Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Ecm2'

505478

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

044435-MU

Accession Numbers

Essential gene?

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

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49658286-49686265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49683783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 587 (D587V)

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 damaging
Transcript: ENSMUST00000051504
AA Change: D587V

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

SMART Domains

Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: D587V

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

0.5886

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,150 (GRCm39)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,402,531 (GRCm39)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,255,050 (GRCm39)	T211I	probably damaging	Het
Adss2	C	T	1: 177,604,395 (GRCm39)	E153K	probably benign	Het
Ago4	C	A	4: 126,405,280 (GRCm39)	G431V	possibly damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,654,299 (GRCm39)	I769F	probably damaging	Het
Atp9a	T	C	2: 168,531,272 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,011,148 (GRCm39)	V1782A	probably benign	Het
Brap	C	A	5: 121,803,372 (GRCm39)	D173E	probably benign	Het
Brca2	G	T	5: 150,490,443 (GRCm39)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,730,176 (GRCm39)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,662,675 (GRCm39)	S170P	probably benign	Het
Celsr2	T	C	3: 108,300,444 (GRCm39)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,194,244 (GRCm39)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,436,607 (GRCm39)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 119,880,760 (GRCm39)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 33,125,291 (GRCm39)	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,772,620 (GRCm39)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,603,287 (GRCm39)	E865G	probably damaging	Het
Ddx50	A	T	10: 62,457,345 (GRCm39)		probably null	Het
Dpp6	A	G	5: 27,254,626 (GRCm39)	T14A	probably damaging	Het
Echs1	C	A	7: 139,692,982 (GRCm39)	Q51H	possibly damaging	Het
Ect2l	A	T	10: 18,016,145 (GRCm39)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,044,223 (GRCm39)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,252,865 (GRCm39)	K211N	probably benign	Het
Fchsd2	A	G	7: 100,908,983 (GRCm39)		probably null	Het
Fen1	A	G	19: 10,178,051 (GRCm39)	V131A	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,545,477 (GRCm39)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,268,730 (GRCm39)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,823,560 (GRCm39)	F379L	probably damaging	Het
Gcnt2	A	C	13: 41,014,717 (GRCm39)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,913,870 (GRCm39)	C251S	probably damaging	Het
Gpam	G	A	19: 55,059,417 (GRCm39)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,366,726 (GRCm39)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,036,427 (GRCm39)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,012,570 (GRCm39)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,552,830 (GRCm39)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,926,058 (GRCm39)	I66N	probably damaging	Het
Klk1b27	A	T	7: 43,703,974 (GRCm39)	H39L	probably benign	Het
Kmo	C	T	1: 175,487,261 (GRCm39)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,125,884 (GRCm39)		probably null	Het
Magi3	G	C	3: 103,923,013 (GRCm39)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Med15	G	A	16: 17,470,609 (GRCm39)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh13	A	G	11: 67,253,327 (GRCm39)	M1488V	probably benign	Het
Naip2	A	T	13: 100,288,645 (GRCm39)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,742,014 (GRCm39)	M181K	probably damaging	Het
Npepps	A	T	11: 97,104,616 (GRCm39)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,661,363 (GRCm39)	F301S	probably damaging	Het
Nynrin	G	A	14: 56,105,485 (GRCm39)	V832I	probably damaging	Het
Or13a28	C	A	7: 140,218,346 (GRCm39)	S244Y	probably damaging	Het
Or1j14	T	A	2: 36,418,353 (GRCm39)	C310S	probably benign	Het
Or2ak7	A	T	11: 58,574,830 (GRCm39)	T44S	possibly damaging	Het
Or4e1	T	A	14: 52,701,352 (GRCm39)	Y38F	probably damaging	Het
Or8k1	T	A	2: 86,047,566 (GRCm39)	T163S	possibly damaging	Het
Phrf1	T	A	7: 140,817,586 (GRCm39)	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,315,015 (GRCm39)		probably null	Het
Polr2a	G	A	11: 69,635,052 (GRCm39)	T569M	probably damaging	Het
Prr29	A	G	11: 106,267,458 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sc5d	T	C	9: 42,166,717 (GRCm39)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,731,087 (GRCm39)		probably null	Het
Serpinb11	T	A	1: 107,299,972 (GRCm39)	I106N	probably damaging	Het
Setd2	G	A	9: 110,377,733 (GRCm39)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,487,222 (GRCm39)	C291F	probably damaging	Het
Stac3	T	C	10: 127,344,044 (GRCm39)	V314A	probably damaging	Het
Stat6	C	T	10: 127,493,581 (GRCm39)		probably null	Het
Strn3	A	G	12: 51,656,890 (GRCm39)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,233,437 (GRCm39)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,704,328 (GRCm39)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,136,817 (GRCm39)	T129K	probably damaging	Het
Triml1	G	T	8: 43,591,793 (GRCm39)	Y188*	probably null	Het
Trpc7	A	G	13: 56,921,705 (GRCm39)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,458,246 (GRCm39)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,983,827 (GRCm39)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,508,116 (GRCm39)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,324,102 (GRCm39)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,940,503 (GRCm39)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,705,798 (GRCm39)	Y426H	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
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
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'- GCACCTTGTCCTAATTGGGAAC -3'
(R):5'- CAGGTCACTTTCTGTATTACATGGG -3'

Sequencing Primer
(F):5'- CCAAATCGATCGGATCCCTGG -3'
(R):5'- GCTTTACAGTCTTAAATGAGTCTGTC -3'

Posted On

2018-02-28