Incidental Mutation 'R7224:Man1a2'
ID 562004
Institutional Source Beutler Lab
Gene Symbol Man1a2
Ensembl Gene ENSMUSG00000008763
Gene Name mannosidase, alpha, class 1A, member 2
Synonyms Man1b
MMRRC Submission 045296-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7224 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 100469519-100592789 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100489369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 537 (T537A)
Ref Sequence ENSEMBL: ENSMUSP00000008907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008907]
AlphaFold P39098
Predicted Effect possibly damaging
Transcript: ENSMUST00000008907
AA Change: T537A

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: T537A

DomainStartEndE-ValueType
transmembrane domain 37 56 N/A INTRINSIC
coiled coil region 101 153 N/A INTRINSIC
low complexity region 155 170 N/A INTRINSIC
Pfam:Glyco_hydro_47 187 626 2.8e-156 PFAM
Meta Mutation Damage Score 0.1394 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.4%
Validation Efficiency 99% (79/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutation of this gene results in respiratory distress and death within a few hours after birth. Lung development is delayed, the alveolar septum is thickened, and hemorrhage occurs in the alveolar region. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac C T 3: 59,943,275 (GRCm39) T60M probably benign Het
Actn4 C T 7: 28,661,509 (GRCm39) A34T probably benign Het
Acvrl1 A G 15: 101,041,245 (GRCm39) M466V probably benign Het
Adamts7 T C 9: 90,067,868 (GRCm39) Y453H probably damaging Het
Amfr G A 8: 94,711,484 (GRCm39) P351S probably damaging Het
Ankrd26 G A 6: 118,516,688 (GRCm39) T492M probably benign Het
Anxa6 A G 11: 54,876,993 (GRCm39) F547L probably damaging Het
Ap5m1 T G 14: 49,318,384 (GRCm39) Y394D unknown Het
Atic G A 1: 71,610,014 (GRCm39) V342I probably benign Het
Atl1 C A 12: 70,002,127 (GRCm39) T362N probably benign Het
Atp10a A T 7: 58,447,219 (GRCm39) M654L probably benign Het
B3gnt5 A T 16: 19,588,503 (GRCm39) M241L probably benign Het
Bbs7 A G 3: 36,659,877 (GRCm39) V186A possibly damaging Het
Brme1 A G 8: 84,898,842 (GRCm39) T577A probably benign Het
C8b T C 4: 104,637,795 (GRCm39) L89P probably damaging Het
Capn7 G T 14: 31,092,678 (GRCm39) E742* probably null Het
Ccdc162 G A 10: 41,437,187 (GRCm39) R1741C probably damaging Het
Cdhr17 T C 5: 17,041,592 (GRCm39) V615A possibly damaging Het
Chsy3 T A 18: 59,542,047 (GRCm39) L395H probably damaging Het
Cnot9 A G 1: 74,556,388 (GRCm39) T62A probably benign Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Cyp2d12 T A 15: 82,441,849 (GRCm39) probably null Het
Dnah7a A G 1: 53,436,420 (GRCm39) V3974A probably benign Het
Dync1h1 G A 12: 110,584,196 (GRCm39) G533D possibly damaging Het
Eddm13 T G 7: 6,271,801 (GRCm39) M77R probably benign Het
Elfn1 A G 5: 139,958,228 (GRCm39) S411G probably benign Het
Enpp3 T C 10: 24,652,782 (GRCm39) D725G possibly damaging Het
Fmnl1 T C 11: 103,073,595 (GRCm39) probably null Het
Fndc8 T C 11: 82,783,151 (GRCm39) M44T probably benign Het
Gcgr A T 11: 120,425,538 (GRCm39) probably benign Het
Ggt1 T A 10: 75,410,110 (GRCm39) V14D possibly damaging Het
Gigyf2 A G 1: 87,331,447 (GRCm39) I198M unknown Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm6034 T A 17: 36,367,331 (GRCm39) S59T unknown Het
Gm6408 G A 5: 146,421,180 (GRCm39) V270I probably benign Het
Gpr20 A T 15: 73,567,981 (GRCm39) I136N probably damaging Het
Ide T C 19: 37,268,160 (GRCm39) E565G Het
Igsf9 T C 1: 172,322,349 (GRCm39) S515P probably damaging Het
Kbtbd12 G A 6: 88,590,965 (GRCm39) R416* probably null Het
Kcnd3 A T 3: 105,576,400 (GRCm39) I615F probably damaging Het
Kcnk7 A T 19: 5,756,805 (GRCm39) M265L probably benign Het
Klhdc1 G A 12: 69,309,923 (GRCm39) S275N probably damaging Het
Ldc1 C G 4: 130,112,992 (GRCm39) A135P probably damaging Het
Lrba A C 3: 86,302,553 (GRCm39) N1871T probably damaging Het
Lrrk1 A G 7: 65,982,134 (GRCm39) V169A probably damaging Het
Magi1 A G 6: 93,660,070 (GRCm39) I1175T probably benign Het
Mrpl17 T C 7: 105,459,209 (GRCm39) N129S probably damaging Het
Mup5 G A 4: 61,750,622 (GRCm39) R174C probably damaging Het
Ndufaf1 G A 2: 119,488,877 (GRCm39) R216C probably damaging Het
Neb T C 2: 52,224,671 (GRCm39) probably null Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or52m2 A T 7: 102,263,974 (GRCm39) M74K probably damaging Het
Or5a1 T C 19: 12,097,912 (GRCm39) T55A probably benign Het
Or8b12b G A 9: 37,684,711 (GRCm39) G252D possibly damaging Het
Osbpl8 C T 10: 111,110,872 (GRCm39) P458L possibly damaging Het
Pcdh20 T C 14: 88,706,511 (GRCm39) E263G possibly damaging Het
Pkd1l1 A G 11: 8,895,241 (GRCm39) L623P Het
Plxdc1 T C 11: 97,823,153 (GRCm39) T363A possibly damaging Het
Pole3 T C 4: 62,442,287 (GRCm39) D111G unknown Het
R3hdm2 T A 10: 127,294,022 (GRCm39) L172Q probably damaging Het
Rbm33 T C 5: 28,599,322 (GRCm39) V90A Het
Rcbtb1 C G 14: 59,465,828 (GRCm39) I390M probably damaging Het
Romo1 G A 2: 155,986,295 (GRCm39) probably benign Het
Sars1 A G 3: 108,335,519 (GRCm39) Y410H probably damaging Het
Sesn2 T C 4: 132,224,724 (GRCm39) T327A probably benign Het
Slc30a5 A G 13: 100,945,762 (GRCm39) V530A probably damaging Het
Slc30a9 G A 5: 67,473,044 (GRCm39) E43K probably benign Het
Slc38a2 A C 15: 96,589,240 (GRCm39) L418W probably damaging Het
Snx14 T C 9: 88,276,614 (GRCm39) E557G possibly damaging Het
Spata33 T A 8: 123,948,737 (GRCm39) I123K probably damaging Het
Tdrd3 A T 14: 87,714,839 (GRCm39) H170L probably damaging Het
Trpm1 A G 7: 63,868,854 (GRCm39) probably null Het
Tsr3 A T 17: 25,461,569 (GRCm39) E302D probably benign Het
Ttll11 A G 2: 35,792,685 (GRCm39) I386T probably damaging Het
Usp2 C T 9: 43,987,266 (GRCm39) T188M possibly damaging Het
Usp44 A G 10: 93,681,855 (GRCm39) I102V probably benign Het
Wasf1 A G 10: 40,802,546 (GRCm39) N67S probably benign Het
Zfp445 T C 9: 122,681,208 (GRCm39) N911S probably benign Het
Zfp467 A G 6: 48,421,903 (GRCm39) probably null Het
Other mutations in Man1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01987:Man1a2 APN 3 100,551,873 (GRCm39) missense probably damaging 1.00
IGL02009:Man1a2 APN 3 100,591,978 (GRCm39) missense probably damaging 0.99
IGL02097:Man1a2 APN 3 100,489,447 (GRCm39) missense possibly damaging 0.68
IGL02395:Man1a2 APN 3 100,551,853 (GRCm39) splice site probably null
IGL02441:Man1a2 APN 3 100,499,189 (GRCm39) missense probably benign 0.01
R0043:Man1a2 UTSW 3 100,495,196 (GRCm39) missense probably damaging 1.00
R0064:Man1a2 UTSW 3 100,499,199 (GRCm39) missense possibly damaging 0.95
R0217:Man1a2 UTSW 3 100,524,353 (GRCm39) missense possibly damaging 0.61
R0266:Man1a2 UTSW 3 100,489,350 (GRCm39) missense probably damaging 1.00
R0284:Man1a2 UTSW 3 100,592,102 (GRCm39) missense probably damaging 0.98
R0633:Man1a2 UTSW 3 100,591,891 (GRCm39) missense possibly damaging 0.80
R1074:Man1a2 UTSW 3 100,563,402 (GRCm39) missense possibly damaging 0.68
R2167:Man1a2 UTSW 3 100,499,216 (GRCm39) missense probably damaging 1.00
R2177:Man1a2 UTSW 3 100,539,847 (GRCm39) missense probably damaging 1.00
R3822:Man1a2 UTSW 3 100,539,913 (GRCm39) missense possibly damaging 0.48
R4361:Man1a2 UTSW 3 100,563,358 (GRCm39) missense probably benign
R4652:Man1a2 UTSW 3 100,539,877 (GRCm39) missense probably damaging 1.00
R4871:Man1a2 UTSW 3 100,524,372 (GRCm39) missense probably damaging 1.00
R5153:Man1a2 UTSW 3 100,563,579 (GRCm39) missense probably damaging 1.00
R5182:Man1a2 UTSW 3 100,554,333 (GRCm39) missense probably damaging 0.99
R5201:Man1a2 UTSW 3 100,524,328 (GRCm39) missense probably benign
R5251:Man1a2 UTSW 3 100,527,415 (GRCm39) missense probably damaging 1.00
R6135:Man1a2 UTSW 3 100,592,248 (GRCm39) start gained probably benign
R6793:Man1a2 UTSW 3 100,539,913 (GRCm39) missense possibly damaging 0.48
R6886:Man1a2 UTSW 3 100,563,387 (GRCm39) missense probably benign 0.00
R7209:Man1a2 UTSW 3 100,554,395 (GRCm39) missense unknown
R7308:Man1a2 UTSW 3 100,527,421 (GRCm39) missense probably damaging 1.00
R7815:Man1a2 UTSW 3 100,563,495 (GRCm39) missense probably damaging 0.99
R7826:Man1a2 UTSW 3 100,489,455 (GRCm39) missense probably damaging 1.00
R8427:Man1a2 UTSW 3 100,592,001 (GRCm39) missense probably benign 0.18
R9621:Man1a2 UTSW 3 100,591,961 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- AAATGAGAACAGTTTCTGCACC -3'
(R):5'- TACCCCTTCCTTTTAGAAAGAACAG -3'

Sequencing Primer
(F):5'- GTTTCTGCACCAGAGAAATCAAAGTG -3'
(R):5'- TAGGTCCGGAGTCATTCA -3'
Posted On 2019-06-26