Incidental Mutation 'R7084:Mme'
ID 549730
Institutional Source Beutler Lab
Gene Symbol Mme
Ensembl Gene ENSMUSG00000027820
Gene Name membrane metallo endopeptidase
Synonyms neprilysin, 6030454K05Rik, neutral endopeptidase, NEP, CD10
MMRRC Submission 045178-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7084 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 63202632-63291134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63235638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 195 (Y195H)
Ref Sequence ENSEMBL: ENSMUSP00000029400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029400] [ENSMUST00000191633] [ENSMUST00000192002] [ENSMUST00000194134] [ENSMUST00000194150] [ENSMUST00000194324] [ENSMUST00000194836]
AlphaFold Q61391
Predicted Effect probably damaging
Transcript: ENSMUST00000029400
AA Change: Y195H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029400
Gene: ENSMUSG00000027820
AA Change: Y195H

DomainStartEndE-ValueType
PDB:2YVC|F 2 23 5e-7 PDB
transmembrane domain 29 51 N/A INTRINSIC
Pfam:Peptidase_M13_N 80 483 8.7e-103 PFAM
low complexity region 489 507 N/A INTRINSIC
low complexity region 515 526 N/A INTRINSIC
Pfam:Peptidase_M13 543 749 5.8e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191633
SMART Domains Protein: ENSMUSP00000141469
Gene: ENSMUSG00000027820

DomainStartEndE-ValueType
Pfam:Peptidase_M13_N 14 130 3.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192002
SMART Domains Protein: ENSMUSP00000141483
Gene: ENSMUSG00000027820

DomainStartEndE-ValueType
PDB:2YVC|F 2 23 1e-7 PDB
transmembrane domain 29 51 N/A INTRINSIC
Pfam:Peptidase_M13_N 80 178 1.9e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000194134
AA Change: Y195H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142205
Gene: ENSMUSG00000027820
AA Change: Y195H

DomainStartEndE-ValueType
PDB:2YVC|F 2 23 5e-7 PDB
transmembrane domain 29 51 N/A INTRINSIC
Pfam:Peptidase_M13_N 80 483 8.4e-134 PFAM
low complexity region 489 507 N/A INTRINSIC
low complexity region 515 526 N/A INTRINSIC
Pfam:Peptidase_M13 543 749 3.3e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000194150
AA Change: Y195H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141544
Gene: ENSMUSG00000027820
AA Change: Y195H

DomainStartEndE-ValueType
PDB:2YVC|F 2 23 5e-7 PDB
transmembrane domain 29 51 N/A INTRINSIC
Pfam:Peptidase_M13_N 80 483 8.4e-134 PFAM
low complexity region 489 507 N/A INTRINSIC
low complexity region 515 526 N/A INTRINSIC
Pfam:Peptidase_M13 543 749 3.3e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194324
SMART Domains Protein: ENSMUSP00000142259
Gene: ENSMUSG00000027820

DomainStartEndE-ValueType
PDB:2YVC|F 2 23 5e-8 PDB
transmembrane domain 29 51 N/A INTRINSIC
Pfam:Peptidase_M13_N 80 131 2.3e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194836
SMART Domains Protein: ENSMUSP00000141452
Gene: ENSMUSG00000027820

DomainStartEndE-ValueType
PDB:2YVC|F 2 23 1e-7 PDB
transmembrane domain 29 51 N/A INTRINSIC
Pfam:Peptidase_M13_N 80 187 5.6e-33 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (81/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). This protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. It is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. This gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb. The 5' untranslated region of this gene is alternatively spliced, resulting in four separate mRNA transcripts. The coding region is not affected by alternative splicing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced allergic contact dermatitis responses, diffuse hepatic necrosis after LPS shock or treatment with a combination of TNF and interleukin-1 beta, and increased brain and plasma amyloid beta peptide levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A T 13: 119,624,721 (GRCm39) D8E unknown Het
Abca5 T A 11: 110,192,371 (GRCm39) I714L probably benign Het
Abce1 T A 8: 80,426,043 (GRCm39) S245C probably benign Het
Abcg1 T A 17: 31,325,105 (GRCm39) D310E probably benign Het
Adhfe1 T A 1: 9,637,030 (GRCm39) I394N probably benign Het
Apob A T 12: 8,059,591 (GRCm39) D2691V probably benign Het
Arhgap18 A G 10: 26,748,734 (GRCm39) T340A possibly damaging Het
Arsb A T 13: 94,077,124 (GRCm39) Q497L probably benign Het
Asic5 T C 3: 81,919,318 (GRCm39) I354T probably benign Het
Atp6v0a1 T C 11: 100,924,868 (GRCm39) C318R probably damaging Het
Cftr T C 6: 18,226,137 (GRCm39) Y362H probably benign Het
Crip3 T C 17: 46,741,716 (GRCm39) Y113H probably benign Het
Dcaf4 AT A 12: 83,584,571 (GRCm39) probably null Het
Dock10 T A 1: 80,481,573 (GRCm39) I475F Het
Dqx1 T A 6: 83,043,436 (GRCm39) Y674N probably damaging Het
Dync2h1 G T 9: 7,113,214 (GRCm39) Q2437K possibly damaging Het
Ednra A T 8: 78,391,734 (GRCm39) C385* probably null Het
Fam216a G A 5: 122,507,623 (GRCm39) T68I probably benign Het
Fbxw22 A G 9: 109,233,291 (GRCm39) L14P probably damaging Het
Fem1al G T 11: 29,775,009 (GRCm39) H149Q probably damaging Het
Fkbp10 A G 11: 100,312,129 (GRCm39) I230V possibly damaging Het
Ggn C A 7: 28,872,423 (GRCm39) A637E probably damaging Het
Hcrtr2 T C 9: 76,137,942 (GRCm39) D391G probably benign Het
Heatr5b A T 17: 79,117,992 (GRCm39) V817D possibly damaging Het
Il1f10 G A 2: 24,183,682 (GRCm39) W120* probably null Het
Irf5 C A 6: 29,535,876 (GRCm39) R297S probably damaging Het
Jak2 A G 19: 29,263,798 (GRCm39) T438A possibly damaging Het
Jsrp1 T C 10: 80,644,410 (GRCm39) D332G possibly damaging Het
Kank4 A T 4: 98,659,582 (GRCm39) V832D probably damaging Het
Kcnip3 C T 2: 127,352,856 (GRCm39) S25N probably benign Het
Klk1b16 C T 7: 43,788,910 (GRCm39) H48Y probably benign Het
Klrh1 C A 6: 129,743,673 (GRCm39) A204S possibly damaging Het
Krtap5-4 G A 7: 141,857,609 (GRCm39) C93Y unknown Het
Lacc1 T A 14: 77,267,096 (GRCm39) Q389L probably benign Het
Lin9 C A 1: 180,515,661 (GRCm39) T477K probably benign Het
Lpar2 A T 8: 70,276,256 (GRCm39) N15I probably damaging Het
Ltbp2 C A 12: 84,915,459 (GRCm39) C200F probably damaging Het
Mall G T 2: 127,550,793 (GRCm39) H122Q probably benign Het
Mast3 T C 8: 71,232,117 (GRCm39) I1287V probably benign Het
Mindy4 T C 6: 55,255,220 (GRCm39) I566T probably benign Het
Mpzl1 T C 1: 165,432,267 (GRCm39) T173A probably benign Het
Mri1 G T 8: 84,977,708 (GRCm39) T209N Het
Myo1e A G 9: 70,245,083 (GRCm39) I394V probably damaging Het
Nat14 T C 7: 4,927,329 (GRCm39) V167A possibly damaging Het
Nfasc A G 1: 132,498,247 (GRCm39) Y1212H unknown Het
Nsun7 T A 5: 66,452,764 (GRCm39) L493Q probably damaging Het
Obsl1 A T 1: 75,464,394 (GRCm39) S1637R probably benign Het
Ocstamp A T 2: 165,239,957 (GRCm39) Y76* probably null Het
Or5b95 A C 19: 12,658,198 (GRCm39) H242P probably damaging Het
Or6c2b T A 10: 128,947,416 (GRCm39) K293* probably null Het
Or8b52 G A 9: 38,576,565 (GRCm39) R192C probably benign Het
Otog T A 7: 45,947,990 (GRCm39) C145* probably null Het
Padi6 T A 4: 140,468,869 (GRCm39) K5* probably null Het
Pcdha5 T A 18: 37,094,615 (GRCm39) S375T probably benign Het
Pde10a C T 17: 9,159,994 (GRCm39) P140S probably benign Het
Pgbd1 C G 13: 21,607,300 (GRCm39) C298S possibly damaging Het
Plch2 C T 4: 155,071,448 (GRCm39) G977D probably benign Het
Pou2f3 T C 9: 43,040,188 (GRCm39) T367A probably damaging Het
Ppm1j T A 3: 104,692,276 (GRCm39) Y352N probably damaging Het
Prkag2 T C 5: 25,226,967 (GRCm39) T97A probably benign Het
Rpl36a-ps1 T A 14: 99,231,660 (GRCm39) Y26F probably benign Het
Sctr A T 1: 119,991,001 (GRCm39) N445Y possibly damaging Het
Serping1 C T 2: 84,603,835 (GRCm39) V69I probably benign Het
Slc8a2 T A 7: 15,878,963 (GRCm39) L483Q probably benign Het
Spag17 T C 3: 99,846,586 (GRCm39) F37L probably benign Het
Srrm2 T A 17: 24,039,290 (GRCm39) M1978K probably damaging Het
Tcp11 T C 17: 28,285,995 (GRCm39) Q540R probably benign Het
Thnsl1 G T 2: 21,217,141 (GRCm39) R298S possibly damaging Het
Tigd5 T A 15: 75,782,230 (GRCm39) Y197* probably null Het
Tmprss11g A T 5: 86,640,059 (GRCm39) L203Q probably damaging Het
Trim35 T A 14: 66,546,271 (GRCm39) V346E probably damaging Het
Ttn T C 2: 76,598,708 (GRCm39) I19402V possibly damaging Het
Ttn C T 2: 76,749,689 (GRCm39) E3787K probably benign Het
Tut1 G A 19: 8,942,778 (GRCm39) V622I probably benign Het
Vmn1r2 A G 4: 3,172,134 (GRCm39) I18V probably benign Het
Zbbx T C 3: 75,046,853 (GRCm39) N22S possibly damaging Het
Zfp169 A C 13: 48,652,339 (GRCm39) M26R probably benign Het
Zfp180 T A 7: 23,804,686 (GRCm39) H368Q probably damaging Het
Zfp638 T A 6: 83,930,108 (GRCm39) S770T possibly damaging Het
Znrf1 T C 8: 112,263,774 (GRCm39) M1T probably null Het
Other mutations in Mme
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Mme APN 3 63,247,465 (GRCm39) missense possibly damaging 0.95
IGL00329:Mme APN 3 63,287,749 (GRCm39) nonsense probably null
IGL01013:Mme APN 3 63,235,281 (GRCm39) splice site probably null
IGL01316:Mme APN 3 63,247,580 (GRCm39) splice site probably benign
IGL01333:Mme APN 3 63,253,512 (GRCm39) missense probably damaging 1.00
IGL01392:Mme APN 3 63,269,467 (GRCm39) missense probably damaging 1.00
IGL01566:Mme APN 3 63,269,350 (GRCm39) splice site probably benign
IGL01739:Mme APN 3 63,247,534 (GRCm39) missense possibly damaging 0.78
IGL01996:Mme APN 3 63,250,970 (GRCm39) missense probably benign 0.11
IGL02125:Mme APN 3 63,256,070 (GRCm39) missense probably damaging 1.00
IGL02154:Mme APN 3 63,250,976 (GRCm39) missense probably benign
IGL03214:Mme APN 3 63,237,111 (GRCm39) missense possibly damaging 0.72
IGL03291:Mme APN 3 63,253,525 (GRCm39) missense probably benign 0.00
R0498:Mme UTSW 3 63,253,487 (GRCm39) missense probably damaging 1.00
R0595:Mme UTSW 3 63,235,602 (GRCm39) missense probably benign 0.27
R0980:Mme UTSW 3 63,247,550 (GRCm39) missense probably benign
R1210:Mme UTSW 3 63,251,027 (GRCm39) missense probably benign 0.01
R1600:Mme UTSW 3 63,272,479 (GRCm39) missense probably damaging 1.00
R1852:Mme UTSW 3 63,235,467 (GRCm39) missense probably benign 0.00
R1852:Mme UTSW 3 63,235,404 (GRCm39) missense probably benign 0.31
R2037:Mme UTSW 3 63,235,681 (GRCm39) missense probably null 1.00
R2177:Mme UTSW 3 63,208,426 (GRCm39) missense probably benign 0.02
R2200:Mme UTSW 3 63,287,713 (GRCm39) missense possibly damaging 0.87
R2306:Mme UTSW 3 63,207,673 (GRCm39) missense probably benign 0.00
R2847:Mme UTSW 3 63,252,620 (GRCm39) missense possibly damaging 0.91
R3008:Mme UTSW 3 63,266,378 (GRCm39) missense probably damaging 1.00
R3749:Mme UTSW 3 63,250,961 (GRCm39) missense probably damaging 1.00
R3876:Mme UTSW 3 63,269,480 (GRCm39) splice site probably benign
R3961:Mme UTSW 3 63,252,613 (GRCm39) missense probably damaging 1.00
R3981:Mme UTSW 3 63,235,485 (GRCm39) missense probably damaging 1.00
R3982:Mme UTSW 3 63,235,485 (GRCm39) missense probably damaging 1.00
R3983:Mme UTSW 3 63,235,485 (GRCm39) missense probably damaging 1.00
R4494:Mme UTSW 3 63,254,613 (GRCm39) missense probably benign
R4589:Mme UTSW 3 63,287,693 (GRCm39) missense probably benign
R4706:Mme UTSW 3 63,256,133 (GRCm39) missense possibly damaging 0.92
R4871:Mme UTSW 3 63,247,453 (GRCm39) missense probably benign 0.01
R4957:Mme UTSW 3 63,250,910 (GRCm39) splice site probably benign
R5053:Mme UTSW 3 63,272,270 (GRCm39) missense probably damaging 1.00
R5316:Mme UTSW 3 63,276,375 (GRCm39) missense probably damaging 1.00
R5502:Mme UTSW 3 63,207,702 (GRCm39) nonsense probably null
R5579:Mme UTSW 3 63,256,066 (GRCm39) missense probably damaging 1.00
R6007:Mme UTSW 3 63,250,929 (GRCm39) nonsense probably null
R6022:Mme UTSW 3 63,272,218 (GRCm39) missense probably damaging 1.00
R6143:Mme UTSW 3 63,207,532 (GRCm39) splice site probably null
R6154:Mme UTSW 3 63,207,674 (GRCm39) missense probably damaging 0.98
R6333:Mme UTSW 3 63,249,382 (GRCm39) missense probably benign 0.00
R6476:Mme UTSW 3 63,251,056 (GRCm39) critical splice donor site probably null
R6514:Mme UTSW 3 63,272,265 (GRCm39) nonsense probably null
R6711:Mme UTSW 3 63,249,339 (GRCm39) missense possibly damaging 0.93
R6842:Mme UTSW 3 63,269,465 (GRCm39) missense probably damaging 1.00
R6996:Mme UTSW 3 63,253,523 (GRCm39) missense possibly damaging 0.63
R7040:Mme UTSW 3 63,276,344 (GRCm39) missense probably damaging 1.00
R7043:Mme UTSW 3 63,252,638 (GRCm39) nonsense probably null
R7126:Mme UTSW 3 63,276,322 (GRCm39) missense probably damaging 0.97
R7783:Mme UTSW 3 63,272,288 (GRCm39) missense probably damaging 1.00
R8501:Mme UTSW 3 63,234,156 (GRCm39) missense probably damaging 1.00
R8857:Mme UTSW 3 63,256,070 (GRCm39) missense probably damaging 1.00
R9453:Mme UTSW 3 63,272,306 (GRCm39) missense possibly damaging 0.90
R9556:Mme UTSW 3 63,272,225 (GRCm39) missense probably damaging 0.97
R9648:Mme UTSW 3 63,208,426 (GRCm39) missense probably benign 0.02
X0058:Mme UTSW 3 63,272,442 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATATGGGTGGCCAGTAGCATC -3'
(R):5'- AGGGCAGGGATTTCTTATACTTTAG -3'

Sequencing Primer
(F):5'- CCAGTAGCATCAGATAACTGGGATC -3'
(R):5'- TCATGCATTGAAAGGAAGAATTAGC -3'
Posted On 2019-05-15