Mutagenetix > Incidental Mutation

Incidental Mutation 'R8039:Ecm2'

618434

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

067476-MU

Accession Numbers

Essential gene?

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

Stock #

R8039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49658286-49686265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49668326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 10 (I10F)

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: I10F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: I10F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,547,699 (GRCm39)	H225R	probably damaging	Het
Adgrb2	T	A	4: 129,916,061 (GRCm39)	L1451Q	probably damaging	Het
Afdn	T	C	17: 14,119,403 (GRCm39)	L1713P	probably damaging	Het
Agr2	A	T	12: 36,045,558 (GRCm39)	I15F	probably benign	Het
Agrn	T	C	4: 156,253,468 (GRCm39)	T1808A	probably benign	Het
Akap6	A	G	12: 53,188,459 (GRCm39)	I1958V	probably benign	Het
Ankrd60	C	A	2: 173,414,284 (GRCm39)		probably null	Het
Anpep	A	G	7: 79,489,148 (GRCm39)		probably null	Het
Apoa4	A	T	9: 46,153,591 (GRCm39)	D64V	possibly damaging	Het
Arhgef26	C	A	3: 62,247,351 (GRCm39)	T145N	probably benign	Het
Art1	A	T	7: 101,756,052 (GRCm39)	Q81L	probably benign	Het
Astl	A	T	2: 127,185,903 (GRCm39)	S71C	probably damaging	Het
Atp2a1	A	G	7: 126,047,977 (GRCm39)	I611T	probably damaging	Het
Bltp1	T	A	3: 36,997,363 (GRCm39)	V1140E	probably benign	Het
Cacna2d2	T	A	9: 107,404,632 (GRCm39)	V1139D	possibly damaging	Het
Castor1	G	T	11: 4,171,639 (GRCm39)	A288S	probably damaging	Het
Chst10	T	A	1: 38,905,112 (GRCm39)	K198*	probably null	Het
Ckmt2	G	A	13: 92,011,431 (GRCm39)	H60Y	possibly damaging	Het
Coq7	G	C	7: 118,132,469 (GRCm39)	S2R	possibly damaging	Het
Cspp1	T	A	1: 10,183,238 (GRCm39)	D814E	probably benign	Het
Cyp2c54	CCTCTTTCATAGCTCT	CCTCT	19: 40,062,176 (GRCm39)		probably null	Het
Daam2	C	A	17: 49,771,566 (GRCm39)	G860V	probably damaging	Het
Epb41l1	A	T	2: 156,348,332 (GRCm39)	D312V	probably damaging	Het
Epsti1	G	A	14: 78,168,741 (GRCm39)	R126H	probably damaging	Het
Erc1	A	T	6: 119,750,626 (GRCm39)	Y367*	probably null	Het
Erh	T	A	12: 80,684,352 (GRCm39)	R42W	probably damaging	Het
Fam124a	C	T	14: 62,843,325 (GRCm39)	Q278*	probably null	Het
Fbxo3	T	A	2: 103,885,286 (GRCm39)	L385Q	probably damaging	Het
Fbxo31	T	A	8: 122,285,794 (GRCm39)	T219S	probably damaging	Het
Fstl5	T	G	3: 76,555,725 (GRCm39)	V534G	possibly damaging	Het
Gbp2b	A	T	3: 142,323,925 (GRCm39)	I577F	probably benign	Het
Gbp8	A	T	5: 105,198,783 (GRCm39)	L44*	probably null	Het
Gck	C	T	11: 5,860,301 (GRCm39)	A114T	probably benign	Het
Gtf2i	A	G	5: 134,284,688 (GRCm39)	V537A	possibly damaging	Het
Iqcm	C	A	8: 76,489,733 (GRCm39)	H400Q	probably damaging	Het
Iqcn	T	C	8: 71,163,555 (GRCm39)	V916A	probably benign	Het
Itpr1	T	C	6: 108,363,589 (GRCm39)	L737P	probably damaging	Het
Jakmip1	A	G	5: 37,258,116 (GRCm39)	E254G	probably damaging	Het
Kif15	A	T	9: 122,836,490 (GRCm39)	R1095W	possibly damaging	Het
Klhdc8a	G	A	1: 132,230,846 (GRCm39)	R237Q	probably benign	Het
Klhl38	T	C	15: 58,186,258 (GRCm39)	E157G	probably benign	Het
Klrk1	T	A	6: 129,589,786 (GRCm39)	N221I	probably benign	Het
Lhx8	A	T	3: 154,012,576 (GRCm39)	H345Q	probably damaging	Het
Lims1	T	A	10: 58,245,494 (GRCm39)	N174K	probably benign	Het
Madd	T	A	2: 90,997,406 (GRCm39)	Q754L	probably benign	Het
Mau2	T	C	8: 70,472,440 (GRCm39)	D581G	probably damaging	Het
Miga1	A	T	3: 151,982,393 (GRCm39)	I561N	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mob3c	T	C	4: 115,688,884 (GRCm39)	V139A	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nalf1	T	C	8: 9,257,892 (GRCm39)	T419A	probably benign	Het
Ncapd2	C	T	6: 125,157,989 (GRCm39)	V380I	probably damaging	Het
Nes	G	A	3: 87,884,315 (GRCm39)	R858K	probably benign	Het
Nphp3	T	C	9: 103,909,162 (GRCm39)	S791P	probably benign	Het
Nup210	T	C	6: 91,047,215 (GRCm39)	T496A	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	C	T	2: 88,356,215 (GRCm39)	T96I	probably benign	Het
Or6y1	T	A	1: 174,277,162 (GRCm39)	S324R	unknown	Het
Or8b50	T	A	9: 38,518,685 (GRCm39)	M308K	probably benign	Het
Ovgp1	T	A	3: 105,883,339 (GRCm39)	S105T	probably benign	Het
Pbld2	T	A	10: 62,883,771 (GRCm39)	C79S	probably damaging	Het
Pik3cd	T	A	4: 149,744,323 (GRCm39)	M143L	possibly damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Poln	A	G	5: 34,280,016 (GRCm39)	V282A	probably benign	Het
Ppp1r11	T	C	17: 37,262,338 (GRCm39)	T21A	probably damaging	Het
Prpf8	T	A	11: 75,393,368 (GRCm39)	I1664N	possibly damaging	Het
Prr29	C	T	11: 106,267,738 (GRCm39)	A161V	probably benign	Het
Rasa3	T	C	8: 13,638,931 (GRCm39)	D292G	probably damaging	Het
Rnf25	T	C	1: 74,633,123 (GRCm39)	T411A	probably damaging	Het
Rraga	C	T	4: 86,494,217 (GRCm39)	T21I	probably damaging	Het
Setdb2	T	A	14: 59,639,824 (GRCm39)	Y673F	probably damaging	Het
Sf3a1	C	T	11: 4,117,787 (GRCm39)	T183I	probably damaging	Het
Shank3	A	T	15: 89,389,642 (GRCm39)	H413L	probably damaging	Het
Slc30a5	A	G	13: 100,950,189 (GRCm39)		probably null	Het
Slc6a18	T	C	13: 73,813,745 (GRCm39)	S523G	probably benign	Het
Spaca1	C	T	4: 34,044,207 (GRCm39)	V96I	probably damaging	Het
Sycp2	C	T	2: 178,016,378 (GRCm39)	A695T	probably benign	Het
Tnrc18	C	A	5: 142,717,807 (GRCm39)	G2216C	unknown	Het
Trak2	T	C	1: 58,985,447 (GRCm39)	N17S	probably benign	Het
Ttn	T	A	2: 76,708,776 (GRCm39)	N8792I	unknown	Het
Ttyh1	T	C	7: 4,125,540 (GRCm39)	V64A	probably benign	Het
Usb1	T	A	8: 96,060,041 (GRCm39)	S50R	probably damaging	Het
Ush2a	T	A	1: 188,689,570 (GRCm39)	I5044N	probably damaging	Het
Vmn1r84	A	T	7: 12,095,935 (GRCm39)	F253I	possibly damaging	Het
Vmn2r99	T	C	17: 19,600,302 (GRCm39)	I442T	probably benign	Het
Vsig1	C	T	X: 139,833,875 (GRCm39)	H232Y	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
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
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'- TGACTCAGCAATAAACTGCAGG -3'
(R):5'- GAAGCGATTCTATGTTTTCTTCCAC -3'

Sequencing Primer
(F):5'- GCAATAAACTGCAGGATCCAG -3'
(R):5'- TCCACACTGTAATCAGAGTTGGCAG -3'

Posted On

2020-01-23