Incidental Mutation 'R5493:Man1a'
ID 432187
Institutional Source Beutler Lab
Gene Symbol Man1a
Ensembl Gene ENSMUSG00000003746
Gene Name mannosidase 1, alpha
Synonyms PCR1, mannosyl-oligosaccharide alpha-1,2-mannosidase
MMRRC Submission 043054-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.818) question?
Stock # R5493 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 53780881-53952705 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53950576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 182 (V182A)
Ref Sequence ENSEMBL: ENSMUSP00000151328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003843] [ENSMUST00000105470] [ENSMUST00000218317] [ENSMUST00000220088]
AlphaFold P45700
Predicted Effect probably benign
Transcript: ENSMUST00000003843
AA Change: V182A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000003843
Gene: ENSMUSG00000003746
AA Change: V182A

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
coiled coil region 116 151 N/A INTRINSIC
Pfam:Glyco_hydro_47 204 642 4.6e-150 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105469
SMART Domains Protein: ENSMUSP00000101109
Gene: ENSMUSG00000003746

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
coiled coil region 116 151 N/A INTRINSIC
Pfam:Glyco_hydro_47 204 332 2.5e-38 PFAM
coiled coil region 346 376 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105470
AA Change: V182A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101110
Gene: ENSMUSG00000003746
AA Change: V182A

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 44 66 N/A INTRINSIC
coiled coil region 116 151 N/A INTRINSIC
Pfam:Glyco_hydro_47 204 642 4.5e-153 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181899
Predicted Effect probably benign
Transcript: ENSMUST00000218317
AA Change: V182A

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000220088
AA Change: V273A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class I mammalian Golgi 1,2-mannosidase which is a type II transmembrane protein. This protein catalyzes the hydrolysis of three terminal mannose residues from peptide-bound Man(9)-GlcNAc(2) oligosaccharides and belongs to family 47 of glycosyl hydrolases. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik A G 16: 21,471,993 (GRCm39) S236P possibly damaging Het
A830018L16Rik C T 1: 11,615,431 (GRCm39) R135C probably damaging Het
Agpat3 A G 10: 78,120,069 (GRCm39) V155A possibly damaging Het
Aldh18a1 C T 19: 40,539,734 (GRCm39) R747Q probably damaging Het
Aloxe3 A T 11: 69,019,443 (GRCm39) R119* probably null Het
Asap1 A G 15: 64,002,000 (GRCm39) V460A possibly damaging Het
Bicral C A 17: 47,112,620 (GRCm39) R860L possibly damaging Het
Cd180 T A 13: 102,842,649 (GRCm39) I565N probably benign Het
Cdk13 T C 13: 17,978,147 (GRCm39) probably benign Het
Cdkn2d T C 9: 21,200,303 (GRCm39) D156G probably benign Het
Clrn1 A G 3: 58,753,837 (GRCm39) S175P probably damaging Het
Coro7 A G 16: 4,450,351 (GRCm39) L535S probably damaging Het
Cse1l A G 2: 166,783,110 (GRCm39) probably benign Het
Cyp2a12 T C 7: 26,728,550 (GRCm39) L7P unknown Het
D130043K22Rik A G 13: 25,047,586 (GRCm39) Y377C probably damaging Het
Dctn1 G T 6: 83,159,546 (GRCm39) R8L possibly damaging Het
Duox2 T C 2: 122,111,977 (GRCm39) Q1341R probably damaging Het
Eif2b3 A G 4: 116,943,919 (GRCm39) D447G possibly damaging Het
Eif4a3l1 C G 6: 136,306,555 (GRCm39) R339G probably damaging Het
Fbxw25 T C 9: 109,481,984 (GRCm39) Y234C probably benign Het
Gcnt2 A G 13: 41,107,076 (GRCm39) N315S possibly damaging Het
Gm20730 A T 6: 43,058,746 (GRCm39) V22E possibly damaging Het
Gm4847 T A 1: 166,457,890 (GRCm39) I488F probably damaging Het
Gmds A T 13: 32,124,488 (GRCm39) M290K probably benign Het
Gtf3c1 T C 7: 125,269,716 (GRCm39) N699S probably damaging Het
Hk3 A G 13: 55,158,984 (GRCm39) V479A probably damaging Het
Ifnlr1 G A 4: 135,432,877 (GRCm39) V438M probably benign Het
Il12rb1 C A 8: 71,262,483 (GRCm39) P26T probably benign Het
Il4i1 G T 7: 44,489,477 (GRCm39) R414L possibly damaging Het
Ipo4 T C 14: 55,868,327 (GRCm39) N490S probably benign Het
Kcnmb2 A G 3: 32,252,291 (GRCm39) E164G probably damaging Het
Kcns1 G A 2: 164,009,899 (GRCm39) L287F probably benign Het
Kdm1a ACC AC 4: 136,284,732 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Knl1 T A 2: 118,899,211 (GRCm39) I304K probably damaging Het
Ksr2 G T 5: 117,846,175 (GRCm39) V681F probably damaging Het
Lypd2 T C 15: 74,606,127 (GRCm39) T4A probably benign Het
Or12j4 A T 7: 140,046,720 (GRCm39) D202V probably damaging Het
Or13e8 A G 4: 43,696,225 (GRCm39) F316S possibly damaging Het
Or2w2 A T 13: 21,758,042 (GRCm39) C195S probably damaging Het
Or51f5 A T 7: 102,424,315 (GRCm39) R195W probably benign Het
Or56b1b T C 7: 108,164,774 (GRCm39) D76G probably benign Het
Pcdha2 C A 18: 37,072,562 (GRCm39) F64L probably damaging Het
Pgap3 G C 11: 98,281,540 (GRCm39) F168L possibly damaging Het
Pip5k1b T C 19: 24,416,439 (GRCm39) N16S probably benign Het
Ppip5k1 T A 2: 121,167,253 (GRCm39) H41L probably damaging Het
Ppp1r9a A G 6: 5,159,702 (GRCm39) R1080G probably damaging Het
Qrich2 A C 11: 116,336,774 (GRCm39) probably null Het
Rbl2 C T 8: 91,842,447 (GRCm39) P1034L probably damaging Het
Rbpjl GCC GC 2: 164,256,330 (GRCm39) probably null Het
Rin2 A G 2: 145,702,629 (GRCm39) S442G probably damaging Het
Rtca C T 3: 116,293,280 (GRCm39) R71Q probably benign Het
Serpind1 A T 16: 17,157,902 (GRCm39) N366I probably damaging Het
Shox2 C G 3: 66,888,796 (GRCm39) G32R probably damaging Het
Sp3 T A 2: 72,768,466 (GRCm39) N766Y probably damaging Het
Spag7 T A 11: 70,560,059 (GRCm39) S17C probably null Het
Stk25 A T 1: 93,563,031 (GRCm39) F7I probably benign Het
Tbx15 G A 3: 99,259,880 (GRCm39) G584S probably benign Het
Tenm2 T C 11: 36,755,503 (GRCm39) D165G probably benign Het
Tox2 C A 2: 163,046,649 (GRCm39) S42* probably null Het
Vmn1r39 A G 6: 66,781,754 (GRCm39) V188A probably damaging Het
Zbtb5 A T 4: 44,993,941 (GRCm39) M481K probably benign Het
Zfp26 T C 9: 20,355,615 (GRCm39) T56A possibly damaging Het
Zfp459 C A 13: 67,556,498 (GRCm39) C195F probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfp764 A G 7: 127,004,105 (GRCm39) I342T probably benign Het
Zfp942 T C 17: 22,151,985 (GRCm39) N7D probably null Het
Other mutations in Man1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Man1a APN 10 53,853,109 (GRCm39) splice site probably benign
IGL01146:Man1a APN 10 53,783,615 (GRCm39) missense possibly damaging 0.90
IGL01412:Man1a APN 10 53,950,810 (GRCm39) missense probably benign 0.00
IGL02009:Man1a APN 10 53,801,621 (GRCm39) missense probably damaging 1.00
IGL02026:Man1a APN 10 53,890,569 (GRCm39) missense probably damaging 1.00
IGL02745:Man1a APN 10 53,853,206 (GRCm39) missense probably damaging 0.99
IGL02851:Man1a APN 10 53,795,340 (GRCm39) missense probably damaging 1.00
IGL02929:Man1a APN 10 53,801,531 (GRCm39) missense probably benign 0.00
R0046:Man1a UTSW 10 53,795,283 (GRCm39) missense probably damaging 1.00
R0046:Man1a UTSW 10 53,795,283 (GRCm39) missense probably damaging 1.00
R0101:Man1a UTSW 10 53,951,120 (GRCm39) start codon destroyed probably null
R0200:Man1a UTSW 10 53,950,594 (GRCm39) missense probably damaging 0.96
R0463:Man1a UTSW 10 53,950,594 (GRCm39) missense probably damaging 0.96
R0947:Man1a UTSW 10 53,809,619 (GRCm39) nonsense probably null
R1219:Man1a UTSW 10 53,795,249 (GRCm39) splice site probably benign
R1876:Man1a UTSW 10 53,795,268 (GRCm39) missense probably damaging 1.00
R2142:Man1a UTSW 10 53,811,094 (GRCm39) missense probably damaging 1.00
R2219:Man1a UTSW 10 53,853,145 (GRCm39) missense probably damaging 0.99
R3117:Man1a UTSW 10 53,906,890 (GRCm39) missense probably damaging 0.97
R3119:Man1a UTSW 10 53,906,890 (GRCm39) missense probably damaging 0.97
R4727:Man1a UTSW 10 53,783,668 (GRCm39) splice site probably null
R4942:Man1a UTSW 10 53,809,586 (GRCm39) critical splice donor site probably null
R5921:Man1a UTSW 10 53,783,606 (GRCm39) missense probably damaging 0.97
R5965:Man1a UTSW 10 53,809,586 (GRCm39) critical splice donor site probably benign
R6084:Man1a UTSW 10 53,795,307 (GRCm39) missense probably damaging 1.00
R6199:Man1a UTSW 10 53,890,552 (GRCm39) missense possibly damaging 0.70
R6362:Man1a UTSW 10 53,950,891 (GRCm39) missense probably benign 0.25
R6543:Man1a UTSW 10 53,811,077 (GRCm39) nonsense probably null
R6711:Man1a UTSW 10 53,809,588 (GRCm39) missense probably benign 0.00
R6982:Man1a UTSW 10 53,950,819 (GRCm39) missense possibly damaging 0.92
R7061:Man1a UTSW 10 53,796,331 (GRCm39) missense probably damaging 1.00
R7063:Man1a UTSW 10 53,906,840 (GRCm39) missense probably damaging 1.00
R7220:Man1a UTSW 10 53,796,331 (GRCm39) missense possibly damaging 0.95
R7361:Man1a UTSW 10 53,784,105 (GRCm39) missense probably damaging 1.00
R7392:Man1a UTSW 10 53,795,283 (GRCm39) missense probably damaging 1.00
R7566:Man1a UTSW 10 53,795,330 (GRCm39) missense possibly damaging 0.93
R7864:Man1a UTSW 10 53,906,843 (GRCm39) missense possibly damaging 0.88
R8338:Man1a UTSW 10 53,801,643 (GRCm39) critical splice acceptor site probably null
R9294:Man1a UTSW 10 53,809,587 (GRCm39) critical splice donor site probably null
R9590:Man1a UTSW 10 53,784,060 (GRCm39) missense probably damaging 1.00
R9629:Man1a UTSW 10 53,796,158 (GRCm39) missense probably damaging 1.00
Z1176:Man1a UTSW 10 53,795,411 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGTCACTTATCCTGAGGTAG -3'
(R):5'- TAGCCAGGATCCGCGAAAAC -3'

Sequencing Primer
(F):5'- TGGAAGCGATGACTTCCCTC -3'
(R):5'- GAAAACCACGAGCGGGCTC -3'
Posted On 2016-10-05