Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00264:Matn2'

4106

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Matn2

Ensembl Gene

ENSMUSG00000022324

Gene Name

matrilin 2

Synonyms

Crtm2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00264

Quality Score

Status

Chromosome

Chromosomal Location

34306677-34436273 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34428470 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 660 (I660T)

Ref Sequence

ENSEMBL: ENSMUSP00000154572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022947] [ENSMUST00000163455] [ENSMUST00000227759] [ENSMUST00000228570]

AlphaFold

O08746

Predicted Effect

probably damaging
Transcript: ENSMUST00000022947
AA Change: I660T

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

SMART Domains

Protein: ENSMUSP00000022947
Gene: ENSMUSG00000022324
AA Change: I660T

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
VWA	55	237	1.99e-49	SMART
EGF	241	278	6.86e-4	SMART
EGF	282	319	5.49e-3	SMART
EGF	323	360	7.88e-4	SMART
EGF	364	401	6.76e-3	SMART
EGF	405	442	4.39e-2	SMART
EGF	446	483	9.41e-2	SMART
EGF	487	524	1.24e-1	SMART
EGF	528	565	2.23e-3	SMART
EGF	569	606	8.44e-4	SMART
EGF	610	647	9.55e-3	SMART
VWA	653	831	1.14e-49	SMART
Matrilin_ccoil	889	935	4.78e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000163455
AA Change: I660T

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

SMART Domains

Protein: ENSMUSP00000128202
Gene: ENSMUSG00000022324
AA Change: I660T

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
VWA	55	237	1.99e-49	SMART
EGF	241	278	6.86e-4	SMART
EGF	282	319	5.49e-3	SMART
EGF	323	360	7.88e-4	SMART
EGF	364	401	6.76e-3	SMART
EGF	405	442	4.39e-2	SMART
EGF	446	483	9.41e-2	SMART
EGF	487	524	1.24e-1	SMART
EGF	528	565	2.23e-3	SMART
EGF	569	606	8.44e-4	SMART
EGF	610	647	9.55e-3	SMART
VWA	653	831	1.14e-49	SMART
Matrilin_ccoil	908	955	7.77e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000227759
AA Change: I660T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228570
AA Change: I660T

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

Coding Region Coverage

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 the 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 five von Willebrand factor A domains. The specific function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are healthy and fertile with no obvious abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,179,219	V172A	probably benign	Het
Actr3	T	G	1: 125,397,229	I319L	probably benign	Het
Akap7	C	T	10: 25,171,240	D20N	probably benign	Het
Ambra1	T	A	2: 91,911,589	S1070T	probably benign	Het
Arhgef9	T	C	X: 95,081,631		probably null	Het
Ascc3	T	G	10: 50,714,435	V1083G	probably damaging	Het
Asns	T	A	6: 7,680,179	E312D	probably damaging	Het
Bpifc	A	C	10: 85,960,528	V472G	possibly damaging	Het
Ccdc71	T	A	9: 108,463,038	S17T	probably damaging	Het
Cebpzos	T	C	17: 78,918,348		probably benign	Het
Cfi	T	C	3: 129,873,095	I489T	probably damaging	Het
Chrm2	T	A	6: 36,523,391	F61Y	probably damaging	Het
Cpxm1	T	C	2: 130,395,943	Y149C	probably damaging	Het
Dnah6	A	G	6: 73,195,737	I246T	probably benign	Het
Ereg	C	A	5: 91,074,779	S7Y	probably benign	Het
Ghsr	T	A	3: 27,374,873	L349Q	possibly damaging	Het
Gm10754	A	G	10: 97,682,412		probably benign	Het
Gm8237	A	T	14: 5,864,475	L29H	probably benign	Het
Hexim2	A	G	11: 103,138,455	E111G	probably damaging	Het
Itga1	A	T	13: 114,992,363	N586K	possibly damaging	Het
Kat6b	A	G	14: 21,668,559	D1102G	probably benign	Het
Kif27	A	T	13: 58,337,604	M514K	probably benign	Het
Mki67	C	A	7: 135,707,820	G301*	probably null	Het
Olfr1451	A	G	19: 12,999,319	Y111C	probably damaging	Het
Olfr1480	A	C	19: 13,529,850	Y103S	probably damaging	Het
Olfr364-ps1	T	C	2: 37,147,067	F285S	probably damaging	Het
Olfr539	T	A	7: 140,667,941	I211N	probably benign	Het
Pcdhb8	A	T	18: 37,355,473	H68L	probably benign	Het
Pkhd1l1	T	C	15: 44,491,029	V272A	possibly damaging	Het
Pstpip2	T	C	18: 77,871,559		probably benign	Het
Rdh14	G	T	12: 10,391,134	G99W	probably damaging	Het
Sra1	A	T	18: 36,668,739	S99R	probably benign	Het
Tbrg1	G	T	9: 37,651,041	N280K	probably benign	Het
Ugt8a	A	G	3: 125,914,636		probably null	Het
Usp40	A	T	1: 88,004,238		probably benign	Het
Vmn1r45	T	A	6: 89,933,664	Y108F	probably damaging	Het
Zfp521	A	G	18: 13,846,502	Y285H	probably benign	Het

Other mutations in Matn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Matn2	APN	15	34402856	missense	probably benign	0.00
IGL01475:Matn2	APN	15	34316525	missense	possibly damaging	0.94
IGL02223:Matn2	APN	15	34423718	missense	probably benign	0.00
IGL02252:Matn2	APN	15	34316590	missense	probably damaging	0.98
IGL02288:Matn2	APN	15	34422386	missense	probably damaging	1.00
IGL02738:Matn2	APN	15	34388739	missense	probably benign	0.07
IGL02927:Matn2	APN	15	34355655	missense	probably damaging	1.00
IGL03331:Matn2	APN	15	34345357	missense	probably damaging	1.00
Engorged	UTSW	15	34426234	missense	probably damaging	1.00
PIT4260001:Matn2	UTSW	15	34428731	missense	possibly damaging	0.78
R0124:Matn2	UTSW	15	34426151	splice site	probably benign
R0422:Matn2	UTSW	15	34435771	splice site	probably null
R0449:Matn2	UTSW	15	34428541	missense	probably damaging	1.00
R0606:Matn2	UTSW	15	34345150	missense	probably damaging	1.00
R0655:Matn2	UTSW	15	34345200	missense	probably benign	0.03
R0885:Matn2	UTSW	15	34316605	missense	possibly damaging	0.67
R1384:Matn2	UTSW	15	34409810	missense	probably benign	0.00
R1603:Matn2	UTSW	15	34388768	missense	probably damaging	1.00
R1667:Matn2	UTSW	15	34378732	missense	probably damaging	0.99
R1720:Matn2	UTSW	15	34345274	nonsense	probably null
R1772:Matn2	UTSW	15	34428785	missense	probably damaging	0.99
R2037:Matn2	UTSW	15	34433117	missense	probably benign	0.00
R2107:Matn2	UTSW	15	34423759	missense	probably damaging	1.00
R2240:Matn2	UTSW	15	34433063	missense	probably damaging	1.00
R3933:Matn2	UTSW	15	34345420	splice site	probably null
R3963:Matn2	UTSW	15	34388791	nonsense	probably null
R4648:Matn2	UTSW	15	34428533	missense	probably damaging	1.00
R4695:Matn2	UTSW	15	34402925	missense	probably damaging	1.00
R4817:Matn2	UTSW	15	34423799	missense	probably damaging	1.00
R4935:Matn2	UTSW	15	34428685	missense	probably damaging	1.00
R5105:Matn2	UTSW	15	34355668	missense	possibly damaging	0.95
R5177:Matn2	UTSW	15	34433514	missense	possibly damaging	0.58
R5717:Matn2	UTSW	15	34399091	nonsense	probably null
R5760:Matn2	UTSW	15	34355607	missense	possibly damaging	0.46
R5776:Matn2	UTSW	15	34431619	missense	probably damaging	1.00
R5842:Matn2	UTSW	15	34399056	missense	probably damaging	0.99
R5917:Matn2	UTSW	15	34409766	nonsense	probably null
R5964:Matn2	UTSW	15	34410165	missense	probably damaging	1.00
R6265:Matn2	UTSW	15	34399155	missense	probably damaging	1.00
R6272:Matn2	UTSW	15	34355607	missense	possibly damaging	0.46
R6332:Matn2	UTSW	15	34423755	missense	probably benign	0.00
R6457:Matn2	UTSW	15	34426234	missense	probably damaging	1.00
R7351:Matn2	UTSW	15	34345336	missense	probably damaging	0.97
R7660:Matn2	UTSW	15	34402946	missense	probably benign	0.00
R7660:Matn2	UTSW	15	34423728	nonsense	probably null
R7775:Matn2	UTSW	15	34399077	missense	possibly damaging	0.94
R7778:Matn2	UTSW	15	34399077	missense	possibly damaging	0.94
R8007:Matn2	UTSW	15	34426169	missense	probably benign	0.01
R8059:Matn2	UTSW	15	34345335	missense	probably damaging	1.00
R8174:Matn2	UTSW	15	34422409	missense	probably benign	0.30
R8331:Matn2	UTSW	15	34428681	missense	probably damaging	1.00
R8354:Matn2	UTSW	15	34378697	missense	probably damaging	0.98
R8377:Matn2	UTSW	15	34345365	missense	probably damaging	1.00
R8393:Matn2	UTSW	15	34355602	missense	possibly damaging	0.92
R8532:Matn2	UTSW	15	34316553	missense	probably benign	0.42
R8555:Matn2	UTSW	15	34423805	missense	probably benign	0.03
R8756:Matn2	UTSW	15	34423730	missense	possibly damaging	0.94
R8973:Matn2	UTSW	15	34433050	missense	probably benign	0.01
R9198:Matn2	UTSW	15	34423778	missense	probably damaging	0.99
R9220:Matn2	UTSW	15	34410179	missense	possibly damaging	0.58
R9478:Matn2	UTSW	15	34345096	missense	probably damaging	1.00

Posted On

2012-04-20