Incidental Mutation 'IGL02070:Ecm2'
ID285444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ecm2
Ensembl Gene ENSMUSG00000043631
Gene Nameextracellular matrix protein 2, female organ and adipocyte specific
Synonymstenonectin, 9030618O22Rik
Accession Numbers

Ncbi RefSeq: NM_001012324.2; MGI:3039578

Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock #IGL02070
Quality Score
Status
Chromosome13
Chromosomal Location49504810-49532789 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49518370 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 116 (C116R)
Ref Sequence ENSEMBL: ENSMUSP00000060402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000051504]
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 damaging
Transcript: ENSMUST00000051504
AA Change: C116R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060402
Gene: ENSMUSG00000043631
AA Change: C116R

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T C 17: 33,066,130 E566G probably damaging Het
Adgrg6 A G 10: 14,467,592 Y204H probably damaging Het
Akap13 C A 7: 75,666,545 T583K probably benign Het
Alms1 C A 6: 85,651,403 Q2948K possibly damaging Het
Auts2 C T 5: 131,470,421 R327Q probably damaging Het
Card14 A C 11: 119,344,704 E988A probably damaging Het
Ccl25 T C 8: 4,348,700 probably benign Het
Cttnbp2nl A C 3: 105,011,266 V86G probably damaging Het
Cyb5r2 G A 7: 107,751,187 T213I probably damaging Het
Ear6 A G 14: 51,854,446 H150R probably damaging Het
Gabrr2 G T 4: 33,095,340 E385* probably null Het
Hyal5 T A 6: 24,876,962 V278D probably damaging Het
Mboat1 T C 13: 30,224,397 L181P probably benign Het
Mdm1 A G 10: 118,146,618 I53V probably damaging Het
Mfrp T C 9: 44,104,689 Y368H probably benign Het
Myo1b A G 1: 51,794,337 V365A probably damaging Het
Nexmif G T X: 104,083,211 H1509Q probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Obox6 G A 7: 15,834,879 S24L probably damaging Het
Olfr1184 T A 2: 88,487,002 I90N probably damaging Het
Olfr682-ps1 G T 7: 105,127,047 L85I probably benign Het
Optc T A 1: 133,901,176 I178F probably damaging Het
Pcdh15 T A 10: 74,630,868 N1535K probably benign Het
Pcdhb19 A T 18: 37,498,544 N464I probably damaging Het
Pcsk5 C T 19: 17,439,042 V1681I probably benign Het
Pknox1 T A 17: 31,603,365 probably benign Het
Ppa2 T C 3: 133,377,862 F327S probably damaging Het
Rab39b G T X: 75,574,703 L174M probably damaging Het
Reep5 A T 18: 34,372,473 Y48* probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1a T A 10: 61,684,894 probably benign Het
Satb1 T A 17: 51,740,067 D740V probably damaging Het
Sema3f G A 9: 107,692,241 T128I probably damaging Het
Snx1 A T 9: 66,098,449 S129R probably damaging Het
Sptb T A 12: 76,605,539 K1641N possibly damaging Het
Sptbn1 T C 11: 30,145,979 E305G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Taar7d A T 10: 24,028,254 I345F probably benign Het
Tes T C 6: 17,099,780 L258P probably damaging Het
Trav9-4 A T 14: 53,676,360 T24S possibly damaging Het
Utp20 A G 10: 88,821,877 probably benign Het
Vcam1 T A 3: 116,125,997 T207S probably benign Het
Xkrx T C X: 134,150,562 S447G probably benign Het
Zfp318 T C 17: 46,396,718 L234P probably damaging Het
Other mutations in Ecm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00677:Ecm2 APN 13 49531318 missense probably benign 0.14
IGL01685:Ecm2 APN 13 49528898 missense probably damaging 1.00
IGL02108:Ecm2 APN 13 49518444 nonsense probably null
IGL02138:Ecm2 APN 13 49522828 missense probably damaging 1.00
IGL02937:Ecm2 APN 13 49518476 missense probably damaging 0.99
IGL03350:Ecm2 APN 13 49520944 missense probably benign
R0049:Ecm2 UTSW 13 49524446 nonsense probably null
R0049:Ecm2 UTSW 13 49524446 nonsense probably null
R0627:Ecm2 UTSW 13 49521083 splice site probably benign
R1515:Ecm2 UTSW 13 49518332 missense possibly damaging 0.87
R1864:Ecm2 UTSW 13 49530145 missense probably benign 0.28
R1865:Ecm2 UTSW 13 49530145 missense probably benign 0.28
R1991:Ecm2 UTSW 13 49530256 missense probably benign 0.28
R2103:Ecm2 UTSW 13 49530256 missense probably benign 0.28
R2181:Ecm2 UTSW 13 49530289 missense probably damaging 1.00
R2209:Ecm2 UTSW 13 49530156 missense probably damaging 1.00
R2568:Ecm2 UTSW 13 49530129 missense possibly damaging 0.81
R4856:Ecm2 UTSW 13 49522787 missense possibly damaging 0.47
R4867:Ecm2 UTSW 13 49531345 missense probably damaging 0.99
R4886:Ecm2 UTSW 13 49522787 missense possibly damaging 0.47
R5368:Ecm2 UTSW 13 49520943 missense probably benign
R5420:Ecm2 UTSW 13 49527734 missense possibly damaging 0.65
R6084:Ecm2 UTSW 13 49515094 nonsense probably null
R6244:Ecm2 UTSW 13 49530307 missense probably damaging 1.00
R6881:Ecm2 UTSW 13 49530342 nonsense probably null
R6931:Ecm2 UTSW 13 49529011 missense probably benign 0.00
R7085:Ecm2 UTSW 13 49520902 missense probably damaging 1.00
R7347:Ecm2 UTSW 13 49515078 missense probably damaging 0.99
R7490:Ecm2 UTSW 13 49530342 nonsense probably null
R8039:Ecm2 UTSW 13 49514850 missense probably benign
R8131:Ecm2 UTSW 13 49518464 missense probably benign 0.33
Posted On2015-04-16