Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02288:Matn2'

290020

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 #

IGL02288

Quality Score

Status

Chromosome

Chromosomal Location

34306827-34436388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34422532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 540 (C540S)

Ref Sequence

ENSEMBL: ENSMUSP00000154040 (fasta)

Gene Model

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

AlphaFold

O08746

Predicted Effect

probably damaging
Transcript: ENSMUST00000022947
AA Change: C540S

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

SMART Domains

Protein: ENSMUSP00000022947
Gene: ENSMUSG00000022324
AA Change: C540S

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

possibly damaging
Transcript: ENSMUST00000163455
AA Change: C540S

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128202
Gene: ENSMUSG00000022324
AA Change: C540S

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: C540S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228570
AA Change: C540S

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid1b	A	G	17: 5,314,315 (GRCm39)	M706V	possibly damaging	Het
Clec1b	T	A	6: 129,374,586 (GRCm39)	D3E	probably damaging	Het
Dqx1	A	G	6: 83,037,309 (GRCm39)	H324R	probably damaging	Het
Ep400	A	G	5: 110,831,702 (GRCm39)		probably benign	Het
Ewsr1	T	C	11: 5,043,689 (GRCm39)	T32A	possibly damaging	Het
Exoc1	C	A	5: 76,693,160 (GRCm39)	H349N	probably benign	Het
Fgg	T	C	3: 82,915,460 (GRCm39)	Y26H	probably benign	Het
Gpld1	T	A	13: 25,163,666 (GRCm39)	Y41*	probably null	Het
Gpr152	A	G	19: 4,193,694 (GRCm39)	M412V	probably benign	Het
Nars1	T	C	18: 64,643,606 (GRCm39)		probably benign	Het
Ncor1	A	G	11: 62,240,229 (GRCm39)	I914T	probably benign	Het
Or1e33	A	G	11: 73,738,207 (GRCm39)	V248A	possibly damaging	Het
Or4k42	A	T	2: 111,320,065 (GRCm39)	F146Y	probably benign	Het
Rev3l	T	C	10: 39,704,212 (GRCm39)	L2086P	probably benign	Het
Snrnp200	T	A	2: 127,071,815 (GRCm39)	I1165N	probably damaging	Het
Spindoc	G	A	19: 7,335,667 (GRCm39)	Q374*	probably null	Het
Thsd1	A	C	8: 22,749,565 (GRCm39)	D751A	probably damaging	Het
Ttll4	G	A	1: 74,718,560 (GRCm39)	R137H	probably benign	Het
Vmn2r70	T	A	7: 85,214,342 (GRCm39)	Y270F	probably benign	Het
Zscan20	A	G	4: 128,480,436 (GRCm39)	I685T	probably damaging	Het

Other mutations in Matn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Matn2	APN	15	34,428,616 (GRCm39)	missense	probably damaging	1.00
IGL00392:Matn2	APN	15	34,403,002 (GRCm39)	missense	probably benign	0.00
IGL01475:Matn2	APN	15	34,316,671 (GRCm39)	missense	possibly damaging	0.94
IGL02223:Matn2	APN	15	34,423,864 (GRCm39)	missense	probably benign	0.00
IGL02252:Matn2	APN	15	34,316,736 (GRCm39)	missense	probably damaging	0.98
IGL02738:Matn2	APN	15	34,388,885 (GRCm39)	missense	probably benign	0.07
IGL02927:Matn2	APN	15	34,355,801 (GRCm39)	missense	probably damaging	1.00
IGL03331:Matn2	APN	15	34,345,503 (GRCm39)	missense	probably damaging	1.00
Engorged	UTSW	15	34,426,380 (GRCm39)	missense	probably damaging	1.00
PIT4260001:Matn2	UTSW	15	34,428,877 (GRCm39)	missense	possibly damaging	0.78
R0124:Matn2	UTSW	15	34,426,297 (GRCm39)	splice site	probably benign
R0422:Matn2	UTSW	15	34,435,917 (GRCm39)	splice site	probably null
R0449:Matn2	UTSW	15	34,428,687 (GRCm39)	missense	probably damaging	1.00
R0606:Matn2	UTSW	15	34,345,296 (GRCm39)	missense	probably damaging	1.00
R0655:Matn2	UTSW	15	34,345,346 (GRCm39)	missense	probably benign	0.03
R0885:Matn2	UTSW	15	34,316,751 (GRCm39)	missense	possibly damaging	0.67
R1384:Matn2	UTSW	15	34,409,956 (GRCm39)	missense	probably benign	0.00
R1603:Matn2	UTSW	15	34,388,914 (GRCm39)	missense	probably damaging	1.00
R1667:Matn2	UTSW	15	34,378,878 (GRCm39)	missense	probably damaging	0.99
R1720:Matn2	UTSW	15	34,345,420 (GRCm39)	nonsense	probably null
R1772:Matn2	UTSW	15	34,428,931 (GRCm39)	missense	probably damaging	0.99
R2037:Matn2	UTSW	15	34,433,263 (GRCm39)	missense	probably benign	0.00
R2107:Matn2	UTSW	15	34,423,905 (GRCm39)	missense	probably damaging	1.00
R2240:Matn2	UTSW	15	34,433,209 (GRCm39)	missense	probably damaging	1.00
R3933:Matn2	UTSW	15	34,345,566 (GRCm39)	splice site	probably null
R3963:Matn2	UTSW	15	34,388,937 (GRCm39)	nonsense	probably null
R4648:Matn2	UTSW	15	34,428,679 (GRCm39)	missense	probably damaging	1.00
R4695:Matn2	UTSW	15	34,403,071 (GRCm39)	missense	probably damaging	1.00
R4817:Matn2	UTSW	15	34,423,945 (GRCm39)	missense	probably damaging	1.00
R4935:Matn2	UTSW	15	34,428,831 (GRCm39)	missense	probably damaging	1.00
R5105:Matn2	UTSW	15	34,355,814 (GRCm39)	missense	possibly damaging	0.95
R5177:Matn2	UTSW	15	34,433,660 (GRCm39)	missense	possibly damaging	0.58
R5717:Matn2	UTSW	15	34,399,237 (GRCm39)	nonsense	probably null
R5760:Matn2	UTSW	15	34,355,753 (GRCm39)	missense	possibly damaging	0.46
R5776:Matn2	UTSW	15	34,431,765 (GRCm39)	missense	probably damaging	1.00
R5842:Matn2	UTSW	15	34,399,202 (GRCm39)	missense	probably damaging	0.99
R5917:Matn2	UTSW	15	34,409,912 (GRCm39)	nonsense	probably null
R5964:Matn2	UTSW	15	34,410,311 (GRCm39)	missense	probably damaging	1.00
R6265:Matn2	UTSW	15	34,399,301 (GRCm39)	missense	probably damaging	1.00
R6272:Matn2	UTSW	15	34,355,753 (GRCm39)	missense	possibly damaging	0.46
R6332:Matn2	UTSW	15	34,423,901 (GRCm39)	missense	probably benign	0.00
R6457:Matn2	UTSW	15	34,426,380 (GRCm39)	missense	probably damaging	1.00
R7351:Matn2	UTSW	15	34,345,482 (GRCm39)	missense	probably damaging	0.97
R7660:Matn2	UTSW	15	34,423,874 (GRCm39)	nonsense	probably null
R7660:Matn2	UTSW	15	34,403,092 (GRCm39)	missense	probably benign	0.00
R7775:Matn2	UTSW	15	34,399,223 (GRCm39)	missense	possibly damaging	0.94
R7778:Matn2	UTSW	15	34,399,223 (GRCm39)	missense	possibly damaging	0.94
R8007:Matn2	UTSW	15	34,426,315 (GRCm39)	missense	probably benign	0.01
R8059:Matn2	UTSW	15	34,345,481 (GRCm39)	missense	probably damaging	1.00
R8174:Matn2	UTSW	15	34,422,555 (GRCm39)	missense	probably benign	0.30
R8331:Matn2	UTSW	15	34,428,827 (GRCm39)	missense	probably damaging	1.00
R8354:Matn2	UTSW	15	34,378,843 (GRCm39)	missense	probably damaging	0.98
R8377:Matn2	UTSW	15	34,345,511 (GRCm39)	missense	probably damaging	1.00
R8393:Matn2	UTSW	15	34,355,748 (GRCm39)	missense	possibly damaging	0.92
R8532:Matn2	UTSW	15	34,316,699 (GRCm39)	missense	probably benign	0.42
R8555:Matn2	UTSW	15	34,423,951 (GRCm39)	missense	probably benign	0.03
R8756:Matn2	UTSW	15	34,423,876 (GRCm39)	missense	possibly damaging	0.94
R8973:Matn2	UTSW	15	34,433,196 (GRCm39)	missense	probably benign	0.01
R9198:Matn2	UTSW	15	34,423,924 (GRCm39)	missense	probably damaging	0.99
R9220:Matn2	UTSW	15	34,410,325 (GRCm39)	missense	possibly damaging	0.58
R9478:Matn2	UTSW	15	34,345,242 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16