Incidental Mutation 'IGL00677:Ecm2'
ID 10440
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ecm2
Ensembl Gene ENSMUSG00000043631
Gene Name extracellular matrix protein 2, female organ and adipocyte specific
Synonyms tenonectin, 9030618O22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # IGL00677
Quality Score
Status
Chromosome 13
Chromosomal Location 49658286-49686265 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 49684794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 634 (E634K)
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: E634K

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: E634K

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
Coding Region Coverage
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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cyb5b A G 8: 107,897,048 (GRCm39) D106G probably benign Het
Mgl2 T C 11: 70,027,932 (GRCm39) V380A probably benign Het
Muc5b A T 7: 141,411,631 (GRCm39) K1526* probably null Het
Naip6 G A 13: 100,452,525 (GRCm39) R179C probably benign Het
Nin T A 12: 70,073,634 (GRCm39) K1173I probably damaging Het
Nol4 G T 18: 23,054,924 (GRCm39) P96T probably damaging Het
Spink11 C T 18: 44,325,701 (GRCm39) probably null Het
Srgap2 A T 1: 131,284,438 (GRCm39) M231K possibly damaging Het
Other mutations in Ecm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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. ECM2 has been detected in adipose tissue and mammary gland. Northern blot analysis also detected the ECM2 transcript in uterus and ovary (1).
References
Posted On 2012-12-06
Science Writer Anne Murray