Mutagenetix > Incidental Mutation

Incidental Mutation 'R5616:Matn3'

439542

Institutional Source

Beutler Lab

Gene Symbol

Matn3

Ensembl Gene

ENSMUSG00000020583

Gene Name

matrilin 3

Synonyms

MMRRC Submission

043159-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R5616 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

8997929-9022028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8998195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 51 (H51R)

Ref Sequence

ENSEMBL: ENSMUSP00000020899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020899]

AlphaFold

O35701

Predicted Effect

probably benign
Transcript: ENSMUST00000020899
AA Change: H51R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020899
Gene: ENSMUSG00000020583
AA Change: H51R

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
VWA	76	255	5.06e-51	SMART
EGF	257	300	2.02e-1	SMART
EGF	304	342	4.1e-2	SMART
EGF	346	384	4.22e-4	SMART
EGF	388	426	1.21e-4	SMART
Matrilin_ccoil	433	479	8.93e-14	SMART

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	T	3: 121,566,009 (GRCm39)	D443E	probably benign	Het
Arhgef5	A	G	6: 43,252,874 (GRCm39)	D1037G	probably benign	Het
B3glct	T	A	5: 149,653,399 (GRCm39)	L148*	probably null	Het
Cacna1e	G	A	1: 154,317,940 (GRCm39)	P1481S	probably damaging	Het
Cacna1h	C	A	17: 25,596,641 (GRCm39)	R117L	probably damaging	Het
Cct6b	A	T	11: 82,632,175 (GRCm39)	V271E	probably damaging	Het
Cenpf	A	G	1: 189,389,483 (GRCm39)	S1450P	probably damaging	Het
Cul1	G	A	6: 47,500,722 (GRCm39)	R707H	probably damaging	Het
Dcakd	A	G	11: 102,885,831 (GRCm39)	L191P	possibly damaging	Het
Dhx32	T	C	7: 133,322,957 (GRCm39)	*612W	probably null	Het
Disp1	T	A	1: 182,869,913 (GRCm39)	T836S	probably benign	Het
Dppa4	T	A	16: 48,111,393 (GRCm39)	V126D	probably damaging	Het
Fam98b	A	G	2: 117,098,267 (GRCm39)	T246A	possibly damaging	Het
Fkbp4	A	T	6: 128,410,517 (GRCm39)	V273E	probably damaging	Het
Gpr31b	A	G	17: 13,270,831 (GRCm39)	Y113H	probably damaging	Het
Gpr33	T	C	12: 52,070,377 (GRCm39)	I221V	probably damaging	Het
Klhl1	A	G	14: 96,755,729 (GRCm39)	F9L	probably benign	Het
Larp4b	T	A	13: 9,208,695 (GRCm39)	N449K	probably damaging	Het
Loxhd1	T	C	18: 77,492,647 (GRCm39)	S1363P	probably damaging	Het
Lrrc8a	T	C	2: 30,145,366 (GRCm39)	V60A	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtrf1	T	C	14: 79,638,885 (GRCm39)	C6R	possibly damaging	Het
Myh6	T	C	14: 55,194,038 (GRCm39)	S784G	probably benign	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nipal3	T	C	4: 135,179,715 (GRCm39)	Y401C	probably benign	Het
Pcdhb20	A	G	18: 37,637,585 (GRCm39)	E37G	probably damaging	Het
Pelp1	G	A	11: 70,285,688 (GRCm39)	P727S	possibly damaging	Het
Prkca	T	C	11: 107,869,169 (GRCm39)	D472G	possibly damaging	Het
Ptprg	A	G	14: 12,122,120 (GRCm38)	H328R	probably benign	Het
Rtl1	C	T	12: 109,559,173 (GRCm39)	E889K	unknown	Het
Rubcn	T	C	16: 32,647,293 (GRCm39)	D715G	possibly damaging	Het
Snurf	C	T	7: 59,649,133 (GRCm39)	E15K	possibly damaging	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Srp72	T	G	5: 77,135,781 (GRCm39)	L237R	probably damaging	Het
Syne3	T	C	12: 104,921,937 (GRCm39)	E406G	probably damaging	Het
Tgm2	A	G	2: 157,970,640 (GRCm39)	S340P	probably damaging	Het
Trim41	GCCTAGGCGCCCA	G	11: 48,698,192 (GRCm39)		probably benign	Het
Tsc22d1	T	C	14: 76,653,657 (GRCm39)		probably benign	Het
Tsc22d2	G	T	3: 58,324,583 (GRCm39)		probably benign	Het
Vmn1r42	T	C	6: 89,822,084 (GRCm39)	I162V	possibly damaging	Het
Vmn2r59	A	G	7: 41,708,191 (GRCm39)		probably null	Het
Wnt3	T	C	11: 103,703,596 (GRCm39)		probably null	Het

Other mutations in Matn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01814:Matn3	APN	12	9,002,091 (GRCm39)	missense	probably damaging	0.98
IGL02138:Matn3	APN	12	9,017,638 (GRCm39)	missense	possibly damaging	0.93
IGL02442:Matn3	APN	12	9,017,678 (GRCm39)	nonsense	probably null
IGL02736:Matn3	APN	12	9,005,422 (GRCm39)	missense	possibly damaging	0.53
R0091:Matn3	UTSW	12	9,002,105 (GRCm39)	missense	probably damaging	0.98
R0585:Matn3	UTSW	12	9,011,103 (GRCm39)	splice site	probably benign
R0615:Matn3	UTSW	12	9,013,594 (GRCm39)	missense	probably damaging	1.00
R1424:Matn3	UTSW	12	9,011,132 (GRCm39)	missense	possibly damaging	0.91
R1571:Matn3	UTSW	12	9,005,466 (GRCm39)	missense	probably damaging	1.00
R1844:Matn3	UTSW	12	9,017,662 (GRCm39)	missense	possibly damaging	0.90
R1865:Matn3	UTSW	12	9,002,041 (GRCm39)	missense	probably damaging	1.00
R1977:Matn3	UTSW	12	9,011,110 (GRCm39)	splice site	probably benign
R3015:Matn3	UTSW	12	9,002,217 (GRCm39)	missense	probably damaging	0.97
R3018:Matn3	UTSW	12	9,013,578 (GRCm39)	missense	probably benign	0.02
R5180:Matn3	UTSW	12	9,005,374 (GRCm39)	missense	probably benign	0.38
R5308:Matn3	UTSW	12	9,002,308 (GRCm39)	frame shift	probably null
R5816:Matn3	UTSW	12	9,020,571 (GRCm39)	missense	probably damaging	1.00
R5849:Matn3	UTSW	12	9,008,829 (GRCm39)	missense	probably benign	0.10
R7065:Matn3	UTSW	12	9,002,472 (GRCm39)	missense	probably damaging	0.99
R7206:Matn3	UTSW	12	9,011,170 (GRCm39)	missense	probably benign	0.01
R8512:Matn3	UTSW	12	9,011,183 (GRCm39)	missense	probably benign	0.11
R8737:Matn3	UTSW	12	9,017,665 (GRCm39)	missense	possibly damaging	0.90
R8951:Matn3	UTSW	12	9,002,172 (GRCm39)	missense	probably damaging	0.99
R9022:Matn3	UTSW	12	9,002,355 (GRCm39)	missense	probably damaging	1.00
R9328:Matn3	UTSW	12	9,002,033 (GRCm39)	missense	possibly damaging	0.78
RF001:Matn3	UTSW	12	9,008,797 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GGGACCTTTAAATTGGTTGCC -3'
(R):5'- GGCACGTAGATGTAGCATGC -3'

Sequencing Primer
(F):5'- TATGGCTGAGACCTCTGACC -3'
(R):5'- CACGTAGATGTAGCATGCTACGTTC -3'

Posted On

2016-11-08