Incidental Mutation 'R6430:Man2c1'
ID 518489
Institutional Source Beutler Lab
Gene Symbol Man2c1
Ensembl Gene ENSMUSG00000032295
Gene Name mannosidase, alpha, class 2C, member 1
Synonyms 1110025H24Rik
MMRRC Submission 044568-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6430 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 57037953-57049497 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57038517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 59 (V59A)
Ref Sequence ENSEMBL: ENSMUSP00000125186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034836] [ENSMUST00000049169] [ENSMUST00000159130] [ENSMUST00000160147] [ENSMUST00000160584] [ENSMUST00000161182] [ENSMUST00000161393] [ENSMUST00000161663] [ENSMUST00000162915] [ENSMUST00000168177] [ENSMUST00000168502] [ENSMUST00000168678] [ENSMUST00000161338] [ENSMUST00000167715]
AlphaFold Q91W89
Predicted Effect probably benign
Transcript: ENSMUST00000034836
AA Change: V59A

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000034836
Gene: ENSMUSG00000032295
AA Change: V59A

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: ENSMUST00000049169
SMART Domains Protein: ENSMUSP00000045044
Gene: ENSMUSG00000042557

DomainStartEndE-ValueType
low complexity region 98 119 N/A INTRINSIC
Pfam:PAH 141 187 1.4e-19 PFAM
low complexity region 217 248 N/A INTRINSIC
low complexity region 267 282 N/A INTRINSIC
Pfam:PAH 322 381 1.8e-23 PFAM
Pfam:PAH 478 524 4e-16 PFAM
HDAC_interact 551 651 3.31e-61 SMART
low complexity region 834 847 N/A INTRINSIC
low complexity region 915 930 N/A INTRINSIC
low complexity region 1135 1151 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142077
Predicted Effect possibly damaging
Transcript: ENSMUST00000159130
AA Change: V59A

PolyPhen 2 Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160122
Predicted Effect probably benign
Transcript: ENSMUST00000160147
AA Change: V59A

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125478
Gene: ENSMUSG00000032295
AA Change: V59A

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: ENSMUST00000160584
AA Change: V59A

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123840
Gene: ENSMUSG00000032295
AA Change: V59A

DomainStartEndE-ValueType
low complexity region 187 195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161182
AA Change: V59A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124020
Gene: ENSMUSG00000032295
AA Change: V59A

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 possibly damaging
Transcript: ENSMUST00000161393
AA Change: V59A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000161663
AA Change: V59A

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124124
Gene: ENSMUSG00000032295
AA Change: V59A

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 possibly damaging
Transcript: ENSMUST00000162915
AA Change: V59A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000168177
SMART Domains Protein: ENSMUSP00000130221
Gene: ENSMUSG00000042557

DomainStartEndE-ValueType
low complexity region 98 119 N/A INTRINSIC
Pfam:PAH 142 186 5.3e-22 PFAM
low complexity region 217 248 N/A INTRINSIC
low complexity region 267 282 N/A INTRINSIC
Pfam:PAH 323 380 9.6e-22 PFAM
Pfam:PAH 479 523 8.1e-11 PFAM
HDAC_interact 551 651 3.31e-61 SMART
low complexity region 834 847 N/A INTRINSIC
Pfam:Sin3a_C 887 1190 1.2e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168502
SMART Domains Protein: ENSMUSP00000128956
Gene: ENSMUSG00000042557

DomainStartEndE-ValueType
low complexity region 98 119 N/A INTRINSIC
Pfam:PAH 141 187 1.4e-19 PFAM
low complexity region 217 248 N/A INTRINSIC
low complexity region 267 282 N/A INTRINSIC
Pfam:PAH 322 381 1.8e-23 PFAM
Pfam:PAH 478 524 4e-16 PFAM
HDAC_interact 551 651 3.31e-61 SMART
low complexity region 834 847 N/A INTRINSIC
low complexity region 915 930 N/A INTRINSIC
low complexity region 1138 1154 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161696
Predicted Effect probably benign
Transcript: ENSMUST00000168678
SMART Domains Protein: ENSMUSP00000126601
Gene: ENSMUSG00000042557

DomainStartEndE-ValueType
low complexity region 98 119 N/A INTRINSIC
Pfam:PAH 141 187 1.4e-19 PFAM
low complexity region 217 248 N/A INTRINSIC
low complexity region 267 282 N/A INTRINSIC
Pfam:PAH 322 381 1.8e-23 PFAM
Pfam:PAH 478 524 4e-16 PFAM
HDAC_interact 551 651 3.31e-61 SMART
low complexity region 834 847 N/A INTRINSIC
low complexity region 915 930 N/A INTRINSIC
low complexity region 1135 1151 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161338
Predicted Effect probably benign
Transcript: ENSMUST00000167715
SMART Domains Protein: ENSMUSP00000130641
Gene: ENSMUSG00000042557

DomainStartEndE-ValueType
low complexity region 98 119 N/A INTRINSIC
Pfam:PAH 141 187 1.4e-19 PFAM
low complexity region 217 248 N/A INTRINSIC
low complexity region 267 282 N/A INTRINSIC
Pfam:PAH 322 381 1.8e-23 PFAM
Pfam:PAH 478 524 4e-16 PFAM
HDAC_interact 551 651 3.31e-61 SMART
low complexity region 834 847 N/A INTRINSIC
low complexity region 915 930 N/A INTRINSIC
low complexity region 1135 1151 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (47/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI661453 C A 17: 47,777,722 (GRCm39) probably benign Het
Ank1 T A 8: 23,622,125 (GRCm39) L1513Q probably damaging Het
Ap2a1 C A 7: 44,553,253 (GRCm39) V676L probably benign Het
Arid2 T C 15: 96,261,575 (GRCm39) V477A probably benign Het
Auh C A 13: 53,083,446 (GRCm39) G17C probably benign Het
B3gnt7 T C 1: 86,233,839 (GRCm39) F362L possibly damaging Het
Cd207 C T 6: 83,652,869 (GRCm39) R87H probably benign Het
Cdyl A G 13: 36,055,589 (GRCm39) K503R possibly damaging Het
Cep350 A G 1: 155,770,419 (GRCm39) S1824P probably damaging Het
Cmas T A 6: 142,713,650 (GRCm39) M225K probably benign Het
Dhx29 T C 13: 113,081,153 (GRCm39) S396P possibly damaging Het
Epg5 T C 18: 78,019,100 (GRCm39) S958P probably damaging Het
Espnl T C 1: 91,249,970 (GRCm39) L39P possibly damaging Het
Fcsk A G 8: 111,610,748 (GRCm39) V915A probably benign Het
Flacc1 T A 1: 58,717,448 (GRCm39) K154N probably damaging Het
Gatb A G 3: 85,544,345 (GRCm39) N438D probably benign Het
Hspg2 T C 4: 137,266,707 (GRCm39) C1932R probably damaging Het
Jmjd1c C T 10: 67,059,939 (GRCm39) T662I possibly damaging Het
Kcng4 A G 8: 120,359,789 (GRCm39) S196P probably damaging Het
Kcnh7 T G 2: 62,680,876 (GRCm39) H237P probably benign Het
Klhl38 T C 15: 58,185,707 (GRCm39) T341A probably benign Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Nr2c1 A T 10: 94,031,203 (GRCm39) H588L possibly damaging Het
Or14a259 A T 7: 86,013,181 (GRCm39) Y121* probably null Het
Or2j3 T C 17: 38,616,249 (GRCm39) I34M probably benign Het
Osbpl6 A G 2: 76,409,620 (GRCm39) E494G probably damaging Het
Per1 T C 11: 68,995,122 (GRCm39) L638S probably damaging Het
Plekhn1 T C 4: 156,306,261 (GRCm39) E603G probably benign Het
Prss12 A T 3: 123,273,243 (GRCm39) S280C probably damaging Het
Pudp A G 18: 50,701,307 (GRCm39) I142T probably benign Het
Rabl6 A T 2: 25,474,849 (GRCm39) N620K probably damaging Het
Rttn T A 18: 89,039,809 (GRCm39) C837S probably null Het
Slc16a7 A G 10: 125,066,887 (GRCm39) S251P probably damaging Het
Slc7a10 A G 7: 34,897,083 (GRCm39) I195V probably benign Het
Slc9a4 A T 1: 40,640,014 (GRCm39) R269* probably null Het
Slco6c1 T A 1: 97,003,699 (GRCm39) Q466L probably benign Het
Smc6 A G 12: 11,359,235 (GRCm39) N953S probably benign Het
Tex15 T C 8: 34,061,329 (GRCm39) V527A probably benign Het
Tln2 T C 9: 67,179,947 (GRCm39) Y808C probably damaging Het
Tmem145 T C 7: 25,008,463 (GRCm39) L289P possibly damaging Het
Trim3 A G 7: 105,267,212 (GRCm39) V389A probably benign Het
Vmn1r3 G A 4: 3,184,971 (GRCm39) T112I probably benign Het
Vps11 C A 9: 44,272,847 (GRCm39) A28S probably benign Het
Zbtb41 T A 1: 139,374,945 (GRCm39) S802T probably benign Het
Zmynd10 A T 9: 107,425,911 (GRCm39) K82* probably null 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
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
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'- TTAGCCAAGGGAGAGCGTTTC -3'
(R):5'- GTGCAGCATCAGAGAAATGGTC -3'

Sequencing Primer
(F):5'- AAGGGAGAGCGTTTCCCCAG -3'
(R):5'- GCAGCAGGGATGAAAATACTC -3'
Posted On 2018-05-24