Incidental Mutation 'R5943:Man2a1'
ID 460451
Institutional Source Beutler Lab
Gene Symbol Man2a1
Ensembl Gene ENSMUSG00000024085
Gene Name mannosidase 2, alpha 1
Synonyms Map-2, Mana-2, Mana2
MMRRC Submission 044135-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R5943 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 64907731-65062105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64932375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 154 (K154R)
Ref Sequence ENSEMBL: ENSMUSP00000083928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086723]
AlphaFold P27046
Predicted Effect probably benign
Transcript: ENSMUST00000086723
AA Change: K154R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: K154R

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
coiled coil region 45 74 N/A INTRINSIC
Pfam:Glyco_hydro_38 166 496 2.3e-111 PFAM
Alpha-mann_mid 501 587 5.39e-34 SMART
Pfam:Glyco_hydro_38C 648 1144 1.5e-98 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous mutation of this gene results in premature death, dyserythropoiesis, systemic autoimmune disease, including an increase in serum immunoglobulins, glomerulonephritis, and hematuria, [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C A 17: 45,828,637 (GRCm39) Q671K probably benign Het
Acaa2 A G 18: 74,925,453 (GRCm39) H72R probably damaging Het
Acad8 A G 9: 26,910,740 (GRCm39) L18P probably benign Het
Acap3 T C 4: 155,983,879 (GRCm39) V115A possibly damaging Het
Adamts9 T C 6: 92,880,767 (GRCm39) T503A probably benign Het
Adcy1 T C 11: 7,111,337 (GRCm39) F876S probably damaging Het
Adgrv1 T C 13: 81,534,985 (GRCm39) E5760G probably damaging Het
Ankrd26 A T 6: 118,482,707 (GRCm39) I1631K probably damaging Het
Ccdc150 A G 1: 54,339,526 (GRCm39) T457A probably benign Het
Cd163 T C 6: 124,306,561 (GRCm39) *1160R probably null Het
Cdc6 T C 11: 98,811,589 (GRCm39) S517P probably damaging Het
Cenpf A T 1: 189,392,166 (GRCm39) D555E possibly damaging Het
Cfap251 A G 5: 123,424,420 (GRCm39) T205A probably benign Het
Clcn1 T A 6: 42,269,900 (GRCm39) I241N probably damaging Het
Clrn2 A T 5: 45,621,061 (GRCm39) I152F probably benign Het
Col4a4 A G 1: 82,502,737 (GRCm39) I349T unknown Het
Coq8b T A 7: 26,933,428 (GRCm39) F96L probably damaging Het
Cp A T 3: 20,018,470 (GRCm39) N58I probably benign Het
Dcst1 A T 3: 89,263,718 (GRCm39) probably null Het
Dhrs3 A T 4: 144,646,546 (GRCm39) M199L possibly damaging Het
Dido1 A T 2: 180,303,675 (GRCm39) S1410T probably benign Het
Dnase1l2 C T 17: 24,661,721 (GRCm39) A13T probably damaging Het
Duox1 G A 2: 122,163,916 (GRCm39) R861Q probably benign Het
Eya2 A G 2: 165,566,609 (GRCm39) H220R probably damaging Het
Fas T G 19: 34,297,987 (GRCm39) probably null Het
Fezf1 T A 6: 23,246,948 (GRCm39) K295* probably null Het
Gldn T G 9: 54,245,721 (GRCm39) I424R possibly damaging Het
Gnptab T C 10: 88,269,376 (GRCm39) V693A probably benign Het
Gsdma A T 11: 98,563,852 (GRCm39) T269S probably benign Het
Hectd4 A T 5: 121,460,357 (GRCm39) T2209S probably benign Het
Hoxd3 A G 2: 74,577,173 (GRCm39) N351S probably benign Het
Itpkc T A 7: 26,912,404 (GRCm39) N581I possibly damaging Het
Kank3 G T 17: 34,037,375 (GRCm39) E226D probably damaging Het
Krtap5-1 A G 7: 141,850,788 (GRCm39) S7P unknown Het
Lrriq3 A G 3: 154,869,587 (GRCm39) Y304C probably damaging Het
Mdn1 T C 4: 32,678,330 (GRCm39) S653P probably damaging Het
Mri1 A T 8: 84,980,948 (GRCm39) L194* probably null Het
Mtus1 T C 8: 41,537,302 (GRCm39) E138G probably benign Het
Myo3b G A 2: 70,117,285 (GRCm39) R906Q probably benign Het
Nckipsd C T 9: 108,689,435 (GRCm39) P199S possibly damaging Het
Or52n5 T A 7: 104,587,850 (GRCm39) I39N possibly damaging Het
Or9i16 C T 19: 13,865,116 (GRCm39) V153I possibly damaging Het
Pacsin1 T C 17: 27,925,045 (GRCm39) L253P probably damaging Het
Pcca T A 14: 122,896,188 (GRCm39) I268N probably damaging Het
Pcdhga8 A G 18: 37,949,565 (GRCm39) D327G probably damaging Het
Pcnx4 A G 12: 72,626,232 (GRCm39) H1146R probably damaging Het
Pnma8b T C 7: 16,680,362 (GRCm39) S449P probably benign Het
Psmb9 T C 17: 34,403,265 (GRCm39) E61G probably damaging Het
Pxylp1 A G 9: 96,721,203 (GRCm39) Y101H probably damaging Het
Radil A G 5: 142,471,213 (GRCm39) I1044T probably damaging Het
Rnf43 G A 11: 87,622,561 (GRCm39) R554H probably damaging Het
Sp5 A T 2: 70,305,659 (GRCm39) Q17L probably null Het
Spmip1 T A 6: 29,471,908 (GRCm39) L128Q possibly damaging Het
Strn C A 17: 78,977,276 (GRCm39) V211F probably damaging Het
Sult3a1 A G 10: 33,742,637 (GRCm39) D88G probably damaging Het
Trim14 T C 4: 46,522,136 (GRCm39) I180M probably benign Het
Tsnax C A 8: 125,751,278 (GRCm39) S90* probably null Het
Ttn A G 2: 76,798,780 (GRCm39) M498T probably benign Het
Vmn1r198 T A 13: 22,539,367 (GRCm39) Y195* probably null Het
Vmn2r70 T C 7: 85,215,199 (GRCm39) T112A probably benign Het
Wwc2 T C 8: 48,443,137 (GRCm39) N32S possibly damaging Het
Yme1l1 G T 2: 23,058,342 (GRCm39) R158L probably damaging Het
Zc2hc1c C A 12: 85,336,483 (GRCm39) H47N probably damaging Het
Zc3h10 C A 10: 128,381,396 (GRCm39) probably benign Het
Zfp825 T C 13: 74,629,007 (GRCm39) R170G probably benign Het
Other mutations in Man2a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01390:Man2a1 APN 17 65,017,700 (GRCm39) missense probably benign 0.00
IGL01823:Man2a1 APN 17 64,973,819 (GRCm39) missense probably damaging 0.99
IGL02012:Man2a1 APN 17 64,973,894 (GRCm39) missense probably damaging 0.98
IGL02589:Man2a1 APN 17 64,986,773 (GRCm39) missense probably benign 0.01
IGL03248:Man2a1 APN 17 65,020,606 (GRCm39) missense probably damaging 1.00
R0070:Man2a1 UTSW 17 64,966,074 (GRCm39) splice site probably null
R0092:Man2a1 UTSW 17 64,966,079 (GRCm39) splice site probably benign
R1347:Man2a1 UTSW 17 65,019,445 (GRCm39) missense probably damaging 0.98
R1347:Man2a1 UTSW 17 65,019,445 (GRCm39) missense probably damaging 0.98
R1376:Man2a1 UTSW 17 64,979,038 (GRCm39) missense possibly damaging 0.50
R1376:Man2a1 UTSW 17 64,979,038 (GRCm39) missense possibly damaging 0.50
R1599:Man2a1 UTSW 17 64,986,826 (GRCm39) missense possibly damaging 0.80
R1799:Man2a1 UTSW 17 65,059,452 (GRCm39) missense probably benign 0.12
R1799:Man2a1 UTSW 17 64,976,492 (GRCm39) missense probably damaging 1.00
R1822:Man2a1 UTSW 17 65,047,837 (GRCm39) missense probably damaging 1.00
R1958:Man2a1 UTSW 17 65,057,830 (GRCm39) missense probably benign 0.00
R2852:Man2a1 UTSW 17 65,020,596 (GRCm39) missense probably benign 0.00
R4324:Man2a1 UTSW 17 64,973,788 (GRCm39) missense probably benign 0.00
R4582:Man2a1 UTSW 17 65,059,494 (GRCm39) missense probably benign 0.00
R4610:Man2a1 UTSW 17 65,019,454 (GRCm39) missense probably benign
R4803:Man2a1 UTSW 17 64,966,004 (GRCm39) missense probably damaging 1.00
R5072:Man2a1 UTSW 17 64,966,074 (GRCm39) splice site probably null
R5109:Man2a1 UTSW 17 65,059,443 (GRCm39) missense probably benign 0.31
R5223:Man2a1 UTSW 17 65,019,266 (GRCm39) missense probably benign 0.17
R5229:Man2a1 UTSW 17 65,017,729 (GRCm39) missense probably benign 0.00
R5238:Man2a1 UTSW 17 64,943,502 (GRCm39) missense probably damaging 1.00
R5273:Man2a1 UTSW 17 65,040,780 (GRCm39) missense probably damaging 1.00
R5289:Man2a1 UTSW 17 64,958,222 (GRCm39) missense probably damaging 0.99
R5352:Man2a1 UTSW 17 65,038,241 (GRCm39) missense probably damaging 1.00
R5428:Man2a1 UTSW 17 65,019,295 (GRCm39) missense probably benign 0.00
R5898:Man2a1 UTSW 17 64,932,375 (GRCm39) missense probably benign 0.01
R5942:Man2a1 UTSW 17 64,932,375 (GRCm39) missense probably benign 0.01
R5963:Man2a1 UTSW 17 64,982,117 (GRCm39) missense probably benign
R5969:Man2a1 UTSW 17 64,932,375 (GRCm39) missense probably benign 0.01
R5970:Man2a1 UTSW 17 64,932,375 (GRCm39) missense probably benign 0.01
R6164:Man2a1 UTSW 17 65,040,719 (GRCm39) missense possibly damaging 0.87
R6207:Man2a1 UTSW 17 65,020,600 (GRCm39) missense probably benign 0.02
R6245:Man2a1 UTSW 17 65,017,821 (GRCm39) missense probably damaging 0.97
R6724:Man2a1 UTSW 17 65,038,264 (GRCm39) missense possibly damaging 0.91
R6759:Man2a1 UTSW 17 64,932,383 (GRCm39) missense probably benign 0.00
R6778:Man2a1 UTSW 17 65,021,630 (GRCm39) missense possibly damaging 0.69
R7250:Man2a1 UTSW 17 64,943,583 (GRCm39) missense probably benign 0.00
R7354:Man2a1 UTSW 17 65,059,539 (GRCm39) missense probably damaging 1.00
R7833:Man2a1 UTSW 17 64,973,746 (GRCm39) missense probably damaging 0.99
R7991:Man2a1 UTSW 17 64,908,771 (GRCm39) missense probably benign 0.28
R8489:Man2a1 UTSW 17 64,908,765 (GRCm39) missense possibly damaging 0.64
R8540:Man2a1 UTSW 17 64,965,982 (GRCm39) missense probably benign
R8894:Man2a1 UTSW 17 65,020,596 (GRCm39) missense probably benign 0.00
R9447:Man2a1 UTSW 17 64,966,001 (GRCm39) missense possibly damaging 0.88
R9488:Man2a1 UTSW 17 65,040,734 (GRCm39) missense possibly damaging 0.80
R9526:Man2a1 UTSW 17 64,958,310 (GRCm39) missense probably benign 0.23
R9608:Man2a1 UTSW 17 65,041,953 (GRCm39) missense probably damaging 1.00
R9666:Man2a1 UTSW 17 64,943,557 (GRCm39) missense possibly damaging 0.78
RF007:Man2a1 UTSW 17 65,019,248 (GRCm39) missense probably damaging 0.98
Z1177:Man2a1 UTSW 17 65,042,049 (GRCm39) missense probably benign
Z1177:Man2a1 UTSW 17 64,966,015 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCTTTGAGTGATTATCAAATGCC -3'
(R):5'- CATGGTGAAGTCTGAGAGGC -3'

Sequencing Primer
(F):5'- GCCTTTGGCCTAAAAAGTTTCCATTG -3'
(R):5'- TGAAGTCTGAGAGGCATGGGC -3'
Posted On 2017-02-28