Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Matn2'

54179

Institutional Source

Beutler Lab

Gene Symbol

Matn2

Ensembl Gene

ENSMUSG00000022324

Gene Name

matrilin 2

Synonyms

Crtm2

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0606 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34306827-34436388 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34345296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 101 (Y101C)

Ref Sequence

ENSEMBL: ENSMUSP00000154572 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022947] [ENSMUST00000163455] [ENSMUST00000179647] [ENSMUST00000226766] [ENSMUST00000227759] [ENSMUST00000227772] [ENSMUST00000228570]

AlphaFold

O08746

Predicted Effect

probably damaging
Transcript: ENSMUST00000022947
AA Change: Y101C

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

SMART Domains

Protein: ENSMUSP00000022947
Gene: ENSMUSG00000022324
AA Change: Y101C

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: Y101C

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

SMART Domains

Protein: ENSMUSP00000128202
Gene: ENSMUSG00000022324
AA Change: Y101C

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 benign
Transcript: ENSMUST00000179647

Predicted Effect

probably damaging
Transcript: ENSMUST00000226766
AA Change: Y101C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000227759
AA Change: Y101C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227772

Predicted Effect

probably damaging
Transcript: ENSMUST00000228570
AA Change: Y101C

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

Meta Mutation Damage Score

0.9580

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,572 (GRCm39)	Y211H	probably damaging	Het
Actn1	A	T	12: 80,221,421 (GRCm39)		probably benign	Het
Adtrp	A	G	13: 41,920,881 (GRCm39)	F197L	probably damaging	Het
Ankrd11	G	A	8: 123,619,571 (GRCm39)	T1406I	probably benign	Het
Arhgap24	A	T	5: 103,045,086 (GRCm39)	R620W	probably damaging	Het
Atg13	A	G	2: 91,512,418 (GRCm39)	Y284H	probably benign	Het
Atrn	A	G	2: 130,748,776 (GRCm39)	E99G	possibly damaging	Het
Cage1	A	T	13: 38,200,470 (GRCm39)		probably benign	Het
Cblif	A	T	19: 11,729,658 (GRCm39)	I206F	possibly damaging	Het
Ccr3	T	A	9: 123,828,839 (GRCm39)	M58K	probably benign	Het
Cdk18	G	T	1: 132,045,355 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,551 (GRCm39)	V23A	probably benign	Het
Col4a3	T	C	1: 82,650,307 (GRCm39)		probably benign	Het
Col4a6	A	G	X: 139,975,219 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,321,058 (GRCm39)	I251V	probably benign	Het
Csnk1g3	G	A	18: 54,050,100 (GRCm39)	V115M	probably damaging	Het
Cst7	A	T	2: 150,412,439 (GRCm39)	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,746,817 (GRCm39)	D373V	probably damaging	Het
Dclk2	G	A	3: 86,813,311 (GRCm39)	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,721,572 (GRCm39)		probably benign	Het
Dhx58	T	A	11: 100,593,077 (GRCm39)	H210L	probably benign	Het
Dnah9	T	C	11: 65,732,159 (GRCm39)	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,087,974 (GRCm39)	L990H	probably damaging	Het
Faap24	T	C	7: 35,094,388 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,282,077 (GRCm39)	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696 (GRCm39)	W15R	probably benign	Het
Gm15446	T	C	5: 110,091,347 (GRCm39)	V533A	probably benign	Het
Gm6760	T	A	X: 63,195,259 (GRCm39)	K63*	probably null	Het
Gne	C	T	4: 44,042,244 (GRCm39)	E444K	possibly damaging	Het
Gpr173	T	A	X: 151,130,036 (GRCm39)	M146L	possibly damaging	Het
Hira	C	T	16: 18,753,797 (GRCm39)	S547L	probably benign	Het
Hnf1b	A	G	11: 83,754,810 (GRCm39)	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,877,364 (GRCm39)	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,708,584 (GRCm39)	I40F	probably benign	Het
Hydin	C	T	8: 111,276,430 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,411,657 (GRCm39)	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,887,639 (GRCm39)	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,640,806 (GRCm39)	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,260 (GRCm39)		probably benign	Het
Itgb1	A	T	8: 129,448,853 (GRCm39)		probably benign	Het
Kctd21	G	A	7: 96,996,808 (GRCm39)	E94K	probably benign	Het
Kir3dl2	A	G	X: 135,354,260 (GRCm39)	V233A	possibly damaging	Het
Klra2	A	T	6: 131,197,187 (GRCm39)	C271S	probably damaging	Het
Lacc1	A	T	14: 77,267,061 (GRCm39)	C401S	probably damaging	Het
Lmna	T	C	3: 88,389,885 (GRCm39)	E580G	probably damaging	Het
Mrps16	G	A	14: 20,441,457 (GRCm39)	R116*	probably null	Het
Ndrg2	G	T	14: 52,143,674 (GRCm39)	R333S	probably damaging	Het
Nf2	A	G	11: 4,732,194 (GRCm39)	I507T	possibly damaging	Het
Nktr	A	G	9: 121,578,356 (GRCm39)		probably benign	Het
Nkx3-1	G	A	14: 69,428,455 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,467,781 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,872,801 (GRCm39)	N1047S	probably damaging	Het
Nup210	A	T	6: 91,003,911 (GRCm39)	I1402N	possibly damaging	Het
Or5d40	G	T	2: 88,015,624 (GRCm39)	M134I	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdcl2	C	T	5: 76,460,328 (GRCm39)	S182N	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,716,455 (GRCm39)	F669L	probably benign	Het
Plekha8	A	G	6: 54,606,805 (GRCm39)	K367E	probably damaging	Het
Pola1	A	G	X: 92,531,693 (GRCm39)		probably benign	Het
Ppm1d	C	T	11: 85,236,703 (GRCm39)	T494I	probably benign	Het
Pramel16	T	A	4: 143,676,453 (GRCm39)	Y217F	probably benign	Het
Prl6a1	A	T	13: 27,498,177 (GRCm39)		probably benign	Het
Ptprg	T	A	14: 12,154,131 (GRCm38)	S617R	probably benign	Het
R3hdm2	G	A	10: 127,280,313 (GRCm39)	G45D	probably damaging	Het
Rev1	T	A	1: 38,098,204 (GRCm39)	R780W	probably null	Het
Rnf139	T	A	15: 58,771,676 (GRCm39)	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,405,174 (GRCm39)	V71A	probably damaging	Het
Shtn1	A	G	19: 58,988,372 (GRCm39)	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,246,067 (GRCm39)	H221L	probably benign	Het
Smo	A	C	6: 29,753,603 (GRCm39)	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,086,582 (GRCm39)		probably benign	Het
Snf8	G	T	11: 95,925,799 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,850,245 (GRCm39)	S628G	probably benign	Het
Sphkap	A	T	1: 83,258,145 (GRCm39)	D199E	probably damaging	Het
Spring1	T	C	5: 118,397,154 (GRCm39)	Y128H	probably damaging	Het
Stxbp5l	T	C	16: 37,024,883 (GRCm39)	T572A	possibly damaging	Het
Thada	C	A	17: 84,723,731 (GRCm39)	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756 (GRCm39)	Q735R	probably benign	Het
Trim24	G	A	6: 37,848,169 (GRCm39)	E42K	probably benign	Het
Trnt1	T	A	6: 106,754,869 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,604,353 (GRCm39)	M215K	probably damaging	Het
Ttc8	C	T	12: 98,909,718 (GRCm39)		probably benign	Het
Ube3c	A	G	5: 29,795,926 (GRCm39)	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,438,265 (GRCm39)		probably benign	Het
Usp36	A	G	11: 118,153,854 (GRCm39)		probably benign	Het
Vcf2	C	T	X: 149,181,360 (GRCm39)	A144T	probably benign	Het
Vmn2r102	T	C	17: 19,899,106 (GRCm39)	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,511,595 (GRCm39)	T432A	probably damaging	Het
Wnk1	G	T	6: 119,903,644 (GRCm39)	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,875,665 (GRCm39)		probably benign	Het
Zar1	G	T	5: 72,737,886 (GRCm39)	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,351,348 (GRCm39)	Y154H	probably benign	Het
Zer1	G	T	2: 29,994,809 (GRCm39)		probably benign	Het
Zfp454	A	G	11: 50,765,012 (GRCm39)	F140S	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
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

Predicted Primers

PCR Primer
(F):5'- GCAAATCTGAACACGCCTTCCTCTG -3'
(R):5'- TGATGCGTGGCACATTTTCCCG -3'

Sequencing Primer
(F):5'- GATCCTTGTGACCTCTGCTC -3'
(R):5'- GCACATTTTCCCGCAAGG -3'

Posted On

2013-07-11