Incidental Mutation 'R3772:Man2c1'
ID 273363
Institutional Source Beutler Lab
Gene Symbol Man2c1
Ensembl Gene ENSMUSG00000032295
Gene Name mannosidase, alpha, class 2C, member 1
Synonyms 1110025H24Rik
MMRRC Submission 040748-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3772 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 57037953-57049497 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 57047661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034836] [ENSMUST00000034842] [ENSMUST00000159130] [ENSMUST00000160147] [ENSMUST00000161663] [ENSMUST00000161182] [ENSMUST00000186410] [ENSMUST00000162915] [ENSMUST00000160584] [ENSMUST00000161338] [ENSMUST00000190245]
AlphaFold Q91W89
Predicted Effect probably benign
Transcript: ENSMUST00000034836
SMART Domains Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Pfam:Glyco_hydro_38 251 510 4.3e-89 PFAM
Alpha-mann_mid 516 593 1.37e-26 SMART
low complexity region 603 613 N/A INTRINSIC
Pfam:Glyco_hydro_38C 619 1029 1.3e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000034842
SMART Domains Protein: ENSMUSP00000034842
Gene: ENSMUSG00000032298

DomainStartEndE-ValueType
Fapy_DNA_glyco 2 124 2.9e-16 SMART
H2TH 139 224 9.35e-2 SMART
Pfam:Neil1-DNA_bind 252 290 2.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159101
SMART Domains Protein: ENSMUSP00000124304
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
Alpha-mann_mid 21 100 1.22e-32 SMART
low complexity region 110 120 N/A INTRINSIC
low complexity region 164 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159711
Predicted Effect probably benign
Transcript: ENSMUST00000160147
SMART Domains Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Pfam:Glyco_hydro_38 251 510 2.8e-86 PFAM
Alpha-mann_mid 516 595 1.22e-32 SMART
low complexity region 605 615 N/A INTRINSIC
Pfam:Glyco_hydro_38C 621 1031 1.2e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162634
Predicted Effect probably benign
Transcript: ENSMUST00000161663
SMART Domains Protein: ENSMUSP00000124124
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Pfam:Glyco_hydro_38 302 551 1.8e-81 PFAM
Alpha-mann_mid 557 636 1.22e-32 SMART
low complexity region 646 656 N/A INTRINSIC
Pfam:Glyco_hydro_38C 662 866 1.2e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159843
Predicted Effect probably benign
Transcript: ENSMUST00000160426
SMART Domains Protein: ENSMUSP00000124005
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
Alpha-mann_mid 24 77 4.48e-1 SMART
low complexity region 87 97 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161182
SMART Domains Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
Pfam:Glyco_hydro_38 175 411 9.4e-67 PFAM
Alpha-mann_mid 417 496 1.22e-32 SMART
low complexity region 506 516 N/A INTRINSIC
Pfam:Glyco_hydro_38C 522 932 1.1e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161875
Predicted Effect probably benign
Transcript: ENSMUST00000186410
SMART Domains Protein: ENSMUSP00000141048
Gene: ENSMUSG00000032298

DomainStartEndE-ValueType
Fapy_DNA_glyco 2 124 2.9e-16 SMART
H2TH 139 224 9.35e-2 SMART
Pfam:Neil1-DNA_bind 252 290 2.1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162915
Predicted Effect probably benign
Transcript: ENSMUST00000160584
SMART Domains Protein: ENSMUSP00000123840
Gene: ENSMUSG00000032295

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161338
Predicted Effect probably benign
Transcript: ENSMUST00000190245
SMART Domains Protein: ENSMUSP00000139917
Gene: ENSMUSG00000032298

DomainStartEndE-ValueType
Fapy_DNA_glyco 2 124 2.9e-16 SMART
H2TH 139 224 9.35e-2 SMART
Pfam:Neil1-DNA_bind 252 290 2.1e-29 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (77/77)
MGI Phenotype PHENOTYPE: Germ line null mutants display neuronal and glia degeneration, glycogen accumulation, and liver and kidney damage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,159,720 (GRCm39) probably benign Het
Adgrl1 A G 8: 84,649,633 (GRCm39) N97S possibly damaging Het
Aldh1a2 A G 9: 71,160,202 (GRCm39) D76G probably damaging Het
Aldh3a1 A G 11: 61,105,431 (GRCm39) E179G possibly damaging Het
Ap1g1 A G 8: 110,564,418 (GRCm39) D324G probably damaging Het
Arfgap2 A G 2: 91,095,711 (GRCm39) T12A probably benign Het
Aurka A G 2: 172,208,880 (GRCm39) L85P probably benign Het
Birc6 T A 17: 74,925,424 (GRCm39) probably benign Het
Bmp7 A T 2: 172,712,015 (GRCm39) I403N probably damaging Het
Carns1 A G 19: 4,220,915 (GRCm39) probably benign Het
Ccdc88c G A 12: 100,932,359 (GRCm39) probably benign Het
Ccl2 C T 11: 81,927,784 (GRCm39) A76V probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Clstn2 A G 9: 97,464,615 (GRCm39) I180T probably damaging Het
Col24a1 T C 3: 145,251,041 (GRCm39) L1680P probably damaging Het
Col4a6 C A X: 139,955,196 (GRCm39) G1416C probably damaging Het
Ctnna2 T G 6: 76,950,752 (GRCm39) N573T probably damaging Het
Cts8 G A 13: 61,398,715 (GRCm39) probably benign Het
Cxcl17 A G 7: 25,099,754 (GRCm39) probably benign Het
Defb18 T C 1: 18,306,845 (GRCm39) H37R possibly damaging Het
Dis3l2 T C 1: 86,782,130 (GRCm39) I229T probably benign Het
Dysf G A 6: 84,129,333 (GRCm39) S1474N possibly damaging Het
Elf1 T C 14: 79,804,650 (GRCm39) V105A possibly damaging Het
F13a1 T C 13: 37,082,108 (GRCm39) K532R probably benign Het
Fmn1 T G 2: 113,412,463 (GRCm39) S996A probably damaging Het
Focad A C 4: 88,254,398 (GRCm39) probably benign Het
Frmd4a A T 2: 4,595,433 (GRCm39) E109D probably damaging Het
Frrs1 T G 3: 116,672,036 (GRCm39) S45A possibly damaging Het
Gm5422 T A 10: 31,124,510 (GRCm39) noncoding transcript Het
Gm5866 T C 5: 52,740,088 (GRCm39) noncoding transcript Het
Hmcn2 C T 2: 31,250,908 (GRCm39) T790M probably damaging Het
Iglon5 A T 7: 43,130,037 (GRCm39) Y42* probably null Het
Khdrbs2 C T 1: 32,283,157 (GRCm39) Q90* probably null Het
Krt74 T C 15: 101,670,630 (GRCm39) noncoding transcript Het
Lamc2 T A 1: 152,999,997 (GRCm39) M1121L probably benign Het
Lrig1 A G 6: 94,582,798 (GRCm39) L1073P probably benign Het
Lrp5 G A 19: 3,662,330 (GRCm39) R173C probably damaging Het
Megf10 G A 18: 57,416,934 (GRCm39) D768N probably benign Het
Mycbp2 T C 14: 103,371,224 (GRCm39) N4108S possibly damaging Het
Nid1 A G 13: 13,651,003 (GRCm39) probably benign Het
Nnt A G 13: 119,533,488 (GRCm39) V59A probably damaging Het
Nsd1 G A 13: 55,394,486 (GRCm39) V696I probably benign Het
Or1o4 T C 17: 37,590,745 (GRCm39) T189A probably benign Het
Pag1 G A 3: 9,764,688 (GRCm39) T155M probably benign Het
Pgam5 T C 5: 110,413,459 (GRCm39) H176R probably damaging Het
Pid1 T C 1: 84,015,918 (GRCm39) D149G probably damaging Het
Pkp3 G A 7: 140,662,259 (GRCm39) M1I probably null Het
Pld2 C T 11: 70,434,949 (GRCm39) probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptprs T C 17: 56,735,978 (GRCm39) T152A possibly damaging Het
Rab9b T A X: 135,762,198 (GRCm39) E67D probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rnf214 T C 9: 45,777,932 (GRCm39) M625V possibly damaging Het
Rwdd2a A C 9: 86,456,214 (GRCm39) N130T possibly damaging Het
Scn9a T C 2: 66,313,992 (GRCm39) N1909D probably benign Het
Septin10 A T 10: 59,012,709 (GRCm39) M303K probably damaging Het
Sez6l2 A G 7: 126,558,375 (GRCm39) E339G probably damaging Het
Sf3b1 C A 1: 55,039,150 (GRCm39) probably benign Het
Shisal1 A T 15: 84,290,886 (GRCm39) Y120* probably null Het
Ska3 C T 14: 58,047,534 (GRCm39) V334I probably benign Het
Srebf2 A G 15: 82,066,309 (GRCm39) K579R probably benign Het
St18 A T 1: 6,914,553 (GRCm39) K799I probably damaging Het
Strada C T 11: 106,055,648 (GRCm39) R333Q probably damaging Het
Stradb A T 1: 59,024,544 (GRCm39) I64L probably benign Het
Sun1 A G 5: 139,224,575 (GRCm39) probably benign Het
Tecta T C 9: 42,242,292 (GRCm39) T2094A probably damaging Het
Tenm4 A T 7: 96,344,087 (GRCm39) R227W probably damaging Het
Tnk2 A G 16: 32,498,640 (GRCm39) D651G probably damaging Het
Trim43c A T 9: 88,729,810 (GRCm39) D417V probably damaging Het
Tsc22d4 T C 5: 137,757,495 (GRCm39) L374P possibly damaging Het
Ttn T C 2: 76,601,711 (GRCm39) T16872A probably benign Het
Ubr4 T C 4: 139,180,011 (GRCm39) V262A possibly damaging Het
Vmn2r60 A T 7: 41,765,980 (GRCm39) N29I probably benign Het
Xrn2 T C 2: 146,903,207 (GRCm39) V765A probably benign Het
Zbed4 C T 15: 88,664,990 (GRCm39) P353S probably benign Het
Zfp251 A G 15: 76,737,836 (GRCm39) I414T possibly damaging Het
Zfp426 A T 9: 20,384,413 (GRCm39) probably null Het
Zwilch A T 9: 64,063,316 (GRCm39) F286I probably benign Het
Other mutations in Man2c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01314:Man2c1 APN 9 57,049,103 (GRCm39) missense probably benign
IGL01408:Man2c1 APN 9 57,048,884 (GRCm39) missense probably damaging 1.00
IGL01618:Man2c1 APN 9 57,048,840 (GRCm39) unclassified probably benign
IGL01750:Man2c1 APN 9 57,048,064 (GRCm39) critical splice donor site probably null
IGL01796:Man2c1 APN 9 57,045,244 (GRCm39) missense possibly damaging 0.52
IGL02661:Man2c1 APN 9 57,044,766 (GRCm39) missense probably damaging 1.00
IGL03166:Man2c1 APN 9 57,046,382 (GRCm39) missense probably damaging 1.00
IGL03176:Man2c1 APN 9 57,048,030 (GRCm39) missense probably benign 0.05
IGL03209:Man2c1 APN 9 57,049,114 (GRCm39) missense probably benign 0.00
R0014:Man2c1 UTSW 9 57,046,985 (GRCm39) missense probably benign 0.00
R0329:Man2c1 UTSW 9 57,048,467 (GRCm39) missense probably benign 0.40
R0432:Man2c1 UTSW 9 57,042,881 (GRCm39) missense probably damaging 1.00
R1448:Man2c1 UTSW 9 57,042,503 (GRCm39) missense probably benign 0.23
R1616:Man2c1 UTSW 9 57,042,793 (GRCm39) missense probably benign 0.00
R1838:Man2c1 UTSW 9 57,044,621 (GRCm39) missense probably benign 0.07
R2511:Man2c1 UTSW 9 57,048,672 (GRCm39) splice site probably null
R3751:Man2c1 UTSW 9 57,048,058 (GRCm39) missense probably damaging 1.00
R3771:Man2c1 UTSW 9 57,047,661 (GRCm39) unclassified probably benign
R4110:Man2c1 UTSW 9 57,044,055 (GRCm39) missense probably damaging 0.98
R4116:Man2c1 UTSW 9 57,047,589 (GRCm39) critical splice donor site probably null
R4167:Man2c1 UTSW 9 57,045,310 (GRCm39) missense probably benign 0.15
R4169:Man2c1 UTSW 9 57,045,310 (GRCm39) missense probably benign 0.15
R4170:Man2c1 UTSW 9 57,045,310 (GRCm39) missense probably benign 0.15
R4405:Man2c1 UTSW 9 57,046,367 (GRCm39) missense probably damaging 0.98
R4551:Man2c1 UTSW 9 57,038,445 (GRCm39) missense probably damaging 1.00
R4618:Man2c1 UTSW 9 57,049,439 (GRCm39) splice site probably null
R4798:Man2c1 UTSW 9 57,048,469 (GRCm39) nonsense probably null
R4903:Man2c1 UTSW 9 57,046,240 (GRCm39) missense probably benign 0.08
R5030:Man2c1 UTSW 9 57,047,923 (GRCm39) missense probably benign 0.00
R5079:Man2c1 UTSW 9 57,044,000 (GRCm39) missense probably damaging 1.00
R5086:Man2c1 UTSW 9 57,038,924 (GRCm39) missense probably damaging 0.96
R6430:Man2c1 UTSW 9 57,038,517 (GRCm39) missense possibly damaging 0.91
R6695:Man2c1 UTSW 9 57,048,875 (GRCm39) missense probably benign 0.03
R6743:Man2c1 UTSW 9 57,042,849 (GRCm39) missense probably benign 0.41
R7011:Man2c1 UTSW 9 57,045,117 (GRCm39) missense probably damaging 1.00
R7493:Man2c1 UTSW 9 57,048,412 (GRCm39) missense probably damaging 0.98
R7513:Man2c1 UTSW 9 57,046,683 (GRCm39) missense probably benign 0.44
R7527:Man2c1 UTSW 9 57,045,100 (GRCm39) nonsense probably null
R7540:Man2c1 UTSW 9 57,047,559 (GRCm39) missense probably damaging 1.00
R7760:Man2c1 UTSW 9 57,046,647 (GRCm39) missense probably benign 0.23
R7868:Man2c1 UTSW 9 57,045,270 (GRCm39) missense probably damaging 0.99
R8261:Man2c1 UTSW 9 57,046,942 (GRCm39) missense probably benign 0.17
R8397:Man2c1 UTSW 9 57,042,783 (GRCm39) missense probably benign 0.01
R8429:Man2c1 UTSW 9 57,038,445 (GRCm39) missense probably damaging 1.00
R8519:Man2c1 UTSW 9 57,044,061 (GRCm39) missense probably benign 0.12
R8530:Man2c1 UTSW 9 57,038,922 (GRCm39) missense probably damaging 1.00
R8544:Man2c1 UTSW 9 57,038,325 (GRCm39) splice site probably null
R8925:Man2c1 UTSW 9 57,048,456 (GRCm39) nonsense probably null
R8927:Man2c1 UTSW 9 57,048,456 (GRCm39) nonsense probably null
R8960:Man2c1 UTSW 9 57,045,279 (GRCm39) missense probably damaging 1.00
R9171:Man2c1 UTSW 9 57,044,317 (GRCm39) nonsense probably null
R9326:Man2c1 UTSW 9 57,042,904 (GRCm39) missense probably damaging 1.00
R9414:Man2c1 UTSW 9 57,044,030 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GTCCCCACCAATTATAGCTGG -3'
(R):5'- GCCATTTCTACCTCAGTGTGG -3'

Sequencing Primer
(F):5'- TTCCAGGGAAGCCATTGC -3'
(R):5'- CATTTCTACCTCAGTGTGGAAGCG -3'
Posted On 2015-03-25