Incidental Mutation 'R4618:Man2c1'
ID 345105
Institutional Source Beutler Lab
Gene Symbol Man2c1
Ensembl Gene ENSMUSG00000032295
Gene Name mannosidase, alpha, class 2C, member 1
Synonyms 1110025H24Rik
MMRRC Submission 041884-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4618 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 57037953-57049497 bp(+) (GRCm39)
Type of Mutation splice site (645 bp from exon)
DNA Base Change (assembly) T to C at 57049439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139917 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034836] [ENSMUST00000034842] [ENSMUST00000159130] [ENSMUST00000160147] [ENSMUST00000190245] [ENSMUST00000160584] [ENSMUST00000186410] [ENSMUST00000161182] [ENSMUST00000161663]
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 null
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 noncoding transcript
Transcript: ENSMUST00000160280
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162634
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161875
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 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 null
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
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 null
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: 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 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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (89/91)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A T 3: 121,473,095 (GRCm39) K83N unknown Het
Adamtsl3 T A 7: 82,255,728 (GRCm39) M1580K probably benign Het
Adprhl1 A G 8: 13,292,250 (GRCm39) probably null Het
Akap3 G T 6: 126,843,406 (GRCm39) C675F probably benign Het
Asap1 A T 15: 64,024,744 (GRCm39) H318Q probably damaging Het
Atf7ip G T 6: 136,542,104 (GRCm39) A18S probably damaging Het
Bcl2a1a A C 9: 88,839,357 (GRCm39) N85T probably damaging Het
Btnl6 G A 17: 34,733,120 (GRCm39) P248S probably damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Ccdc14 T A 16: 34,526,865 (GRCm39) C257S probably benign Het
Cd5l A G 3: 87,275,926 (GRCm39) T299A probably benign Het
Cstdc3 T A 16: 36,132,952 (GRCm39) D76E possibly damaging Het
Endou C T 15: 97,611,763 (GRCm39) V292M possibly damaging Het
Fbxo36 T C 1: 84,877,749 (GRCm39) I137T probably damaging Het
Fcer1a T C 1: 173,050,208 (GRCm39) I161V possibly damaging Het
Fsip2 A G 2: 82,818,103 (GRCm39) Y4612C probably benign Het
Gcnt2 T A 13: 41,111,670 (GRCm39) L353* probably null Het
Ghrhr T C 6: 55,358,739 (GRCm39) F172S probably damaging Het
Gins1 T A 2: 150,759,781 (GRCm39) probably null Het
Gm16519 T G 17: 71,236,237 (GRCm39) L62R probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Greb1l A G 18: 10,498,965 (GRCm39) T283A probably benign Het
Grin2c T A 11: 115,143,573 (GRCm39) D729V probably damaging Het
Heatr4 T G 12: 84,024,841 (GRCm39) T327P probably damaging Het
Hes2 A C 4: 152,244,845 (GRCm39) S105R probably benign Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Itih1 A T 14: 30,651,788 (GRCm39) D851E probably benign Het
Klhdc7b A G 15: 89,271,472 (GRCm39) T785A probably benign Het
Lmbr1 G T 5: 29,551,863 (GRCm39) A74E probably damaging Het
Lonp1 A C 17: 56,929,511 (GRCm39) H175Q probably benign Het
Maml2 T C 9: 13,531,371 (GRCm39) F195S probably damaging Het
Man2b2 G T 5: 36,974,983 (GRCm39) T436K probably benign Het
Mrps15 G A 4: 125,940,837 (GRCm39) probably benign Het
Mtrf1l C A 10: 5,767,586 (GRCm39) V177F probably benign Het
Naxd A T 8: 11,559,489 (GRCm39) I213F probably damaging Het
Nbeal1 T A 1: 60,267,890 (GRCm39) probably benign Het
Nfatc1 T C 18: 80,741,047 (GRCm39) I318V probably damaging Het
Nid2 T A 14: 19,858,078 (GRCm39) I1297N probably damaging Het
Nol10 T C 12: 17,398,562 (GRCm39) V3A probably damaging Het
Nop14 G T 5: 34,796,562 (GRCm39) P765Q probably damaging Het
Noxa1 C T 2: 24,981,761 (GRCm39) G114D probably damaging Het
Ntmt2 A T 1: 163,552,597 (GRCm39) F10I probably damaging Het
Opa1 T C 16: 29,405,857 (GRCm39) W141R probably damaging Het
Or10a2 G A 7: 106,673,761 (GRCm39) C242Y probably damaging Het
Or13p4 A T 4: 118,546,667 (GRCm39) probably benign Het
Or5d18 A G 2: 87,864,898 (GRCm39) V195A probably benign Het
Or8h10 A G 2: 86,808,618 (GRCm39) I174T possibly damaging Het
Pde4d A T 13: 110,070,411 (GRCm39) M7L probably benign Het
Phykpl G A 11: 51,483,056 (GRCm39) A188T probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pkhd1l1 T A 15: 44,403,078 (GRCm39) V2260D probably damaging Het
Ptprt T C 2: 161,395,765 (GRCm39) E1136G probably damaging Het
Rad21 A T 15: 51,833,420 (GRCm39) L353Q probably damaging Het
Rfx4 G T 10: 84,716,760 (GRCm39) A425S probably benign Het
Rnf38 A G 4: 44,142,450 (GRCm39) S169P probably damaging Het
Samd9l C A 6: 3,376,347 (GRCm39) V305F probably damaging Het
Serpini1 A G 3: 75,523,883 (GRCm39) K164E probably benign Het
Sirt6 A G 10: 81,462,408 (GRCm39) L37P probably damaging Het
Sorbs1 T C 19: 40,361,962 (GRCm39) T141A probably damaging Het
Tacc2 A T 7: 130,227,946 (GRCm39) T1563S probably benign Het
Tbc1d14 A C 5: 36,687,725 (GRCm39) probably benign Het
Tbrg4 G A 11: 6,570,185 (GRCm39) probably benign Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Tpp1 A T 7: 105,400,913 (GRCm39) L38Q probably benign Het
Trhr A G 15: 44,061,037 (GRCm39) N186D probably benign Het
Trmt1l C T 1: 151,329,799 (GRCm39) Q581* probably null Het
Tsen54 T A 11: 115,706,247 (GRCm39) probably benign Het
Tsg101 A G 7: 46,542,257 (GRCm39) I138T possibly damaging Het
Usp22 A G 11: 61,052,269 (GRCm39) S237P probably damaging Het
Vmn1r209 A G 13: 22,990,619 (GRCm39) S24P possibly damaging Het
Vmn2r18 A T 5: 151,508,424 (GRCm39) H233Q possibly damaging Het
Vmn2r45 A T 7: 8,486,436 (GRCm39) I284N probably benign Het
Vmn2r66 T C 7: 84,644,296 (GRCm39) I705V possibly damaging Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zdhhc11 T A 13: 74,127,349 (GRCm39) M242K probably benign Het
Zfp352 A G 4: 90,113,318 (GRCm39) K486R 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
R3772: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
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'- ACACGTCGTTGCCTGTTCAG -3'
(R):5'- TCTGAGATGGAAGCCAGACC -3'

Sequencing Primer
(F):5'- TAGAGGTGGGAGTCCTGCC -3'
(R):5'- TGGAAGCCAGACCCTGCAC -3'
Posted On 2015-09-25