Incidental Mutation 'R1852:Mme'
ID 208177
Institutional Source Beutler Lab
Gene Symbol Mme
Ensembl Gene ENSMUSG00000027820
Gene Name membrane metallo endopeptidase
Synonyms neprilysin, 6030454K05Rik, neutral endopeptidase, NEP, CD10
MMRRC Submission 039876-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1852 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 63202632-63291134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63235467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 172 (D172N)
Ref Sequence ENSEMBL: ENSMUSP00000141452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029400] [ENSMUST00000191633] [ENSMUST00000192002] [ENSMUST00000194134] [ENSMUST00000194150] [ENSMUST00000194836] [ENSMUST00000194324]
AlphaFold Q61391
Predicted Effect probably benign
Transcript: ENSMUST00000029400
AA Change: D172N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029400
Gene: ENSMUSG00000027820
AA Change: D172N

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
AA Change: D118N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141469
Gene: ENSMUSG00000027820
AA Change: D118N

DomainStartEndE-ValueType
Pfam:Peptidase_M13_N 14 130 3.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192002
AA Change: D172N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141483
Gene: ENSMUSG00000027820
AA Change: D172N

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 noncoding transcript
Transcript: ENSMUST00000193805
Predicted Effect probably benign
Transcript: ENSMUST00000194134
AA Change: D172N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000142205
Gene: ENSMUSG00000027820
AA Change: D172N

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: ENSMUST00000194150
AA Change: D172N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141544
Gene: ENSMUSG00000027820
AA Change: D172N

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: ENSMUST00000194836
AA Change: D172N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000141452
Gene: ENSMUSG00000027820
AA Change: D172N

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
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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A G 7: 12,246,629 (GRCm39) probably null Het
4930433I11Rik T A 7: 40,643,037 (GRCm39) D326E probably benign Het
Abca8a T C 11: 109,960,212 (GRCm39) D676G probably damaging Het
Abcb7 T C X: 103,349,005 (GRCm39) M153V probably benign Het
Ablim3 G A 18: 61,982,466 (GRCm39) H160Y probably benign Het
Acsl6 T C 11: 54,251,902 (GRCm39) I683T probably damaging Het
Adgrg5 A T 8: 95,664,428 (GRCm39) Y345F probably damaging Het
Alg6 T G 4: 99,634,599 (GRCm39) F114V probably benign Het
Ank2 A C 3: 126,791,500 (GRCm39) probably null Het
Ankrd24 A T 10: 81,478,775 (GRCm39) probably benign Het
Ano8 T C 8: 71,936,131 (GRCm39) K222E probably damaging Het
Arhgef5 T C 6: 43,252,119 (GRCm39) S957P probably benign Het
Bltp2 A G 11: 78,159,299 (GRCm39) D499G probably damaging Het
Bmpr1b A T 3: 141,563,163 (GRCm39) probably null Het
C3 A G 17: 57,529,823 (GRCm39) V2A probably damaging Het
Capn1 A G 19: 6,059,133 (GRCm39) V276A possibly damaging Het
Ccdc57 T C 11: 120,812,499 (GRCm39) E85G probably damaging Het
Chil3 C T 3: 106,056,117 (GRCm39) probably null Het
Chl1 A T 6: 103,676,120 (GRCm39) probably null Het
Chodl C T 16: 78,738,146 (GRCm39) P38L probably benign Het
Clec4a2 G T 6: 123,116,084 (GRCm39) E124* probably null Het
Cmtr1 T C 17: 29,921,229 (GRCm39) V825A probably benign Het
Cnksr3 T C 10: 7,070,539 (GRCm39) I232V probably benign Het
Cntn1 C T 15: 92,203,021 (GRCm39) R768C probably damaging Het
Col15a1 G T 4: 47,299,278 (GRCm39) probably null Het
Col6a3 T A 1: 90,735,256 (GRCm39) I798F possibly damaging Het
Cpxcr1 T A X: 115,387,758 (GRCm39) L223* probably null Het
Cul1 A G 6: 47,497,764 (GRCm39) N615S probably damaging Het
Cxcr2 A G 1: 74,198,438 (GRCm39) I311V probably benign Het
Cyp2c67 C T 19: 39,605,811 (GRCm39) G362S probably benign Het
D930048N14Rik T A 11: 51,544,692 (GRCm39) probably benign Het
Ddx49 T C 8: 70,753,633 (GRCm39) T79A probably damaging Het
Defb46 T A 8: 19,289,991 (GRCm39) probably null Het
Dnah17 T A 11: 118,012,742 (GRCm39) I145F probably damaging Het
Dock8 A T 19: 25,104,492 (GRCm39) I725F probably benign Het
Dppa4 G A 16: 48,108,247 (GRCm39) A11T probably damaging Het
Enam T A 5: 88,652,324 (GRCm39) S1278T possibly damaging Het
Fndc3a A G 14: 72,794,283 (GRCm39) V829A probably damaging Het
Gatb T G 3: 85,526,184 (GRCm39) L354R probably damaging Het
Gm10787 A T 10: 76,857,711 (GRCm39) noncoding transcript Het
Gsap T A 5: 21,495,543 (GRCm39) probably null Het
Gtf2ird1 T C 5: 134,411,434 (GRCm39) probably null Het
Has3 A T 8: 107,600,711 (GRCm39) I58F probably damaging Het
Haus5 A T 7: 30,357,926 (GRCm39) probably null Het
Hip1r T C 5: 124,129,568 (GRCm39) V169A probably benign Het
Hnf1a T A 5: 115,108,770 (GRCm39) D45V probably damaging Het
Il20ra T A 10: 19,618,767 (GRCm39) Y72N probably damaging Het
Ipo11 A T 13: 106,948,765 (GRCm39) V914E possibly damaging Het
Itpr1 T C 6: 108,363,667 (GRCm39) L763P probably damaging Het
Katnal2 C A 18: 77,103,719 (GRCm39) R104L probably benign Het
Kcng4 G T 8: 120,352,947 (GRCm39) P321Q probably benign Het
Larp4b T C 13: 9,187,339 (GRCm39) probably null Het
Lars1 T C 18: 42,345,673 (GRCm39) N1001S probably benign Het
Lhcgr T A 17: 89,072,604 (GRCm39) I148F probably damaging Het
Lsm10 T A 4: 125,991,756 (GRCm39) S37R possibly damaging Het
Mfsd13a A G 19: 46,360,619 (GRCm39) probably null Het
Mipep T A 14: 61,080,689 (GRCm39) C560* probably null Het
Mtrex A T 13: 113,009,461 (GRCm39) H979Q probably benign Het
Mx1 A T 16: 97,249,403 (GRCm39) L608Q probably damaging Het
Myt1l T C 12: 29,901,660 (GRCm39) M208T probably benign Het
Neb T C 2: 52,118,554 (GRCm39) I3987V probably damaging Het
Nelfcd A G 2: 174,265,771 (GRCm39) probably null Het
Neto1 T C 18: 86,414,009 (GRCm39) M1T probably null Het
Nom1 T C 5: 29,651,876 (GRCm39) F738S possibly damaging Het
Or10v1 C A 19: 11,874,249 (GRCm39) P288H probably damaging Het
Or4f61 C A 2: 111,922,192 (GRCm39) V285L probably benign Het
Or51h5 C T 7: 102,577,648 (GRCm39) S271L probably damaging Het
Or5b123 C T 19: 13,596,967 (GRCm39) S147F probably damaging Het
Or5w14 T C 2: 87,541,317 (GRCm39) probably null Het
Or6c203 T C 10: 129,010,197 (GRCm39) K231R probably benign Het
Or6f2 T A 7: 139,756,474 (GRCm39) L147* probably null Het
Or9m1b T G 2: 87,836,865 (GRCm39) I86L probably damaging Het
Pak1ip1 A G 13: 41,164,708 (GRCm39) T264A possibly damaging Het
Palb2 G T 7: 121,713,537 (GRCm39) D915E possibly damaging Het
Pank4 T C 4: 155,060,816 (GRCm39) L491P probably damaging Het
Paqr7 T C 4: 134,234,980 (GRCm39) V279A probably benign Het
Pcif1 G A 2: 164,730,386 (GRCm39) R373Q probably damaging Het
Pdgfa T A 5: 138,964,927 (GRCm39) N185I probably benign Het
Plcd4 T C 1: 74,588,520 (GRCm39) V123A possibly damaging Het
Pramel26 T C 4: 143,539,396 (GRCm39) I32M probably benign Het
Prune2 A G 19: 17,176,503 (GRCm39) I154V probably damaging Het
Rac3 T G 11: 120,614,320 (GRCm39) L148R possibly damaging Het
Rapgef6 T A 11: 54,533,637 (GRCm39) D362E probably benign Het
Rbl1 A G 2: 157,016,823 (GRCm39) I592T probably benign Het
Rbl2 A C 8: 91,822,191 (GRCm39) D408A possibly damaging Het
Retreg2 A G 1: 75,123,319 (GRCm39) K416E probably benign Het
Rorb A T 19: 18,939,447 (GRCm39) L234H probably damaging Het
Rpp40 T G 13: 36,080,897 (GRCm39) D279A probably benign Het
Siglec1 C A 2: 130,923,420 (GRCm39) V442L probably damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc25a34 G A 4: 141,349,579 (GRCm39) T192I probably benign Het
Sp140l1 G A 1: 85,062,852 (GRCm39) probably benign Het
Sptbn5 T C 2: 119,902,125 (GRCm39) I126M possibly damaging Het
Strada A G 11: 106,062,047 (GRCm39) V94A possibly damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Tgm1 T C 14: 55,942,398 (GRCm39) Y651C probably damaging Het
Tmem200c T A 17: 69,147,612 (GRCm39) V65E probably damaging Het
Tmem74 A T 15: 43,730,559 (GRCm39) D161E probably benign Het
Trgc3 A T 13: 19,445,261 (GRCm39) M70L probably damaging Het
Vcan T G 13: 89,853,511 (GRCm39) E483A probably damaging Het
Vmn2r124 A G 17: 18,283,436 (GRCm39) T377A probably benign Het
Vmn2r3 A C 3: 64,166,815 (GRCm39) I772S probably damaging Het
Wdfy3 A G 5: 102,063,242 (GRCm39) V1342A probably benign Het
Zfp507 T C 7: 35,487,176 (GRCm39) H764R probably damaging Het
Znrf3 A G 11: 5,237,455 (GRCm39) I218T possibly damaging 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 63,235,404 (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
R7084:Mme UTSW 3 63,235,638 (GRCm39) missense probably damaging 0.98
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'- ACTGAAGACATAGTAGCAGTGC -3'
(R):5'- GCTGGGTAGAATTCTTATCATCAGTG -3'

Sequencing Primer
(F):5'- GCAAAAACCTTGTACAGATCGTG -3'
(R):5'- GTAGAATTCTTATCATCAGTGCCAAC -3'
Posted On 2014-06-23