Mutagenetix > Incidental Mutation

Incidental Mutation 'R0049:Ecm2'

15904

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

038343-MU

Accession Numbers

Essential gene?

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

Stock #

R0049 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

49658286-49686265 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 49677922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 403 (K403*)

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 null
Transcript: ENSMUST00000051504
AA Change: K403*

SMART Domains

Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: K403*

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

0.9755

Coding Region Coverage

1x: 90.0%
3x: 87.7%
10x: 82.4%
20x: 74.6%

Validation Efficiency

89% (108/122)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,615,267 (GRCm39)	H9L	possibly damaging	Het
Aars1	T	A	8: 111,779,083 (GRCm39)	I739K	possibly damaging	Het
Acod1	T	A	14: 103,292,643 (GRCm39)	I389K	possibly damaging	Het
Akap1	C	A	11: 88,730,450 (GRCm39)		probably null	Het
Anxa7	T	C	14: 20,512,678 (GRCm39)	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,500,514 (GRCm39)	Y308H	probably damaging	Het
Arhgef11	T	A	3: 87,636,500 (GRCm39)		probably null	Het
Atosb	A	T	4: 43,036,441 (GRCm39)	S97T	probably benign	Het
Atp6v0a4	G	A	6: 38,059,016 (GRCm39)	R256C	probably damaging	Het
Camsap3	C	A	8: 3,648,772 (GRCm39)	S163R	probably benign	Het
Ccdc110	A	T	8: 46,395,663 (GRCm39)	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119 (GRCm39)		probably null	Het
Ccnt1	T	C	15: 98,462,960 (GRCm39)	M71V	probably benign	Het
Celsr2	T	A	3: 108,304,570 (GRCm39)	Y2263F	probably benign	Het
Cfap69	T	C	5: 5,663,734 (GRCm39)	T498A	probably benign	Het
Clstn3	T	A	6: 124,436,812 (GRCm39)	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,028,212 (GRCm39)	V468A	probably benign	Het
Crmp1	T	G	5: 37,422,617 (GRCm39)	D141E	possibly damaging	Het
Cryz	C	A	3: 154,317,189 (GRCm39)	A136D	probably damaging	Het
Dcst2	T	C	3: 89,278,913 (GRCm39)	V550A	probably benign	Het
Dph6	A	G	2: 114,353,525 (GRCm39)	V221A	probably benign	Het
Eif3d	T	C	15: 77,843,924 (GRCm39)	N474S	probably benign	Het
F12	T	C	13: 55,574,130 (GRCm39)	D34G	probably benign	Het
Fam228b	A	T	12: 4,798,117 (GRCm39)	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,580,661 (GRCm39)	D334E	possibly damaging	Het
Fras1	T	A	5: 96,924,481 (GRCm39)	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,484,674 (GRCm39)	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,268 (GRCm39)	D16E	probably benign	Het
Gm10648	T	C	7: 28,561,202 (GRCm39)		probably benign	Het
Gorasp2	T	C	2: 70,521,067 (GRCm39)	S346P	possibly damaging	Het
Htt	A	C	5: 35,066,006 (GRCm39)	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,450,024 (GRCm39)	L8F	probably damaging	Het
Kif27	A	T	13: 58,451,378 (GRCm39)	D983E	probably damaging	Het
Kif3a	T	A	11: 53,481,560 (GRCm39)		probably benign	Het
Kif3c	A	C	12: 3,417,090 (GRCm39)	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,468,256 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,623,758 (GRCm39)	D74E	probably damaging	Het
Med21	T	C	6: 146,551,732 (GRCm39)	S128P	probably damaging	Het
Mms19	A	C	19: 41,943,607 (GRCm39)	M374R	probably damaging	Het
Mrpl3	T	C	9: 104,932,872 (GRCm39)	V111A	probably benign	Het
Mtfr2	T	A	10: 20,224,158 (GRCm39)	Y31N	probably damaging	Het
Neb	A	C	2: 52,060,479 (GRCm39)	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,427,661 (GRCm39)	R137*	probably null	Het
Nr1i3	T	A	1: 171,041,982 (GRCm39)	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,249,566 (GRCm39)	V452A	probably damaging	Het
Or11g27	A	T	14: 50,771,151 (GRCm39)	K94M	probably damaging	Het
Pax3	A	G	1: 78,080,141 (GRCm39)	L415P	probably damaging	Het
Pcnt	G	T	10: 76,205,655 (GRCm39)		probably benign	Het
Peg3	G	T	7: 6,714,672 (GRCm39)	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,623,313 (GRCm39)	G120V	probably damaging	Het
Pomt1	T	A	2: 32,142,023 (GRCm39)	H584Q	possibly damaging	Het
Prkcq	G	A	2: 11,288,643 (GRCm39)	G532E	probably benign	Het
Pwp1	A	G	10: 85,721,480 (GRCm39)	T361A	possibly damaging	Het
Rab4a	A	T	8: 124,554,081 (GRCm39)	H5L	probably damaging	Het
Ramp1	T	C	1: 91,124,592 (GRCm39)	I51T	possibly damaging	Het
Raph1	G	T	1: 60,565,058 (GRCm39)	T143K	probably benign	Het
Rhpn1	A	G	15: 75,581,088 (GRCm39)	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,117,287 (GRCm39)	T283S	possibly damaging	Het
Ros1	T	A	10: 51,977,857 (GRCm39)	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,797,430 (GRCm39)	Q223R	probably null	Het
Rtp4	G	T	16: 23,431,679 (GRCm39)	M70I	probably benign	Het
Sag	C	A	1: 87,762,340 (GRCm39)	T335K	probably damaging	Het
Sgo1	C	T	17: 53,986,691 (GRCm39)	D167N	probably damaging	Het
Slco1a8	T	C	6: 141,936,147 (GRCm39)	T313A	probably benign	Het
St6gal1	G	T	16: 23,139,891 (GRCm39)	A21S	probably damaging	Het
Stard9	C	A	2: 120,530,300 (GRCm39)	L2186I	probably damaging	Het
Sun2	T	A	15: 79,611,810 (GRCm39)		probably benign	Het
Taf4	G	A	2: 179,565,884 (GRCm39)	T849M	probably damaging	Het
Taok2	G	A	7: 126,465,583 (GRCm39)	H404Y	possibly damaging	Het
Tdrd7	A	G	4: 45,987,582 (GRCm39)	I72V	probably damaging	Het
Trav1	T	A	14: 52,666,155 (GRCm39)	S52T	probably damaging	Het
Trim30a	C	T	7: 104,078,559 (GRCm39)		probably null	Het
Tro	T	C	X: 149,437,565 (GRCm39)	N364S	possibly damaging	Het
Tshz3	A	G	7: 36,469,534 (GRCm39)	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,053,908 (GRCm39)	L757P	probably damaging	Het
Vmn1r218	C	T	13: 23,321,225 (GRCm39)	Q111*	probably null	Het
Vmn2r75	G	A	7: 85,797,309 (GRCm39)	Q835*	probably null	Het
Xcr1	T	A	9: 123,684,940 (GRCm39)	D274V	possibly damaging	Het
Ypel5	C	T	17: 73,153,332 (GRCm39)	T12I	probably benign	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
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
R1865: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

Protein Function and Prediction

The ECM2 protein is a novel protein with an RGD sequence, a von Willebrand factor type C domain, and a leucine-rich repeat.

Expression/Localization

ECM2 has been detected in adipose tissue and mammary gland. Northern blot analysis also detected the ECM2 transcript in uterus and ovary (1).

References

1. Nishiu, J., Tanaka, T., and Nakamura, Y. (1998) Identification of a Novel Gene (ECM2) Encoding a Putative Extracellular Matrix Protein Expressed Predominantly in Adipose and Female-Specific Tissues and its Chromosomal Localization to 9q22.3. Genomics. 52, 378-381.

Posted On

2013-01-08

Science Writer

Anne Murray