Incidental Mutation 'R3822:Man1a2'
ID 275219
Institutional Source Beutler Lab
Gene Symbol Man1a2
Ensembl Gene ENSMUSG00000008763
Gene Name mannosidase, alpha, class 1A, member 2
Synonyms Man1b
MMRRC Submission 040884-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3822 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 100469519-100592789 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100539913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 176 (I176T)
Ref Sequence ENSEMBL: ENSMUSP00000116489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008907] [ENSMUST00000130066]
AlphaFold P39098
Predicted Effect probably benign
Transcript: ENSMUST00000008907
AA Change: I286T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: I286T

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000130066
AA Change: I176T

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116489
Gene: ENSMUSG00000008763
AA Change: I176T

DomainStartEndE-ValueType
coiled coil region 18 70 N/A INTRINSIC
low complexity region 72 87 N/A INTRINSIC
Pfam:Glyco_hydro_47 104 179 1.2e-23 PFAM
Pfam:Glyco_hydro_47 174 246 1.1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200265
Meta Mutation Damage Score 0.1677 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (34/34)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 T A 11: 101,301,971 (GRCm39) I332F probably damaging Het
Acp3 G T 9: 104,201,916 (GRCm39) Q76K probably damaging Het
Anp32e A T 3: 95,842,181 (GRCm39) I100L probably benign Het
Ccdc13 C A 9: 121,660,085 (GRCm39) L76F probably damaging Het
Cd44 T C 2: 102,731,738 (GRCm39) probably null Het
Chka A G 19: 3,932,038 (GRCm39) probably benign Het
Cnot6 A T 11: 49,579,999 (GRCm39) S98T probably benign Het
Cth A G 3: 157,624,136 (GRCm39) F127S probably benign Het
Dnah9 C A 11: 65,741,829 (GRCm39) probably null Het
Dysf T C 6: 84,184,070 (GRCm39) probably benign Het
Flad1 T A 3: 89,318,494 (GRCm39) I20F probably damaging Het
Gm20730 C T 6: 43,058,656 (GRCm39) S52N probably benign Het
Gpr89 A G 3: 96,800,260 (GRCm39) S113P probably benign Het
Herpud2 G A 9: 25,036,220 (GRCm39) Q147* probably null Het
Hivep1 A T 13: 42,337,787 (GRCm39) H2622L possibly damaging Het
Hlcs T C 16: 94,068,840 (GRCm39) N274D probably benign Het
Ido2 T C 8: 25,023,771 (GRCm39) I356V probably benign Het
Insyn2b T C 11: 34,353,007 (GRCm39) S350P probably benign Het
Itgam A G 7: 127,711,458 (GRCm39) probably null Het
Lama1 C A 17: 68,086,041 (GRCm39) probably null Het
Lrrc4b T A 7: 44,111,982 (GRCm39) V618E probably damaging Het
Mns1 A G 9: 72,346,730 (GRCm39) E71G probably damaging Het
Ncoa6 T A 2: 155,248,858 (GRCm39) N1482I probably damaging Het
Neto2 C A 8: 86,389,924 (GRCm39) E180* probably null Het
Psmb7 A T 2: 38,503,440 (GRCm39) probably benign Het
Rin2 C T 2: 145,664,550 (GRCm39) T60M probably benign Het
Slc28a3 A G 13: 58,706,092 (GRCm39) V639A probably benign Het
Tenm2 A T 11: 35,915,147 (GRCm39) I2129N probably damaging Het
Topaz1 A G 9: 122,626,848 (GRCm39) D1492G possibly damaging Het
Trank1 G A 9: 111,207,887 (GRCm39) G1711R probably damaging Het
Trpm1 A G 7: 63,867,451 (GRCm39) probably benign Het
Ugt1a6a T A 1: 88,066,251 (GRCm39) V19E probably benign Het
Vmn2r60 A T 7: 41,785,125 (GRCm39) E112D probably damaging Het
Wdr4 T G 17: 31,731,195 (GRCm39) Q55P probably damaging Het
Xpnpep1 G A 19: 52,992,250 (GRCm39) probably benign Het
Zfyve16 A T 13: 92,657,769 (GRCm39) L714Q probably damaging 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
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
R7224:Man1a2 UTSW 3 100,489,369 (GRCm39) missense possibly damaging 0.85
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'- GTGGAATAGCTAATTGGAAATCTCC -3'
(R):5'- AGATGATGACCAGAACTATGCCC -3'

Sequencing Primer
(F):5'- GGAAATCTCCATGAACAAAAATGTC -3'
(R):5'- TGTCCACTGAGGCTGTCACATG -3'
Posted On 2015-04-02