Incidental Mutation 'R4510:Mmrn2'
ID 470184
Institutional Source Beutler Lab
Gene Symbol Mmrn2
Ensembl Gene ENSMUSG00000041445
Gene Name multimerin 2
Synonyms ENDOGLYX1, EndoGlyx-1, Emilin3
MMRRC Submission 041585-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R4510 (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 C at 34125016 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 866 (F866L)
Ref Sequence ENSEMBL: ENSMUSP00000107539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111908]
AlphaFold A6H6E2
Predicted Effect possibly damaging
Transcript: ENSMUST00000111908
AA Change: F866L

PolyPhen 2 Score 0.667 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: F866L

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 96% (50/52)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,100,819 (GRCm39) D397E probably benign Het
Abcc10 A G 17: 46,618,136 (GRCm39) F1005L probably damaging Het
Ackr4 T C 9: 103,975,930 (GRCm39) E339G probably benign Het
Adam39 G T 8: 41,279,328 (GRCm39) C573F probably damaging Het
Anks1b A G 10: 90,346,652 (GRCm39) T651A probably benign Het
Aoc1 C A 6: 48,884,740 (GRCm39) H594Q probably damaging Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
Atp4a G T 7: 30,423,678 (GRCm39) E928* probably null Het
Atp5pf T C 16: 84,624,862 (GRCm39) D104G probably benign Het
Atp8b5 A G 4: 43,320,629 (GRCm39) T206A probably damaging Het
Atrn G A 2: 130,777,497 (GRCm39) W182* probably null Het
Bltp2 T C 11: 78,168,154 (GRCm39) S1530P possibly damaging Het
Cacna1e G A 1: 154,437,579 (GRCm39) T257I probably damaging Het
Caskin1 G A 17: 24,725,602 (GRCm39) S1296N probably benign Het
Crebrf A G 17: 26,961,938 (GRCm39) Y345C probably benign Het
Cyp26b1 G A 6: 84,551,473 (GRCm39) R248W probably damaging Het
Dclk3 C A 9: 111,297,060 (GRCm39) H201Q probably benign Het
Ddx17 A T 15: 79,422,793 (GRCm39) V315E probably damaging Het
Dhrs11 T C 11: 84,716,342 (GRCm39) *51W probably null Het
Fgfr4 C A 13: 55,309,328 (GRCm39) P455Q possibly damaging Het
Gabbr1 A G 17: 37,380,103 (GRCm39) K697E probably damaging Het
Gcnt1 G A 19: 17,307,641 (GRCm39) T28I probably benign Het
Gga2 G A 7: 121,620,301 (GRCm39) T4M unknown Het
Gm12185 T A 11: 48,799,305 (GRCm39) H396L possibly damaging Het
Gm21976 A G 13: 98,441,839 (GRCm39) R123G probably benign Het
Hecw1 A C 13: 14,531,776 (GRCm39) V166G probably damaging Het
Hpx A G 7: 105,241,295 (GRCm39) V372A possibly damaging Het
Igkv2-109 A G 6: 68,279,962 (GRCm39) Y61C probably damaging Het
Igsf1 A G X: 48,875,050 (GRCm39) F789S probably damaging Het
Il4ra A G 7: 125,175,280 (GRCm39) D496G possibly damaging Het
Ilf3 A G 9: 21,310,511 (GRCm39) T547A possibly damaging Het
Insrr C A 3: 87,715,978 (GRCm39) P558T possibly damaging Het
Ints9 A G 14: 65,266,381 (GRCm39) D411G possibly damaging Het
Irak3 T A 10: 119,981,813 (GRCm39) H393L probably damaging Het
Isx G A 8: 75,600,298 (GRCm39) M10I probably benign Het
Itga11 A G 9: 62,668,870 (GRCm39) D709G probably damaging Het
Kcng2 G T 18: 80,338,930 (GRCm39) R453S probably benign Het
Kif5b A G 18: 6,214,011 (GRCm39) V664A probably benign Het
Lalba A G 15: 98,380,422 (GRCm39) L44P probably benign Het
Ldlrad1 T G 4: 107,066,715 (GRCm39) F17V probably benign Het
Lnx1 C T 5: 74,780,853 (GRCm39) D382N probably damaging Het
Lrp1 T C 10: 127,429,717 (GRCm39) Y451C probably damaging Het
Lrp2 A T 2: 69,310,406 (GRCm39) N2722K possibly damaging Het
Mctp1 G A 13: 76,973,391 (GRCm39) V431I probably benign Het
Mylk2 A G 2: 152,759,330 (GRCm39) E367G probably damaging Het
Nfatc1 A G 18: 80,678,794 (GRCm39) S865P probably damaging Het
Nol6 G C 4: 41,123,526 (GRCm39) T74R probably damaging Het
Notch2 T C 3: 98,053,637 (GRCm39) M2100T probably benign Het
Parp1 A G 1: 180,418,841 (GRCm39) K667R possibly damaging Het
Phlda3 A G 1: 135,694,400 (GRCm39) T72A probably damaging Het
Polg T C 7: 79,105,270 (GRCm39) Q758R probably benign Het
Polq G A 16: 36,868,925 (GRCm39) R765H probably damaging Het
Pramel19 A T 4: 101,798,757 (GRCm39) M243L probably benign Het
Prkd1 T C 12: 50,439,762 (GRCm39) D355G possibly damaging Het
Prpf8 T C 11: 75,382,652 (GRCm39) Y398H probably damaging Het
Ripk1 T C 13: 34,210,731 (GRCm39) Y309H probably damaging Het
Rngtt A T 4: 33,339,032 (GRCm39) Q279L possibly damaging Het
Rusf1 A T 7: 127,875,312 (GRCm39) F319Y probably damaging Het
Samd4 T A 14: 47,315,042 (GRCm39) V114D probably benign Het
Sec23ip G A 7: 128,380,900 (GRCm39) E956K probably damaging Het
Slc4a1ap A T 5: 31,684,747 (GRCm39) T128S probably benign Het
Slc5a11 A T 7: 122,834,858 (GRCm39) I6F probably benign Het
Slc6a19 A C 13: 73,832,094 (GRCm39) L494R probably damaging Het
Slc6a21 A G 7: 44,936,713 (GRCm39) D189G probably damaging Het
Slc7a1 G T 5: 148,277,372 (GRCm39) A381D probably damaging Het
Smc4 T A 3: 68,923,980 (GRCm39) probably null Het
Stk19 T C 17: 35,051,504 (GRCm39) E17G probably damaging Het
Tekt5 A C 16: 10,175,877 (GRCm39) V556G probably benign Het
Tenm4 T C 7: 96,544,070 (GRCm39) F2029L probably benign Het
Thnsl1 T C 2: 21,217,236 (GRCm39) V330A probably damaging Het
Tnfrsf21 A G 17: 43,375,910 (GRCm39) D432G probably damaging Het
Tnip1 T A 11: 54,817,616 (GRCm39) S244C probably benign Het
Tnrc6c A T 11: 117,633,784 (GRCm39) N1294I possibly damaging Het
Trpm3 A G 19: 22,965,381 (GRCm39) I1625M probably benign Het
Ttn A T 2: 76,575,773 (GRCm39) V25040E probably damaging Het
Vwa5a A G 9: 38,633,853 (GRCm39) N19D possibly damaging Het
Washc2 A T 6: 116,197,517 (GRCm39) D250V probably damaging Het
Xpo1 A G 11: 23,237,401 (GRCm39) T755A possibly damaging Het
Zfp462 C T 4: 55,008,934 (GRCm39) T300I possibly damaging Het
Zfp937 A C 2: 150,080,431 (GRCm39) T154P probably damaging Het
Zzef1 A G 11: 72,778,996 (GRCm39) D1819G probably benign 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
R2892:Mmrn2 UTSW 14 34,118,587 (GRCm39) missense probably benign 0.01
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
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
Posted On 2017-03-07