Mutagenetix > Incidental Mutation

Incidental Mutation 'R1865:Ecm2'

208656

Institutional Source

Beutler Lab

Gene Symbol

Ecm2

Ensembl Gene

ENSMUSG00000043631

Gene Name

extracellular matrix protein 2, female organ and adipocyte specific

Synonyms

tenonectin, 9030618O22Rik

MMRRC Submission

039888-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R1865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49658286-49686265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49683621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 533 (V533A)

Ref Sequence

ENSEMBL: ENSMUSP00000060402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000051504]

AlphaFold

Q5FW85

Predicted Effect

probably benign
Transcript: ENSMUST00000021818

SMART Domains

Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391

Domain	Start	End	E-Value	Type
coiled coil region	1	34	N/A	INTRINSIC
Pfam:CENP-P	102	278	3.9e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000051504
AA Change: V533A

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: V533A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	21	36	N/A	INTRINSIC
VWC	98	152	1.37e-11	SMART
coiled coil region	235	269	N/A	INTRINSIC
low complexity region	278	289	N/A	INTRINSIC
LRR	314	336	1.41e2	SMART
LRR	337	362	1.76e-1	SMART
LRR	363	386	5.41e0	SMART
LRR	408	433	1.91e1	SMART
LRR	434	457	4.98e-1	SMART
LRR	459	478	8.03e1	SMART
LRR	506	528	2.76e1	SMART
LRR	529	549	1.19e2	SMART
LRR	578	600	1.81e1	SMART
LRR	601	624	9.48e0	SMART
LRR	631	655	6.06e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222592

Meta Mutation Damage Score

0.1621

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (99/101)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	A	G	1: 158,797,094 (GRCm39)		noncoding transcript	Het
Aatk	G	A	11: 119,901,048 (GRCm39)	T1059M	probably benign	Het
Adgrg2	G	A	X: 159,265,347 (GRCm39)	M532I	probably benign	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Ahcyl2	G	A	6: 29,908,354 (GRCm39)	V575M	probably damaging	Het
Apobr	A	G	7: 126,185,140 (GRCm39)	D217G	probably benign	Het
Aqp9	A	C	9: 71,019,658 (GRCm39)	N267K	probably benign	Het
Arap2	A	G	5: 62,855,606 (GRCm39)	V610A	probably damaging	Het
Arhgap21	T	C	2: 20,866,015 (GRCm39)	E893G	probably damaging	Het
Atn1	T	C	6: 124,722,259 (GRCm39)		probably benign	Het
Bcl7a	A	T	5: 123,494,032 (GRCm39)	D68V	probably damaging	Het
Cbl	A	C	9: 44,075,462 (GRCm39)	C394W	probably damaging	Het
Ccdc18	T	A	5: 108,341,668 (GRCm39)	D854E	probably benign	Het
Ccdc93	A	T	1: 121,426,956 (GRCm39)	E580V	probably damaging	Het
Cd180	T	A	13: 102,842,517 (GRCm39)	M521K	probably benign	Het
Cd300ld2	T	G	11: 114,903,444 (GRCm39)		probably benign	Het
Cdh10	T	C	15: 18,899,690 (GRCm39)	F6L	probably benign	Het
Cep78	A	G	19: 15,933,368 (GRCm39)	S737P	probably damaging	Het
Ces1f	G	T	8: 94,000,893 (GRCm39)		probably benign	Het
Clcn1	T	A	6: 42,282,475 (GRCm39)	D442E	probably damaging	Het
Col20a1	T	C	2: 180,657,606 (GRCm39)	L1250P	possibly damaging	Het
Crispld2	G	A	8: 120,737,306 (GRCm39)	G19E	probably benign	Het
Ctbp2	C	T	7: 132,592,283 (GRCm39)	A849T	probably benign	Het
Cts6	A	G	13: 61,349,393 (GRCm39)	I105T	probably benign	Het
Cul4a	A	G	8: 13,192,589 (GRCm39)	T617A	possibly damaging	Het
Cyp2c68	G	T	19: 39,722,733 (GRCm39)	R272S	probably benign	Het
Cystm1	A	G	18: 36,499,729 (GRCm39)	Y48C	unknown	Het
Dach1	T	A	14: 98,077,645 (GRCm39)	R579S	possibly damaging	Het
Ddrgk1	A	T	2: 130,496,215 (GRCm39)	I270N	probably damaging	Het
Dhx32	A	T	7: 133,339,025 (GRCm39)	C197S	probably benign	Het
Dnah10	A	C	5: 124,909,590 (GRCm39)		probably null	Het
Eif4g1	A	G	16: 20,497,398 (GRCm39)	T202A	probably damaging	Het
Ephb4	A	T	5: 137,361,572 (GRCm39)	Q525L	possibly damaging	Het
F2	T	C	2: 91,465,539 (GRCm39)	D82G	probably benign	Het
Fam184b	G	T	5: 45,689,231 (GRCm39)	N868K	possibly damaging	Het
Fbxo25	A	G	8: 13,985,248 (GRCm39)	T314A	probably damaging	Het
Folh1	A	G	7: 86,375,114 (GRCm39)	M624T	possibly damaging	Het
Gabra5	G	A	7: 57,138,940 (GRCm39)	R71*	probably null	Het
Gmpr	G	T	13: 45,696,101 (GRCm39)	V278F	probably damaging	Het
Hmcn1	A	T	1: 150,479,563 (GRCm39)	C4634S	probably damaging	Het
Hspa5	T	C	2: 34,664,553 (GRCm39)	F336L	probably damaging	Het
Igfbp4	G	A	11: 98,932,512 (GRCm39)	G64R	probably damaging	Het
Itch	G	A	2: 155,010,666 (GRCm39)	V45I	probably damaging	Het
Itgb1	T	A	8: 129,446,938 (GRCm39)	F484L	probably benign	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Kcnj8	T	A	6: 142,515,966 (GRCm39)	H47L	probably damaging	Het
Lcn2	T	C	2: 32,275,434 (GRCm39)	T194A	possibly damaging	Het
Mast4	A	T	13: 102,930,625 (GRCm39)	V209D	probably damaging	Het
Matn3	T	A	12: 9,002,041 (GRCm39)	D84E	probably damaging	Het
Mcm7	T	A	5: 138,168,637 (GRCm39)	Q18L	possibly damaging	Het
Mctp1	G	A	13: 76,533,267 (GRCm39)	C205Y	possibly damaging	Het
Megf11	A	G	9: 64,587,581 (GRCm39)	T460A	probably benign	Het
Mlh1	A	T	9: 111,086,092 (GRCm39)		probably benign	Het
Mylk	T	A	16: 34,732,600 (GRCm39)	S627T	probably benign	Het
Nat2	A	G	8: 67,954,204 (GRCm39)	M105V	possibly damaging	Het
Nav2	A	G	7: 49,197,943 (GRCm39)	T2A	possibly damaging	Het
Ndst3	A	T	3: 123,465,120 (GRCm39)	I284N	probably damaging	Het
Nfix	A	G	8: 85,498,904 (GRCm39)	V23A	possibly damaging	Het
Nr2f1	T	C	13: 78,338,045 (GRCm39)	Y200C	probably damaging	Het
Or14a258	T	C	7: 86,035,769 (GRCm39)	Y33C	probably damaging	Het
Or2g25	T	C	17: 37,970,754 (GRCm39)	I157V	possibly damaging	Het
Or6b13	G	A	7: 139,782,285 (GRCm39)	R133C	probably damaging	Het
Or8d1b	T	C	9: 38,887,200 (GRCm39)	V76A	probably benign	Het
Or8u8	T	G	2: 86,011,882 (GRCm39)	D191A	probably damaging	Het
Pcdhb21	T	C	18: 37,647,648 (GRCm39)	V259A	possibly damaging	Het
Phip	A	T	9: 82,827,845 (GRCm39)	V127E	probably damaging	Het
Pik3r5	A	G	11: 68,383,318 (GRCm39)	D379G	probably damaging	Het
Pkdrej	A	T	15: 85,704,525 (GRCm39)	C470*	probably null	Het
Plxnd1	A	T	6: 115,946,402 (GRCm39)		probably null	Het
Polr1a	G	A	6: 71,943,508 (GRCm39)	V1248I	probably damaging	Het
Pou3f2	A	T	4: 22,486,917 (GRCm39)	C405*	probably null	Het
Ppp1r3a	A	T	6: 14,718,404 (GRCm39)	S837T	probably damaging	Het
Rest	T	A	5: 77,428,745 (GRCm39)	V388E	probably damaging	Het
Rnft2	A	T	5: 118,370,540 (GRCm39)	W220R	probably damaging	Het
Rnpc3	A	T	3: 113,415,559 (GRCm39)	Y107*	probably null	Het
Senp8	G	A	9: 59,644,835 (GRCm39)	S94F	probably damaging	Het
Ski	A	G	4: 155,306,698 (GRCm39)	S94P	possibly damaging	Het
Skint8	A	G	4: 111,794,192 (GRCm39)	D194G	probably damaging	Het
Slc35c2	C	A	2: 165,120,303 (GRCm39)	R232L	probably benign	Het
Slc43a3	T	A	2: 84,777,245 (GRCm39)	V198D	possibly damaging	Het
Slc8b1	A	T	5: 120,667,717 (GRCm39)	N467I	probably damaging	Het
Srbd1	A	G	17: 86,422,732 (GRCm39)		probably benign	Het
Sstr3	T	C	15: 78,424,168 (GRCm39)	H193R	probably damaging	Het
Sv2c	A	C	13: 96,113,283 (GRCm39)	S555R	probably benign	Het
Tagln3	A	G	16: 45,532,013 (GRCm39)	V173A	possibly damaging	Het
Tctn2	C	A	5: 124,757,143 (GRCm39)		noncoding transcript	Het
Tfap2a	G	T	13: 40,881,884 (GRCm39)	H167Q	probably damaging	Het
Tmem213	A	G	6: 38,086,487 (GRCm39)	T48A	possibly damaging	Het
Tmem30c	A	G	16: 57,090,352 (GRCm39)		probably benign	Het
Tmem37	A	G	1: 119,995,952 (GRCm39)	S42P	probably damaging	Het
Tnxb	C	T	17: 34,922,431 (GRCm39)	Q2415*	probably null	Het
Ttyh1	T	C	7: 4,122,730 (GRCm39)	L26P	probably damaging	Het
Ubn2	T	A	6: 38,417,425 (GRCm39)	D154E	possibly damaging	Het
Vdac3	A	T	8: 23,070,553 (GRCm39)	Y119*	probably null	Het
Vmn2r58	T	C	7: 41,486,682 (GRCm39)	I738V	possibly damaging	Het
Zfp704	A	G	3: 9,539,551 (GRCm39)		probably benign	Het
Znfx1	G	A	2: 166,880,729 (GRCm39)	R352W	probably damaging	Het

Other mutations in Ecm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00677:Ecm2	APN	13	49,684,794 (GRCm39)	missense	probably benign	0.14
IGL01685:Ecm2	APN	13	49,682,374 (GRCm39)	missense	probably damaging	1.00
IGL02070:Ecm2	APN	13	49,671,846 (GRCm39)	missense	probably damaging	1.00
IGL02108:Ecm2	APN	13	49,671,920 (GRCm39)	nonsense	probably null
IGL02138:Ecm2	APN	13	49,676,304 (GRCm39)	missense	probably damaging	1.00
IGL02937:Ecm2	APN	13	49,671,952 (GRCm39)	missense	probably damaging	0.99
IGL03350:Ecm2	APN	13	49,674,420 (GRCm39)	missense	probably benign
R0049:Ecm2	UTSW	13	49,677,922 (GRCm39)	nonsense	probably null
R0049:Ecm2	UTSW	13	49,677,922 (GRCm39)	nonsense	probably null
R0627:Ecm2	UTSW	13	49,674,559 (GRCm39)	splice site	probably benign
R1515:Ecm2	UTSW	13	49,671,808 (GRCm39)	missense	possibly damaging	0.87
R1864:Ecm2	UTSW	13	49,683,621 (GRCm39)	missense	probably benign	0.28
R1991:Ecm2	UTSW	13	49,683,732 (GRCm39)	missense	probably benign	0.28
R2103:Ecm2	UTSW	13	49,683,732 (GRCm39)	missense	probably benign	0.28
R2181:Ecm2	UTSW	13	49,683,765 (GRCm39)	missense	probably damaging	1.00
R2209:Ecm2	UTSW	13	49,683,632 (GRCm39)	missense	probably damaging	1.00
R2568:Ecm2	UTSW	13	49,683,605 (GRCm39)	missense	possibly damaging	0.81
R4856:Ecm2	UTSW	13	49,676,263 (GRCm39)	missense	possibly damaging	0.47
R4867:Ecm2	UTSW	13	49,684,821 (GRCm39)	missense	probably damaging	0.99
R4886:Ecm2	UTSW	13	49,676,263 (GRCm39)	missense	possibly damaging	0.47
R5368:Ecm2	UTSW	13	49,674,419 (GRCm39)	missense	probably benign
R5420:Ecm2	UTSW	13	49,681,210 (GRCm39)	missense	possibly damaging	0.65
R6084:Ecm2	UTSW	13	49,668,570 (GRCm39)	nonsense	probably null
R6244:Ecm2	UTSW	13	49,683,783 (GRCm39)	missense	probably damaging	1.00
R6881:Ecm2	UTSW	13	49,683,818 (GRCm39)	nonsense	probably null
R6931:Ecm2	UTSW	13	49,682,487 (GRCm39)	missense	probably benign	0.00
R7085:Ecm2	UTSW	13	49,674,378 (GRCm39)	missense	probably damaging	1.00
R7347:Ecm2	UTSW	13	49,668,554 (GRCm39)	missense	probably damaging	0.99
R7490:Ecm2	UTSW	13	49,683,818 (GRCm39)	nonsense	probably null
R8039:Ecm2	UTSW	13	49,668,326 (GRCm39)	missense	probably benign
R8131:Ecm2	UTSW	13	49,671,940 (GRCm39)	missense	probably benign	0.33
R8333:Ecm2	UTSW	13	49,671,859 (GRCm39)	missense	probably damaging	1.00
R8345:Ecm2	UTSW	13	49,674,276 (GRCm39)	missense	probably benign	0.00
R9042:Ecm2	UTSW	13	49,682,439 (GRCm39)	nonsense	probably null
R9286:Ecm2	UTSW	13	49,683,696 (GRCm39)	missense
R9334:Ecm2	UTSW	13	49,677,815 (GRCm39)	missense	probably benign	0.00
R9390:Ecm2	UTSW	13	49,683,792 (GRCm39)	missense	probably benign	0.00
R9610:Ecm2	UTSW	13	49,681,216 (GRCm39)	missense	probably damaging	1.00
R9610:Ecm2	UTSW	13	49,668,518 (GRCm39)	missense	probably benign	0.39
R9611:Ecm2	UTSW	13	49,681,216 (GRCm39)	missense	probably damaging	1.00
R9611:Ecm2	UTSW	13	49,668,518 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- CTGGCTAGAACCTAGGTCTGTTC -3'
(R):5'- CAGCCTCAGAAAATGCAGTG -3'

Sequencing Primer
(F):5'- CTGTTCAGGATCATTAGGACGACC -3'
(R):5'- GCCTCAGAAAATGCAGTGCTTTC -3'

Posted On

2014-06-30