Mutagenetix > Incidental Mutation

Incidental Mutation 'R7206:Matn3'

560643

Institutional Source

Beutler Lab

Gene Symbol

Matn3

Ensembl Gene

ENSMUSG00000020583

Gene Name

matrilin 3

Synonyms

MMRRC Submission

045284-MU

Accession Numbers

Essential gene?

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

Stock #

R7206 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8997929-9022028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9011170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 360 (N360K)

Ref Sequence

ENSEMBL: ENSMUSP00000020899 (fasta)

Gene Model

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

AlphaFold

O35701

Predicted Effect

probably benign
Transcript: ENSMUST00000020899
AA Change: N360K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020899
Gene: ENSMUSG00000020583
AA Change: N360K

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (87/88)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	G	A	3: 59,932,662 (GRCm39)	M392I	probably benign	Het
Aadacl4fm2	T	A	4: 144,285,211 (GRCm39)	D142V	probably damaging	Het
Acr	T	C	15: 89,458,374 (GRCm39)	S352P	probably benign	Het
Adam6a	T	C	12: 113,509,654 (GRCm39)	C676R	probably damaging	Het
Adgra3	T	C	5: 50,164,238 (GRCm39)	D247G	probably damaging	Het
Agxt2	A	T	15: 10,377,542 (GRCm39)	E147D	probably damaging	Het
Atp2a1	T	C	7: 126,047,144 (GRCm39)	T805A	probably benign	Het
Atp8b4	T	C	2: 126,300,212 (GRCm39)	S106G	probably damaging	Het
Ccdc170	T	A	10: 4,464,120 (GRCm39)	M87K	possibly damaging	Het
Ccnl2	T	G	4: 155,905,431 (GRCm39)	V287G	possibly damaging	Het
Ccr6	A	T	17: 8,475,781 (GRCm39)	M329L	probably benign	Het
Cflar	G	T	1: 58,780,150 (GRCm39)	M248I		Het
Cib4	A	T	5: 30,703,110 (GRCm39)	L5*	probably null	Het
Col27a1	A	T	4: 63,153,583 (GRCm39)	Y645F	probably benign	Het
Cxcr2	A	G	1: 74,198,213 (GRCm39)	T236A	possibly damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah7a	A	T	1: 53,737,792 (GRCm39)	L47*	probably null	Het
Dnajb6	A	C	5: 29,986,335 (GRCm39)	K301T	possibly damaging	Het
Dpf2	T	A	19: 5,954,571 (GRCm39)	I157F	possibly damaging	Het
Drd4	G	A	7: 140,872,032 (GRCm39)	G28R	probably damaging	Het
Dus3l	A	T	17: 57,074,807 (GRCm39)	I310F	probably damaging	Het
Dusp29	A	G	14: 21,727,102 (GRCm39)	V182A	probably damaging	Het
Eef1akmt3	A	G	10: 126,876,862 (GRCm39)	L95P	probably damaging	Het
Fabp7	C	T	10: 57,661,087 (GRCm39)		probably benign	Het
Fam135a	T	C	1: 24,069,354 (GRCm39)	N505S	probably benign	Het
Fam216b	C	A	14: 78,322,567 (GRCm39)	D46Y	probably damaging	Het
Gata6	C	T	18: 11,054,850 (GRCm39)	R260C	probably damaging	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Golgb1	A	G	16: 36,734,111 (GRCm39)	I1160M	probably benign	Het
Hjv	A	T	3: 96,435,444 (GRCm39)	D234V	probably damaging	Het
Kiss1	A	G	1: 133,255,063 (GRCm39)	K26E	probably benign	Het
Knl1	T	A	2: 118,899,780 (GRCm39)	F494I	probably benign	Het
Ktn1	T	C	14: 47,932,985 (GRCm39)	L713S	probably damaging	Het
Loxhd1	A	G	18: 77,529,513 (GRCm39)	D2052G	probably damaging	Het
Lpo	A	C	11: 87,698,249 (GRCm39)	L582R	probably damaging	Het
Map2k3	A	G	11: 60,834,406 (GRCm39)	T125A		Het
Mlip	A	T	9: 77,072,144 (GRCm39)	V237E	probably damaging	Het
Mms22l	T	C	4: 24,591,146 (GRCm39)	V999A	probably benign	Het
Mn1	A	G	5: 111,568,378 (GRCm39)	K783E	possibly damaging	Het
Myo1h	A	T	5: 114,457,836 (GRCm39)	K132*	probably null	Het
Nle1	A	G	11: 82,795,757 (GRCm39)	V230A	probably benign	Het
Or1ak2	T	A	2: 36,827,784 (GRCm39)	Y218N	probably damaging	Het
Or1e1b-ps1	A	T	11: 73,845,647 (GRCm39)	I44F	probably benign	Het
Or4a68	T	C	2: 89,270,801 (GRCm39)		probably benign	Het
Or4f62	T	G	2: 111,986,804 (GRCm39)	C169W	probably damaging	Het
Or51f23	T	C	7: 102,452,891 (GRCm39)	S69P	probably damaging	Het
Or7e169	C	T	9: 19,757,856 (GRCm39)	D20N	probably damaging	Het
Ormdl2	T	A	10: 128,656,284 (GRCm39)	H7L	possibly damaging	Het
Pam	A	G	1: 97,823,757 (GRCm39)	S225P	probably damaging	Het
Pan2	C	A	10: 128,150,414 (GRCm39)	Y719*	probably null	Het
Ppfia4	T	C	1: 134,255,127 (GRCm39)	S243G	probably benign	Het
Ppig	T	G	2: 69,571,910 (GRCm39)	S210A	unknown	Het
Ppwd1	A	T	13: 104,350,106 (GRCm39)	N426K	probably damaging	Het
Prxl2a	T	A	14: 40,726,142 (GRCm39)	M12L	probably benign	Het
Rnf10	T	G	5: 115,382,180 (GRCm39)	D675A	probably benign	Het
Rrp12	A	T	19: 41,866,478 (GRCm39)	L619H	probably damaging	Het
Rsph10b	C	T	5: 143,898,010 (GRCm39)	T497I	possibly damaging	Het
Scnm1	A	T	3: 95,041,205 (GRCm39)	M1K	probably null	Het
Scp2	G	T	4: 107,931,638 (GRCm39)	D332E	probably benign	Het
Senp3	T	C	11: 69,569,557 (GRCm39)	I314V	probably benign	Het
Sfmbt1	T	A	14: 30,533,330 (GRCm39)		probably null	Het
Slc44a2	T	C	9: 21,258,103 (GRCm39)	F451S	probably damaging	Het
Slfn1	A	T	11: 83,012,837 (GRCm39)	M318L	probably benign	Het
Syne2	C	T	12: 76,051,531 (GRCm39)	S4087L	probably benign	Het
Syt7	A	G	19: 10,395,337 (GRCm39)	Y49C	probably damaging	Het
Tas2r134	T	C	2: 51,518,120 (GRCm39)	Y200H	probably benign	Het
Tgfbr1	A	T	4: 47,402,941 (GRCm39)	H315L	probably damaging	Het
Tmem184c	A	G	8: 78,323,206 (GRCm39)	V552A	possibly damaging	Het
Tnxb	A	G	17: 34,923,075 (GRCm39)	R2553G	possibly damaging	Het
Tomm40	C	G	7: 19,444,861 (GRCm39)	R173S	probably benign	Het
Tonsl	T	C	15: 76,517,851 (GRCm39)	D650G	probably damaging	Het
Tpo	G	C	12: 30,153,133 (GRCm39)	S407W	possibly damaging	Het
Trank1	T	C	9: 111,174,583 (GRCm39)		probably null	Het
Trp53tg5	T	C	2: 164,313,378 (GRCm39)	E99G	probably damaging	Het
Tubb2a	C	A	13: 34,259,505 (GRCm39)	S95I	possibly damaging	Het
Vav2	C	A	2: 27,226,731 (GRCm39)	R114L	probably benign	Het
Vmn1r172	A	T	7: 23,359,582 (GRCm39)	I156L	possibly damaging	Het
Vmn1r238	A	G	18: 3,122,623 (GRCm39)	Y264H	possibly damaging	Het
Vmn2r26	T	A	6: 124,016,727 (GRCm39)	M397K	probably benign	Het
Vmn2r73	T	C	7: 85,522,075 (GRCm39)	N88S	probably benign	Het
Vps13a	T	C	19: 16,731,662 (GRCm39)	N150S	probably damaging	Het
Vps35	A	T	8: 86,014,350 (GRCm39)	Y100N	probably damaging	Het
Vps8	A	C	16: 21,276,171 (GRCm39)	I235L	probably damaging	Het
Yipf2	T	A	9: 21,501,657 (GRCm39)	H157L	probably damaging	Het
Zfp354a	A	T	11: 50,961,073 (GRCm39)	H426L	probably damaging	Het
Zfp503	G	T	14: 22,035,553 (GRCm39)	S454R	possibly damaging	Het
Zfp619	C	T	7: 39,184,824 (GRCm39)	R285C	probably benign	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
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'- TTTGCCTAGTCTCCAGCCAG -3'
(R):5'- CTGAGTCTGAATCTTTAAGCCCC -3'

Sequencing Primer
(F):5'- AGACAGGATTTCTCTGTAGAGCCC -3'
(R):5'- TGAATCTTTAAGCCCCCACCC -3'

Posted On

2019-06-26