Incidental Mutation 'R0043:Man1a2'
ID16139
Institutional Source Beutler Lab
Gene Symbol Man1a2
Ensembl Gene ENSMUSG00000008763
Gene Namemannosidase, alpha, class 1A, member 2
SynonymsMan1b
MMRRC Submission 038337-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0043 (G1)
Quality Score
Status Validated
Chromosome3
Chromosomal Location100562208-100685503 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 100587880 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 448 (W448R)
Ref Sequence ENSEMBL: ENSMUSP00000008907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008907]
Predicted Effect probably damaging
Transcript: ENSMUST00000008907
AA Change: W448R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000008907
Gene: ENSMUSG00000008763
AA Change: W448R

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 noncoding transcript
Transcript: ENSMUST00000133642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197836
Meta Mutation Damage Score 0.3097 question?
Coding Region Coverage
  • 1x: 81.2%
  • 3x: 72.1%
  • 10x: 49.9%
  • 20x: 30.2%
Validation Efficiency 90% (56/62)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T A 1: 26,683,802 I766F possibly damaging Het
Accs A G 2: 93,841,885 Y213H probably benign Het
Adcy9 A G 16: 4,289,015 L982P probably benign Het
Cntnap2 T A 6: 46,483,983 V651E probably benign Het
Cstf3 A T 2: 104,645,085 probably benign Het
Dnah1 T C 14: 31,274,405 D2658G probably damaging Het
Dsg4 T C 18: 20,452,972 S240P probably damaging Het
Dync2h1 C T 9: 7,005,574 M3765I probably benign Het
Fam160b2 A T 14: 70,588,661 S304T probably benign Het
Fbxw7 T C 3: 84,972,567 probably benign Het
Gata4 T C 14: 63,203,301 probably benign Het
Hyal1 T C 9: 107,579,320 L152P probably benign Het
Ifi207 T A 1: 173,729,112 T694S possibly damaging Het
Kalrn C A 16: 34,054,906 G99W probably damaging Het
Mfsd6 A T 1: 52,708,652 Y351* probably null Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Mki67 T C 7: 135,700,581 D908G probably benign Het
Nav3 A G 10: 109,767,518 S1057P possibly damaging Het
Rasgef1b T C 5: 99,243,194 Y102C probably damaging Het
Sbf1 A G 15: 89,295,561 V1281A probably benign Het
Sfmbt1 T A 14: 30,816,807 S794R probably damaging Het
Skint3 T A 4: 112,277,623 V331E probably damaging Het
Spata6 A T 4: 111,780,805 R277S probably damaging Het
Spink12 T C 18: 44,107,696 C50R probably damaging Het
Trappc11 A G 8: 47,505,575 probably benign Het
Ube2u G T 4: 100,482,829 V66F possibly damaging Het
Usp42 A C 5: 143,714,710 V1186G probably benign Het
Yme1l1 T C 2: 23,187,803 I419T probably damaging Het
Other mutations in Man1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01987:Man1a2 APN 3 100644557 missense probably damaging 1.00
IGL02009:Man1a2 APN 3 100684662 missense probably damaging 0.99
IGL02097:Man1a2 APN 3 100582131 missense possibly damaging 0.68
IGL02395:Man1a2 APN 3 100644537 splice site probably null
IGL02441:Man1a2 APN 3 100591873 missense probably benign 0.01
R0064:Man1a2 UTSW 3 100591883 missense possibly damaging 0.95
R0217:Man1a2 UTSW 3 100617037 missense possibly damaging 0.61
R0266:Man1a2 UTSW 3 100582034 missense probably damaging 1.00
R0284:Man1a2 UTSW 3 100684786 missense probably damaging 0.98
R0633:Man1a2 UTSW 3 100684575 missense possibly damaging 0.80
R1074:Man1a2 UTSW 3 100656086 missense possibly damaging 0.68
R2167:Man1a2 UTSW 3 100591900 missense probably damaging 1.00
R2177:Man1a2 UTSW 3 100632531 missense probably damaging 1.00
R3822:Man1a2 UTSW 3 100632597 missense possibly damaging 0.48
R4361:Man1a2 UTSW 3 100656042 missense probably benign
R4652:Man1a2 UTSW 3 100632561 missense probably damaging 1.00
R4871:Man1a2 UTSW 3 100617056 missense probably damaging 1.00
R5153:Man1a2 UTSW 3 100656263 missense probably damaging 1.00
R5182:Man1a2 UTSW 3 100647017 missense probably damaging 0.99
R5201:Man1a2 UTSW 3 100617012 missense probably benign
R5251:Man1a2 UTSW 3 100620099 missense probably damaging 1.00
R6135:Man1a2 UTSW 3 100684932 start gained probably benign
R6793:Man1a2 UTSW 3 100632597 missense possibly damaging 0.48
R6886:Man1a2 UTSW 3 100656071 missense probably benign 0.00
R7209:Man1a2 UTSW 3 100647079 missense unknown
R7224:Man1a2 UTSW 3 100582053 missense possibly damaging 0.85
R7308:Man1a2 UTSW 3 100620105 missense probably damaging 1.00
R7815:Man1a2 UTSW 3 100656179 missense probably damaging 0.99
R7826:Man1a2 UTSW 3 100582139 missense probably damaging 1.00
Posted On2013-01-08