Incidental Mutation 'R5368:Ecm2'
ID 429495
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 043204-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R5368 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 49658286-49686265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 49674419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 280 (T280P)
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

DomainStartEndE-ValueType
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: T280P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: T280P

DomainStartEndE-ValueType
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (61/63)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 130,740,925 (GRCm39) H97L possibly damaging Het
Abca9 T A 11: 110,036,372 (GRCm39) N579I probably damaging Het
Acbd3 A T 1: 180,549,660 (GRCm39) probably benign Het
Ankrd50 A T 3: 38,509,199 (GRCm39) I1056N probably damaging Het
Ceacam18 T C 7: 43,291,458 (GRCm39) V300A probably benign Het
Cfap46 C A 7: 139,207,389 (GRCm39) R1843S possibly damaging Het
D430041D05Rik A G 2: 104,078,629 (GRCm39) V1229A probably damaging Het
Dbx2 G A 15: 95,538,522 (GRCm39) S206L probably benign Het
Dnah11 A T 12: 117,918,628 (GRCm39) D1530E probably damaging Het
Emc2 G A 15: 43,375,207 (GRCm39) probably null Het
Epb42 C T 2: 120,849,943 (GRCm39) V689I probably benign Het
Fam114a1 T A 5: 65,163,452 (GRCm39) M209K possibly damaging Het
Fam117a C T 11: 95,266,459 (GRCm39) S193F probably damaging Het
Foxp2 A T 6: 15,377,913 (GRCm39) probably benign Het
Frmd6 T A 12: 70,910,874 (GRCm39) C19* probably null Het
Fyb1 A G 15: 6,610,159 (GRCm39) probably null Het
Gata6 C A 18: 11,063,059 (GRCm39) H442Q possibly damaging Het
Gldc A G 19: 30,135,921 (GRCm39) S160P probably benign Het
Gm3952 A G 8: 129,472,455 (GRCm39) S1626P possibly damaging Het
Gm9762 T A 3: 78,873,742 (GRCm39) noncoding transcript Het
Gtpbp2 T C 17: 46,477,230 (GRCm39) probably benign Het
Hgd A T 16: 37,410,113 (GRCm39) T50S probably benign Het
Itpr1 C T 6: 108,364,459 (GRCm39) T22M probably damaging Het
Kif26b G A 1: 178,743,449 (GRCm39) E1182K probably damaging Het
Kirrel3 A G 9: 34,919,034 (GRCm39) E230G probably damaging Het
Leng8 A G 7: 4,142,987 (GRCm39) Y88C probably damaging Het
Lpo T C 11: 87,711,895 (GRCm39) D54G possibly damaging Het
Lypd2 G T 15: 74,604,908 (GRCm39) A29E probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mical3 T C 6: 120,936,434 (GRCm39) Y1364C probably damaging Het
Mroh2b A G 15: 4,935,054 (GRCm39) N163S probably damaging Het
Mtf1 G A 4: 124,718,872 (GRCm39) C295Y probably damaging Het
Nbn T A 4: 15,969,391 (GRCm39) L212Q probably damaging Het
Obscn A T 11: 58,959,852 (GRCm39) probably null Het
Or10ag56 T A 2: 87,139,126 (GRCm39) probably null Het
Or4c110 A G 2: 88,832,435 (GRCm39) S66P probably damaging Het
Peli1 A G 11: 21,098,389 (GRCm39) T375A probably damaging Het
Picalm T C 7: 89,856,803 (GRCm39) *611Q probably null Het
Plch1 G T 3: 63,609,394 (GRCm39) Q938K possibly damaging Het
Plxnb2 A G 15: 89,043,796 (GRCm39) V1352A possibly damaging Het
Pmepa1 G A 2: 173,070,115 (GRCm39) R147W probably damaging Het
Prdm16 T G 4: 154,429,848 (GRCm39) K373Q probably damaging Het
Qki T G 17: 10,457,964 (GRCm39) E135A probably damaging Het
Rad50 T C 11: 53,575,073 (GRCm39) K556E probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sin3a T A 9: 57,018,084 (GRCm39) D834E possibly damaging Het
Smg8 G A 11: 86,971,086 (GRCm39) S895L probably benign Het
Sorl1 T C 9: 41,890,686 (GRCm39) I1944M probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tmprss7 A T 16: 45,481,252 (GRCm39) W645R probably damaging Het
Tns1 T C 1: 73,980,176 (GRCm39) M1111V probably benign Het
Ttn A C 2: 76,608,726 (GRCm39) D17763E probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 G A 4: 139,124,839 (GRCm39) probably benign Het
Usp31 T C 7: 121,260,588 (GRCm39) H637R probably damaging Het
Vps50 A C 6: 3,567,739 (GRCm39) E545A possibly damaging Het
Wdfy3 G T 5: 102,020,724 (GRCm39) L2527M probably damaging Het
Wfdc2 T C 2: 164,405,354 (GRCm39) V85A possibly damaging Het
Other mutations in Ecm2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GCCTACTAAGATCCATGGCG -3'
(R):5'- TCATATGGCGGTAAAATTCACCC -3'

Sequencing Primer
(F):5'- CTGAGAGAAAACTGAGGCCG -3'
(R):5'- GGCGGTAAAATTCACCCTTATATCTG -3'
Posted On 2016-09-06