Incidental Mutation 'R7184:Manba'
ID 559164
Institutional Source Beutler Lab
Gene Symbol Manba
Ensembl Gene ENSMUSG00000028164
Gene Name mannosidase, beta A, lysosomal
Synonyms B930014J03Rik, Bmn, 2410030O07Rik
MMRRC Submission 045236-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 135191372-135277165 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135228915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 279 (V279A)
Ref Sequence ENSEMBL: ENSMUSP00000029814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029814] [ENSMUST00000131610]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000029814
AA Change: V279A

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029814
Gene: ENSMUSG00000028164
AA Change: V279A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_2_N 42 211 6.5e-11 PFAM
Pfam:Glyco_hydro_2_C 340 595 3.8e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131610
SMART Domains Protein: ENSMUSP00000122148
Gene: ENSMUSG00000028164

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Glyco_hydro_2_N 22 163 1.8e-10 PFAM
Meta Mutation Damage Score 0.1598 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation results in no dysmorphology or overt neurological problems. Homozygotes show no beta-mannosidase activity and display consistent cytoplasmic vacuolation in the central nervous system and minimal vacuolation in most visceral organs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,094,219 (GRCm39) S500P possibly damaging Het
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Atp6v1b2 G T 8: 69,555,219 (GRCm39) A194S possibly damaging Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fcsk G A 8: 111,613,788 (GRCm39) P758S probably damaging Het
Fezf1 A G 6: 23,247,835 (GRCm39) V80A probably benign Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Fxyd1 G T 7: 30,751,401 (GRCm39) R90S unknown Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Gtf2h3 A G 5: 124,722,067 (GRCm39) N55S probably benign Het
Htr4 T A 18: 62,570,498 (GRCm39) C184* probably null Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Map4k5 T A 12: 69,921,095 (GRCm39) H41L probably benign Het
Mcm2 T G 6: 88,868,776 (GRCm39) Y327S probably damaging Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc26a5 G T 5: 22,042,244 (GRCm39) Y237* probably null Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Tet2 T C 3: 133,179,391 (GRCm39) Y1258C probably damaging Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zfp457 C A 13: 67,442,065 (GRCm39) C170F possibly damaging Het
Zscan10 A G 17: 23,826,003 (GRCm39) probably null Het
Other mutations in Manba
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Manba APN 3 135,260,541 (GRCm39) nonsense probably null
IGL01443:Manba APN 3 135,250,589 (GRCm39) missense probably damaging 1.00
IGL01796:Manba APN 3 135,248,150 (GRCm39) missense probably damaging 1.00
IGL02396:Manba APN 3 135,250,525 (GRCm39) missense probably damaging 1.00
IGL02471:Manba APN 3 135,212,769 (GRCm39) splice site probably benign
IGL02809:Manba APN 3 135,253,321 (GRCm39) missense probably damaging 1.00
IGL02861:Manba APN 3 135,276,024 (GRCm39) missense probably benign 0.03
IGL02934:Manba APN 3 135,250,510 (GRCm39) missense probably benign 0.00
IGL03130:Manba APN 3 135,256,920 (GRCm39) missense probably damaging 1.00
IGL03237:Manba APN 3 135,250,512 (GRCm39) missense probably damaging 1.00
IGL03342:Manba APN 3 135,223,748 (GRCm39) missense possibly damaging 0.51
R0551:Manba UTSW 3 135,223,734 (GRCm39) missense probably damaging 0.98
R1549:Manba UTSW 3 135,250,567 (GRCm39) missense probably damaging 1.00
R1752:Manba UTSW 3 135,212,706 (GRCm39) missense probably damaging 1.00
R1932:Manba UTSW 3 135,250,501 (GRCm39) missense probably benign 0.01
R1991:Manba UTSW 3 135,256,952 (GRCm39) missense probably benign 0.05
R3729:Manba UTSW 3 135,260,611 (GRCm39) missense probably benign 0.00
R3731:Manba UTSW 3 135,260,611 (GRCm39) missense probably benign 0.00
R3813:Manba UTSW 3 135,269,023 (GRCm39) missense possibly damaging 0.67
R4712:Manba UTSW 3 135,250,575 (GRCm39) missense probably damaging 1.00
R5001:Manba UTSW 3 135,273,391 (GRCm39) missense probably benign 0.00
R5481:Manba UTSW 3 135,230,317 (GRCm39) missense possibly damaging 0.86
R5889:Manba UTSW 3 135,230,359 (GRCm39) nonsense probably null
R6033:Manba UTSW 3 135,255,022 (GRCm39) missense probably benign 0.00
R6033:Manba UTSW 3 135,255,022 (GRCm39) missense probably benign 0.00
R6434:Manba UTSW 3 135,217,734 (GRCm39) splice site probably null
R6760:Manba UTSW 3 135,248,212 (GRCm39) missense probably damaging 0.98
R7164:Manba UTSW 3 135,248,149 (GRCm39) missense probably damaging 1.00
R7182:Manba UTSW 3 135,273,274 (GRCm39) missense probably benign 0.06
R7212:Manba UTSW 3 135,273,396 (GRCm39) missense probably benign
R7266:Manba UTSW 3 135,223,673 (GRCm39) missense probably damaging 1.00
R7271:Manba UTSW 3 135,248,137 (GRCm39) missense probably damaging 1.00
R7466:Manba UTSW 3 135,248,154 (GRCm39) missense probably benign 0.13
R7467:Manba UTSW 3 135,250,562 (GRCm39) missense probably damaging 1.00
R7542:Manba UTSW 3 135,272,354 (GRCm39) missense probably benign 0.10
R7546:Manba UTSW 3 135,276,007 (GRCm39) missense probably benign 0.01
R7726:Manba UTSW 3 135,223,770 (GRCm39) missense probably benign 0.14
R8475:Manba UTSW 3 135,217,573 (GRCm39) missense probably benign 0.13
R8768:Manba UTSW 3 135,256,995 (GRCm39) missense probably damaging 1.00
R8856:Manba UTSW 3 135,223,764 (GRCm39) missense probably damaging 0.98
R9140:Manba UTSW 3 135,191,490 (GRCm39) missense probably benign
R9449:Manba UTSW 3 135,255,079 (GRCm39) missense probably benign 0.01
Z1176:Manba UTSW 3 135,269,035 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CATGAATGATGCGCCTGTTG -3'
(R):5'- TGTTACAGTGTGCAATCTTGTC -3'

Sequencing Primer
(F):5'- TTCTTCCTCTGTGCTGTAGATAACG -3'
(R):5'- GAGAAAGTTGCTAGGCAC -3'
Posted On 2019-06-26