Incidental Mutation 'R6759:Man2a1'
ID 531168
Institutional Source Beutler Lab
Gene Symbol Man2a1
Ensembl Gene ENSMUSG00000024085
Gene Name mannosidase 2, alpha 1
Synonyms Map-2, Mana-2, Mana2
MMRRC Submission 044875-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R6759 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 64907731-65062105 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 64932383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 157 (A157T)
Ref Sequence ENSEMBL: ENSMUSP00000083928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086723]
AlphaFold P27046
Predicted Effect probably benign
Transcript: ENSMUST00000086723
AA Change: A157T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000083928
Gene: ENSMUSG00000024085
AA Change: A157T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 98% (49/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,331,692 (GRCm39) S841G probably benign Het
4933427I04Rik G T 4: 123,753,879 (GRCm39) probably benign Het
Aak1 A G 6: 86,921,399 (GRCm39) T199A probably damaging Het
Acnat2 C A 4: 49,380,254 (GRCm39) V375L probably benign Het
Aldh1a7 T C 19: 20,677,320 (GRCm39) T434A possibly damaging Het
Aldh3a2 T C 11: 61,156,088 (GRCm39) T63A probably benign Het
Anxa2 T C 9: 69,391,103 (GRCm39) S97P probably damaging Het
Apip T C 2: 102,922,191 (GRCm39) S186P probably benign Het
Apob A G 12: 8,061,049 (GRCm39) K3177R probably benign Het
Atm C T 9: 53,429,859 (GRCm39) W392* probably null Het
Atp8b1 T A 18: 64,679,161 (GRCm39) R773S probably benign Het
Bicdl2 T A 17: 23,885,718 (GRCm39) probably null Het
Bltp1 C T 3: 37,042,234 (GRCm39) T2740I possibly damaging Het
Cacng3 G A 7: 122,361,547 (GRCm39) probably null Het
Clca3a1 G T 3: 144,455,450 (GRCm39) L448M probably damaging Het
Clk4 A G 11: 51,166,401 (GRCm39) I94M possibly damaging Het
Cnot3 G T 7: 3,654,918 (GRCm39) V124F probably damaging Het
Cyp4a30b C T 4: 115,318,571 (GRCm39) A426V probably benign Het
Dact1 T A 12: 71,364,911 (GRCm39) L564* probably null Het
Dnah8 T A 17: 30,882,266 (GRCm39) probably null Het
Dock5 T A 14: 68,033,445 (GRCm39) T975S probably benign Het
Dock8 C A 19: 25,104,848 (GRCm39) H739Q probably damaging Het
Efr3b T A 12: 4,034,613 (GRCm39) N186Y probably damaging Het
Enam G A 5: 88,649,550 (GRCm39) G278D probably damaging Het
Fgl2 A G 5: 21,578,256 (GRCm39) D181G probably benign Het
Gfra3 G T 18: 34,828,926 (GRCm39) S156* probably null Het
Jam3 G C 9: 27,013,276 (GRCm39) T98S probably benign Het
Ltbp2 A T 12: 84,834,184 (GRCm39) I1435N probably damaging Het
Mcm3ap T A 10: 76,337,148 (GRCm39) V1361E probably benign Het
Nobox A T 6: 43,284,538 (GRCm39) L36Q possibly damaging Het
Or2ag12 T A 7: 106,277,100 (GRCm39) M198L probably benign Het
Or51a10 A G 7: 103,699,334 (GRCm39) S76P probably damaging Het
Parp4 G A 14: 56,857,947 (GRCm39) V860I probably benign Het
Pim3 T A 15: 88,747,296 (GRCm39) probably null Het
Ptpn13 A T 5: 103,713,121 (GRCm39) N1748I possibly damaging Het
Rad51ap2 A G 12: 11,507,145 (GRCm39) T356A possibly damaging Het
Ranbp2 C T 10: 58,293,559 (GRCm39) R310* probably null Het
Rassf5 C T 1: 131,109,988 (GRCm39) V190I probably benign Het
Rgl1 T G 1: 152,409,281 (GRCm39) Q481P probably damaging Het
Rrp1b A G 17: 32,276,063 (GRCm39) T537A probably benign Het
Smok3c T A 5: 138,063,699 (GRCm39) S395R probably benign Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Strn4 A T 7: 16,556,978 (GRCm39) E145V probably damaging Het
Tex21 T A 12: 76,251,086 (GRCm39) probably null Het
Usp37 G A 1: 74,534,908 (GRCm39) R13* probably null Het
Uty G T Y: 1,174,735 (GRCm39) L222I probably damaging Homo
Wwp2 A G 8: 108,267,314 (GRCm39) T309A probably damaging Het
Zfp40 C T 17: 23,395,510 (GRCm39) R359H possibly damaging 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
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
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'- AGCCTTTGAGTGATTATCAAATGCC -3'
(R):5'- ACTACATCATGGTGAAGTCTGAG -3'

Sequencing Primer
(F):5'- GCCTTTGGCCTAAAAAGTTTCCATTG -3'
(R):5'- TCATGGTGAAGTCTGAGAGGCATG -3'
Posted On 2018-08-01