Incidental Mutation 'R1184:Man2a2'
ID 101919
Institutional Source Beutler Lab
Gene Symbol Man2a2
Ensembl Gene ENSMUSG00000038886
Gene Name mannosidase 2, alpha 2
Synonyms alpha mannosidase IIx, 1700052O22Rik, MX, 4931438M07Rik
MMRRC Submission 039256-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R1184 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 80349097-80371375 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80362965 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 600 (I600N)
Ref Sequence ENSEMBL: ENSMUSP00000095949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098346] [ENSMUST00000206301] [ENSMUST00000206807]
AlphaFold Q8BRK9
Predicted Effect possibly damaging
Transcript: ENSMUST00000098346
AA Change: I600N

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: I600N

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: ENSMUST00000205535
Predicted Effect unknown
Transcript: ENSMUST00000205853
AA Change: H52Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206066
Predicted Effect probably benign
Transcript: ENSMUST00000206301
AA Change: H567Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000206807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206973
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency 100% (83/83)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,160,912 (GRCm38) R7G probably damaging Het
2410089E03Rik G T 15: 8,216,487 (GRCm38) V1448L probably benign Het
Ahdc1 T A 4: 133,065,396 (GRCm38) M1316K probably benign Het
Alkal1 A G 1: 6,389,488 (GRCm38) Y96C probably damaging Het
Arhgap17 T C 7: 123,314,690 (GRCm38) Y199C probably damaging Het
Bmp2 T C 2: 133,561,468 (GRCm38) V313A probably damaging Het
Cacna1b C T 2: 24,687,745 (GRCm38) probably null Het
Cars T C 7: 143,587,139 (GRCm38) T141A probably damaging Het
Ccdc57 A G 11: 120,873,811 (GRCm38) probably benign Het
Cenpe T C 3: 135,264,422 (GRCm38) probably null Het
Chadl T C 15: 81,693,057 (GRCm38) S198G probably benign Het
Chd6 G C 2: 161,030,802 (GRCm38) P286R probably damaging Het
Clec4a4 G T 6: 123,012,712 (GRCm38) W104L probably benign Het
Coq4 G A 2: 29,788,334 (GRCm38) probably benign Het
Crtc2 T A 3: 90,262,633 (GRCm38) Y445* probably null Het
Dapk1 A T 13: 60,696,298 (GRCm38) I44F probably damaging Het
Dcbld2 T A 16: 58,449,841 (GRCm38) probably null Het
Dcun1d4 T C 5: 73,511,112 (GRCm38) probably benign Het
Depdc7 A T 2: 104,730,178 (GRCm38) probably benign Het
Dna2 A G 10: 62,959,198 (GRCm38) D416G probably benign Het
Dnah2 A T 11: 69,499,190 (GRCm38) I743N probably damaging Het
Dnah9 A G 11: 66,084,612 (GRCm38) probably null Het
Dock3 A G 9: 106,969,800 (GRCm38) S877P probably damaging Het
Eif3l T A 15: 79,075,766 (GRCm38) probably null Het
Epha5 A T 5: 84,071,275 (GRCm38) probably null Het
Ffar3 T A 7: 30,855,104 (GRCm38) N264Y probably damaging Het
Fyb A T 15: 6,638,900 (GRCm38) I525F probably damaging Het
Fyco1 A G 9: 123,819,153 (GRCm38) F1239L probably damaging Het
Gcdh T C 8: 84,893,442 (GRCm38) probably benign Het
Gk5 T C 9: 96,150,420 (GRCm38) probably benign Het
Gm21188 A T 13: 120,035,131 (GRCm38) N67K probably benign Het
Gm8979 A G 7: 106,083,952 (GRCm38) V32A probably benign Het
Grm1 A G 10: 10,720,034 (GRCm38) Y617H probably benign Het
Hhipl2 A T 1: 183,425,134 (GRCm38) I131L probably damaging Het
Larp4b T C 13: 9,166,309 (GRCm38) probably benign Het
Lrig2 T A 3: 104,490,911 (GRCm38) I301F possibly damaging Het
Mylk2 G C 2: 152,913,741 (GRCm38) probably null Het
Myo6 C T 9: 80,286,382 (GRCm38) Q870* probably null Het
Napg T G 18: 62,994,338 (GRCm38) H204Q probably benign Het
Neb G A 2: 52,263,947 (GRCm38) T2384M probably damaging Het
Nek10 A G 14: 14,931,325 (GRCm38) probably benign Het
Olfr1216 A G 2: 89,013,713 (GRCm38) M117T probably damaging Het
Olfr1440 T C 19: 12,394,857 (GRCm38) V198A probably benign Het
Olfr1462 T G 19: 13,191,375 (GRCm38) L236R probably damaging Het
Olfr748 A C 14: 50,710,614 (GRCm38) T95P probably benign Het
Pclo A G 5: 14,522,262 (GRCm38) T554A unknown Het
Perm1 C A 4: 156,217,314 (GRCm38) T105K probably damaging Het
Pik3r1 T C 13: 101,686,358 (GRCm38) probably null Het
Pld5 A G 1: 176,044,896 (GRCm38) I225T probably damaging Het
Plxnc1 T C 10: 94,831,333 (GRCm38) probably benign Het
Ptpn12 A C 5: 20,998,356 (GRCm38) S475A possibly damaging Het
Ptprt A G 2: 161,927,772 (GRCm38) V391A possibly damaging Het
Rac2 T G 15: 78,565,945 (GRCm38) D65A possibly damaging Het
Rgl3 A G 9: 21,977,380 (GRCm38) probably null Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Sebox A T 11: 78,503,849 (GRCm38) T47S probably damaging Het
Sema4b A G 7: 80,224,640 (GRCm38) T593A probably benign Het
Serpina3a C T 12: 104,116,528 (GRCm38) Q187* probably null Het
Serpinb1a T C 13: 32,843,216 (GRCm38) K248E probably benign Het
Serpinb9e A C 13: 33,259,774 (GRCm38) E259A probably benign Het
Slc30a3 T A 5: 31,090,166 (GRCm38) H44L probably damaging Het
Smarca2 T C 19: 26,770,933 (GRCm38) probably benign Het
Snrnp200 T A 2: 127,236,817 (GRCm38) C1801S probably damaging Het
Soat1 G A 1: 156,442,374 (GRCm38) probably null Het
Spink6 T C 18: 44,071,538 (GRCm38) probably benign Het
Spta1 G A 1: 174,184,690 (GRCm38) R354H probably damaging Het
Tbck T A 3: 132,837,972 (GRCm38) H861Q probably benign Het
Tgfbrap1 G A 1: 43,049,696 (GRCm38) T849M possibly damaging Het
Tnrc6a A G 7: 123,170,340 (GRCm38) N451S possibly damaging Het
Trim36 T C 18: 46,196,251 (GRCm38) T41A probably damaging Het
Trmt112 C A 19: 6,910,353 (GRCm38) probably benign Het
Trpc4ap A G 2: 155,645,070 (GRCm38) probably benign Het
Ttll7 C T 3: 146,939,991 (GRCm38) P535S probably damaging Het
Ttn A T 2: 76,861,432 (GRCm38) probably benign Het
Txndc11 C T 16: 11,128,500 (GRCm38) R149Q probably benign Het
Ubr4 C T 4: 139,437,198 (GRCm38) probably benign Het
Usp30 G A 5: 114,103,827 (GRCm38) probably null Het
Vmn1r195 A G 13: 22,279,011 (GRCm38) Y217C probably damaging Het
Vps33b T A 7: 80,282,486 (GRCm38) D135E probably benign Het
Vrk2 A G 11: 26,483,331 (GRCm38) probably benign Het
Wdr81 G T 11: 75,452,983 (GRCm38) P486Q probably damaging Het
Zfp788 T C 7: 41,648,326 (GRCm38) Y129H probably damaging Het
Other mutations in Man2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Man2a2 APN 7 80,361,132 (GRCm38) missense possibly damaging 0.94
IGL01405:Man2a2 APN 7 80,360,934 (GRCm38) missense probably benign 0.00
IGL01717:Man2a2 APN 7 80,367,365 (GRCm38) missense probably damaging 1.00
IGL01843:Man2a2 APN 7 80,362,906 (GRCm38) missense probably benign
IGL02212:Man2a2 APN 7 80,362,308 (GRCm38) missense probably benign 0.00
IGL02383:Man2a2 APN 7 80,359,640 (GRCm38) missense probably damaging 0.99
IGL02434:Man2a2 APN 7 80,359,640 (GRCm38) missense probably damaging 0.99
IGL02493:Man2a2 APN 7 80,369,615 (GRCm38) missense possibly damaging 0.68
IGL02528:Man2a2 APN 7 80,359,640 (GRCm38) missense probably damaging 0.99
IGL02529:Man2a2 APN 7 80,359,640 (GRCm38) missense probably damaging 0.99
IGL02530:Man2a2 APN 7 80,359,640 (GRCm38) missense probably damaging 0.99
IGL02534:Man2a2 APN 7 80,359,640 (GRCm38) missense probably damaging 0.99
IGL02869:Man2a2 APN 7 80,363,941 (GRCm38) missense probably benign 0.00
IGL03084:Man2a2 APN 7 80,352,943 (GRCm38) missense possibly damaging 0.88
IGL03088:Man2a2 APN 7 80,359,334 (GRCm38) missense possibly damaging 0.91
IGL03377:Man2a2 APN 7 80,359,052 (GRCm38) splice site probably null
IGL03412:Man2a2 APN 7 80,366,998 (GRCm38) missense probably damaging 1.00
dugong UTSW 7 80,360,921 (GRCm38) missense probably benign 0.12
R2090_Man2a2_705 UTSW 7 80,364,110 (GRCm38) unclassified probably benign
R7828_Man2a2_437 UTSW 7 80,366,926 (GRCm38) missense probably damaging 0.98
R0112:Man2a2 UTSW 7 80,358,276 (GRCm38) missense probably damaging 0.99
R0119:Man2a2 UTSW 7 80,367,405 (GRCm38) missense probably damaging 1.00
R0646:Man2a2 UTSW 7 80,363,197 (GRCm38) missense possibly damaging 0.53
R1445:Man2a2 UTSW 7 80,368,562 (GRCm38) missense probably benign 0.06
R1626:Man2a2 UTSW 7 80,367,702 (GRCm38) missense probably damaging 1.00
R1739:Man2a2 UTSW 7 80,362,438 (GRCm38) missense probably benign 0.10
R1820:Man2a2 UTSW 7 80,358,933 (GRCm38) missense probably benign 0.22
R2090:Man2a2 UTSW 7 80,364,110 (GRCm38) unclassified probably benign
R2144:Man2a2 UTSW 7 80,363,516 (GRCm38) missense probably damaging 1.00
R2150:Man2a2 UTSW 7 80,367,784 (GRCm38) missense probably damaging 1.00
R3882:Man2a2 UTSW 7 80,362,315 (GRCm38) missense possibly damaging 0.70
R4181:Man2a2 UTSW 7 80,351,739 (GRCm38) missense possibly damaging 0.79
R4285:Man2a2 UTSW 7 80,368,619 (GRCm38) missense probably damaging 1.00
R4302:Man2a2 UTSW 7 80,351,739 (GRCm38) missense possibly damaging 0.79
R4440:Man2a2 UTSW 7 80,351,715 (GRCm38) missense probably benign 0.37
R4494:Man2a2 UTSW 7 80,359,275 (GRCm38) splice site probably null
R4564:Man2a2 UTSW 7 80,368,838 (GRCm38) missense probably benign 0.00
R4631:Man2a2 UTSW 7 80,362,463 (GRCm38) missense probably benign 0.10
R5328:Man2a2 UTSW 7 80,368,756 (GRCm38) missense probably benign 0.06
R5329:Man2a2 UTSW 7 80,361,128 (GRCm38) missense possibly damaging 0.82
R5468:Man2a2 UTSW 7 80,352,981 (GRCm38) missense probably damaging 0.98
R5774:Man2a2 UTSW 7 80,368,358 (GRCm38) missense probably damaging 1.00
R5824:Man2a2 UTSW 7 80,353,032 (GRCm38) missense probably benign 0.00
R5915:Man2a2 UTSW 7 80,360,921 (GRCm38) missense probably benign 0.12
R5937:Man2a2 UTSW 7 80,363,503 (GRCm38) missense probably damaging 1.00
R6101:Man2a2 UTSW 7 80,367,001 (GRCm38) missense probably damaging 1.00
R6105:Man2a2 UTSW 7 80,367,001 (GRCm38) missense probably damaging 1.00
R6481:Man2a2 UTSW 7 80,364,071 (GRCm38) missense probably damaging 0.99
R6592:Man2a2 UTSW 7 80,353,199 (GRCm38) missense probably damaging 0.98
R6869:Man2a2 UTSW 7 80,362,945 (GRCm38) missense probably benign 0.35
R6918:Man2a2 UTSW 7 80,353,192 (GRCm38) missense possibly damaging 0.91
R7137:Man2a2 UTSW 7 80,359,751 (GRCm38) missense probably benign 0.19
R7236:Man2a2 UTSW 7 80,368,905 (GRCm38) missense probably damaging 1.00
R7496:Man2a2 UTSW 7 80,352,997 (GRCm38) missense probably damaging 1.00
R7522:Man2a2 UTSW 7 80,368,865 (GRCm38) missense probably benign 0.00
R7523:Man2a2 UTSW 7 80,368,865 (GRCm38) missense probably benign 0.00
R7524:Man2a2 UTSW 7 80,368,865 (GRCm38) missense probably benign 0.00
R7583:Man2a2 UTSW 7 80,366,944 (GRCm38) missense probably damaging 1.00
R7681:Man2a2 UTSW 7 80,351,749 (GRCm38) missense possibly damaging 0.49
R7828:Man2a2 UTSW 7 80,366,926 (GRCm38) missense probably damaging 0.98
R7843:Man2a2 UTSW 7 80,368,865 (GRCm38) missense probably benign 0.00
R7845:Man2a2 UTSW 7 80,368,865 (GRCm38) missense probably benign 0.00
R7847:Man2a2 UTSW 7 80,368,865 (GRCm38) missense probably benign 0.00
R7848:Man2a2 UTSW 7 80,368,865 (GRCm38) missense probably benign 0.00
R7984:Man2a2 UTSW 7 80,353,308 (GRCm38) missense probably damaging 0.99
R8194:Man2a2 UTSW 7 80,361,018 (GRCm38) missense probably benign
R8296:Man2a2 UTSW 7 80,368,908 (GRCm38) missense probably damaging 0.99
R8376:Man2a2 UTSW 7 80,360,923 (GRCm38) nonsense probably null
R8515:Man2a2 UTSW 7 80,368,290 (GRCm38) missense possibly damaging 0.88
R8842:Man2a2 UTSW 7 80,353,319 (GRCm38) missense probably damaging 1.00
R9205:Man2a2 UTSW 7 80,361,120 (GRCm38) missense probably benign
R9563:Man2a2 UTSW 7 80,356,353 (GRCm38) missense probably benign
X0057:Man2a2 UTSW 7 80,362,324 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGACGAATGAGGACTACGCTCAAC -3'
(R):5'- TCCCTCGCCATGTCAAAGAACG -3'

Sequencing Primer
(F):5'- TTAAGCATGGAACTAGGACCC -3'
(R):5'- CATGTCAAAGAACGGCTGC -3'
Posted On 2014-01-15