Incidental Mutation 'R6842:Mme'
ID 533890
Institutional Source Beutler Lab
Gene Symbol Mme
Ensembl Gene ENSMUSG00000027820
Gene Name membrane metallo endopeptidase
Synonyms neprilysin, 6030454K05Rik, neutral endopeptidase, NEP, CD10
MMRRC Submission 044948-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6842 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 63202632-63291134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63269465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 591 (D591E)
Ref Sequence ENSEMBL: ENSMUSP00000141544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029400] [ENSMUST00000194134] [ENSMUST00000194150]
AlphaFold Q61391
Predicted Effect probably damaging
Transcript: ENSMUST00000029400
AA Change: D591E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029400
Gene: ENSMUSG00000027820
AA Change: D591E

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 damaging
Transcript: ENSMUST00000194134
AA Change: D591E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142205
Gene: ENSMUSG00000027820
AA Change: D591E

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: D591E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141544
Gene: ENSMUSG00000027820
AA Change: D591E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,184,432 (GRCm39) N69S probably benign Het
Adgrl3 C T 5: 81,888,927 (GRCm39) A1042V probably damaging Het
Armh3 A G 19: 45,807,416 (GRCm39) V660A probably benign Het
C1s2 T A 6: 124,604,461 (GRCm39) H395L probably benign Het
Cacna1e A G 1: 154,358,863 (GRCm39) I307T probably damaging Het
Cap2 T C 13: 46,800,101 (GRCm39) S381P probably damaging Het
Cbfa2t2 A G 2: 154,365,965 (GRCm39) T392A probably benign Het
Ccdc127 T C 13: 74,505,088 (GRCm39) I212T probably damaging Het
Cela3a A G 4: 137,132,979 (GRCm39) V91A probably benign Het
Cep85 C G 4: 133,883,167 (GRCm39) A241P probably benign Het
Csmd2 T C 4: 128,402,952 (GRCm39) F2347L possibly damaging Het
Ddx19a A G 8: 111,705,257 (GRCm39) V288A possibly damaging Het
Fbxl5 T C 5: 43,930,928 (GRCm39) E53G probably damaging Het
Fbxw26 A T 9: 109,553,988 (GRCm39) I217N probably damaging Het
Fgfr1op2 T A 6: 146,491,536 (GRCm39) probably null Het
Ighv1-37 A T 12: 114,860,275 (GRCm39) I6N probably damaging Het
Klhdc10 T C 6: 30,439,781 (GRCm39) L128P probably damaging Het
Lypla1 C T 1: 4,902,563 (GRCm39) S24F probably benign Het
Mmp1b T A 9: 7,384,888 (GRCm39) I254F probably damaging Het
Msr1 T C 8: 40,085,866 (GRCm39) M5V probably benign Het
Myh8 A G 11: 67,175,481 (GRCm39) D312G probably damaging Het
Nav2 T C 7: 49,107,917 (GRCm39) Y709H possibly damaging Het
Oas1g T C 5: 121,025,621 (GRCm39) E2G probably benign Het
Ocm T A 5: 143,962,509 (GRCm39) I6F unknown Het
Odad2 C T 18: 7,268,401 (GRCm39) D373N probably benign Het
Or13f5 T C 4: 52,825,576 (GRCm39) Y60H probably damaging Het
Or2ag12 T C 7: 106,277,093 (GRCm39) Y200C probably damaging Het
Or8a1b T C 9: 37,622,885 (GRCm39) N230S probably benign Het
Or8b12i A G 9: 20,082,549 (GRCm39) L106P possibly damaging Het
Pax1 A G 2: 147,215,640 (GRCm39) D419G probably benign Het
Plbd1 T A 6: 136,612,612 (GRCm39) I194F probably benign Het
Prdx6 A T 1: 161,074,940 (GRCm39) C47S probably damaging Het
Sec24d T C 3: 123,136,868 (GRCm39) S534P probably benign Het
Sgk3 T C 1: 9,968,979 (GRCm39) V452A probably benign Het
Sipa1l1 T C 12: 82,467,320 (GRCm39) V1177A probably benign Het
Tgfbr1 T C 4: 47,383,757 (GRCm39) C32R probably damaging Het
Trim66 T C 7: 109,059,983 (GRCm39) N801S probably benign Het
Utp6 C T 11: 79,831,775 (GRCm39) S504N probably benign Het
Wdsub1 A C 2: 59,708,532 (GRCm39) S114A probably benign Het
Wfikkn2 T C 11: 94,128,866 (GRCm39) E425G probably damaging Het
Zfp956 C T 6: 47,940,763 (GRCm39) T374I 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 63,235,467 (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
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'- CATCAGTGACAATGCCATTGC -3'
(R):5'- TGCCTCAGTACAGGGGAAAG -3'

Sequencing Primer
(F):5'- CAGTGACAATGCCATTGCTAATC -3'
(R):5'- CTGACTACGTACTTAGACTTAATT -3'
Posted On 2018-09-12