Mutagenetix > Incidental Mutation

Incidental Mutation 'R4648:Matn2'

350523

Institutional Source

Beutler Lab

Gene Symbol

Matn2

Ensembl Gene

ENSMUSG00000022324

Gene Name

matrilin 2

Synonyms

Crtm2

MMRRC Submission

041909-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4648 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34306827-34436388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34428679 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 681 (I681T)

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: I681T

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

SMART Domains

Protein: ENSMUSP00000022947
Gene: ENSMUSG00000022324
AA Change: I681T

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: I681T

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

SMART Domains

Protein: ENSMUSP00000128202
Gene: ENSMUSG00000022324
AA Change: I681T

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: I681T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228570
AA Change: I681T

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,056,228 (GRCm39)	Y232F	probably benign	Het
2310079G19Rik	T	C	16: 88,424,255 (GRCm39)	S79G	probably benign	Het
4930568D16Rik	T	A	2: 35,244,458 (GRCm39)	Y298F	probably damaging	Het
Alpk2	A	G	18: 65,482,953 (GRCm39)	F352L	probably damaging	Het
Angpt1	T	A	15: 42,539,580 (GRCm39)	Y93F	probably benign	Het
Ankrd33b	T	C	15: 31,325,170 (GRCm39)	*129W	probably null	Het
Atp5pf	T	C	16: 84,625,343 (GRCm39)	M87V	probably benign	Het
Atp8b3	A	G	10: 80,361,457 (GRCm39)	S822P	possibly damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bbs2	A	T	8: 94,807,507 (GRCm39)	V429E	probably damaging	Het
Bccip	C	T	7: 133,316,628 (GRCm39)	L83F	probably damaging	Het
Brd9	G	A	13: 74,088,895 (GRCm39)	V198I	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
Calhm1	A	G	19: 47,132,240 (GRCm39)	L125P	probably damaging	Het
Ccdc110	A	T	8: 46,395,705 (GRCm39)	Q532L	possibly damaging	Het
Cdh19	G	A	1: 110,852,907 (GRCm39)	L343F	probably benign	Het
Cep350	A	G	1: 155,778,344 (GRCm39)	S1653P	possibly damaging	Het
Cmtm4	A	G	8: 105,082,952 (GRCm39)	I135T	possibly damaging	Het
Cmya5	A	G	13: 93,230,336 (GRCm39)	L1584P	possibly damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Crp	A	G	1: 172,525,704 (GRCm39)	M1V	probably null	Het
Csmd1	G	A	8: 16,048,788 (GRCm39)	Q2305*	probably null	Het
Cyp2c38	T	A	19: 39,449,132 (GRCm39)	I74F	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcaf1	A	T	9: 106,742,876 (GRCm39)		probably benign	Het
Dhx16	C	G	17: 36,196,527 (GRCm39)	A565G	probably benign	Het
Dock7	C	A	4: 98,857,881 (GRCm39)	E1448*	probably null	Het
Dpf2	C	T	19: 5,957,109 (GRCm39)	R38H	probably damaging	Het
E030030I06Rik	T	A	10: 22,024,744 (GRCm39)	R56S	unknown	Het
Etnk1	A	G	6: 143,141,000 (GRCm39)	Y248C	probably damaging	Het
Ext1	A	G	15: 52,953,383 (GRCm39)	S494P	possibly damaging	Het
Gk2	T	C	5: 97,603,579 (GRCm39)	S420G	probably benign	Het
Gm26596	T	C	10: 112,765,064 (GRCm39)		probably benign	Het
Gm5414	G	T	15: 101,536,543 (GRCm39)	N27K	possibly damaging	Het
Gskip	A	G	12: 105,664,988 (GRCm39)	D9G	probably benign	Het
H2-K2	T	A	17: 34,194,989 (GRCm39)		noncoding transcript	Het
Hk1	T	G	10: 62,140,558 (GRCm39)	S105R	probably benign	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Idnk	A	G	13: 58,310,683 (GRCm39)	D67G	probably benign	Het
Igfbp5	G	T	1: 72,903,222 (GRCm39)	H118N	probably benign	Het
Irf4	A	T	13: 30,947,580 (GRCm39)	Y427F	probably benign	Het
Khdc3	A	G	9: 73,009,868 (GRCm39)	E26G	possibly damaging	Het
Kif7	T	C	7: 79,358,939 (GRCm39)	D512G	probably damaging	Het
Lamb3	T	A	1: 193,013,665 (GRCm39)	I513N	probably damaging	Het
Lipo3	A	G	19: 33,760,860 (GRCm39)	L174P	probably damaging	Het
Lnx1	C	T	5: 74,771,457 (GRCm39)	V350I	probably benign	Het
Map3k21	A	G	8: 126,668,850 (GRCm39)	D812G	probably benign	Het
Mast2	G	T	4: 116,172,036 (GRCm39)	Y637*	probably null	Het
Med18	A	T	4: 132,190,274 (GRCm39)	V37D	possibly damaging	Het
Mip	T	A	10: 128,062,922 (GRCm39)	H122Q	probably benign	Het
Mmp13	A	T	9: 7,274,233 (GRCm39)	D180V	probably damaging	Het
Mpg	C	A	11: 32,180,034 (GRCm39)	C187*	probably null	Het
Mtmr14	A	G	6: 113,237,567 (GRCm39)	E256G	probably benign	Het
Myo7b	C	T	18: 32,100,178 (GRCm39)		probably null	Het
Nhsl3	G	T	4: 129,115,733 (GRCm39)	T977K	probably benign	Het
Nmt1	T	A	11: 102,954,743 (GRCm39)	V425D	probably damaging	Het
Nynrin	T	A	14: 56,110,351 (GRCm39)	Y1819*	probably null	Het
Or10ak16	A	G	4: 118,751,147 (GRCm39)	N289S	possibly damaging	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Otof	T	C	5: 30,540,914 (GRCm39)	E875G	possibly damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Phc1	T	C	6: 122,298,872 (GRCm39)	I699V	possibly damaging	Het
Prkdc	T	G	16: 15,634,638 (GRCm39)	D3594E	probably benign	Het
Pstpip1	A	T	9: 56,032,502 (GRCm39)	D246V	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Ror2	A	T	13: 53,439,536 (GRCm39)	C9*	probably null	Het
Setd1b	C	T	5: 123,286,175 (GRCm39)	A407V	unknown	Het
Slc26a4	T	G	12: 31,590,525 (GRCm39)	D376A	possibly damaging	Het
Smarcad1	A	G	6: 65,044,073 (GRCm39)	E215G	probably benign	Het
Spag16	G	A	1: 69,866,194 (GRCm39)	R11Q	probably null	Het
Sult1d1	T	A	5: 87,713,954 (GRCm39)	Q30L	probably benign	Het
Tbc1d5	A	G	17: 51,043,251 (GRCm39)	C746R	probably benign	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trdn	G	T	10: 33,071,977 (GRCm39)	E215*	probably null	Het
Trem1	G	A	17: 48,551,590 (GRCm39)	V84I	probably benign	Het
Tspan5	T	C	3: 138,604,076 (GRCm39)	F154L	probably damaging	Het
Usp45	A	G	4: 21,825,044 (GRCm39)	R647G	probably benign	Het
Usp50	T	A	2: 126,619,953 (GRCm39)	I120F	probably damaging	Het
Vil1	T	C	1: 74,471,457 (GRCm39)	M746T	probably benign	Het
Washc4	T	A	10: 83,410,407 (GRCm39)	M665K	possibly damaging	Het
Zfp750	T	C	11: 121,402,706 (GRCm39)	T681A	probably benign	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
IGL02288:Matn2	APN	15	34,422,532 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AAACCCGGCTCTCTAAGTTC -3'
(R):5'- CTCAAACATGTGTTTCAGGGCC -3'

Sequencing Primer
(F):5'- ATGCCTCCTGCTGAAGTATG -3'
(R):5'- CAGCCCAGTCATAGAGCCTTTG -3'

Posted On

2015-10-08