Incidental Mutation 'R0564:Mcc'
ID 46096
Institutional Source Beutler Lab
Gene Symbol Mcc
Ensembl Gene ENSMUSG00000071856
Gene Name mutated in colorectal cancers
Synonyms D18Ertd451e
MMRRC Submission 038755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0564 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 44558127-44945249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44601574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 410 (L410P)
Ref Sequence ENSEMBL: ENSMUSP00000128032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089874] [ENSMUST00000164666]
AlphaFold E9PWI3
Predicted Effect probably damaging
Transcript: ENSMUST00000089874
AA Change: L585P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: L585P

DomainStartEndE-ValueType
low complexity region 9 23 N/A INTRINSIC
EFh 24 52 1.36e-3 SMART
EFh 57 85 7.36e0 SMART
coiled coil region 196 308 N/A INTRINSIC
coiled coil region 395 466 N/A INTRINSIC
low complexity region 488 493 N/A INTRINSIC
low complexity region 512 517 N/A INTRINSIC
low complexity region 523 537 N/A INTRINSIC
Pfam:MCC-bdg_PDZ 577 641 2.6e-32 PFAM
low complexity region 715 731 N/A INTRINSIC
coiled coil region 738 834 N/A INTRINSIC
low complexity region 853 863 N/A INTRINSIC
Pfam:MCC-bdg_PDZ 906 972 1.1e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164666
AA Change: L410P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128032
Gene: ENSMUSG00000071856
AA Change: L410P

DomainStartEndE-ValueType
coiled coil region 21 133 N/A INTRINSIC
Pfam:MCC-bdg_PDZ 233 289 1.2e-14 PFAM
low complexity region 313 318 N/A INTRINSIC
low complexity region 337 342 N/A INTRINSIC
low complexity region 348 362 N/A INTRINSIC
Pfam:MCC-bdg_PDZ 401 467 3.8e-32 PFAM
low complexity region 540 556 N/A INTRINSIC
coiled coil region 563 659 N/A INTRINSIC
low complexity region 678 688 N/A INTRINSIC
Pfam:MCC-bdg_PDZ 730 798 1.3e-27 PFAM
Meta Mutation Damage Score 0.3823 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for hypomorphic or null mutations are viable and fertile with no gross abnormalities. [provided by MGI curators]
Allele List at MGI

All alleles(29) : Targeted(2) Gene trapped(27)

Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl5 A G 10: 80,180,681 (GRCm39) V127A probably damaging Het
Alox12 T A 11: 70,143,662 (GRCm39) D202V probably damaging Het
Ankib1 A G 5: 3,779,655 (GRCm39) Y405H probably damaging Het
Apbb2 A T 5: 66,609,593 (GRCm39) M18K probably damaging Het
Atad2 C A 15: 57,989,229 (GRCm39) probably benign Het
Birc6 T A 17: 74,932,238 (GRCm39) probably benign Het
Ccdc126 T C 6: 49,311,076 (GRCm39) M28T possibly damaging Het
Cdc16 A T 8: 13,831,618 (GRCm39) D617V probably damaging Het
Cep135 G A 5: 76,763,557 (GRCm39) E516K probably damaging Het
Cep135 G T 5: 76,786,796 (GRCm39) M1081I probably benign Het
Col6a3 A C 1: 90,735,456 (GRCm39) V731G probably damaging Het
Cstdc6 A T 16: 36,143,346 (GRCm39) Y34* probably null Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Dip2b C A 15: 100,060,600 (GRCm39) Y258* probably null Het
Dnah17 A G 11: 117,973,807 (GRCm39) V1900A probably damaging Het
Dpysl2 A T 14: 67,042,895 (GRCm39) probably benign Het
Dync2h1 A T 9: 7,139,432 (GRCm39) L1401Q probably damaging Het
Esf1 A T 2: 140,000,506 (GRCm39) Y427N possibly damaging Het
Fbln1 T A 15: 85,111,308 (GRCm39) V154D probably benign Het
Frem2 A G 3: 53,563,530 (GRCm39) F326L probably damaging Het
Gm4922 T A 10: 18,659,813 (GRCm39) N303I possibly damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Iigp1 G A 18: 60,523,523 (GRCm39) V214M probably damaging Het
Luzp2 A G 7: 54,485,710 (GRCm39) K2E probably damaging Het
Mfn2 A G 4: 147,967,712 (GRCm39) F452S probably damaging Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Micu2 A G 14: 58,156,831 (GRCm39) F335L possibly damaging Het
Mpp3 T G 11: 101,896,173 (GRCm39) K450T possibly damaging Het
Mtmr4 T A 11: 87,489,714 (GRCm39) V79E probably damaging Het
Nlrp4b A G 7: 10,448,585 (GRCm39) I263V probably benign Het
Or52p2 T C 7: 102,237,738 (GRCm39) I71V probably benign Het
Or6c76 T G 10: 129,612,005 (GRCm39) V74G probably damaging Het
Pdk1 G A 2: 71,710,383 (GRCm39) W113* probably null Het
Phaf1 T A 8: 105,966,603 (GRCm39) probably benign Het
Phxr4 A T 9: 13,342,993 (GRCm39) probably benign Het
Rad51ap2 T A 12: 11,507,897 (GRCm39) H606Q probably benign Het
Ralgapa1 A T 12: 55,829,670 (GRCm39) I187K possibly damaging Het
Rps27 A G 3: 90,120,230 (GRCm39) probably benign Het
Sema3e T A 5: 14,286,099 (GRCm39) probably null Het
Sh2d3c G A 2: 32,643,064 (GRCm39) C749Y probably damaging Het
Siah2 T C 3: 58,583,656 (GRCm39) D210G probably benign Het
Smap2 G A 4: 120,834,174 (GRCm39) P155S probably benign Het
Snrk C T 9: 121,995,610 (GRCm39) T463M possibly damaging Het
Tm9sf3 A G 19: 41,233,964 (GRCm39) probably benign Het
Tmem132d C T 5: 127,861,842 (GRCm39) E760K probably damaging Het
Tmem184c A T 8: 78,332,789 (GRCm39) probably null Het
Tmem235 A T 11: 117,751,674 (GRCm39) I33F possibly damaging Het
Tmem267 A T 13: 119,629,175 (GRCm39) probably null Het
Top1 G A 2: 160,556,185 (GRCm39) R548Q probably damaging Het
Trio T C 15: 27,805,908 (GRCm39) N527D probably damaging Het
Upf3a A G 8: 13,845,656 (GRCm39) K252E probably benign Het
Other mutations in Mcc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Mcc APN 18 44,582,283 (GRCm39) missense possibly damaging 0.93
IGL00981:Mcc APN 18 44,582,416 (GRCm39) missense probably damaging 0.99
IGL00985:Mcc APN 18 44,624,306 (GRCm39) missense probably damaging 1.00
IGL01674:Mcc APN 18 44,624,223 (GRCm39) missense probably benign 0.10
IGL01862:Mcc APN 18 44,892,363 (GRCm39) missense probably benign 0.00
IGL01935:Mcc APN 18 44,652,583 (GRCm39) critical splice donor site probably null
IGL02168:Mcc APN 18 44,582,366 (GRCm39) missense probably damaging 0.97
IGL02449:Mcc APN 18 44,593,025 (GRCm39) missense probably benign 0.10
IGL02613:Mcc APN 18 44,563,021 (GRCm39) missense probably damaging 1.00
IGL02709:Mcc APN 18 44,578,877 (GRCm39) missense possibly damaging 0.73
R0009:Mcc UTSW 18 44,579,000 (GRCm39) missense probably damaging 1.00
R0009:Mcc UTSW 18 44,579,000 (GRCm39) missense probably damaging 1.00
R0021:Mcc UTSW 18 44,652,583 (GRCm39) critical splice donor site probably benign
R0022:Mcc UTSW 18 44,652,583 (GRCm39) critical splice donor site probably benign
R0062:Mcc UTSW 18 44,652,583 (GRCm39) critical splice donor site probably benign
R0062:Mcc UTSW 18 44,652,583 (GRCm39) critical splice donor site probably benign
R0063:Mcc UTSW 18 44,652,583 (GRCm39) critical splice donor site probably benign
R0064:Mcc UTSW 18 44,652,583 (GRCm39) critical splice donor site probably benign
R0217:Mcc UTSW 18 44,652,583 (GRCm39) critical splice donor site probably benign
R0218:Mcc UTSW 18 44,652,583 (GRCm39) critical splice donor site probably benign
R0243:Mcc UTSW 18 44,892,366 (GRCm39) missense probably benign
R0373:Mcc UTSW 18 44,608,289 (GRCm39) missense probably benign 0.01
R0604:Mcc UTSW 18 44,606,823 (GRCm39) missense probably damaging 1.00
R0691:Mcc UTSW 18 44,578,927 (GRCm39) missense possibly damaging 0.67
R0965:Mcc UTSW 18 44,857,593 (GRCm39) missense probably benign 0.41
R1015:Mcc UTSW 18 44,857,736 (GRCm39) missense probably benign
R1186:Mcc UTSW 18 44,892,470 (GRCm39) missense probably benign
R1215:Mcc UTSW 18 44,601,561 (GRCm39) missense possibly damaging 0.93
R1878:Mcc UTSW 18 44,601,467 (GRCm39) missense possibly damaging 0.69
R1990:Mcc UTSW 18 44,624,382 (GRCm39) nonsense probably null
R1991:Mcc UTSW 18 44,624,382 (GRCm39) nonsense probably null
R1992:Mcc UTSW 18 44,624,382 (GRCm39) nonsense probably null
R2186:Mcc UTSW 18 44,945,145 (GRCm39) missense possibly damaging 0.71
R2189:Mcc UTSW 18 44,667,297 (GRCm39) missense possibly damaging 0.93
R2258:Mcc UTSW 18 44,608,203 (GRCm39) missense probably damaging 1.00
R2267:Mcc UTSW 18 44,652,608 (GRCm39) missense probably damaging 0.99
R2310:Mcc UTSW 18 44,564,433 (GRCm39) missense probably damaging 1.00
R2343:Mcc UTSW 18 44,592,864 (GRCm39) critical splice donor site probably null
R2377:Mcc UTSW 18 44,652,616 (GRCm39) missense probably damaging 1.00
R3110:Mcc UTSW 18 44,582,330 (GRCm39) missense probably damaging 1.00
R3112:Mcc UTSW 18 44,582,330 (GRCm39) missense probably damaging 1.00
R4135:Mcc UTSW 18 44,857,707 (GRCm39) missense probably benign 0.03
R4404:Mcc UTSW 18 44,892,365 (GRCm39) missense probably benign
R4600:Mcc UTSW 18 44,652,587 (GRCm39) missense probably damaging 1.00
R4606:Mcc UTSW 18 44,601,488 (GRCm39) missense probably damaging 0.96
R4721:Mcc UTSW 18 44,652,623 (GRCm39) missense probably damaging 1.00
R5858:Mcc UTSW 18 44,643,208 (GRCm39) missense probably damaging 0.98
R5997:Mcc UTSW 18 44,582,388 (GRCm39) missense probably damaging 1.00
R6482:Mcc UTSW 18 44,578,931 (GRCm39) missense possibly damaging 0.94
R6502:Mcc UTSW 18 44,601,458 (GRCm39) missense probably damaging 1.00
R6502:Mcc UTSW 18 44,601,457 (GRCm39) nonsense probably null
R6518:Mcc UTSW 18 44,794,878 (GRCm39) start gained probably benign
R6796:Mcc UTSW 18 44,857,627 (GRCm39) missense probably benign
R6846:Mcc UTSW 18 44,606,707 (GRCm39) missense possibly damaging 0.63
R6879:Mcc UTSW 18 44,945,179 (GRCm39) missense unknown
R7147:Mcc UTSW 18 44,626,580 (GRCm39) missense probably damaging 0.99
R7475:Mcc UTSW 18 44,609,303 (GRCm39) missense probably damaging 0.98
R7515:Mcc UTSW 18 44,626,499 (GRCm39) missense probably benign 0.02
R7608:Mcc UTSW 18 44,624,294 (GRCm39) missense possibly damaging 0.83
R8092:Mcc UTSW 18 44,892,299 (GRCm39) missense probably benign 0.00
R8119:Mcc UTSW 18 44,601,500 (GRCm39) missense possibly damaging 0.95
R8162:Mcc UTSW 18 44,582,508 (GRCm39) critical splice acceptor site probably null
R8187:Mcc UTSW 18 44,667,327 (GRCm39) missense possibly damaging 0.53
R8716:Mcc UTSW 18 44,582,403 (GRCm39) missense possibly damaging 0.92
R8744:Mcc UTSW 18 44,857,639 (GRCm39) missense probably benign
R9383:Mcc UTSW 18 44,575,985 (GRCm39) missense probably benign 0.24
R9517:Mcc UTSW 18 44,794,794 (GRCm39) missense probably damaging 1.00
R9570:Mcc UTSW 18 44,578,925 (GRCm39) missense probably damaging 0.97
R9590:Mcc UTSW 18 44,592,977 (GRCm39) missense possibly damaging 0.93
X0010:Mcc UTSW 18 44,563,024 (GRCm39) missense possibly damaging 0.94
Z1177:Mcc UTSW 18 44,624,313 (GRCm39) missense probably benign 0.04
Predicted Primers
Posted On 2013-06-11