Incidental Mutation 'R8296:Man2a2'
ID 638939
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 067785-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R8296 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 79998845-80021123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80018656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 68 (I68L)
Ref Sequence ENSEMBL: ENSMUSP00000095949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098346] [ENSMUST00000205436] [ENSMUST00000206212] [ENSMUST00000206301]
AlphaFold Q8BRK9
Predicted Effect probably damaging
Transcript: ENSMUST00000098346
AA Change: I68L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: I68L

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 probably benign
Transcript: ENSMUST00000205436
Predicted Effect probably benign
Transcript: ENSMUST00000206212
Predicted Effect probably benign
Transcript: ENSMUST00000206301
AA Change: I68L

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,415,896 (GRCm39) L663Q probably damaging Het
2610008E11Rik C G 10: 78,903,568 (GRCm39) R249S probably benign Het
6030469F06Rik A G 12: 31,235,058 (GRCm39) N146S noncoding transcript Het
Abcb5 G A 12: 118,838,467 (GRCm39) P1032S probably benign Het
Acvr2a A T 2: 48,789,736 (GRCm39) D493V possibly damaging Het
Amacr A G 15: 10,995,004 (GRCm39) D272G probably benign Het
Bach1 A C 16: 87,526,467 (GRCm39) K643T probably damaging Het
Bmt2 T C 6: 13,628,672 (GRCm39) Y337C probably damaging Het
Bsn A G 9: 107,994,578 (GRCm39) S566P probably benign Het
Cass4 A C 2: 172,269,094 (GRCm39) D392A probably benign Het
Cbx2 A G 11: 118,918,954 (GRCm39) E173G probably damaging Het
Ccdc166 G C 15: 75,852,860 (GRCm39) A369G probably benign Het
Ccdc77 G A 6: 120,308,870 (GRCm39) T315M possibly damaging Het
Ceacam10 C A 7: 24,480,513 (GRCm39) H215N unknown Het
Ces1e C T 8: 93,929,947 (GRCm39) M445I probably benign Het
Ces2b T G 8: 105,563,112 (GRCm39) V350G possibly damaging Het
Chtf18 A G 17: 25,941,165 (GRCm39) L611P probably benign Het
Col9a1 C A 1: 24,217,380 (GRCm39) P19T unknown Het
Csf1r A T 18: 61,250,750 (GRCm39) N487I probably damaging Het
Csl A T 10: 99,594,161 (GRCm39) H301Q probably damaging Het
Cyp24a1 G A 2: 170,332,036 (GRCm39) T330M probably damaging Het
Ddb2 T C 2: 91,042,645 (GRCm39) D405G probably damaging Het
Degs1 A G 1: 182,110,241 (GRCm39) F10L probably benign Het
Dhrs2 T A 14: 55,477,928 (GRCm39) I220N probably damaging Het
Dlg5 T C 14: 24,198,328 (GRCm39) D1535G possibly damaging Het
Dpy19l1 A G 9: 24,414,372 (GRCm39) S19P probably benign Het
Eif3l A C 15: 78,963,220 (GRCm39) E134A possibly damaging Het
Epb41 C A 4: 131,664,772 (GRCm39) V90L Het
Flad1 A T 3: 89,316,109 (GRCm39) V151D probably damaging Het
Gja10 A T 4: 32,601,568 (GRCm39) I272N probably benign Het
Glmp T A 3: 88,233,580 (GRCm39) D178E probably benign Het
Gm16494 G A 17: 47,327,750 (GRCm39) P45S probably damaging Het
Gm4553 T C 7: 141,719,458 (GRCm39) D6G unknown Het
Grid2 G A 6: 63,233,929 (GRCm39) probably null Het
Icmt A G 4: 152,387,482 (GRCm39) M226V probably benign Het
Igkv5-39 T C 6: 69,877,607 (GRCm39) S50G probably benign Het
Ints5 T C 19: 8,872,484 (GRCm39) S148P probably damaging Het
Itga2b A C 11: 102,351,985 (GRCm39) V504G possibly damaging Het
Krt20 T A 11: 99,323,063 (GRCm39) Y253F probably damaging Het
Mpi G A 9: 57,455,954 (GRCm39) T176I probably benign Het
Msh6 C T 17: 88,294,340 (GRCm39) R1032C probably damaging Het
Myot C T 18: 44,475,416 (GRCm39) T179I probably damaging Het
Neb A G 2: 52,116,601 (GRCm39) S946P Het
Notch3 G A 17: 32,341,713 (GRCm39) A2013V probably damaging Het
Nr1d1 T C 11: 98,662,133 (GRCm39) Y167C probably damaging Het
Or52h7 T A 7: 104,213,593 (GRCm39) F55Y probably benign Het
Or52n2c T C 7: 104,574,828 (GRCm39) I48V probably benign Het
Or7g32 A G 9: 19,408,377 (GRCm39) E111G probably damaging Het
Or8k40 A C 2: 86,584,893 (GRCm39) L63R probably damaging Het
P4ha3 G A 7: 99,966,309 (GRCm39) V485M probably damaging Het
Pbk T A 14: 66,054,185 (GRCm39) C243* probably null Het
Pde4b T A 4: 102,459,983 (GRCm39) L388H possibly damaging Het
Pecam1 T C 11: 106,579,745 (GRCm39) D439G probably benign Het
Pknox2 A T 9: 36,822,459 (GRCm39) M230K probably benign Het
Plekhh2 A G 17: 84,908,113 (GRCm39) I1185V probably damaging Het
Polr3g A G 13: 81,842,682 (GRCm39) V111A unknown Het
Prkcg G C 7: 3,377,580 (GRCm39) E562D probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rnf123 A T 9: 107,940,089 (GRCm39) V768D probably damaging Het
Rps16 T A 7: 28,052,008 (GRCm39) S129T probably benign Het
Scg2 A T 1: 79,413,222 (GRCm39) N460K probably benign Het
Sct T C 7: 140,858,807 (GRCm39) S42G probably damaging Het
Spef2 A T 15: 9,727,629 (GRCm39) N151K probably benign Het
Syce1l C A 8: 114,380,721 (GRCm39) D144E possibly damaging Het
Syt17 T C 7: 118,036,069 (GRCm39) Y99C probably damaging Het
Tgfbr3 T C 5: 107,287,640 (GRCm39) N520D probably damaging Het
Thsd7b A G 1: 129,523,193 (GRCm39) S76G probably benign Het
Tmem63a G T 1: 180,788,685 (GRCm39) V341F probably benign Het
Trim5 A G 7: 103,914,993 (GRCm39) S359P probably damaging Het
Tst A T 15: 78,284,020 (GRCm39) V269E probably damaging Het
Ubr3 A T 2: 69,784,706 (GRCm39) I808F probably null Het
Ugt3a1 T A 15: 9,362,024 (GRCm39) Y267N probably benign Het
Wwc1 A T 11: 35,761,384 (GRCm39) probably benign Het
Zfp36l2 G T 17: 84,494,552 (GRCm39) N28K probably damaging Het
Zfp57 A G 17: 37,321,136 (GRCm39) D330G probably benign Het
Zgrf1 C A 3: 127,377,644 (GRCm39) S963Y probably damaging Het
Zranb2 A G 3: 157,247,412 (GRCm39) K197E unknown 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
R4440:Man2a2 UTSW 7 80,001,463 (GRCm39) missense probably benign 0.37
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
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'- GTAGTTCTGGCTTCTGACCC -3'
(R):5'- GCCTTGTGTAATAATAGCCTGAC -3'

Sequencing Primer
(F):5'- GGCTTCTGACCCCGTCC -3'
(R):5'- AGCCTGACTTAAGTTTCTGGCAGAC -3'
Posted On 2020-07-28