCm39)	missense	probably benign	0.14
IGL01359:Gpc5	APN	14	115,607,162 (GRCm39)	missense	possibly damaging	0.74
IGL02354:Gpc5	APN	14	115,370,699 (GRCm39)	nonsense	probably null
IGL02361:Gpc5	APN	14	115,370,699 (GRCm39)	nonsense	probably null
IGL02982:Gpc5	APN	14	115,607,400 (GRCm39)	missense	probably damaging	1.00
IGL03120:Gpc5	APN	14	115,607,556 (GRCm39)	missense	possibly damaging	0.64
R0322:Gpc5	UTSW	14	115,636,563 (GRCm39)	missense	probably benign	0.05
R0396:Gpc5	UTSW	14	115,665,620 (GRCm39)	missense	possibly damaging	0.91
R0555:Gpc5	UTSW	14	115,789,740 (GRCm39)	missense	probably damaging	0.98
R1536:Gpc5	UTSW	14	115,636,662 (GRCm39)	missense	probably benign	0.09
R1660:Gpc5	UTSW	14	115,636,691 (GRCm39)	missense	probably benign	0.12
R1676:Gpc5	UTSW	14	115,607,510 (GRCm39)	missense	probably damaging	1.00
R2328:Gpc5	UTSW	14	116,025,591 (GRCm39)	missense	probably damaging	0.99
R3522:Gpc5	UTSW	14	116,761,747 (GRCm39)	missense	probably benign	0.00
R3776:Gpc5	UTSW	14	115,607,472 (GRCm39)	missense	probably benign	0.05
R3885:Gpc5	UTSW	14	115,607,472 (GRCm39)	missense	probably benign	0.05
R3889:Gpc5	UTSW	14	115,607,472 (GRCm39)	missense	probably benign	0.05
R3893:Gpc5	UTSW	14	115,607,472 (GRCm39)	missense	probably benign	0.05
R4041:Gpc5	UTSW	14	115,370,628 (GRCm39)	missense	probably damaging	1.00
R4517:Gpc5	UTSW	14	115,789,651 (GRCm39)	missense	possibly damaging	0.94
R5068:Gpc5	UTSW	14	115,654,676 (GRCm39)	makesense	probably null
R5639:Gpc5	UTSW	14	115,330,179 (GRCm39)	missense	probably benign	0.13
R5730:Gpc5	UTSW	14	116,025,726 (GRCm39)	missense	possibly damaging	0.73
R5944:Gpc5	UTSW	14	115,607,250 (GRCm39)	missense	probably benign	0.24
R6351:Gpc5	UTSW	14	115,636,612 (GRCm39)	missense	probably benign	0.01
R6557:Gpc5	UTSW	14	115,329,966 (GRCm39)	unclassified	probably benign
R6657:Gpc5	UTSW	14	115,607,610 (GRCm39)	missense	probably benign	0.01
R6714:Gpc5	UTSW	14	115,789,715 (GRCm39)	nonsense	probably null
R6751:Gpc5	UTSW	14	115,607,363 (GRCm39)	missense	probably benign	0.00
R7057:Gpc5	UTSW	14	115,370,654 (GRCm39)	missense	possibly damaging	0.64
R7142:Gpc5	UTSW	14	115,654,615 (GRCm39)	missense	probably benign	0.01
R7225:Gpc5	UTSW	14	115,789,710 (GRCm39)	missense	probably damaging	1.00
R7544:Gpc5	UTSW	14	115,665,585 (GRCm39)	missense	probably damaging	1.00
R7658:Gpc5	UTSW	14	115,665,620 (GRCm39)	missense	possibly damaging	0.91
R7695:Gpc5	UTSW	14	115,330,026 (GRCm39)	missense	unknown
R7785:Gpc5	UTSW	14	115,654,632 (GRCm39)	missense	probably benign	0.00
R8116:Gpc5	UTSW	14	115,636,637 (GRCm39)	missense	probably damaging	0.98
R8303:Gpc5	UTSW	14	115,665,667 (GRCm39)	missense	probably benign	0.01
R8983:Gpc5	UTSW	14	115,330,118 (GRCm39)	missense	unknown
RF001:Gpc5	UTSW	14	115,654,590 (GRCm39)	missense	probably benign	0.41
RF022:Gpc5	UTSW	14	115,789,688 (GRCm39)	missense	probably damaging	1.00
Z1176:Gpc5	UTSW	14	115,607,376 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTACTGGGGATTATCCAAACACTGC -3'
(R):5'- AAGCATTCGCATACCATTGAAAGCTG -3'

Sequencing Primer
(F):5'- atacccactcactcacacac -3'
(R):5'- CTGTGCTTACCTGGATGACA -3'

Posted On

2013-07-11