Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Gpc2'

56809

Institutional Source

Beutler Lab

Gene Symbol

Gpc2

Ensembl Gene

ENSMUSG00000029510

Gene Name

glypican 2 cerebroglycan

Synonyms

2410016G05Rik

MMRRC Submission

038827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138271917-138278267 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138276796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 110 (F110Y)

Ref Sequence

ENSEMBL: ENSMUSP00000125178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014089] [ENSMUST00000048028] [ENSMUST00000159067] [ENSMUST00000160729] [ENSMUST00000161827] [ENSMUST00000161984] [ENSMUST00000162245] [ENSMUST00000161691]

AlphaFold

Q8BKV1

Predicted Effect

probably benign
Transcript: ENSMUST00000014089
AA Change: F110Y

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000014089
Gene: ENSMUSG00000029510
AA Change: F110Y

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	560	2.8e-186	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048028

SMART Domains

Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC
Pfam:STAG	188	301	3.1e-38	PFAM
low complexity region	633	653	N/A	INTRINSIC
low complexity region	1099	1114	N/A	INTRINSIC
low complexity region	1141	1151	N/A	INTRINSIC
low complexity region	1190	1208	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159067
AA Change: F110Y

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247
AA Change: F110Y

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	250	1e-90	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159689

Predicted Effect

probably benign
Transcript: ENSMUST00000160729

SMART Domains

Protein: ENSMUSP00000124170
Gene: ENSMUSG00000036928

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161827
AA Change: F110Y

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124459
Gene: ENSMUSG00000029510
AA Change: F110Y

Domain	Start	End	E-Value	Type
Pfam:Glypican	11	566	3.1e-199	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161984
AA Change: F110Y

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510
AA Change: F110Y

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	342	3.7e-134	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161055

Predicted Effect

probably benign
Transcript: ENSMUST00000162245

SMART Domains

Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
low complexity region	75	90	N/A	INTRINSIC
Pfam:STAG	185	304	4e-50	PFAM
low complexity region	633	653	N/A	INTRINSIC
low complexity region	1099	1114	N/A	INTRINSIC
low complexity region	1141	1151	N/A	INTRINSIC
low complexity region	1190	1208	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161691

SMART Domains

Protein: ENSMUSP00000125290
Gene: ENSMUSG00000036928

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC

Meta Mutation Damage Score

0.2978

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,547,572 (GRCm39)	Q161K	probably benign	Het
Aatk	A	T	11: 119,900,748 (GRCm39)	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,321,535 (GRCm39)	F463L	possibly damaging	Het
Antxr2	C	T	5: 98,108,496 (GRCm39)	W338*	probably null	Het
Apc2	T	C	10: 80,140,801 (GRCm39)	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,192,389 (GRCm39)		probably null	Het
Arrdc5	A	G	17: 56,607,020 (GRCm39)	V75A	possibly damaging	Het
Atg16l2	A	T	7: 100,949,317 (GRCm39)		probably null	Het
Cacna1i	A	G	15: 80,265,281 (GRCm39)	N1511S	possibly damaging	Het
Cad	T	C	5: 31,235,032 (GRCm39)	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,035,753 (GRCm39)		probably benign	Het
Crybg2	A	G	4: 133,801,765 (GRCm39)	D975G	probably damaging	Het
Dagla	T	C	19: 10,232,247 (GRCm39)	I480V	probably damaging	Het
Efl1	C	T	7: 82,301,095 (GRCm39)	T33I	probably damaging	Het
Esp36	A	G	17: 38,728,060 (GRCm39)	F74L	probably benign	Het
Faim	T	C	9: 98,874,149 (GRCm39)		probably benign	Het
Fam83h	G	T	15: 75,875,776 (GRCm39)	H520Q	probably benign	Het
Fbn2	A	T	18: 58,178,446 (GRCm39)	C1931S	probably damaging	Het
Frs3	A	G	17: 48,012,581 (GRCm39)	D96G	probably benign	Het
Gbp4	A	G	5: 105,269,706 (GRCm39)	M374T	probably damaging	Het
Gimap1	C	T	6: 48,718,359 (GRCm39)		probably benign	Het
Gm10010	A	G	6: 128,177,576 (GRCm39)		noncoding transcript	Het
Gm10355	T	C	3: 101,214,214 (GRCm39)		noncoding transcript	Het
Gmip	C	T	8: 70,264,095 (GRCm39)		probably benign	Het
Ifi44l	C	T	3: 151,468,396 (GRCm39)	V45M	probably benign	Het
Il15	T	C	8: 83,069,890 (GRCm39)	E58G	probably damaging	Het
Kat2b	T	C	17: 53,951,771 (GRCm39)		probably benign	Het
Kcnh7	C	A	2: 62,607,854 (GRCm39)	V576L	probably benign	Het
Lrrc66	T	A	5: 73,772,816 (GRCm39)		probably benign	Het
Mical1	A	G	10: 41,358,235 (GRCm39)	E416G	probably benign	Het
Mroh3	A	G	1: 136,118,740 (GRCm39)	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,699,634 (GRCm39)		probably benign	Het
Naip6	A	T	13: 100,437,036 (GRCm39)	Y496N	probably benign	Het
Nfyc	A	G	4: 120,626,081 (GRCm39)	S73P	probably benign	Het
Or10v9	C	T	19: 11,832,487 (GRCm39)	V277M	probably damaging	Het
Or10v9	A	C	19: 11,832,732 (GRCm39)	V195G	probably damaging	Het
Or1e23	T	A	11: 73,407,750 (GRCm39)	I92F	probably damaging	Het
Or5ak25	A	G	2: 85,268,845 (GRCm39)	I219T	probably benign	Het
Or6c69b	T	A	10: 129,627,101 (GRCm39)	D119V	probably damaging	Het
P2ry14	A	G	3: 59,022,869 (GRCm39)	V206A	probably benign	Het
Polg	G	A	7: 79,109,896 (GRCm39)		probably benign	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Ptgs1	G	A	2: 36,130,868 (GRCm39)		probably benign	Het
Pus7l	A	G	15: 94,421,298 (GRCm39)	S671P	probably benign	Het
Ralgapa2	T	C	2: 146,184,112 (GRCm39)	T1547A	probably benign	Het
Rif1	T	C	2: 52,001,600 (GRCm39)	S1685P	probably benign	Het
Rnf213	T	C	11: 119,361,036 (GRCm39)	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,810,670 (GRCm39)	D229G	probably benign	Het
Serpina3j	T	C	12: 104,281,078 (GRCm39)	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,070,441 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,347 (GRCm39)	D847G	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Steap4	T	C	5: 8,027,030 (GRCm39)		probably benign	Het
Tg	A	C	15: 66,589,057 (GRCm39)	T13P	probably damaging	Het
Timeless	T	A	10: 128,080,542 (GRCm39)	Y474*	probably null	Het
Tmem94	T	C	11: 115,682,886 (GRCm39)		probably null	Het
Trdmt1	G	A	2: 13,521,459 (GRCm39)		probably benign	Het
Trim23	T	C	13: 104,337,817 (GRCm39)	Y522H	probably benign	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Txnl1	A	G	18: 63,825,135 (GRCm39)		probably benign	Het
Unkl	T	C	17: 25,427,057 (GRCm39)		probably benign	Het
Usp54	T	A	14: 20,639,437 (GRCm39)		probably benign	Het
Vcam1	T	C	3: 115,910,908 (GRCm39)	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,049,648 (GRCm39)	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,466 (GRCm39)	K495E	probably benign	Het
Wrnip1	G	A	13: 33,005,073 (GRCm39)	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,983,563 (GRCm39)	R660G	probably benign	Het
Zfp280c	A	G	X: 47,637,580 (GRCm39)		probably benign	Het
Zfp707	G	A	15: 75,846,978 (GRCm39)	A291T	possibly damaging	Het

Other mutations in Gpc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Gpc2	APN	5	138,272,571 (GRCm39)	utr 3 prime	probably benign
IGL00938:Gpc2	APN	5	138,277,169 (GRCm39)	missense	probably benign	0.08
IGL01315:Gpc2	APN	5	138,274,301 (GRCm39)	missense	probably benign	0.00
IGL01583:Gpc2	APN	5	138,273,792 (GRCm39)	missense	probably damaging	1.00
IGL01590:Gpc2	APN	5	138,272,640 (GRCm39)	missense	probably damaging	0.99
IGL02040:Gpc2	APN	5	138,274,844 (GRCm39)	critical splice donor site	probably null
IGL02322:Gpc2	APN	5	138,274,499 (GRCm39)	splice site	probably null
IGL02655:Gpc2	APN	5	138,277,187 (GRCm39)	missense	possibly damaging	0.73
R1004:Gpc2	UTSW	5	138,276,487 (GRCm39)	missense	probably damaging	1.00
R1918:Gpc2	UTSW	5	138,276,641 (GRCm39)	missense	probably benign	0.01
R4177:Gpc2	UTSW	5	138,275,621 (GRCm39)	unclassified	probably benign
R4361:Gpc2	UTSW	5	138,276,552 (GRCm39)	nonsense	probably null
R5178:Gpc2	UTSW	5	138,273,867 (GRCm39)	missense	possibly damaging	0.59
R5250:Gpc2	UTSW	5	138,277,230 (GRCm39)	missense	probably damaging	1.00
R5365:Gpc2	UTSW	5	138,273,885 (GRCm39)	missense	probably damaging	1.00
R6182:Gpc2	UTSW	5	138,276,676 (GRCm39)	missense	probably benign	0.01
R6548:Gpc2	UTSW	5	138,275,533 (GRCm39)	splice site	probably null
R6985:Gpc2	UTSW	5	138,276,670 (GRCm39)	missense	probably damaging	1.00
R7064:Gpc2	UTSW	5	138,277,172 (GRCm39)	missense	probably damaging	1.00
R7821:Gpc2	UTSW	5	138,274,559 (GRCm39)	missense	probably benign	0.43
R8460:Gpc2	UTSW	5	138,274,891 (GRCm39)	missense	probably damaging	0.99
R9043:Gpc2	UTSW	5	138,277,193 (GRCm39)	missense	probably benign	0.00
R9124:Gpc2	UTSW	5	138,274,784 (GRCm39)	unclassified	probably benign
R9287:Gpc2	UTSW	5	138,272,586 (GRCm39)	missense	unknown
R9439:Gpc2	UTSW	5	138,277,248 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- ATCCGCCAAGGTGTCATCTAACCC -3'
(R):5'- TCCTGATTCACACACTGGCTGC -3'

Sequencing Primer
(F):5'- CCTCGCCAGACTTCTCATAGTAG -3'
(R):5'- CTGCCCGGCATAGAAAGTTTAATG -3'

Posted On

2013-07-11