Incidental Mutation 'R9092:Mmrn2'
ID 691088
Institutional Source Beutler Lab
Gene Symbol Mmrn2
Ensembl Gene ENSMUSG00000041445
Gene Name multimerin 2
Synonyms ENDOGLYX1, EndoGlyx-1, Emilin3
MMRRC Submission 068908-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R9092 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 34097461-34126244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34118587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 158 (F158L)
Ref Sequence ENSEMBL: ENSMUSP00000107539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111908]
AlphaFold A6H6E2
Predicted Effect probably benign
Transcript: ENSMUST00000111908
AA Change: F158L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: F158L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 93% (56/60)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chl1 T C 6: 103,645,815 (GRCm39) probably benign Het
Crtc3 T C 7: 80,239,628 (GRCm39) M575V probably benign Het
Cux1 T A 5: 136,514,671 (GRCm39) N22I probably damaging Het
Dcun1d2 G A 8: 13,307,935 (GRCm39) R248W probably damaging Het
Dlc1 G T 8: 37,199,860 (GRCm39) H7Q probably benign Het
Drd2 A G 9: 49,307,004 (GRCm39) D30G probably benign Het
Duxf3 GCCC GCC 10: 58,066,944 (GRCm39) probably null Het
E2f7 T C 10: 110,616,874 (GRCm39) S705P probably benign Het
Ephb3 G A 16: 21,041,214 (GRCm39) S977N probably benign Het
F13a1 T G 13: 37,089,993 (GRCm39) D448A probably benign Het
Fam216b T C 14: 78,322,537 (GRCm39) T56A possibly damaging Het
Fcho2 T C 13: 98,886,391 (GRCm39) T408A probably benign Het
Flvcr1 A T 1: 190,740,364 (GRCm39) V552E Het
Gab3 CTT CTTGTT X: 74,043,612 (GRCm39) probably benign Het
Gab3 TCT TCTGCT X: 74,043,602 (GRCm39) probably benign Het
Galnt15 A G 14: 31,780,196 (GRCm39) K622E probably benign Het
Gjb3 GCCAGATGCGCCCA GCCAGATGCGCCCAGATGCGCCCA 4: 127,220,458 (GRCm39) probably null Het
Gjb3 A AGATGCGCCCG 4: 127,220,471 (GRCm39) probably null Het
Gm5414 T G 15: 101,536,345 (GRCm39) R93S probably benign Het
Gtf2i A G 5: 134,318,241 (GRCm39) *87Q probably null Het
Il7r T A 15: 9,510,270 (GRCm39) H261L probably benign Het
Itsn1 T A 16: 91,609,002 (GRCm39) M250K possibly damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Liat1 A G 11: 75,893,887 (GRCm39) D88G possibly damaging Het
Lrrc47 C A 4: 154,096,421 (GRCm39) T72K possibly damaging Het
Map2k4 C A 11: 65,581,599 (GRCm39) R371L probably benign Het
Mtus1 A T 8: 41,455,475 (GRCm39) L242Q probably damaging Het
Myo5a T C 9: 75,054,414 (GRCm39) probably null Het
Noc3l T A 19: 38,798,487 (GRCm39) K305I probably damaging Het
Or4p8 T C 2: 88,727,321 (GRCm39) T207A probably damaging Het
Pag1 T C 3: 9,764,848 (GRCm39) T102A probably benign Het
Pam A G 1: 97,791,976 (GRCm39) S482P probably benign Het
Pax1 T G 2: 147,204,287 (GRCm39) W23G unknown Het
Pcdhgb1 T A 18: 37,813,989 (GRCm39) V160D possibly damaging Het
Pdzph1 T C 17: 59,280,125 (GRCm39) D719G probably damaging Het
Phlda1 T C 10: 111,342,474 (GRCm39) L70S possibly damaging Het
Pikfyve G A 1: 65,283,559 (GRCm39) R732K probably damaging Het
Pkd1 G T 17: 24,788,347 (GRCm39) V702F possibly damaging Het
Pkhd1 A G 1: 20,632,586 (GRCm39) Y610H probably benign Het
Pofut1 T G 2: 153,101,508 (GRCm39) H87Q probably benign Het
Runx2 C A 17: 45,046,443 (GRCm39) D109Y probably damaging Het
Serpina1b T A 12: 103,696,540 (GRCm39) I290F probably benign Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Sh3tc1 T C 5: 35,874,321 (GRCm39) N198S probably benign Het
Slc27a6 C A 18: 58,742,330 (GRCm39) R515S probably benign Het
Sorbs3 C T 14: 70,445,004 (GRCm39) V25I probably benign Het
Speg A G 1: 75,399,378 (GRCm39) E2275G probably benign Het
Tmem161b C T 13: 84,440,503 (GRCm39) T307I possibly damaging Het
Tmem30a T C 9: 79,678,581 (GRCm39) D361G probably damaging Het
Tmprss11c T C 5: 86,385,495 (GRCm39) T326A probably benign Het
Tpbg T C 9: 85,726,916 (GRCm39) V295A possibly damaging Het
Ulk4 A T 9: 120,903,003 (GRCm39) I1158N Het
Utp20 C A 10: 88,604,679 (GRCm39) A1739S probably benign Het
Utp20 T C 10: 88,611,180 (GRCm39) N1379S probably damaging Het
Vmn1r66 T A 7: 10,008,110 (GRCm39) I308F possibly damaging Het
Vmn2r101 A T 17: 19,809,807 (GRCm39) T198S probably benign Het
Vps16 T C 2: 130,281,593 (GRCm39) I318T probably damaging Het
Wdr11 T A 7: 129,226,451 (GRCm39) W750R probably damaging Het
Zfp608 A G 18: 55,031,648 (GRCm39) I764T probably benign Het
Zfp708 C A 13: 67,218,564 (GRCm39) D420Y 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
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
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
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'- ACTGCCAGGACCACAGTAAG -3'
(R):5'- GCAAAGTGGCAAAGTCAGCTC -3'

Sequencing Primer
(F):5'- GTAAGGCTCCCCAAAGCTTC -3'
(R):5'- GTGGCAAAGTCAGCTCTCCAAG -3'
Posted On 2021-12-30