Incidental Mutation 'IGL03412:Man2a2'
ID421851
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Man2a2
Ensembl Gene ENSMUSG00000038886
Gene Namemannosidase 2, alpha 2
Synonymsalpha mannosidase IIx, 1700052O22Rik, MX, 4931438M07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.213) question?
Stock #IGL03412
Quality Score
Status
Chromosome7
Chromosomal Location80349097-80371375 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 80366998 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 356 (V356D)
Ref Sequence ENSEMBL: ENSMUSP00000145861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098346] [ENSMUST00000205436] [ENSMUST00000206212] [ENSMUST00000206301]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098346
AA Change: V356D

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: V356D

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 probably benign
Transcript: ENSMUST00000205436
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205535
Predicted Effect probably benign
Transcript: ENSMUST00000205853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206066
Predicted Effect probably benign
Transcript: ENSMUST00000206212
Predicted Effect probably damaging
Transcript: ENSMUST00000206301
AA Change: V356D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206917
Coding Region Coverage
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,491,770 R736* probably null Het
Agpat2 T C 2: 26,593,661 T255A probably benign Het
Akap3 G A 6: 126,864,725 M102I probably benign Het
Cd300lb C A 11: 114,928,380 R5M probably damaging Het
Chrna5 A T 9: 55,004,435 D69V probably damaging Het
Col9a1 G A 1: 24,210,427 probably null Het
Dnajb12 A T 10: 59,890,073 H60L probably benign Het
Dnal1 T A 12: 84,135,667 M1K probably null Het
Exoc7 C T 11: 116,289,275 V655M possibly damaging Het
Fastkd3 A G 13: 68,583,721 R54G probably benign Het
Fbln2 G A 6: 91,271,781 D1143N probably damaging Het
Flii C T 11: 60,722,640 V174M probably damaging Het
Gtf2h4 T C 17: 35,668,483 I388M probably damaging Het
Il20rb A G 9: 100,474,996 V27A probably benign Het
Kidins220 T C 12: 24,999,345 S320P probably damaging Het
Kif1b T C 4: 149,274,939 S114G probably benign Het
Lama3 T C 18: 12,419,182 V397A probably damaging Het
Mcpt9 T G 14: 56,028,027 T72P probably damaging Het
Mmd T C 11: 90,257,603 probably null Het
Mroh2b G A 15: 4,944,372 R1124Q probably benign Het
Mvp T C 7: 126,993,563 D392G probably damaging Het
Mycbpap T A 11: 94,508,101 probably null Het
Myh2 A G 11: 67,189,569 H1203R probably benign Het
Nbeal1 T A 1: 60,242,567 C816* probably null Het
Olfr1242 T A 2: 89,494,211 I34F probably benign Het
Olfr1440 A T 19: 12,394,379 T39S probably damaging Het
Pcdh12 C T 18: 38,283,515 V186M probably benign Het
Pik3c2a C T 7: 116,417,839 E228K probably benign Het
Plcz1 A C 6: 140,016,097 Y243D probably damaging Het
Rspo3 T A 10: 29,535,274 I19F possibly damaging Het
Slc2a12 T C 10: 22,664,969 L241P probably damaging Het
Slc4a10 G A 2: 62,250,543 probably benign Het
Snai2 A T 16: 14,707,256 T209S possibly damaging Het
Sorcs2 T C 5: 36,046,504 D549G probably damaging Het
Srsf12 G A 4: 33,230,929 R141Q probably damaging Het
Stab1 T G 14: 31,154,407 E908D probably benign Het
Stat6 A T 10: 127,658,205 M634L probably benign Het
Tex21 A G 12: 76,245,006 probably null Het
Tsc2 C A 17: 24,597,068 R1715L probably damaging Het
Ttll4 A G 1: 74,687,321 I693V probably benign Het
Vmn1r5 A T 6: 56,985,933 M198L possibly damaging Het
Vmn1r50 T C 6: 90,108,025 Y251H probably damaging Het
Vmn2r59 A G 7: 42,012,438 I651T probably benign Het
Wdr3 G T 3: 100,151,977 T342K probably benign Het
Zbtb44 A G 9: 31,053,467 T58A probably benign Het
Zeb2 A G 2: 45,002,708 probably benign Het
Zmym2 C T 14: 56,959,719 Q1315* probably null Het
Zmym6 T C 4: 127,092,938 I137T probably damaging Het
Other mutations in Man2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Man2a2 APN 7 80361132 missense possibly damaging 0.94
IGL01405:Man2a2 APN 7 80360934 missense probably benign 0.00
IGL01717:Man2a2 APN 7 80367365 missense probably damaging 1.00
IGL01843:Man2a2 APN 7 80362906 missense probably benign
IGL02212:Man2a2 APN 7 80362308 missense probably benign 0.00
IGL02383:Man2a2 APN 7 80359640 missense probably damaging 0.99
IGL02434:Man2a2 APN 7 80359640 missense probably damaging 0.99
IGL02493:Man2a2 APN 7 80369615 missense possibly damaging 0.68
IGL02528:Man2a2 APN 7 80359640 missense probably damaging 0.99
IGL02529:Man2a2 APN 7 80359640 missense probably damaging 0.99
IGL02530:Man2a2 APN 7 80359640 missense probably damaging 0.99
IGL02534:Man2a2 APN 7 80359640 missense probably damaging 0.99
IGL02869:Man2a2 APN 7 80363941 missense probably benign 0.00
IGL03084:Man2a2 APN 7 80352943 missense possibly damaging 0.88
IGL03088:Man2a2 APN 7 80359334 missense possibly damaging 0.91
IGL03377:Man2a2 APN 7 80359052 splice site probably null
dugong UTSW 7 80360921 missense probably benign 0.12
R0112:Man2a2 UTSW 7 80358276 missense probably damaging 0.99
R0119:Man2a2 UTSW 7 80367405 missense probably damaging 1.00
R0646:Man2a2 UTSW 7 80363197 missense possibly damaging 0.53
R1184:Man2a2 UTSW 7 80362965 missense possibly damaging 0.79
R1445:Man2a2 UTSW 7 80368562 missense probably benign 0.06
R1626:Man2a2 UTSW 7 80367702 missense probably damaging 1.00
R1739:Man2a2 UTSW 7 80362438 missense probably benign 0.10
R1820:Man2a2 UTSW 7 80358933 missense probably benign 0.22
R2090:Man2a2 UTSW 7 80364110 unclassified probably benign
R2144:Man2a2 UTSW 7 80363516 missense probably damaging 1.00
R2150:Man2a2 UTSW 7 80367784 missense probably damaging 1.00
R3882:Man2a2 UTSW 7 80362315 missense possibly damaging 0.70
R4181:Man2a2 UTSW 7 80351739 missense possibly damaging 0.79
R4285:Man2a2 UTSW 7 80368619 missense probably damaging 1.00
R4302:Man2a2 UTSW 7 80351739 missense possibly damaging 0.79
R4440:Man2a2 UTSW 7 80351715 missense probably benign 0.37
R4494:Man2a2 UTSW 7 80359275 splice site probably null
R4564:Man2a2 UTSW 7 80368838 missense probably benign 0.00
R4631:Man2a2 UTSW 7 80362463 missense probably benign 0.10
R5328:Man2a2 UTSW 7 80368756 missense probably benign 0.06
R5329:Man2a2 UTSW 7 80361128 missense possibly damaging 0.82
R5468:Man2a2 UTSW 7 80352981 missense probably damaging 0.98
R5774:Man2a2 UTSW 7 80368358 missense probably damaging 1.00
R5824:Man2a2 UTSW 7 80353032 missense probably benign 0.00
R5915:Man2a2 UTSW 7 80360921 missense probably benign 0.12
R5937:Man2a2 UTSW 7 80363503 missense probably damaging 1.00
R6101:Man2a2 UTSW 7 80367001 missense probably damaging 1.00
R6105:Man2a2 UTSW 7 80367001 missense probably damaging 1.00
R6481:Man2a2 UTSW 7 80364071 missense probably damaging 0.99
R6592:Man2a2 UTSW 7 80353199 missense probably damaging 0.98
R6869:Man2a2 UTSW 7 80362945 missense probably benign 0.35
R6918:Man2a2 UTSW 7 80353192 missense possibly damaging 0.91
R7137:Man2a2 UTSW 7 80359751 missense probably benign 0.19
R7236:Man2a2 UTSW 7 80368905 missense probably damaging 1.00
R7496:Man2a2 UTSW 7 80352997 missense probably damaging 1.00
R7522:Man2a2 UTSW 7 80368865 missense probably benign 0.00
R7523:Man2a2 UTSW 7 80368865 missense probably benign 0.00
R7524:Man2a2 UTSW 7 80368865 missense probably benign 0.00
R7583:Man2a2 UTSW 7 80366944 missense probably damaging 1.00
R7681:Man2a2 UTSW 7 80351749 missense possibly damaging 0.49
R7828:Man2a2 UTSW 7 80366926 missense probably damaging 0.98
R7843:Man2a2 UTSW 7 80368865 missense probably benign 0.00
R7845:Man2a2 UTSW 7 80368865 missense probably benign 0.00
R7847:Man2a2 UTSW 7 80368865 missense probably benign 0.00
R7848:Man2a2 UTSW 7 80368865 missense probably benign 0.00
R7984:Man2a2 UTSW 7 80353308 missense probably damaging 0.99
R8194:Man2a2 UTSW 7 80361018 missense probably benign
R8296:Man2a2 UTSW 7 80368908 missense probably damaging 0.99
R8376:Man2a2 UTSW 7 80360923 nonsense probably null
R8515:Man2a2 UTSW 7 80368290 missense possibly damaging 0.88
X0057:Man2a2 UTSW 7 80362324 missense probably damaging 1.00
Posted On2016-08-02