Incidental Mutation 'R4582:Man2a1'
ID 343759
Institutional Source Beutler Lab
Gene Symbol Man2a1
Ensembl Gene ENSMUSG00000024085
Gene Name mannosidase 2, alpha 1
Synonyms Map-2, Mana-2, Mana2
MMRRC Submission 041803-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R4582 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 64907731-65062105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65059494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 1127 (A1127V)
Ref Sequence ENSEMBL: ENSMUSP00000083928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086723] [ENSMUST00000169668]
AlphaFold P27046
Predicted Effect probably benign
Transcript: ENSMUST00000086723
AA Change: A1127V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: A1127V

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
Predicted Effect probably benign
Transcript: ENSMUST00000169668
SMART Domains Protein: ENSMUSP00000130529
Gene: ENSMUSG00000024085

DomainStartEndE-ValueType
Pfam:Glyco_hydro_38C 1 268 1.6e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170636
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abra A T 15: 41,732,681 (GRCm39) D128E probably benign Het
Akap11 A T 14: 78,749,369 (GRCm39) V1006E possibly damaging Het
Ankrd7 T A 6: 18,868,020 (GRCm39) N95K probably damaging Het
Brd9 T C 13: 74,095,852 (GRCm39) F366L probably benign Het
Brinp2 A G 1: 158,095,508 (GRCm39) F118L probably damaging Het
Ccdc138 T C 10: 58,343,465 (GRCm39) probably null Het
Celsr3 T C 9: 108,722,922 (GRCm39) F189L probably damaging Het
Cfap45 A G 1: 172,357,479 (GRCm39) T36A probably benign Het
Clec4a1 G T 6: 122,909,150 (GRCm39) V173L possibly damaging Het
Col6a5 G A 9: 105,739,963 (GRCm39) T2552I probably benign Het
Dcaf15 A G 8: 84,824,598 (GRCm39) V533A probably damaging Het
Dhrs9 A T 2: 69,227,997 (GRCm39) I204F probably damaging Het
Dock7 A G 4: 98,892,153 (GRCm39) V811A possibly damaging Het
Eef1akmt1 T C 14: 57,787,905 (GRCm39) D151G probably damaging Het
Eif4g3 G A 4: 137,898,556 (GRCm39) R1109H probably damaging Het
Gtpbp10 T C 5: 5,592,395 (GRCm39) T191A possibly damaging Het
Hectd4 A G 5: 121,424,482 (GRCm39) N714S possibly damaging Het
Lima1 T C 15: 99,678,873 (GRCm39) T523A possibly damaging Het
Lipe A G 7: 25,097,127 (GRCm39) L272P probably benign Het
Llgl2 A G 11: 115,741,532 (GRCm39) E554G possibly damaging Het
Lrrc66 T C 5: 73,765,580 (GRCm39) S488G possibly damaging Het
Naglu A T 11: 100,962,755 (GRCm39) I187F probably damaging Het
Nt5c1b T A 12: 10,440,054 (GRCm39) M548K probably damaging Het
Or10ak14 A T 4: 118,611,090 (GRCm39) I217N probably damaging Het
Or6c38 A T 10: 128,929,027 (GRCm39) V272E possibly damaging Het
Pcdha3 T C 18: 37,080,485 (GRCm39) V409A probably benign Het
Pde6b A T 5: 108,573,097 (GRCm39) probably null Het
Pkd2 A T 5: 104,650,210 (GRCm39) K857* probably null Het
Rfx4 T A 10: 84,680,164 (GRCm39) S114T possibly damaging Het
Sacs G A 14: 61,429,147 (GRCm39) G402D probably damaging Het
Slc22a5 C T 11: 53,782,035 (GRCm39) E111K probably damaging Het
Sptbn1 G A 11: 30,169,597 (GRCm39) R44C probably damaging Het
Taf1 T C X: 100,637,601 (GRCm39) V1696A possibly damaging Het
Tm9sf3 C A 19: 41,244,605 (GRCm39) G91C probably damaging Het
Tmie T G 9: 110,702,865 (GRCm39) E32A probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tsga13 A T 6: 30,879,298 (GRCm39) N138K probably benign Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Ugt1a10 A T 1: 87,983,463 (GRCm39) D87V possibly damaging Het
Vdac3-ps1 A T 13: 18,206,177 (GRCm39) noncoding transcript Het
Vmn1r29 A C 6: 58,285,017 (GRCm39) I246L probably damaging Het
Zbtb16 A G 9: 48,743,382 (GRCm39) V310A 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
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
R5943: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'- TCCCCTTCATGTTCTCAAAAGG -3'
(R):5'- TGTTCTCACAGTAGCCAGAAG -3'

Sequencing Primer
(F):5'- GTTTATAGATGTGCTAGGAGTCTCCC -3'
(R):5'- CCAGAAGCTAAAGTAATGTGCTTAG -3'
Posted On 2015-09-24