Incidental Mutation 'R5970:Man2a1'
ID 470831
Institutional Source Beutler Lab
Gene Symbol Man2a1
Ensembl Gene ENSMUSG00000024085
Gene Name mannosidase 2, alpha 1
Synonyms Map-2, Mana-2, Mana2
MMRRC Submission 044153-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.876) question?
Stock # R5970 (G1)
Quality Score 225
Status 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: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (63/64)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l1 G A 6: 90,574,028 (GRCm39) probably benign Het
Ambn T C 5: 88,615,810 (GRCm39) V413A possibly damaging Het
Amotl1 T A 9: 14,507,824 (GRCm39) D41V probably damaging Het
Arhgef26 T C 3: 62,247,468 (GRCm39) V184A probably benign Het
Birc6 G T 17: 74,925,497 (GRCm39) G936V possibly damaging Het
Ccser1 T A 6: 61,288,226 (GRCm39) S130T possibly damaging Het
Cecr2 A G 6: 120,697,868 (GRCm39) I56V probably damaging Het
Cfap52 A G 11: 67,821,570 (GRCm39) I486T probably damaging Het
Col4a3 A G 1: 82,694,050 (GRCm39) I1557V possibly damaging Het
Col6a5 T A 9: 105,823,046 (GRCm39) I104F unknown Het
Cry2 A G 2: 92,243,312 (GRCm39) S510P probably benign Het
Csmd2 G C 4: 128,439,944 (GRCm39) A3133P probably benign Het
Cyld G T 8: 89,459,621 (GRCm39) A611S probably damaging Het
Dennd4c G A 4: 86,743,749 (GRCm39) G1197E probably damaging Het
Dnah10 T C 5: 124,885,793 (GRCm39) F2969L probably benign Het
Dnai1 A G 4: 41,625,281 (GRCm39) K415R probably benign Het
Dnmbp T A 19: 43,842,610 (GRCm39) T1253S probably benign Het
Dsp T C 13: 38,379,678 (GRCm39) L1542P possibly damaging Het
Duox1 T A 2: 122,170,682 (GRCm39) L1234Q probably damaging Het
Efr3b T A 12: 4,018,590 (GRCm39) R585S possibly damaging Het
Gpt A G 15: 76,583,552 (GRCm39) probably null Het
Heatr6 G A 11: 83,644,544 (GRCm39) probably benign Het
Kcns2 A G 15: 34,839,930 (GRCm39) D431G probably benign Het
Kdm3b A G 18: 34,962,342 (GRCm39) N1543D probably damaging Het
Mical3 G A 6: 120,935,232 (GRCm39) Q893* probably null Het
Morc3 C T 16: 93,663,341 (GRCm39) H515Y possibly damaging Het
Mprip A T 11: 59,648,547 (GRCm39) R750S probably damaging Het
Mroh1 G A 15: 76,335,691 (GRCm39) V1436M probably benign Het
Muc5ac C T 7: 141,344,406 (GRCm39) R69* probably null Het
Muc5b A T 7: 141,410,449 (GRCm39) Y1274F unknown Het
Mybpc1 A G 10: 88,378,318 (GRCm39) L674P probably damaging Het
Mypn A G 10: 62,966,802 (GRCm39) V958A probably benign Het
Nipbl T C 15: 8,326,302 (GRCm39) T2436A probably benign Het
Or7g20 A G 9: 18,946,443 (GRCm39) D8G probably benign Het
Pcdhb5 T A 18: 37,454,826 (GRCm39) L402Q probably damaging Het
Pigp T A 16: 94,171,053 (GRCm39) probably null Het
Rp1 A G 1: 4,418,685 (GRCm39) L809P probably benign Het
Scn3a T A 2: 65,325,125 (GRCm39) probably benign Het
Sdf2 A T 11: 78,136,906 (GRCm39) M29L probably benign Het
Serpina3b T G 12: 104,100,350 (GRCm39) L311V possibly damaging Het
Snx31 A T 15: 36,523,634 (GRCm39) Y349* probably null Het
Spidr A C 16: 15,932,733 (GRCm39) C182W probably damaging Het
St13 A T 15: 81,261,999 (GRCm39) S146R probably damaging Het
St8sia4 A G 1: 95,581,307 (GRCm39) V145A probably damaging Het
Stradb T C 1: 59,019,175 (GRCm39) probably null Het
Tcp11l2 T A 10: 84,430,661 (GRCm39) probably benign Het
Tfdp2 C T 9: 96,199,627 (GRCm39) P74S unknown Het
Tmprss15 C T 16: 78,854,547 (GRCm39) R287H probably benign Het
Trav10d T C 14: 53,048,779 (GRCm39) Y57H probably damaging Het
Vmn2r104 A G 17: 20,249,733 (GRCm39) I846T probably benign Het
Ywhah T A 5: 33,184,292 (GRCm39) M165K possibly damaging Het
Zfp324 C A 7: 12,703,293 (GRCm39) P72T 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
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
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'- TCATGGTGAAGTCTGAGAGGC -3'

Sequencing Primer
(F):5'- GCCTTTGGCCTAAAAAGTTTCCATTG -3'
(R):5'- TGAAGTCTGAGAGGCATGGGC -3'
Posted On 2017-03-31