Incidental Mutation 'R2892:Mmrn2'
ID 260137
Institutional Source Beutler Lab
Gene Symbol Mmrn2
Ensembl Gene ENSMUSG00000041445
Gene Name multimerin 2
Synonyms ENDOGLYX1, EndoGlyx-1, Emilin3
MMRRC Submission 040480-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R2892 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 34097461-34126244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 34118587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 158 (F158V)
Ref Sequence ENSEMBL: ENSMUSP00000107539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111908]
AlphaFold A6H6E2
Predicted Effect probably benign
Transcript: ENSMUST00000111908
AA Change: F158V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: F158V

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:EMI 55 127 1.1e-15 PFAM
low complexity region 174 186 N/A INTRINSIC
low complexity region 356 362 N/A INTRINSIC
coiled coil region 387 480 N/A INTRINSIC
coiled coil region 533 583 N/A INTRINSIC
coiled coil region 688 715 N/A INTRINSIC
Pfam:C1q 821 940 1.5e-27 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000227130
AA Change: F79V
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,751,661 (GRCm39) D232G probably damaging Het
Ank2 T C 3: 127,041,892 (GRCm39) probably null Het
Atp6v0a4 T C 6: 38,029,952 (GRCm39) E704G probably benign Het
Bbx A G 16: 50,045,104 (GRCm39) Y378H probably damaging Het
Carmil3 T C 14: 55,735,770 (GRCm39) V574A probably damaging Het
Cpz A G 5: 35,668,473 (GRCm39) V379A probably damaging Het
Cyp4f15 A G 17: 32,905,182 (GRCm39) D55G probably benign Het
Dcun1d2 A T 8: 13,328,649 (GRCm39) I86N probably damaging Het
Defa30 A T 8: 21,624,679 (GRCm39) M1L probably damaging Het
Fzd8 G T 18: 9,214,514 (GRCm39) G532V probably damaging Het
Gcfc2 T C 6: 81,933,894 (GRCm39) F717S possibly damaging Het
Gckr T C 5: 31,483,816 (GRCm39) V563A probably benign Het
Ighv1-24 T G 12: 114,736,679 (GRCm39) K74Q probably benign Het
Kcnj3 A T 2: 55,337,027 (GRCm39) I298F probably damaging Het
Miga2 A T 2: 30,268,306 (GRCm39) probably null Het
Mug1 G A 6: 121,817,029 (GRCm39) V33M possibly damaging Het
Myom1 T C 17: 71,341,648 (GRCm39) S136P probably damaging Het
Nadk A G 4: 155,671,817 (GRCm39) N232S possibly damaging Het
Or6c217 A G 10: 129,737,809 (GRCm39) Y257H possibly damaging Het
Or7g27 A G 9: 19,250,034 (GRCm39) T93A probably benign Het
Pcnx2 A G 8: 126,617,797 (GRCm39) S153P probably damaging Het
Pde8b T C 13: 95,170,767 (GRCm39) D633G probably damaging Het
Pik3ap1 G A 19: 41,364,500 (GRCm39) A73V probably benign Het
Plrg1 C A 3: 82,978,547 (GRCm39) Q438K probably damaging Het
Plxna4 A G 6: 32,493,972 (GRCm39) Y215H probably damaging Het
Rapsn A T 2: 90,867,169 (GRCm39) D157V probably damaging Het
Rock1 G A 18: 10,072,863 (GRCm39) Q1161* probably null Het
Snrnp200 T C 2: 127,073,697 (GRCm39) L1365P probably damaging Het
Srcap T C 7: 127,138,237 (GRCm39) S1136P probably damaging Het
Trim80 A G 11: 115,338,849 (GRCm39) T560A possibly damaging Het
Ttll2 T C 17: 7,620,098 (GRCm39) probably null Het
Usp8 A T 2: 126,600,075 (GRCm39) Q998L probably damaging Het
Vpreb3 C T 10: 75,779,056 (GRCm39) probably benign Het
Zfp82 G A 7: 29,755,864 (GRCm39) T406I probably damaging Het
Other mutations in Mmrn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01523:Mmrn2 APN 14 34,125,174 (GRCm39) missense probably damaging 1.00
IGL02529:Mmrn2 APN 14 34,120,570 (GRCm39) missense possibly damaging 0.74
IGL02590:Mmrn2 APN 14 34,121,224 (GRCm39) nonsense probably null
P0037:Mmrn2 UTSW 14 34,125,022 (GRCm39) missense probably damaging 1.00
R0323:Mmrn2 UTSW 14 34,119,991 (GRCm39) missense probably damaging 0.97
R0499:Mmrn2 UTSW 14 34,119,913 (GRCm39) missense probably damaging 1.00
R1073:Mmrn2 UTSW 14 34,118,251 (GRCm39) critical splice donor site probably null
R1422:Mmrn2 UTSW 14 34,118,196 (GRCm39) missense probably damaging 1.00
R1455:Mmrn2 UTSW 14 34,121,089 (GRCm39) missense probably benign 0.00
R1584:Mmrn2 UTSW 14 34,097,642 (GRCm39) missense probably benign 0.19
R1702:Mmrn2 UTSW 14 34,119,871 (GRCm39) missense probably benign 0.34
R1919:Mmrn2 UTSW 14 34,119,600 (GRCm39) missense probably benign 0.10
R1961:Mmrn2 UTSW 14 34,120,432 (GRCm39) splice site probably null
R2267:Mmrn2 UTSW 14 34,121,449 (GRCm39) missense probably benign 0.41
R2268:Mmrn2 UTSW 14 34,121,449 (GRCm39) missense probably benign 0.41
R2516:Mmrn2 UTSW 14 34,120,759 (GRCm39) missense probably benign 0.12
R2571:Mmrn2 UTSW 14 34,124,896 (GRCm39) missense probably damaging 0.99
R2696:Mmrn2 UTSW 14 34,120,372 (GRCm39) missense probably damaging 1.00
R2919:Mmrn2 UTSW 14 34,124,879 (GRCm39) missense possibly damaging 0.72
R3611:Mmrn2 UTSW 14 34,120,632 (GRCm39) missense probably benign 0.00
R3898:Mmrn2 UTSW 14 34,121,517 (GRCm39) splice site probably null
R3899:Mmrn2 UTSW 14 34,121,517 (GRCm39) splice site probably null
R3900:Mmrn2 UTSW 14 34,121,517 (GRCm39) splice site probably null
R4363:Mmrn2 UTSW 14 34,119,934 (GRCm39) missense probably damaging 0.99
R4392:Mmrn2 UTSW 14 34,119,573 (GRCm39) missense probably damaging 1.00
R4510:Mmrn2 UTSW 14 34,125,016 (GRCm39) missense possibly damaging 0.67
R4511:Mmrn2 UTSW 14 34,125,016 (GRCm39) missense possibly damaging 0.67
R4993:Mmrn2 UTSW 14 34,118,355 (GRCm39) missense probably damaging 1.00
R5026:Mmrn2 UTSW 14 34,121,158 (GRCm39) missense probably benign 0.07
R5263:Mmrn2 UTSW 14 34,121,541 (GRCm39) missense probably benign
R5478:Mmrn2 UTSW 14 34,118,539 (GRCm39) missense probably benign 0.11
R5606:Mmrn2 UTSW 14 34,119,581 (GRCm39) missense probably damaging 1.00
R6059:Mmrn2 UTSW 14 34,119,548 (GRCm39) nonsense probably null
R6279:Mmrn2 UTSW 14 34,119,614 (GRCm39) missense probably benign
R6300:Mmrn2 UTSW 14 34,119,614 (GRCm39) missense probably benign
R6938:Mmrn2 UTSW 14 34,120,671 (GRCm39) missense probably benign 0.22
R7491:Mmrn2 UTSW 14 34,121,374 (GRCm39) missense probably damaging 1.00
R7607:Mmrn2 UTSW 14 34,120,897 (GRCm39) missense possibly damaging 0.58
R7979:Mmrn2 UTSW 14 34,118,138 (GRCm39) nonsense probably null
R7999:Mmrn2 UTSW 14 34,119,879 (GRCm39) missense probably benign 0.30
R8113:Mmrn2 UTSW 14 34,119,593 (GRCm39) missense probably benign 0.39
R9063:Mmrn2 UTSW 14 34,120,567 (GRCm39) missense probably benign 0.04
R9092:Mmrn2 UTSW 14 34,118,587 (GRCm39) missense probably benign 0.00
R9180:Mmrn2 UTSW 14 34,121,158 (GRCm39) missense probably benign 0.07
R9327:Mmrn2 UTSW 14 34,097,473 (GRCm39) unclassified probably benign
R9476:Mmrn2 UTSW 14 34,120,407 (GRCm39) missense possibly damaging 0.94
R9510:Mmrn2 UTSW 14 34,120,407 (GRCm39) missense possibly damaging 0.94
R9606:Mmrn2 UTSW 14 34,119,654 (GRCm39) missense possibly damaging 0.58
X0064:Mmrn2 UTSW 14 34,121,109 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGACTGCCAGGACCACAGTAAG -3'
(R):5'- AAGTGGCAAAGTCAGCTCTC -3'

Sequencing Primer
(F):5'- GTAAGGCTCCCCAAAGCTTC -3'
(R):5'- GTCAGCTCTCCAAGAAAAATGGGATC -3'
Posted On 2015-01-23