Incidental Mutation 'R1584:Mmrn2'
ID 177376
Institutional Source Beutler Lab
Gene Symbol Mmrn2
Ensembl Gene ENSMUSG00000041445
Gene Name multimerin 2
Synonyms ENDOGLYX1, EndoGlyx-1, Emilin3
MMRRC Submission 039621-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R1584 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 34097461-34126244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34097642 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 24 (D24G)
Ref Sequence ENSEMBL: ENSMUSP00000107539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023826] [ENSMUST00000111908]
AlphaFold A6H6E2
Predicted Effect probably benign
Transcript: ENSMUST00000023826
SMART Domains Protein: ENSMUSP00000023826
Gene: ENSMUSG00000023064

DomainStartEndE-ValueType
Pfam:Synuclein 1 123 6.6e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111908
AA Change: D24G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000107539
Gene: ENSMUSG00000041445
AA Change: D24G

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 probably benign
Transcript: ENSMUST00000227130
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.2%
Validation Efficiency 99% (106/107)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 C T 11: 77,406,236 (GRCm39) A71V probably damaging Het
Ager A G 17: 34,819,692 (GRCm39) E357G probably damaging Het
Akap13 T C 7: 75,378,797 (GRCm39) S2095P possibly damaging Het
Ampd2 T C 3: 107,987,653 (GRCm39) probably null Het
Arrdc1 T C 2: 24,815,807 (GRCm39) I398V probably benign Het
Ash1l T C 3: 88,959,372 (GRCm39) Y2250H probably damaging Het
Brca2 G A 5: 150,475,723 (GRCm39) A2478T probably damaging Het
Btrc T A 19: 45,501,821 (GRCm39) probably benign Het
C8g C T 2: 25,390,228 (GRCm39) A6T probably benign Het
Ccdc121rt3 C T 5: 112,502,630 (GRCm39) G358D probably benign Het
Cdc123 T A 2: 5,808,788 (GRCm39) probably null Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Cldn5 G A 16: 18,596,227 (GRCm39) G161D probably damaging Het
Cndp2 G A 18: 84,695,440 (GRCm39) probably benign Het
Cntnap1 C A 11: 101,071,186 (GRCm39) F366L probably damaging Het
Corin C T 5: 72,460,133 (GRCm39) probably null Het
Ctdspl2 G A 2: 121,834,410 (GRCm39) R332K probably benign Het
Dido1 G A 2: 180,304,121 (GRCm39) P1261L probably damaging Het
Dop1a A T 9: 86,430,225 (GRCm39) R2200* probably null Het
Dtx3l G A 16: 35,753,098 (GRCm39) L503F probably damaging Het
Dysf A G 6: 84,044,029 (GRCm39) K259R probably benign Het
Enpep T A 3: 129,113,097 (GRCm39) T203S probably damaging Het
Epha2 T A 4: 141,049,358 (GRCm39) probably null Het
Fam20b T C 1: 156,513,758 (GRCm39) probably benign Het
Fbln7 A G 2: 128,719,349 (GRCm39) T49A probably benign Het
Fgf14 T A 14: 124,913,951 (GRCm39) K60M probably benign Het
Fhad1 T C 4: 141,712,822 (GRCm39) I206V probably benign Het
Figla A G 6: 85,997,764 (GRCm39) E164G probably benign Het
Gimap4 C A 6: 48,668,216 (GRCm39) Q196K probably benign Het
Glcci1 C T 6: 8,537,964 (GRCm39) T6I probably damaging Het
Grk4 T C 5: 34,852,094 (GRCm39) S113P probably benign Het
Hectd3 G A 4: 116,853,763 (GRCm39) E220K probably damaging Het
Hecw1 A G 13: 14,515,328 (GRCm39) probably null Het
Helz2 G A 2: 180,878,090 (GRCm39) P903S probably damaging Het
Hydin T C 8: 111,307,447 (GRCm39) V3942A probably benign Het
Irs1 G T 1: 82,267,165 (GRCm39) H350Q probably benign Het
Kdm1b G A 13: 47,217,530 (GRCm39) E46K probably damaging Het
Klf11 A G 12: 24,705,304 (GRCm39) N253D probably damaging Het
Klhl23 T C 2: 69,664,232 (GRCm39) I527T probably damaging Het
Lars1 G A 18: 42,343,115 (GRCm39) R1101C probably damaging Het
Lcn4 G A 2: 26,558,588 (GRCm39) P166L probably damaging Het
Letmd1 T A 15: 100,370,423 (GRCm39) probably null Het
Lilra6 T A 7: 3,915,661 (GRCm39) D358V probably damaging Het
Mroh2b G T 15: 4,955,166 (GRCm39) D720Y probably damaging Het
Mrps35 C T 6: 146,957,482 (GRCm39) T169M probably damaging Het
Muc4 G A 16: 32,574,886 (GRCm39) G1157D probably benign Het
Naga T A 15: 82,218,989 (GRCm39) M237L probably null Het
Nfu1 G A 6: 86,997,791 (GRCm39) E225K probably damaging Het
Nin A T 12: 70,089,443 (GRCm39) L1324Q probably benign Het
Oc90 T A 15: 65,769,569 (GRCm39) Y96F probably damaging Het
Or4a80 C T 2: 89,582,611 (GRCm39) C187Y probably damaging Het
Or5b116 T C 19: 13,423,023 (GRCm39) Y216H probably damaging Het
Or5m11b T A 2: 85,806,339 (GRCm39) F251I probably damaging Het
Or6ae1 A G 7: 139,742,116 (GRCm39) V249A probably damaging Het
Or8c9 G A 9: 38,241,427 (GRCm39) M181I possibly damaging Het
Orc4 A T 2: 48,799,506 (GRCm39) C324S possibly damaging Het
Pals1 A G 12: 78,876,501 (GRCm39) I482V probably benign Het
Pdzrn4 T C 15: 92,668,418 (GRCm39) S857P probably benign Het
Plec C T 15: 76,070,108 (GRCm39) E1000K possibly damaging Het
Plvap A T 8: 71,961,125 (GRCm39) V149D probably benign Het
Pm20d2 A T 4: 33,174,772 (GRCm39) N371K probably damaging Het
Ppp2r5d A G 17: 46,995,610 (GRCm39) Y480H probably benign Het
Prkd1 A T 12: 50,472,298 (GRCm39) V205E probably damaging Het
R3hdm2 A G 10: 127,312,559 (GRCm39) I434V probably benign Het
Rel T A 11: 23,695,546 (GRCm39) T246S probably damaging Het
Rnf215 T A 11: 4,086,719 (GRCm39) V172E probably damaging Het
Scara3 T C 14: 66,158,553 (GRCm39) D485G probably damaging Het
Sec16a A T 2: 26,321,169 (GRCm39) Y1308N probably damaging Het
Sis A T 3: 72,839,393 (GRCm39) D824E possibly damaging Het
Slc27a4 T A 2: 29,701,202 (GRCm39) V331E probably damaging Het
Srebf1 C T 11: 60,091,528 (GRCm39) R999H probably benign Het
St3gal3 A C 4: 117,964,859 (GRCm39) M1R probably null Het
Tapbp C T 17: 34,138,914 (GRCm39) probably null Het
Tep1 A T 14: 51,103,494 (GRCm39) N265K probably damaging Het
Thoc2l T A 5: 104,666,123 (GRCm39) I215N probably damaging Het
Tln2 T A 9: 67,203,696 (GRCm39) N470I probably damaging Het
Trim43a G T 9: 88,470,211 (GRCm39) W339L probably damaging Het
Ttc22 T C 4: 106,479,977 (GRCm39) F77S probably damaging Het
Ttc8 A G 12: 98,887,023 (GRCm39) E32G probably benign Het
Uhmk1 A T 1: 170,036,222 (GRCm39) probably null Het
Usp17lc A G 7: 103,068,148 (GRCm39) H481R possibly damaging Het
Vamp8 G A 6: 72,362,617 (GRCm39) T35M probably damaging Het
Vill A G 9: 118,894,654 (GRCm39) Y53C probably damaging Het
Vmn1r222 A T 13: 23,416,932 (GRCm39) S94T probably damaging Het
Vmn2r93 A G 17: 18,525,413 (GRCm39) Y357C possibly damaging Het
Vps13c T A 9: 67,800,394 (GRCm39) V536D possibly damaging Het
Vrtn G A 12: 84,696,855 (GRCm39) C535Y probably damaging Het
Vwa3a A G 7: 120,367,388 (GRCm39) Y181C probably damaging Het
Wfikkn2 G A 11: 94,129,721 (GRCm39) T140I probably damaging Het
Ykt6 T A 11: 5,912,349 (GRCm39) F101I probably damaging Het
Zfp277 C T 12: 40,428,825 (GRCm39) G174D probably benign Het
Zfp638 A G 6: 83,955,047 (GRCm39) probably null Het
Zzef1 C T 11: 72,815,505 (GRCm39) P2942S 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
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
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'- CCAAATCCCGTGTCCCTGATTCAAG -3'
(R):5'- CCAAAGCCCCTGCTATAGGTCAAG -3'

Sequencing Primer
(F):5'- TGATTCAAGTGCCCTCAGGAC -3'
(R):5'- GCATCCCTTAGCTATAGAGATAGCC -3'
Posted On 2014-04-24