Incidental Mutation 'R4440:Man2a2'
ID 329722
Institutional Source Beutler Lab
Gene Symbol Man2a2
Ensembl Gene ENSMUSG00000038886
Gene Name mannosidase 2, alpha 2
Synonyms MX, alpha mannosidase IIx, 1700052O22Rik, 4931438M07Rik
MMRRC Submission 041705-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R4440 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 79998845-80021123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 80001463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 1148 (R1148L)
Ref Sequence ENSEMBL: ENSMUSP00000095949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098346] [ENSMUST00000206089] [ENSMUST00000206807]
AlphaFold Q8BRK9
Predicted Effect probably benign
Transcript: ENSMUST00000098346
AA Change: R1148L

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: R1148L

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
coiled coil region 44 75 N/A INTRINSIC
Pfam:Glyco_hydro_38 167 497 1.9e-109 PFAM
Alpha-mann_mid 502 588 1.4e-32 SMART
Pfam:Glyco_hydro_38C 648 1148 1.1e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206066
Predicted Effect probably benign
Transcript: ENSMUST00000206089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206494
Predicted Effect probably benign
Transcript: ENSMUST00000206807
Meta Mutation Damage Score 0.6821 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 94% (46/49)
MGI Phenotype PHENOTYPE: Homozygous null males are infertile due to a defect during spermatogenesis involving the premature release of germ cells from the seminiferous tubules into the epididymis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp G T 2: 168,026,721 (GRCm39) H191Q possibly damaging Het
Afdn T C 17: 14,071,152 (GRCm39) W782R probably damaging Het
Alpl A T 4: 137,475,124 (GRCm39) W270R probably damaging Het
Angpt4 G T 2: 151,786,566 (GRCm39) G508C probably damaging Het
Armc8 T A 9: 99,366,087 (GRCm39) H609L probably benign Het
Atg2a T C 19: 6,305,859 (GRCm39) probably null Het
Bicdl2 C T 17: 23,886,590 (GRCm39) A393V probably benign Het
C6 A T 15: 4,764,733 (GRCm39) K143M possibly damaging Het
Cfc1 T A 1: 34,583,183 (GRCm39) probably benign Het
Ctnna3 A G 10: 64,096,714 (GRCm39) I417M probably benign Het
Dnhd1 G A 7: 105,345,935 (GRCm39) W2307* probably null Het
Dpysl5 T C 5: 30,949,612 (GRCm39) F461L probably damaging Het
Fip1l1 T C 5: 74,697,446 (GRCm39) probably benign Het
Fpgs C T 2: 32,577,513 (GRCm39) C219Y probably damaging Het
Fsip2 A G 2: 82,821,550 (GRCm39) D5761G possibly damaging Het
Hdac4 C A 1: 91,873,717 (GRCm39) G957C probably damaging Het
Klhl8 A G 5: 104,015,433 (GRCm39) I421T probably benign Het
Kntc1 T C 5: 123,932,216 (GRCm39) C1337R probably damaging Het
Lpin3 A G 2: 160,740,565 (GRCm39) N370S probably benign Het
Mideas C T 12: 84,203,245 (GRCm39) G886S probably benign Het
Nav2 C T 7: 49,201,785 (GRCm39) T1453I possibly damaging Het
Nav2 A G 7: 49,225,011 (GRCm39) probably benign Het
Ndufaf5 T A 2: 140,012,645 (GRCm39) V5D probably benign Het
Nipbl G C 15: 8,396,142 (GRCm39) Q144E probably damaging Het
Ntrk2 G C 13: 59,208,126 (GRCm39) Q657H probably damaging Het
Or4a75 G T 2: 89,448,512 (GRCm39) T8K probably damaging Het
Or4c107 G A 2: 88,789,685 (GRCm39) E292K probably benign Het
Polr1a A G 6: 71,927,832 (GRCm39) D861G probably damaging Het
Pramel15 A T 4: 144,099,437 (GRCm39) F443I probably benign Het
Pwwp2b T C 7: 138,835,555 (GRCm39) I332T probably benign Het
Rasgrf2 T C 13: 92,131,797 (GRCm39) D620G possibly damaging Het
Slc14a2 A G 18: 78,238,962 (GRCm39) V219A probably benign Het
Slc7a2 T C 8: 41,355,686 (GRCm39) I245T probably benign Het
Smok3c T A 5: 138,062,866 (GRCm39) Y118N possibly damaging Het
Taok2 C T 7: 126,465,693 (GRCm39) R367Q possibly damaging Het
Tbl1xr1 A G 3: 22,254,752 (GRCm39) probably null Het
Tbr1 A T 2: 61,635,182 (GRCm39) D44V possibly damaging Het
Tespa1 C T 10: 130,197,826 (GRCm39) R283C probably damaging Het
Tle2 A G 10: 81,417,516 (GRCm39) E227G possibly damaging Het
Vmn1r231 T C 17: 21,110,718 (GRCm39) R66G possibly damaging Het
Xab2 T C 8: 3,666,353 (GRCm39) E185G probably benign Het
Other mutations in Man2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Man2a2 APN 7 80,010,880 (GRCm39) missense possibly damaging 0.94
IGL01405:Man2a2 APN 7 80,010,682 (GRCm39) missense probably benign 0.00
IGL01717:Man2a2 APN 7 80,017,113 (GRCm39) missense probably damaging 1.00
IGL01843:Man2a2 APN 7 80,012,654 (GRCm39) missense probably benign
IGL02212:Man2a2 APN 7 80,012,056 (GRCm39) missense probably benign 0.00
IGL02383:Man2a2 APN 7 80,009,388 (GRCm39) missense probably damaging 0.99
IGL02434:Man2a2 APN 7 80,009,388 (GRCm39) missense probably damaging 0.99
IGL02493:Man2a2 APN 7 80,019,363 (GRCm39) missense possibly damaging 0.68
IGL02528:Man2a2 APN 7 80,009,388 (GRCm39) missense probably damaging 0.99
IGL02529:Man2a2 APN 7 80,009,388 (GRCm39) missense probably damaging 0.99
IGL02530:Man2a2 APN 7 80,009,388 (GRCm39) missense probably damaging 0.99
IGL02534:Man2a2 APN 7 80,009,388 (GRCm39) missense probably damaging 0.99
IGL02869:Man2a2 APN 7 80,013,689 (GRCm39) missense probably benign 0.00
IGL03084:Man2a2 APN 7 80,002,691 (GRCm39) missense possibly damaging 0.88
IGL03088:Man2a2 APN 7 80,009,082 (GRCm39) missense possibly damaging 0.91
IGL03377:Man2a2 APN 7 80,008,800 (GRCm39) splice site probably null
IGL03412:Man2a2 APN 7 80,016,746 (GRCm39) missense probably damaging 1.00
dugong UTSW 7 80,010,669 (GRCm39) missense probably benign 0.12
R2090_Man2a2_705 UTSW 7 80,013,858 (GRCm39) unclassified probably benign
R7828_Man2a2_437 UTSW 7 80,016,674 (GRCm39) missense probably damaging 0.98
R0112:Man2a2 UTSW 7 80,008,024 (GRCm39) missense probably damaging 0.99
R0119:Man2a2 UTSW 7 80,017,153 (GRCm39) missense probably damaging 1.00
R0646:Man2a2 UTSW 7 80,012,945 (GRCm39) missense possibly damaging 0.53
R1184:Man2a2 UTSW 7 80,012,713 (GRCm39) missense possibly damaging 0.79
R1445:Man2a2 UTSW 7 80,018,310 (GRCm39) missense probably benign 0.06
R1626:Man2a2 UTSW 7 80,017,450 (GRCm39) missense probably damaging 1.00
R1739:Man2a2 UTSW 7 80,012,186 (GRCm39) missense probably benign 0.10
R1820:Man2a2 UTSW 7 80,008,681 (GRCm39) missense probably benign 0.22
R2090:Man2a2 UTSW 7 80,013,858 (GRCm39) unclassified probably benign
R2144:Man2a2 UTSW 7 80,013,264 (GRCm39) missense probably damaging 1.00
R2150:Man2a2 UTSW 7 80,017,532 (GRCm39) missense probably damaging 1.00
R3882:Man2a2 UTSW 7 80,012,063 (GRCm39) missense possibly damaging 0.70
R4181:Man2a2 UTSW 7 80,001,487 (GRCm39) missense possibly damaging 0.79
R4285:Man2a2 UTSW 7 80,018,367 (GRCm39) missense probably damaging 1.00
R4302:Man2a2 UTSW 7 80,001,487 (GRCm39) missense possibly damaging 0.79
R4494:Man2a2 UTSW 7 80,009,023 (GRCm39) splice site probably null
R4564:Man2a2 UTSW 7 80,018,586 (GRCm39) missense probably benign 0.00
R4631:Man2a2 UTSW 7 80,012,211 (GRCm39) missense probably benign 0.10
R5328:Man2a2 UTSW 7 80,018,504 (GRCm39) missense probably benign 0.06
R5329:Man2a2 UTSW 7 80,010,876 (GRCm39) missense possibly damaging 0.82
R5468:Man2a2 UTSW 7 80,002,729 (GRCm39) missense probably damaging 0.98
R5774:Man2a2 UTSW 7 80,018,106 (GRCm39) missense probably damaging 1.00
R5824:Man2a2 UTSW 7 80,002,780 (GRCm39) missense probably benign 0.00
R5915:Man2a2 UTSW 7 80,010,669 (GRCm39) missense probably benign 0.12
R5937:Man2a2 UTSW 7 80,013,251 (GRCm39) missense probably damaging 1.00
R6101:Man2a2 UTSW 7 80,016,749 (GRCm39) missense probably damaging 1.00
R6105:Man2a2 UTSW 7 80,016,749 (GRCm39) missense probably damaging 1.00
R6481:Man2a2 UTSW 7 80,013,819 (GRCm39) missense probably damaging 0.99
R6592:Man2a2 UTSW 7 80,002,947 (GRCm39) missense probably damaging 0.98
R6869:Man2a2 UTSW 7 80,012,693 (GRCm39) missense probably benign 0.35
R6918:Man2a2 UTSW 7 80,002,940 (GRCm39) missense possibly damaging 0.91
R7137:Man2a2 UTSW 7 80,009,499 (GRCm39) missense probably benign 0.19
R7236:Man2a2 UTSW 7 80,018,653 (GRCm39) missense probably damaging 1.00
R7496:Man2a2 UTSW 7 80,002,745 (GRCm39) missense probably damaging 1.00
R7522:Man2a2 UTSW 7 80,018,613 (GRCm39) missense probably benign 0.00
R7523:Man2a2 UTSW 7 80,018,613 (GRCm39) missense probably benign 0.00
R7524:Man2a2 UTSW 7 80,018,613 (GRCm39) missense probably benign 0.00
R7583:Man2a2 UTSW 7 80,016,692 (GRCm39) missense probably damaging 1.00
R7681:Man2a2 UTSW 7 80,001,497 (GRCm39) missense possibly damaging 0.49
R7828:Man2a2 UTSW 7 80,016,674 (GRCm39) missense probably damaging 0.98
R7843:Man2a2 UTSW 7 80,018,613 (GRCm39) missense probably benign 0.00
R7845:Man2a2 UTSW 7 80,018,613 (GRCm39) missense probably benign 0.00
R7847:Man2a2 UTSW 7 80,018,613 (GRCm39) missense probably benign 0.00
R7848:Man2a2 UTSW 7 80,018,613 (GRCm39) missense probably benign 0.00
R7984:Man2a2 UTSW 7 80,003,056 (GRCm39) missense probably damaging 0.99
R8194:Man2a2 UTSW 7 80,010,766 (GRCm39) missense probably benign
R8296:Man2a2 UTSW 7 80,018,656 (GRCm39) missense probably damaging 0.99
R8376:Man2a2 UTSW 7 80,010,671 (GRCm39) nonsense probably null
R8515:Man2a2 UTSW 7 80,018,038 (GRCm39) missense possibly damaging 0.88
R8842:Man2a2 UTSW 7 80,003,067 (GRCm39) missense probably damaging 1.00
R9205:Man2a2 UTSW 7 80,010,868 (GRCm39) missense probably benign
R9563:Man2a2 UTSW 7 80,006,101 (GRCm39) missense probably benign
X0057:Man2a2 UTSW 7 80,012,072 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAAGGACTGTTCCAAACGCAG -3'
(R):5'- AGCACTCCGTGTAAGGAAGAAC -3'

Sequencing Primer
(F):5'- TGTTCCAAACGCAGGAGCAG -3'
(R):5'- AGGAAGAACTTACCCACTGTTAG -3'
Posted On 2015-07-21