Incidental Mutation 'R1566:Mmel1'
ID 175254
Institutional Source Beutler Lab
Gene Symbol Mmel1
Ensembl Gene ENSMUSG00000058183
Gene Name membrane metallo-endopeptidase-like 1
Synonyms NEPLP alpha, NEPLP beta, Mell1, SEP, Nep2, Nl1, NEPLP gamma
MMRRC Submission 039605-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R1566 (G1)
Quality Score 206
Status Not validated
Chromosome 4
Chromosomal Location 154954042-154979985 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 154968110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 149 (R149C)
Ref Sequence ENSEMBL: ENSMUSP00000131753 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079269] [ENSMUST00000080559] [ENSMUST00000105634] [ENSMUST00000105635] [ENSMUST00000131758] [ENSMUST00000163732]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000079269
AA Change: R149C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078252
Gene: ENSMUSG00000058183
AA Change: R149C

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Peptidase_M13_N 99 498 1.7e-135 PFAM
Pfam:Peptidase_M13 559 767 1.2e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000080559
AA Change: R126C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079399
Gene: ENSMUSG00000058183
AA Change: R126C

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Peptidase_M13_N 76 512 4.8e-131 PFAM
Pfam:Peptidase_M13 573 779 3.4e-71 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105634
AA Change: R126C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101259
Gene: ENSMUSG00000058183
AA Change: R126C

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Peptidase_M13_N 76 512 1.4e-105 PFAM
Pfam:Peptidase_M13 573 781 4e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105635
AA Change: R126C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101260
Gene: ENSMUSG00000058183
AA Change: R126C

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Peptidase_M13_N 76 475 1.6e-135 PFAM
Pfam:Peptidase_M13 536 744 1.2e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131758
AA Change: R58C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121243
Gene: ENSMUSG00000058183
AA Change: R58C

DomainStartEndE-ValueType
Pfam:Peptidase_M13_N 8 150 2.8e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163732
AA Change: R149C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131753
Gene: ENSMUSG00000058183
AA Change: R149C

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Peptidase_M13_N 99 498 1.7e-135 PFAM
Pfam:Peptidase_M13 559 765 3.3e-71 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display impaired male fertility. Female fertility is not affected. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,679,632 (GRCm39) I247F probably benign Het
Afap1l1 T C 18: 61,888,714 (GRCm39) N119S probably benign Het
Ap2a1 T C 7: 44,552,904 (GRCm39) D721G probably benign Het
Ap3m2 C T 8: 23,293,967 (GRCm39) V28M probably damaging Het
Arhgef7 A G 8: 11,832,620 (GRCm39) T32A possibly damaging Het
Avl9 C T 6: 56,713,467 (GRCm39) R242* probably null Het
Bsn G A 9: 108,003,184 (GRCm39) T407I probably benign Het
Capn3 A T 2: 120,333,474 (GRCm39) R627S possibly damaging Het
Car13 G A 3: 14,715,758 (GRCm39) R92Q probably benign Het
Clcn1 T C 6: 42,268,374 (GRCm39) I149T possibly damaging Het
Col1a2 G T 6: 4,523,613 (GRCm39) G514V probably damaging Het
Ctsw C A 19: 5,515,445 (GRCm39) C347F probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Eif1ad8 A T 12: 87,564,001 (GRCm39) H112L probably benign Het
Eml1 T A 12: 108,438,151 (GRCm39) V97D probably damaging Het
Epb41l1 A G 2: 156,363,879 (GRCm39) E796G probably benign Het
Gdnf A G 15: 7,863,895 (GRCm39) K102R probably benign Het
Gm1110 T C 9: 26,792,166 (GRCm39) E618G probably damaging Het
Gmnc T C 16: 26,782,689 (GRCm39) D22G probably damaging Het
Greb1 T C 12: 16,761,829 (GRCm39) D517G possibly damaging Het
Gsta1 A T 9: 78,149,741 (GRCm39) K185* probably null Het
Ift88 A G 14: 57,678,468 (GRCm39) D160G probably benign Het
Intu T A 3: 40,647,008 (GRCm39) I627N probably damaging Het
Itgav T A 2: 83,566,974 (GRCm39) F101L probably damaging Het
Kars1 C T 8: 112,724,290 (GRCm39) V475I probably benign Het
Klra3 G C 6: 130,310,107 (GRCm39) R138G probably benign Het
Klra7 A G 6: 130,208,564 (GRCm39) V6A probably damaging Het
Krtap6-2 A G 16: 89,216,626 (GRCm39) S114P unknown Het
Ldlrad4 T C 18: 68,383,669 (GRCm39) S122P probably benign Het
Lig4 C A 8: 10,023,650 (GRCm39) L43F probably benign Het
Mfsd4a T C 1: 131,986,917 (GRCm39) D137G probably damaging Het
Morc2b T A 17: 33,355,948 (GRCm39) H608L probably benign Het
Mrgpra6 G A 7: 46,838,652 (GRCm39) T182I probably benign Het
Nat8l C A 5: 34,158,200 (GRCm39) N203K probably benign Het
Nin A T 12: 70,101,253 (GRCm39) V448E probably damaging Het
Or10a4 T G 7: 106,696,759 (GRCm39) F29C probably damaging Het
Or2m12 T A 16: 19,105,077 (GRCm39) M139L possibly damaging Het
Or5k15 T A 16: 58,709,903 (GRCm39) I227F probably damaging Het
Or8k21 G A 2: 86,145,129 (GRCm39) T167I probably benign Het
Pank4 T C 4: 155,064,978 (GRCm39) L759P probably damaging Het
Pcm1 T A 8: 41,743,810 (GRCm39) N1152K probably damaging Het
Pitpnm3 A T 11: 71,949,785 (GRCm39) probably null Het
Plekhg3 T C 12: 76,618,839 (GRCm39) M497T possibly damaging Het
Ppfia3 T C 7: 44,990,112 (GRCm39) D1138G probably damaging Het
Prl6a1 T A 13: 27,499,410 (GRCm39) S59R possibly damaging Het
Pth2r A G 1: 65,427,697 (GRCm39) S457G possibly damaging Het
Rbm25 T A 12: 83,721,828 (GRCm39) N671K probably damaging Het
Rbm26 T A 14: 105,397,980 (GRCm39) K47N unknown Het
Ryr1 T A 7: 28,791,600 (GRCm39) I1435F possibly damaging Het
Scin T A 12: 40,131,673 (GRCm39) H287L probably benign Het
Serpinb9e T C 13: 33,437,477 (GRCm39) L120P probably damaging Het
Slc34a1 A C 13: 55,559,844 (GRCm39) probably null Het
Slc39a10 A G 1: 46,875,245 (GRCm39) F19S possibly damaging Het
Sos1 A G 17: 80,761,345 (GRCm39) V117A probably damaging Het
Spta1 C A 1: 174,012,272 (GRCm39) N359K probably benign Het
Sspo G A 6: 48,443,804 (GRCm39) probably null Het
Stx5a T A 19: 8,719,675 (GRCm39) D13E probably damaging Het
Supt16 G A 14: 52,414,112 (GRCm39) A489V probably damaging Het
Tap1 T A 17: 34,408,520 (GRCm39) L253Q probably benign Het
Tmc6 A G 11: 117,660,262 (GRCm39) S659P probably damaging Het
Tnfsf14 T C 17: 57,500,876 (GRCm39) D65G probably benign Het
Ttc28 G A 5: 111,373,543 (GRCm39) S962N probably damaging Het
Ugt8a T C 3: 125,669,207 (GRCm39) Y299C probably damaging Het
Upk1a A G 7: 30,309,145 (GRCm39) V59A possibly damaging Het
Usp38 T C 8: 81,711,432 (GRCm39) T868A probably benign Het
Wdsub1 G A 2: 59,707,059 (GRCm39) H58Y probably damaging Het
Zc3h7b T C 15: 81,653,035 (GRCm39) S19P possibly damaging Het
Zfp385b A C 2: 77,246,257 (GRCm39) F257V probably benign Het
Zmym4 A C 4: 126,804,940 (GRCm39) I188S possibly damaging Het
Other mutations in Mmel1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Mmel1 APN 4 154,972,289 (GRCm39) splice site probably benign
IGL01560:Mmel1 APN 4 154,976,967 (GRCm39) missense probably null 1.00
IGL01734:Mmel1 APN 4 154,976,408 (GRCm39) missense probably benign 0.00
IGL02933:Mmel1 APN 4 154,968,087 (GRCm39) missense probably damaging 1.00
IGL03178:Mmel1 APN 4 154,975,311 (GRCm39) missense possibly damaging 0.75
R1161:Mmel1 UTSW 4 154,979,671 (GRCm39) missense probably damaging 1.00
R1522:Mmel1 UTSW 4 154,979,443 (GRCm39) missense probably damaging 1.00
R1885:Mmel1 UTSW 4 154,975,333 (GRCm39) missense possibly damaging 0.76
R2177:Mmel1 UTSW 4 154,978,560 (GRCm39) missense probably damaging 1.00
R3413:Mmel1 UTSW 4 154,974,043 (GRCm39) missense probably damaging 1.00
R3432:Mmel1 UTSW 4 154,969,955 (GRCm39) splice site probably benign
R3870:Mmel1 UTSW 4 154,968,095 (GRCm39) missense probably benign 0.01
R4197:Mmel1 UTSW 4 154,977,761 (GRCm39) missense probably damaging 1.00
R4822:Mmel1 UTSW 4 154,972,354 (GRCm39) missense probably benign 0.00
R4998:Mmel1 UTSW 4 154,969,967 (GRCm39) missense probably benign 0.00
R5135:Mmel1 UTSW 4 154,966,781 (GRCm39) missense probably benign 0.20
R5225:Mmel1 UTSW 4 154,976,456 (GRCm39) missense probably damaging 0.96
R5821:Mmel1 UTSW 4 154,970,044 (GRCm39) missense possibly damaging 0.82
R6131:Mmel1 UTSW 4 154,979,475 (GRCm39) missense probably damaging 1.00
R6132:Mmel1 UTSW 4 154,979,475 (GRCm39) missense probably damaging 1.00
R6133:Mmel1 UTSW 4 154,979,475 (GRCm39) missense probably damaging 1.00
R6194:Mmel1 UTSW 4 154,967,673 (GRCm39) nonsense probably null
R6223:Mmel1 UTSW 4 154,956,159 (GRCm39) splice site probably null
R6786:Mmel1 UTSW 4 154,976,885 (GRCm39) nonsense probably null
R6921:Mmel1 UTSW 4 154,966,134 (GRCm39) missense probably damaging 0.97
R7272:Mmel1 UTSW 4 154,978,547 (GRCm39) missense probably damaging 1.00
R7373:Mmel1 UTSW 4 154,973,665 (GRCm39) missense not run
R7685:Mmel1 UTSW 4 154,956,111 (GRCm39) start codon destroyed probably null 0.28
R7996:Mmel1 UTSW 4 154,976,912 (GRCm39) missense probably benign 0.03
R8683:Mmel1 UTSW 4 154,973,985 (GRCm39) missense probably benign 0.13
R8856:Mmel1 UTSW 4 154,969,478 (GRCm39) missense possibly damaging 0.84
R8924:Mmel1 UTSW 4 154,974,091 (GRCm39) missense probably damaging 1.00
R9364:Mmel1 UTSW 4 154,976,967 (GRCm39) missense probably null 1.00
R9594:Mmel1 UTSW 4 154,978,592 (GRCm39) missense probably benign 0.15
R9683:Mmel1 UTSW 4 154,977,285 (GRCm39) missense probably damaging 1.00
X0025:Mmel1 UTSW 4 154,979,142 (GRCm39) missense probably benign 0.06
Z1176:Mmel1 UTSW 4 154,979,665 (GRCm39) nonsense probably null
Z1177:Mmel1 UTSW 4 154,978,531 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- AGTTGAACTGAGCCGTCACTGC -3'
(R):5'- GGACTTCAAAGCCCAGTACACAGG -3'

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