Incidental Mutation 'R0144:Manea'
ID 22491
Institutional Source Beutler Lab
Gene Symbol Manea
Ensembl Gene ENSMUSG00000040520
Gene Name mannosidase, endo-alpha
Synonyms 4932703L02Rik
MMRRC Submission 038429-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R0144 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 4
Chromosomal Location 26324506-26346891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26340719 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 81 (M81T)
Ref Sequence ENSEMBL: ENSMUSP00000038671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041374] [ENSMUST00000153813]
AlphaFold Q6NXH2
Predicted Effect probably benign
Transcript: ENSMUST00000041374
AA Change: M81T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000038671
Gene: ENSMUSG00000040520
AA Change: M81T

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:Glyco_hydro_99 98 448 3.2e-192 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133105
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140492
Predicted Effect probably benign
Transcript: ENSMUST00000153813
SMART Domains Protein: ENSMUSP00000115791
Gene: ENSMUSG00000040520

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 87.0%
Validation Efficiency 100% (90/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to acceptor sites on the target protein by an oligosaccharyltransferase complex. This core oligosaccharide is sequentially processed by several ER glycosidases and by an endomannosidase (E.C. 3.2.1.130), such as MANEA, in the Golgi. MANEA catalyzes the release of mono-, di-, and triglucosylmannose oligosaccharides by cleaving the alpha-1,2-mannosidic bond that links them to high-mannose glycans (Hamilton et al., 2005 [PubMed 15677381]).[supplied by OMIM, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T A 12: 84,652,739 (GRCm39) probably null Het
Acp6 T A 3: 97,073,145 (GRCm39) probably benign Het
AI661453 A T 17: 47,780,224 (GRCm39) probably benign Het
Aox1 A G 1: 58,109,233 (GRCm39) I674V probably benign Het
Armc2 A T 10: 41,823,883 (GRCm39) probably benign Het
Atp8b1 G C 18: 64,704,445 (GRCm39) probably benign Het
Baz2b A T 2: 59,737,839 (GRCm39) N1823K probably damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
Brca1 A T 11: 101,416,947 (GRCm39) S396T probably damaging Het
Btnl6 G T 17: 34,732,994 (GRCm39) R290S probably benign Het
Casp8ap2 A G 4: 32,643,797 (GRCm39) R957G possibly damaging Het
Ccdc13 A G 9: 121,656,417 (GRCm39) L132P probably damaging Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Ceacam15 G T 7: 16,407,116 (GRCm39) H134N probably benign Het
Cep170 T C 1: 176,620,161 (GRCm39) I46V probably benign Het
Cfap57 T C 4: 118,441,902 (GRCm39) D722G probably damaging Het
Col11a1 A T 3: 113,907,243 (GRCm39) D628V unknown Het
Csmd1 A T 8: 16,441,838 (GRCm39) V342E probably benign Het
Dennd1a A G 2: 38,016,652 (GRCm39) V64A probably damaging Het
Dlec1 G T 9: 118,971,934 (GRCm39) G1345V probably benign Het
Dnah1 G A 14: 30,989,831 (GRCm39) probably benign Het
Dock5 C T 14: 68,023,735 (GRCm39) G1142D probably benign Het
Etv2 C A 7: 30,334,308 (GRCm39) A142S probably benign Het
Fam110c C A 12: 31,124,500 (GRCm39) T154K unknown Het
Fbxo17 C G 7: 28,434,765 (GRCm39) D183E probably damaging Het
Fbxo30 T A 10: 11,170,964 (GRCm39) W681R probably damaging Het
Fig4 A G 10: 41,134,045 (GRCm39) Y413H probably damaging Het
Gab1 A G 8: 81,511,830 (GRCm39) probably benign Het
Gabarapl1 T C 6: 129,510,411 (GRCm39) M1T probably null Het
H2-M10.6 G A 17: 37,123,133 (GRCm39) C22Y probably damaging Het
Igfn1 T C 1: 135,889,751 (GRCm39) D2432G probably damaging Het
Il13 T C 11: 53,524,003 (GRCm39) D60G possibly damaging Het
Iqgap1 A G 7: 80,401,668 (GRCm39) L479P probably damaging Het
Itpr2 T A 6: 146,228,653 (GRCm39) Q1314L probably damaging Het
Jrk C T 15: 74,578,005 (GRCm39) G427S probably benign Het
Kcnb1 T G 2: 166,946,467 (GRCm39) N794H probably damaging Het
Klhl8 A T 5: 104,015,804 (GRCm39) S361R probably benign Het
Krt87 T C 15: 101,336,542 (GRCm39) Y37C probably benign Het
Lbp A T 2: 158,161,630 (GRCm39) S231C probably damaging Het
Lpin2 A G 17: 71,532,071 (GRCm39) E142G probably damaging Het
Lrch4 G A 5: 137,636,805 (GRCm39) probably null Het
Lypd11 A G 7: 24,423,015 (GRCm39) V101A possibly damaging Het
Mcm3ap A G 10: 76,316,849 (GRCm39) T618A probably benign Het
Me3 A G 7: 89,389,080 (GRCm39) D128G probably damaging Het
Mix23 A T 16: 35,905,484 (GRCm39) N92I possibly damaging Het
Mug2 A G 6: 122,047,970 (GRCm39) probably benign Het
Myo9b A T 8: 71,798,687 (GRCm39) Q901L probably damaging Het
Nalcn T C 14: 123,608,948 (GRCm39) R640G probably damaging Het
Nalcn C T 14: 123,647,251 (GRCm39) probably benign Het
Ncor1 T C 11: 62,283,421 (GRCm39) N422S probably damaging Het
Nf1 T A 11: 79,437,953 (GRCm39) Y88N probably damaging Het
Nrxn3 G A 12: 89,315,162 (GRCm39) A358T probably damaging Het
Or52s1 A T 7: 102,861,747 (GRCm39) I216F probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5p62 T C 7: 107,771,178 (GRCm39) I258V probably benign Het
Phlpp2 C T 8: 110,634,145 (GRCm39) R242W probably damaging Het
Pld5 T C 1: 175,798,107 (GRCm39) N431D probably benign Het
Prss28 G A 17: 25,528,424 (GRCm39) V16M probably damaging Het
Psmd2 T A 16: 20,480,975 (GRCm39) probably null Het
Ptpn21 A T 12: 98,654,868 (GRCm39) S700T probably benign Het
Rasa2 A T 9: 96,474,072 (GRCm39) V152D probably damaging Het
Reln G T 5: 22,153,447 (GRCm39) R2286S probably damaging Het
Rflnb G T 11: 75,915,789 (GRCm39) P102Q probably damaging Het
Rin2 G A 2: 145,718,559 (GRCm39) V680I probably damaging Het
Rnf213 A T 11: 119,370,426 (GRCm39) K4742* probably null Het
Rpp40 A T 13: 36,085,352 (GRCm39) S143T probably benign Het
Rps12 A G 10: 23,662,689 (GRCm39) I51T probably benign Het
Rsf1 T A 7: 97,285,614 (GRCm39) W109R probably damaging Het
Sipa1l2 C T 8: 126,176,615 (GRCm39) probably null Het
Tspan5 G T 3: 138,604,109 (GRCm39) V165L probably damaging Het
Uts2r T A 11: 121,052,291 (GRCm39) V385E probably benign Het
Vma21-ps T A 4: 52,497,231 (GRCm39) D5V possibly damaging Het
Vmn2r62 T A 7: 42,438,440 (GRCm39) N132I probably damaging Het
Zfp622 T C 15: 25,991,665 (GRCm39) probably benign Het
Zmiz1 A G 14: 25,655,671 (GRCm39) K766R probably damaging Het
Other mutations in Manea
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00685:Manea APN 4 26,340,578 (GRCm39) missense probably damaging 1.00
IGL02066:Manea APN 4 26,340,965 (GRCm39) utr 5 prime probably benign
IGL02195:Manea APN 4 26,340,628 (GRCm39) nonsense probably null
IGL02527:Manea APN 4 26,336,619 (GRCm39) critical splice donor site probably null
IGL02727:Manea APN 4 26,328,127 (GRCm39) nonsense probably null
IGL02727:Manea APN 4 26,328,126 (GRCm39) missense probably damaging 1.00
R0099:Manea UTSW 4 26,328,104 (GRCm39) missense probably damaging 1.00
R0103:Manea UTSW 4 26,329,080 (GRCm39) splice site probably null
R0839:Manea UTSW 4 26,327,983 (GRCm39) missense probably damaging 1.00
R1998:Manea UTSW 4 26,327,871 (GRCm39) missense probably damaging 1.00
R1999:Manea UTSW 4 26,327,871 (GRCm39) missense probably damaging 1.00
R5022:Manea UTSW 4 26,336,630 (GRCm39) nonsense probably null
R6621:Manea UTSW 4 26,340,363 (GRCm39) splice site probably null
R7113:Manea UTSW 4 26,336,718 (GRCm39) missense probably damaging 1.00
R7436:Manea UTSW 4 26,328,228 (GRCm39) missense probably damaging 1.00
R7553:Manea UTSW 4 26,327,986 (GRCm39) missense probably damaging 1.00
R7649:Manea UTSW 4 26,328,234 (GRCm39) missense probably damaging 1.00
R7680:Manea UTSW 4 26,340,649 (GRCm39) missense probably damaging 1.00
R7690:Manea UTSW 4 26,327,910 (GRCm39) missense probably benign 0.41
R7698:Manea UTSW 4 26,327,763 (GRCm39) missense probably damaging 1.00
R7699:Manea UTSW 4 26,340,758 (GRCm39) missense probably benign 0.03
R9568:Manea UTSW 4 26,340,468 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCTTCAGTCCTAAAGACCCTTCC -3'
(R):5'- AACGCAGCATCCTTTGGACCTC -3'

Sequencing Primer
(F):5'- aaataattaCCAACCAATTGAGGCTG -3'
(R):5'- GGACCTCCTTTTGGACTTGAC -3'
Posted On 2013-04-16