Mutagenetix > Incidental Mutation

Incidental Mutation 'R8737:Matn3'

663104

Institutional Source

Beutler Lab

Gene Symbol

Matn3

Ensembl Gene

ENSMUSG00000020583

Gene Name

matrilin 3

Synonyms

MMRRC Submission

068584-MU

Accession Numbers

Essential gene?

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

Stock #

R8737 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8997929-9022028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 9017665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 439 (D439G)

Ref Sequence

ENSEMBL: ENSMUSP00000020899 (fasta)

Gene Model

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

AlphaFold

O35701

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020899
AA Change: D439G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020899
Gene: ENSMUSG00000020583
AA Change: D439G

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

Meta Mutation Damage Score

0.4519

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (67/67)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,308,810 (GRCm39)	D375V	probably damaging	Het
Agfg1	C	G	1: 82,871,243 (GRCm39)	P492A	probably benign	Het
Asb13	T	C	13: 3,692,089 (GRCm39)	V23A	probably damaging	Het
Atxn1l	A	T	8: 110,460,230 (GRCm39)	C11S	probably damaging	Het
Bbs9	T	G	9: 22,590,244 (GRCm39)	S661A	probably benign	Het
Btrc	T	C	19: 45,496,198 (GRCm39)	V211A	probably damaging	Het
Camk1g	T	C	1: 193,030,794 (GRCm39)		probably null	Het
Capn11	A	T	17: 45,943,801 (GRCm39)	L578I	probably benign	Het
Cd82	A	T	2: 93,252,239 (GRCm39)	I124N	probably damaging	Het
Cdkl4	G	T	17: 80,858,258 (GRCm39)	H120Q	probably benign	Het
Cftr	T	C	6: 18,319,728 (GRCm39)	V1393A	probably damaging	Het
Col14a1	A	T	15: 55,318,706 (GRCm39)	R1402*	probably null	Het
Col6a3	T	G	1: 90,727,747 (GRCm39)	Y1960S	probably benign	Het
Col9a1	A	T	1: 24,224,127 (GRCm39)	Y103F	unknown	Het
Cux1	A	G	5: 136,311,796 (GRCm39)	V1180A	probably damaging	Het
Cyp17a1	A	T	19: 46,658,166 (GRCm39)	C249S	probably benign	Het
Derl1	A	T	15: 57,755,568 (GRCm39)	W42R	probably benign	Het
Dhx36	C	A	3: 62,386,747 (GRCm39)	M668I	probably benign	Het
Dnah6	T	C	6: 73,044,428 (GRCm39)	K3228E	possibly damaging	Het
Dst	C	T	1: 34,267,750 (GRCm39)	A3050V	probably benign	Het
Efr3b	A	G	12: 4,049,594 (GRCm39)	Y70H	probably damaging	Het
Epb42	T	A	2: 120,856,324 (GRCm39)	T407S	possibly damaging	Het
Fads2b	T	A	2: 85,324,387 (GRCm39)		probably benign	Het
Fap	T	A	2: 62,342,777 (GRCm39)	I608L	probably benign	Het
Fblim1	A	G	4: 141,310,387 (GRCm39)	Y292H	probably benign	Het
Fmod	A	G	1: 133,968,043 (GRCm39)	I28V	probably benign	Het
Gad2	T	A	2: 22,524,985 (GRCm39)	Y256*	probably null	Het
Gapdh	G	A	6: 125,139,017 (GRCm39)	A353V	probably benign	Het
Gm5460	T	G	14: 33,739,149 (GRCm39)	W44G	unknown	Het
Ino80e	A	T	7: 126,460,974 (GRCm39)	V91D	probably benign	Het
Iqgap2	G	A	13: 95,802,258 (GRCm39)	P896S	probably damaging	Het
Kif26b	T	A	1: 178,692,430 (GRCm39)	I457N	probably damaging	Het
Klc2	T	A	19: 5,168,477 (GRCm39)		probably benign	Het
Ldlrap1	C	A	4: 134,495,147 (GRCm39)	W22L	probably benign	Het
Met	T	C	6: 17,540,510 (GRCm39)	L812P	probably benign	Het
Mki67	A	T	7: 135,315,504 (GRCm39)	I90N	probably damaging	Het
Mptx2	A	C	1: 173,105,256 (GRCm39)	S12A	probably benign	Het
Mrgpra9	G	T	7: 46,885,624 (GRCm39)	N14K	probably benign	Het
Nbeal2	G	A	9: 110,456,949 (GRCm39)	R2350C	probably damaging	Het
Nsmaf	A	G	4: 6,396,748 (GRCm39)	I913T	probably benign	Het
Nuggc	G	T	14: 65,882,535 (GRCm39)	C760F	probably benign	Het
Or10a3m	T	A	7: 108,312,964 (GRCm39)	F135I	probably damaging	Het
Or1j13	T	A	2: 36,369,629 (GRCm39)	N171I	probably benign	Het
Or2y1f	T	A	11: 49,184,965 (GRCm39)	F272L	probably damaging	Het
Or4c110	C	A	2: 88,832,351 (GRCm39)	E94*	probably null	Het
Or51b6	A	G	7: 103,555,913 (GRCm39)	N86S		Het
Pdgfrb	C	T	18: 61,214,073 (GRCm39)	P953S	probably damaging	Het
Pemt	T	G	11: 59,874,285 (GRCm39)	I102L	probably benign	Het
Pla2g4c	G	T	7: 13,069,154 (GRCm39)	M109I	probably benign	Het
Pla2g4d	T	A	2: 120,100,466 (GRCm39)	Y622F	probably damaging	Het
Pmpca	T	A	2: 26,283,531 (GRCm39)	V400D	probably damaging	Het
Pnpt1	G	C	11: 29,104,815 (GRCm39)		probably null	Het
Pramel29	A	C	4: 143,935,192 (GRCm39)	L183R	probably damaging	Het
Prrc1	T	A	18: 57,496,408 (GRCm39)	S120T	possibly damaging	Het
Prrx2	T	G	2: 30,768,578 (GRCm39)	V135G	probably damaging	Het
Qrfprl	A	G	6: 65,433,260 (GRCm39)	K360R	probably benign	Het
Recql4	T	C	15: 76,593,054 (GRCm39)	N352S	probably benign	Het
Sftpa1	T	C	14: 40,856,044 (GRCm39)	S130P	probably damaging	Het
Slc35e2	T	C	4: 155,695,042 (GRCm39)	L136P	probably benign	Het
Tarbp2	T	A	15: 102,430,202 (GRCm39)	S155T	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tmem116	A	T	5: 121,620,433 (GRCm39)	Y146F		Het
Ttc17	C	T	2: 94,206,374 (GRCm39)		probably null	Het
Vmn2r114	G	A	17: 23,529,142 (GRCm39)	T320I	probably benign	Het
Vmn2r69	A	T	7: 85,055,783 (GRCm39)	V785D	probably damaging	Het
Vmn2r89	T	A	14: 51,693,722 (GRCm39)	N357K	probably damaging	Het
Zfp811	A	T	17: 33,017,197 (GRCm39)	L281Q	possibly damaging	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
R5616:Matn3	UTSW	12	8,998,195 (GRCm39)	missense	probably benign
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
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'- GTGAATTATAGATTCCACGGTTTGC -3'
(R):5'- AGATAGGAGGCCCTGTAATCCC -3'

Sequencing Primer
(F):5'- ATAGATTCCACGGTTTGCTATCG -3'
(R):5'- ACTTATCAAGGTTGAGGCTAGCC -3'

Posted On

2021-03-08