Mutagenetix > Incidental Mutation

Incidental Mutation 'R4817:Matn2'

369945

Institutional Source

Beutler Lab

Gene Symbol

Matn2

Ensembl Gene

ENSMUSG00000022324

Gene Name

matrilin 2

Synonyms

Crtm2

MMRRC Submission

042435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4817 (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 34423945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 601 (D601G)

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: D601G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022947
Gene: ENSMUSG00000022324
AA Change: D601G

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: D601G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128202
Gene: ENSMUSG00000022324
AA Change: D601G

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: D601G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228570
AA Change: D601G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.2845

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (108/112)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	T	A	2: 91,033,963 (GRCm39)	D44E	probably damaging	Het
Acp5	T	C	9: 22,038,379 (GRCm39)	I307M	probably benign	Het
Ahsa1	A	G	12: 87,319,940 (GRCm39)	D245G	possibly damaging	Het
Ankrd40	A	G	11: 94,230,459 (GRCm39)	K316E	probably benign	Het
Apol9b	G	A	15: 77,620,088 (GRCm39)	E295K	possibly damaging	Het
Aqp4	C	A	18: 15,532,815 (GRCm39)	G93C	probably damaging	Het
Arhgap21	A	G	2: 20,854,967 (GRCm39)	V1465A	probably benign	Het
Arhgap5	C	T	12: 52,565,992 (GRCm39)	P988S	possibly damaging	Het
Asxl3	A	C	18: 22,658,511 (GRCm39)	K2174Q	probably damaging	Het
Brf1	A	T	12: 112,935,921 (GRCm39)	I250N	probably damaging	Het
Calm1	A	G	12: 100,169,832 (GRCm39)		probably null	Het
Ccdc33	C	T	9: 57,974,818 (GRCm39)	V352M	probably damaging	Het
Ccdc88a	G	T	11: 29,410,907 (GRCm39)	K464N	probably benign	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdc25b	T	A	2: 131,035,223 (GRCm39)	I327N	probably damaging	Het
Cenpf	G	A	1: 189,414,566 (GRCm39)	H184Y	possibly damaging	Het
Cimap1d	G	A	10: 79,475,851 (GRCm39)	P238S	probably damaging	Het
Col6a5	G	A	9: 105,811,497 (GRCm39)	T674I	unknown	Het
Creg2	A	T	1: 39,662,358 (GRCm39)	M258K	probably damaging	Het
Csf3r	T	A	4: 125,931,449 (GRCm39)	Y477*	probably null	Het
Cyp3a44	T	A	5: 145,740,565 (GRCm39)	Y25F	possibly damaging	Het
Degs2	T	A	12: 108,655,325 (GRCm39)	R283*	probably null	Het
Dido1	T	C	2: 180,303,209 (GRCm39)	N1565S	probably benign	Het
Dnah6	A	T	6: 72,999,407 (GRCm39)	M4008K	probably benign	Het
Dnmbp	C	A	19: 43,838,411 (GRCm39)	G1138V	probably benign	Het
Drosha	A	C	15: 12,914,133 (GRCm39)	H1136P	probably damaging	Het
Duox2	T	G	2: 122,126,996 (GRCm39)	N173T	probably damaging	Het
Dync1li1	T	G	9: 114,534,162 (GRCm39)	I87M	probably benign	Het
E2f8	A	C	7: 48,517,494 (GRCm39)	S770A	probably benign	Het
Efemp1	A	G	11: 28,876,241 (GRCm39)	T469A	probably damaging	Het
Eif3f	A	T	7: 108,536,982 (GRCm39)	T136S	probably damaging	Het
Enpp5	T	C	17: 44,391,871 (GRCm39)	*46R	probably null	Het
Epb41l4b	A	G	4: 57,103,428 (GRCm39)	V136A	probably damaging	Het
Fam186a	A	C	15: 99,831,419 (GRCm39)		probably benign	Het
Flt4	A	G	11: 49,516,242 (GRCm39)	Y115C	probably damaging	Het
Gal	T	A	19: 3,461,126 (GRCm39)		probably null	Het
Galnt3	C	T	2: 65,923,883 (GRCm39)	V462I	possibly damaging	Het
Gas2l1	A	G	11: 5,011,429 (GRCm39)	S467P	possibly damaging	Het
Gbx1	A	G	5: 24,731,204 (GRCm39)	L204P	probably damaging	Het
Gle1	T	A	2: 29,826,223 (GRCm39)	S101T	probably benign	Het
Gltpd2	A	C	11: 70,410,303 (GRCm39)	Q87P	probably damaging	Het
Gm12789	T	A	4: 101,846,079 (GRCm39)	D113E	probably damaging	Het
Grin3b	G	A	10: 79,812,732 (GRCm39)	G936R	probably benign	Het
Gtf3c2	C	T	5: 31,331,434 (GRCm39)		probably null	Het
Gvin3	T	A	7: 106,200,437 (GRCm39)		noncoding transcript	Het
Klhl28	T	C	12: 65,004,043 (GRCm39)	T157A	probably benign	Het
Kmt2a	A	G	9: 44,732,763 (GRCm39)		probably benign	Het
Lamp1	A	G	8: 13,222,541 (GRCm39)	T242A	probably benign	Het
Lhfpl5	T	G	17: 28,795,300 (GRCm39)	I109S	possibly damaging	Het
Lhfpl5	T	A	17: 28,801,962 (GRCm39)	*220R	probably null	Het
Map4k2	C	T	19: 6,394,459 (GRCm39)	T313I	probably damaging	Het
Mcur1	C	T	13: 43,705,147 (GRCm39)	V170M	possibly damaging	Het
Mphosph10	T	C	7: 64,041,969 (GRCm39)		probably benign	Het
Nat8l	G	A	5: 34,158,387 (GRCm39)	A266T	probably benign	Het
Nckap5	G	T	1: 125,954,952 (GRCm39)	D469E	possibly damaging	Het
Nckap5l	G	T	15: 99,321,067 (GRCm39)	P1238T	probably damaging	Het
Ngf	A	G	3: 102,417,156 (GRCm39)		probably benign	Het
Ntng1	T	A	3: 109,842,184 (GRCm39)	L196F	probably damaging	Het
Or2q1	A	G	6: 42,794,896 (GRCm39)	I164V	possibly damaging	Het
Or2v2	A	T	11: 49,004,448 (GRCm39)	V35D	probably damaging	Het
Pclo	A	T	5: 14,725,045 (GRCm39)	Y1301F	unknown	Het
Pclo	A	G	5: 14,763,139 (GRCm39)	T3871A	unknown	Het
Peli3	T	C	19: 4,982,594 (GRCm39)	E357G	probably damaging	Het
Pkd1	T	A	17: 24,784,348 (GRCm39)		probably null	Het
Pla2g2c	T	G	4: 138,461,645 (GRCm39)	F38C	probably damaging	Het
Plekha2	T	A	8: 25,549,960 (GRCm39)	T126S	possibly damaging	Het
Polr3f	T	A	2: 144,376,001 (GRCm39)	*142K	probably null	Het
Ppcs	C	T	4: 119,276,343 (GRCm39)	V81M	probably benign	Het
Prl7a1	A	G	13: 27,819,747 (GRCm39)	I169T	probably damaging	Het
Rbm19	C	A	5: 120,271,799 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,721,631 (GRCm39)	Y215F	probably benign	Het
Rragd	T	G	4: 32,995,072 (GRCm39)	S62R	probably benign	Het
Rtel1	T	C	2: 180,997,728 (GRCm39)	S1114P	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setbp1	A	G	18: 78,902,015 (GRCm39)	S551P	probably damaging	Het
Setd6	T	C	8: 96,443,683 (GRCm39)		probably benign	Het
Slmap	A	C	14: 26,183,507 (GRCm39)	M292R	probably damaging	Het
Srrm4	T	C	5: 116,615,193 (GRCm39)	D97G	unknown	Het
Stk-ps2	G	A	1: 46,068,125 (GRCm39)		noncoding transcript	Het
Syce1	A	T	7: 140,358,336 (GRCm39)	M204K	probably benign	Het
Syk	A	G	13: 52,765,242 (GRCm39)	K123R	probably benign	Het
Tbc1d14	A	T	5: 36,729,175 (GRCm39)	S64T	probably damaging	Het
Tmt1a3	A	T	15: 100,233,214 (GRCm39)	D135V	probably damaging	Het
Traf3ip3	T	C	1: 192,867,137 (GRCm39)	K295E	probably damaging	Het
Trp53bp2	T	C	1: 182,269,370 (GRCm39)		probably null	Het
Tsc2	T	A	17: 24,815,716 (GRCm39)		probably null	Het
Tspyl4	T	A	10: 34,173,734 (GRCm39)	C75*	probably null	Het
Uqcc2	T	C	17: 27,344,133 (GRCm39)	I52V	probably benign	Het
Vcp	T	A	4: 42,983,486 (GRCm39)	T525S	probably damaging	Het
Vmn2r18	A	T	5: 151,508,897 (GRCm39)		probably null	Het
Vmp1	A	G	11: 86,492,879 (GRCm39)	V310A	probably benign	Het
Vps13d	T	A	4: 144,795,735 (GRCm39)	R3671S	probably damaging	Het
Wdr3	T	C	3: 100,053,861 (GRCm39)	T544A	possibly damaging	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zfp541	T	A	7: 15,824,307 (GRCm39)	F1010I	probably damaging	Het
Zfp64	T	C	2: 168,768,032 (GRCm39)	T527A	probably benign	Het
Zyx	G	T	6: 42,333,421 (GRCm39)	R449M	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
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
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
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'- CCAGAGCCCAAGATGAATGG -3'
(R):5'- CAACTTAGGACTGCCACTGAG -3'

Sequencing Primer
(F):5'- GAGCCCAAGATGAATGGATCTTCC -3'
(R):5'- TAGGACTGCCACTGAGAAATTCCTG -3'

Posted On

2016-02-04