Mutagenetix > Incidental Mutation

Incidental Mutation 'R8236:Epyc'

637367

Institutional Source

Beutler Lab

Gene Symbol

Epyc

Ensembl Gene

ENSMUSG00000019936

Gene Name

epiphycan

Synonyms

SLRR3B, PG-Lb, Dspg3, epiphycan

MMRRC Submission

067668-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97479930-97517770 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97517067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 302 (N302Y)

Ref Sequence

ENSEMBL: ENSMUSP00000020094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020094] [ENSMUST00000105285]

AlphaFold

P70186

Predicted Effect

probably damaging
Transcript: ENSMUST00000020094
AA Change: N302Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020094
Gene: ENSMUSG00000019936
AA Change: N302Y

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	117	147	1.79e-6	SMART
LRR	166	189	1.73e0	SMART
LRR	190	215	3.47e0	SMART
LRR	258	280	3.18e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000099324

Predicted Effect

probably damaging
Transcript: ENSMUST00000105285
AA Change: N302Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100922
Gene: ENSMUSG00000019936
AA Change: N302Y

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	117	147	1.79e-6	SMART
LRR	166	189	1.73e0	SMART
LRR	190	215	3.47e0	SMART
LRR	258	280	3.18e1	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dermatan sulfate proteoglycan 3 is a member of the small leucine-rich repeat proteoglycan family. This gene is composed of seven exons. It regulates fibrillogenesis by interacting with collagen fibrils and other extracellular matrix proteins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out exhibit short femurs and borderline osteoarthritis at 9 months of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	T	1: 85,974,115 (GRCm39)	A144V	possibly damaging	Het
Actr8	A	G	14: 29,704,585 (GRCm39)	I51M	probably damaging	Het
Afm	A	T	5: 90,671,747 (GRCm39)	D143V	probably damaging	Het
Ankfy1	T	A	11: 72,645,181 (GRCm39)	S753R	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Bicdl1	T	C	5: 115,787,618 (GRCm39)	H527R	probably benign	Het
Birc6	G	C	17: 74,918,126 (GRCm39)	L1845F	probably damaging	Het
Brip1	C	A	11: 86,029,938 (GRCm39)	D569Y	probably damaging	Het
Cab39	T	C	1: 85,776,092 (GRCm39)	L263P	probably damaging	Het
Cblb	C	A	16: 51,986,392 (GRCm39)	P545Q	possibly damaging	Het
Cdk5rap2	G	T	4: 70,160,722 (GRCm39)	P1579Q	probably benign	Het
Cdt1	A	G	8: 123,298,767 (GRCm39)	E468G	probably damaging	Het
Col28a1	A	G	6: 8,097,024 (GRCm39)		probably null	Het
Coro2a	A	G	4: 46,548,796 (GRCm39)	I166T	possibly damaging	Het
Ctnnd2	G	A	15: 30,647,164 (GRCm39)	A287T	probably benign	Het
Dcc	C	T	18: 72,088,089 (GRCm39)	V50I	probably benign	Het
Defb30	A	T	14: 63,287,216 (GRCm39)	M19K	unknown	Het
Dync2h1	C	A	9: 7,080,363 (GRCm39)		probably benign	Het
Edc4	A	G	8: 106,618,905 (GRCm39)	T1291A	possibly damaging	Het
Espn	G	A	4: 152,233,487 (GRCm39)	T106I	probably damaging	Het
Fam135a	T	C	1: 24,059,729 (GRCm39)		probably null	Het
Fam171b	G	A	2: 83,710,550 (GRCm39)	E741K	probably damaging	Het
Fgfr1	G	T	8: 26,052,288 (GRCm39)	E205*	probably null	Het
Flt3	A	G	5: 147,293,670 (GRCm39)	S469P	probably benign	Het
Gdpd3	A	G	7: 126,367,838 (GRCm39)	K224E	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm43518	C	T	5: 124,072,285 (GRCm39)	Q17*	probably null	Het
Gm4353	T	C	7: 115,682,618 (GRCm39)	Y321C	probably damaging	Het
Gphn	A	G	12: 78,711,311 (GRCm39)	H631R	probably damaging	Het
Hook1	T	A	4: 95,903,042 (GRCm39)		probably null	Het
Il9	T	A	13: 56,630,058 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,292,281 (GRCm39)		probably null	Het
Lhcgr	A	T	17: 89,050,014 (GRCm39)	L504*	probably null	Het
Mical3	A	G	6: 120,989,504 (GRCm39)	V272A		Het
Mup10	A	G	4: 60,537,562 (GRCm39)	I63T	probably damaging	Het
Mxi1	C	G	19: 53,358,029 (GRCm39)	P165R	probably damaging	Het
Nanog	A	T	6: 122,690,131 (GRCm39)	I179F	probably benign	Het
Or5w14	T	A	2: 87,542,104 (GRCm39)	I49F	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pip	A	G	6: 41,824,596 (GRCm39)	D28G	probably damaging	Het
Ppp2r3d	T	C	9: 124,440,067 (GRCm38)	H53R		Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882 (GRCm38)		probably null	Het
Ptpn4	A	G	1: 119,606,552 (GRCm39)	V781A	possibly damaging	Het
Ptprt	C	T	2: 161,528,988 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,531,695 (GRCm39)	S141P	probably damaging	Het
Slc2a1	G	C	4: 118,990,454 (GRCm39)	S226T	probably benign	Het
Smyd3	A	C	1: 179,233,205 (GRCm39)		probably null	Het
Sos1	T	C	17: 80,715,712 (GRCm39)	E1015G	probably benign	Het
Sult1b1	G	T	5: 87,669,383 (GRCm39)	T155N	probably damaging	Het
Tcam1	A	G	11: 106,177,243 (GRCm39)	I412V	probably benign	Het
Tet2	G	A	3: 133,193,547 (GRCm39)	P296S	probably benign	Het
Tmem30c	T	C	16: 57,096,542 (GRCm39)	D193G	probably null	Het
Trem2	G	T	17: 48,658,934 (GRCm39)	W233L	probably benign	Het
Trpm3	C	A	19: 22,964,772 (GRCm39)	D1422E	probably benign	Het
Ttbk1	T	G	17: 46,781,655 (GRCm39)	D366A	probably damaging	Het
Ttyh1	G	A	7: 4,128,547 (GRCm39)	G148D	probably benign	Het
Ubr2	T	C	17: 47,262,835 (GRCm39)	M1259V	probably benign	Het
Zfp608	T	A	18: 55,032,281 (GRCm39)	D553V	probably damaging	Het
Zkscan2	A	G	7: 123,079,135 (GRCm39)	S941P	probably benign	Het
Zranb1	T	C	7: 132,551,393 (GRCm39)	Y15H	probably damaging	Het

Other mutations in Epyc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Epyc	APN	10	97,517,009 (GRCm39)	missense	probably benign	0.14
IGL01347:Epyc	APN	10	97,510,593 (GRCm39)	missense	probably damaging	1.00
IGL01778:Epyc	APN	10	97,517,099 (GRCm39)	nonsense	probably null
IGL02010:Epyc	APN	10	97,485,563 (GRCm39)	start codon destroyed	probably null	1.00
IGL02159:Epyc	APN	10	97,506,493 (GRCm39)	missense	probably benign	0.00
IGL03176:Epyc	APN	10	97,485,562 (GRCm39)	start codon destroyed	probably null	0.99
R0110:Epyc	UTSW	10	97,485,625 (GRCm39)	missense	probably benign	0.03
R0469:Epyc	UTSW	10	97,485,625 (GRCm39)	missense	probably benign	0.03
R0510:Epyc	UTSW	10	97,485,625 (GRCm39)	missense	probably benign	0.03
R1883:Epyc	UTSW	10	97,511,695 (GRCm39)	missense	possibly damaging	0.83
R2013:Epyc	UTSW	10	97,511,655 (GRCm39)	missense	probably damaging	1.00
R2355:Epyc	UTSW	10	97,512,875 (GRCm39)	missense	probably damaging	1.00
R5005:Epyc	UTSW	10	97,510,562 (GRCm39)	missense	probably benign	0.11
R5958:Epyc	UTSW	10	97,485,704 (GRCm39)	missense	probably benign
R7311:Epyc	UTSW	10	97,485,562 (GRCm39)	start codon destroyed	probably null	0.99
R8786:Epyc	UTSW	10	97,511,525 (GRCm39)	missense	probably damaging	1.00
R8929:Epyc	UTSW	10	97,511,607 (GRCm39)	missense	probably benign	0.26
R9486:Epyc	UTSW	10	97,511,697 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTTTCACTCAGTACCTTGGGG -3'
(R):5'- GAGATTTGATGACTAGTTGGCATAC -3'

Sequencing Primer
(F):5'- TACCTTGGGGGCCCTATGTC -3'
(R):5'- CATTGTGCCACATGTTTTAAACGC -3'

Posted On

2020-07-13