Mutagenetix > Incidental Mutation

Incidental Mutation 'R6931:Ecm2'

540052

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

045326-MU

Accession Numbers

Ncbi RefSeq: NM_001012324.2; MGI:3039578

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R6931 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49504810-49532789 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49529011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 505 (Q505H)

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: Q505H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: Q505H

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: 99.4%
20x: 98.0%

Validation Efficiency

99% (77/78)

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
1700123L14Rik	T	C	6: 96,165,548 (GRCm38)	T172A	possibly damaging	Het
2310003L06Rik	T	A	5: 87,970,702 (GRCm38)	I15N	probably damaging	Het
2900092C05Rik	T	A	7: 12,512,596 (GRCm38)	S6R	unknown	Het
Abca6	T	A	11: 110,244,328 (GRCm38)	L210F	probably benign	Het
Abcc4	T	C	14: 118,527,988 (GRCm38)	Q919R	probably damaging	Het
Adcy1	A	G	11: 7,150,884 (GRCm38)	D811G	possibly damaging	Het
Akna	A	G	4: 63,387,102 (GRCm38)	S476P	probably benign	Het
Ankrd49	T	C	9: 14,782,826 (GRCm38)	N15S	probably benign	Het
Apcdd1	A	G	18: 62,933,908 (GRCm38)	D31G	probably damaging	Het
Aplp1	G	T	7: 30,443,200 (GRCm38)	R106S	probably damaging	Het
Arhgap40	T	C	2: 158,531,218 (GRCm38)	L132S	probably benign	Het
Atp8b5	G	T	4: 43,364,108 (GRCm38)		probably null	Het
Axl	T	C	7: 25,761,433 (GRCm38)	D717G	probably damaging	Het
Bub1	T	A	2: 127,801,382 (GRCm38)	D1014V	probably damaging	Het
Cacna2d4	T	A	6: 119,282,234 (GRCm38)	V603E	possibly damaging	Het
Cnot11	G	C	1: 39,539,921 (GRCm38)	C289S	probably damaging	Het
Coasy	A	G	11: 101,083,581 (GRCm38)	H191R	probably benign	Het
Cyp11a1	A	T	9: 58,025,120 (GRCm38)	N341Y	possibly damaging	Het
Cyp1a2	T	C	9: 57,682,156 (GRCm38)	N125S	probably benign	Het
Cyp2j8	A	T	4: 96,444,781 (GRCm38)		probably null	Het
Dnah9	A	T	11: 66,117,626 (GRCm38)	I791K	possibly damaging	Het
Fam135a	T	A	1: 24,085,487 (GRCm38)	M1L	probably damaging	Het
Fam171a2	A	G	11: 102,438,434 (GRCm38)	S500P	possibly damaging	Het
Fat3	A	G	9: 15,959,942 (GRCm38)	S3718P	possibly damaging	Het
Frem1	G	A	4: 82,970,677 (GRCm38)	P1085S	probably damaging	Het
Gcfc2	A	G	6: 81,942,985 (GRCm38)	I390V	probably benign	Het
Gemin4	A	G	11: 76,210,956 (GRCm38)	L993P	probably damaging	Het
Ggnbp2	T	A	11: 84,833,167 (GRCm38)	D647V	probably damaging	Het
Gm7534	A	T	4: 134,193,153 (GRCm38)	M567K	probably benign	Het
Gpr84	A	C	15: 103,309,014 (GRCm38)	L212R	probably damaging	Het
Hnrnpu	T	C	1: 178,331,432 (GRCm38)		probably benign	Het
Hspg2	G	T	4: 137,540,720 (GRCm38)	C2116F	probably damaging	Het
Icam4	T	A	9: 21,030,451 (GRCm38)	V249E	probably damaging	Het
Itga1	T	C	13: 115,001,563 (GRCm38)	N429D	probably benign	Het
Kcns1	T	C	2: 164,164,838 (GRCm38)	T402A	probably damaging	Het
Ky	T	A	9: 102,537,627 (GRCm38)	V246E	probably damaging	Het
March1	A	G	8: 66,468,492 (GRCm38)	T529A	probably benign	Het
Med18	C	G	4: 132,459,883 (GRCm38)	V102L	probably damaging	Het
Mlst8	T	C	17: 24,477,275 (GRCm38)	D160G	probably damaging	Het
Mthfd1	T	C	12: 76,303,698 (GRCm38)	I470T	probably benign	Het
Muc1	C	T	3: 89,229,159 (GRCm38)		probably benign	Het
Mup8	G	A	4: 60,220,322 (GRCm38)	L137F	probably damaging	Het
Mybpc1	A	T	10: 88,542,330 (GRCm38)	L341*	probably null	Het
Nacad	A	G	11: 6,601,877 (GRCm38)	F438S	probably benign	Het
Necap2	C	A	4: 141,078,212 (GRCm38)		probably null	Het
Nifk	T	C	1: 118,332,348 (GRCm38)	L163S	possibly damaging	Het
Npsr1	A	G	9: 24,289,997 (GRCm38)	I73V	probably benign	Het
Olfr1179	G	A	2: 88,402,064 (GRCm38)	T290I	probably benign	Het
Olfr1186	T	A	2: 88,526,194 (GRCm38)	C204S	possibly damaging	Het
Olfr142	A	T	2: 90,252,777 (GRCm38)	C70*	probably null	Het
Olfr715	A	G	7: 107,128,901 (GRCm38)	L164P	probably damaging	Het
Oog3	C	T	4: 144,159,353 (GRCm38)	C225Y	probably benign	Het
Plagl2	C	A	2: 153,235,943 (GRCm38)	K39N	probably benign	Het
Plcg2	T	A	8: 117,557,319 (GRCm38)	D118E	probably benign	Het
Ppp4r3b	A	T	11: 29,211,786 (GRCm38)	K720I	possibly damaging	Het
Prmt3	A	T	7: 49,829,016 (GRCm38)	T442S	probably benign	Het
Prr14l	G	A	5: 32,830,691 (GRCm38)	H487Y	probably damaging	Het
Psmb3	G	A	11: 97,703,971 (GRCm38)	V63I	probably benign	Het
Psmc6	T	A	14: 45,343,725 (GRCm38)	I326K	possibly damaging	Het
Ptcd1	T	C	5: 145,155,075 (GRCm38)	T405A	probably benign	Het
Rbm33	G	A	5: 28,410,745 (GRCm38)	V29M	probably damaging	Het
Rsrc1	C	T	3: 66,994,649 (GRCm38)	P44L	unknown	Het
Scarb1	T	A	5: 125,284,719 (GRCm38)	I107F	probably damaging	Het
Slc39a12	A	G	2: 14,389,375 (GRCm38)	S19G	probably benign	Het
Slc44a5	T	C	3: 154,258,506 (GRCm38)	V503A	probably benign	Het
Slc9a9	T	C	9: 94,670,086 (GRCm38)	S9P	possibly damaging	Het
Snrnp35	A	C	5: 124,490,701 (GRCm38)	R192S	possibly damaging	Het
Tbx15	T	C	3: 99,352,151 (GRCm38)	L446P	probably damaging	Het
Tlnrd1	A	G	7: 83,882,597 (GRCm38)	F209L	probably benign	Het
Tmprss12	C	T	15: 100,285,268 (GRCm38)	R164C	probably damaging	Het
Tnfsf4	T	A	1: 161,417,073 (GRCm38)	F111Y	possibly damaging	Het
Trib2	A	T	12: 15,793,639 (GRCm38)	M198K	probably benign	Het
Ttll8	A	G	15: 88,914,304 (GRCm38)	S743P	possibly damaging	Het
Ush2a	A	T	1: 188,728,383 (GRCm38)	N2614Y	probably benign	Het
Usp6nl	G	A	2: 6,430,458 (GRCm38)	V343I	possibly damaging	Het
Vrtn	C	A	12: 84,650,242 (GRCm38)	Q589K	probably benign	Het
Zbed5	T	A	5: 129,903,329 (GRCm38)	Y706*	probably null	Het
Zc3h10	A	G	10: 128,544,684 (GRCm38)	V268A	probably damaging	Het
Zfp442	C	T	2: 150,410,940 (GRCm38)		probably null	Het

Other mutations in Ecm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00677:Ecm2	APN	13	49,531,318 (GRCm38)	missense	probably benign	0.14
IGL01685:Ecm2	APN	13	49,528,898 (GRCm38)	missense	probably damaging	1.00
IGL02070:Ecm2	APN	13	49,518,370 (GRCm38)	missense	probably damaging	1.00
IGL02108:Ecm2	APN	13	49,518,444 (GRCm38)	nonsense	probably null
IGL02138:Ecm2	APN	13	49,522,828 (GRCm38)	missense	probably damaging	1.00
IGL02937:Ecm2	APN	13	49,518,476 (GRCm38)	missense	probably damaging	0.99
IGL03350:Ecm2	APN	13	49,520,944 (GRCm38)	missense	probably benign
R0049:Ecm2	UTSW	13	49,524,446 (GRCm38)	nonsense	probably null
R0049:Ecm2	UTSW	13	49,524,446 (GRCm38)	nonsense	probably null
R0627:Ecm2	UTSW	13	49,521,083 (GRCm38)	splice site	probably benign
R1515:Ecm2	UTSW	13	49,518,332 (GRCm38)	missense	possibly damaging	0.87
R1864:Ecm2	UTSW	13	49,530,145 (GRCm38)	missense	probably benign	0.28
R1865:Ecm2	UTSW	13	49,530,145 (GRCm38)	missense	probably benign	0.28
R1991:Ecm2	UTSW	13	49,530,256 (GRCm38)	missense	probably benign	0.28
R2103:Ecm2	UTSW	13	49,530,256 (GRCm38)	missense	probably benign	0.28
R2181:Ecm2	UTSW	13	49,530,289 (GRCm38)	missense	probably damaging	1.00
R2209:Ecm2	UTSW	13	49,530,156 (GRCm38)	missense	probably damaging	1.00
R2568:Ecm2	UTSW	13	49,530,129 (GRCm38)	missense	possibly damaging	0.81
R4856:Ecm2	UTSW	13	49,522,787 (GRCm38)	missense	possibly damaging	0.47
R4867:Ecm2	UTSW	13	49,531,345 (GRCm38)	missense	probably damaging	0.99
R4886:Ecm2	UTSW	13	49,522,787 (GRCm38)	missense	possibly damaging	0.47
R5368:Ecm2	UTSW	13	49,520,943 (GRCm38)	missense	probably benign
R5420:Ecm2	UTSW	13	49,527,734 (GRCm38)	missense	possibly damaging	0.65
R6084:Ecm2	UTSW	13	49,515,094 (GRCm38)	nonsense	probably null
R6244:Ecm2	UTSW	13	49,530,307 (GRCm38)	missense	probably damaging	1.00
R6881:Ecm2	UTSW	13	49,530,342 (GRCm38)	nonsense	probably null
R7085:Ecm2	UTSW	13	49,520,902 (GRCm38)	missense	probably damaging	1.00
R7347:Ecm2	UTSW	13	49,515,078 (GRCm38)	missense	probably damaging	0.99
R7490:Ecm2	UTSW	13	49,530,342 (GRCm38)	nonsense	probably null
R8039:Ecm2	UTSW	13	49,514,850 (GRCm38)	missense	probably benign
R8131:Ecm2	UTSW	13	49,518,464 (GRCm38)	missense	probably benign	0.33
R8333:Ecm2	UTSW	13	49,518,383 (GRCm38)	missense	probably damaging	1.00
R8345:Ecm2	UTSW	13	49,520,800 (GRCm38)	missense	probably benign	0.00
R9042:Ecm2	UTSW	13	49,528,963 (GRCm38)	nonsense	probably null
R9286:Ecm2	UTSW	13	49,530,220 (GRCm38)	missense
R9334:Ecm2	UTSW	13	49,524,339 (GRCm38)	missense	probably benign	0.00
R9390:Ecm2	UTSW	13	49,530,316 (GRCm38)	missense	probably benign	0.00
R9610:Ecm2	UTSW	13	49,527,740 (GRCm38)	missense	probably damaging	1.00
R9610:Ecm2	UTSW	13	49,515,042 (GRCm38)	missense	probably benign	0.39
R9611:Ecm2	UTSW	13	49,527,740 (GRCm38)	missense	probably damaging	1.00
R9611:Ecm2	UTSW	13	49,515,042 (GRCm38)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- TCCCATAATCATGATAGGCAGTAC -3'
(R):5'- AGCATTTGATTGTTAGGGATCAGC -3'

Sequencing Primer
(F):5'- TGGATGCCATTGAATACAAACAG -3'
(R):5'- GGATCAGCCCTCATTTCTTGC -3'

Posted On

2018-11-06