Incidental Mutation 'IGL01319:Man2a2'
ID 73972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Man2a2
Ensembl Gene ENSMUSG00000038886
Gene Name mannosidase 2, alpha 2
Synonyms MX, alpha mannosidase IIx, 1700052O22Rik, 4931438M07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # IGL01319
Quality Score
Status
Chromosome 7
Chromosomal Location 79998845-80021123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80010880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 704 (V704M)
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: V704M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095949
Gene: ENSMUSG00000038886
AA Change: V704M

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 probably benign
Transcript: ENSMUST00000205853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206066
Predicted Effect probably benign
Transcript: ENSMUST00000206301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206973
Predicted Effect probably benign
Transcript: ENSMUST00000206807
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,888,077 (GRCm39) V307E probably benign Het
Bub1b T C 2: 118,445,475 (GRCm39) I265T possibly damaging Het
Cemip2 C T 19: 21,822,121 (GRCm39) P1172L possibly damaging Het
Cntnap3 G A 13: 64,935,651 (GRCm39) T404I probably damaging Het
Disc1 T C 8: 125,814,630 (GRCm39) S165P probably damaging Het
Dock1 T C 7: 134,391,007 (GRCm39) F756L probably benign Het
Dock2 A G 11: 34,589,617 (GRCm39) V480A possibly damaging Het
Drc3 A G 11: 60,255,788 (GRCm39) D125G probably null Het
Emid1 C T 11: 5,093,859 (GRCm39) C96Y probably damaging Het
F13b A G 1: 139,434,531 (GRCm39) N99S probably damaging Het
Fam20a A G 11: 109,569,284 (GRCm39) probably benign Het
Fancd2 C A 6: 113,561,860 (GRCm39) T1243K probably damaging Het
Fbxw14 T C 9: 109,107,859 (GRCm39) K172E probably damaging Het
Gm13941 T C 2: 110,925,150 (GRCm39) probably null Het
Gtpbp4 A T 13: 9,035,296 (GRCm39) N354K probably benign Het
Igkv2-116 T C 6: 68,129,388 (GRCm39) L50P probably benign Het
Klrb1-ps1 C T 6: 129,093,548 (GRCm39) P23L possibly damaging Het
Kng2 T A 16: 22,847,584 (GRCm39) I26F probably damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Lrpprc T C 17: 85,012,840 (GRCm39) probably benign Het
Mbip A G 12: 56,377,027 (GRCm39) V303A probably benign Het
Mipep A T 14: 61,080,720 (GRCm39) M571L probably benign Het
Ncan A T 8: 70,550,212 (GRCm39) V1188D probably damaging Het
Pcdhb4 T C 18: 37,441,566 (GRCm39) V292A probably benign Het
Pkd1 T C 17: 24,806,893 (GRCm39) probably benign Het
Ppp2r2c T A 5: 37,104,465 (GRCm39) S282T possibly damaging Het
Rad54l2 C T 9: 106,596,245 (GRCm39) G231D probably benign Het
Rnf20 T G 4: 49,649,326 (GRCm39) D443E probably damaging Het
Rptor A G 11: 119,781,996 (GRCm39) M1108V probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Sesn2 C T 4: 132,227,278 (GRCm39) probably benign Het
Shank1 C A 7: 44,002,547 (GRCm39) A1422E possibly damaging Het
Skic3 A G 13: 76,277,498 (GRCm39) H491R probably benign Het
Slc13a4 C T 6: 35,284,288 (GRCm39) probably null Het
Snrnp200 T C 2: 127,072,047 (GRCm39) probably benign Het
Src G A 2: 157,311,423 (GRCm39) G461R probably damaging Het
Tbxas1 A G 6: 38,994,907 (GRCm39) I178V probably benign Het
Triml1 A G 8: 43,594,434 (GRCm39) probably benign Het
Tsen2 A T 6: 115,553,945 (GRCm39) Q441L probably damaging Het
Ttc23l A G 15: 10,509,492 (GRCm39) probably benign Het
Ttn T C 2: 76,711,648 (GRCm39) probably benign Het
Vsig10l C T 7: 43,114,678 (GRCm39) S293L probably damaging Het
Zcchc13 C A X: 102,674,606 (GRCm39) Q110K possibly damaging Het
Other mutations in Man2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-10-07