Incidental Mutation 'R5997:Mcc'
ID 480660
Institutional Source Beutler Lab
Gene Symbol Mcc
Ensembl Gene ENSMUSG00000071856
Gene Name mutated in colorectal cancers
Synonyms D18Ertd451e
MMRRC Submission 044176-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5997 (G1)
Quality Score 205.009
Status Validated
Chromosome 18
Chromosomal Location 44558127-44945249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44582388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 588 (L588M)
Ref Sequence ENSEMBL: ENSMUSP00000128032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089874] [ENSMUST00000164666]
AlphaFold E9PWI3
Predicted Effect possibly damaging
Transcript: ENSMUST00000089874
AA Change: L763M

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000087318
Gene: ENSMUSG00000071856
AA Change: L763M

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: L588M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128032
Gene: ENSMUSG00000071856
AA Change: L588M

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 0.0740 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.5%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 A T 5: 124,227,878 (GRCm39) V121E possibly damaging Het
Acsbg3 A T 17: 57,183,373 (GRCm39) D38V probably benign Het
Adamts20 T A 15: 94,277,628 (GRCm39) Y278F probably damaging Het
Adcy7 A T 8: 89,053,020 (GRCm39) D972V probably benign Het
Adgrf3 C A 5: 30,403,360 (GRCm39) probably null Het
Ahdc1 G T 4: 132,791,206 (GRCm39) G816C probably benign Het
Aifm3 A G 16: 17,319,994 (GRCm39) K283E probably benign Het
Akap6 T C 12: 52,984,016 (GRCm39) probably null Het
Ank1 T C 8: 23,589,678 (GRCm39) L593P probably damaging Het
Apol11b T A 15: 77,519,697 (GRCm39) T128S probably benign Het
C1qtnf7 C A 5: 43,773,427 (GRCm39) T235K probably damaging Het
Camk2a A T 18: 61,111,029 (GRCm39) I73F probably damaging Het
Ccdc121rt3 C T 5: 112,502,874 (GRCm39) V277M possibly damaging Het
Cd109 G T 9: 78,612,344 (GRCm39) V1244F possibly damaging Het
Cep164 A G 9: 45,680,761 (GRCm39) L1240S possibly damaging Het
Cnga1 T A 5: 72,761,918 (GRCm39) D532V probably damaging Het
Cyp4a14 A T 4: 115,353,297 (GRCm39) L5* probably null Het
Cyp4a30b A T 4: 115,316,588 (GRCm39) K405* probably null Het
Dchs1 T C 7: 105,403,302 (GRCm39) D3080G probably benign Het
Ddx1 T C 12: 13,287,800 (GRCm39) D168G probably damaging Het
Dhx57 T G 17: 80,553,235 (GRCm39) K1231Q probably damaging Het
Dnah14 A G 1: 181,597,670 (GRCm39) N3640D probably benign Het
Dock4 T A 12: 40,805,833 (GRCm39) L935Q probably damaging Het
Dus2 A T 8: 106,772,698 (GRCm39) R269S probably benign Het
E230025N22Rik G A 18: 36,822,161 (GRCm39) R201C possibly damaging Het
Erbb3 G A 10: 128,419,054 (GRCm39) T269M probably damaging Het
Fbxo43 T C 15: 36,162,239 (GRCm39) R323G probably damaging Het
Fktn A G 4: 53,735,061 (GRCm39) H233R probably benign Het
Ftsj3 A T 11: 106,143,077 (GRCm39) D412E probably damaging Het
Fzd7 A T 1: 59,523,703 (GRCm39) M529L probably benign Het
Fzr1 T A 10: 81,206,660 (GRCm39) probably null Het
Ganc T G 2: 120,261,086 (GRCm39) V257G possibly damaging Het
Garin1a T A 6: 29,290,423 (GRCm39) L267* probably null Het
Gm4131 T C 14: 62,702,207 (GRCm39) K254E probably damaging Het
Gm7347 G T 5: 26,262,247 (GRCm39) Y91* probably null Het
Gm9857 G A 3: 108,847,481 (GRCm39) probably benign Het
Grpel1 T C 5: 36,622,592 (GRCm39) S19P probably benign Het
Gtf3c4 T C 2: 28,723,723 (GRCm39) K670E possibly damaging Het
H2bc7 G A 13: 23,758,277 (GRCm39) probably benign Het
Hmcn1 G T 1: 150,579,924 (GRCm39) Q1938K possibly damaging Het
Hnrnpk T C 13: 58,546,971 (GRCm39) D71G probably damaging Het
Hspa4l G A 3: 40,722,411 (GRCm39) R311H probably damaging Het
Igkv3-5 T A 6: 70,640,688 (GRCm39) F56L probably benign Het
Igkv6-20 T A 6: 70,312,898 (GRCm39) T92S possibly damaging Het
Krt8 C T 15: 101,909,029 (GRCm39) V200I possibly damaging Het
Lamb2 A T 9: 108,357,587 (GRCm39) T66S possibly damaging Het
Lamp3 A G 16: 19,519,778 (GRCm39) L135S probably benign Het
Lrguk A G 6: 34,106,078 (GRCm39) Y701C probably damaging Het
Mcidas T A 13: 113,135,120 (GRCm39) L234Q probably damaging Het
Mtmr14 T A 6: 113,257,575 (GRCm39) L208Q probably damaging Het
Myof A G 19: 37,893,747 (GRCm39) F1139L possibly damaging Het
Nlrp14 C A 7: 106,781,703 (GRCm39) T300K probably benign Het
Or2d36 A T 7: 106,746,535 (GRCm39) E4V possibly damaging Het
Or2m13 T A 16: 19,226,694 (GRCm39) H24L probably benign Het
Or5b118 A G 19: 13,448,870 (GRCm39) I179V probably benign Het
Or8b41 A T 9: 38,055,097 (GRCm39) Y217F probably damaging Het
Orc2 A G 1: 58,511,547 (GRCm39) I354T probably damaging Het
Pard3b G T 1: 62,115,568 (GRCm39) S140I probably damaging Het
Pcgf5 A G 19: 36,412,003 (GRCm39) D49G probably benign Het
Pcsk6 T C 7: 65,609,041 (GRCm39) F388S probably damaging Het
Prokr2 A C 2: 132,223,362 (GRCm39) I60S probably damaging Het
Rab33b A G 3: 51,391,900 (GRCm39) T50A possibly damaging Het
Rbms3 T C 9: 116,548,457 (GRCm39) D61G probably damaging Het
Rhcg T A 7: 79,250,262 (GRCm39) K274* probably null Het
Rnf112 C T 11: 61,341,848 (GRCm39) V319M possibly damaging Het
Rnf44 A T 13: 54,830,613 (GRCm39) S265T possibly damaging Het
Sf3a3 A G 4: 124,615,851 (GRCm39) D168G probably damaging Het
Sik2 A G 9: 50,806,642 (GRCm39) probably null Het
Slco1a5 T A 6: 142,198,839 (GRCm39) L275F probably benign Het
Smtnl1 T C 2: 84,645,722 (GRCm39) H383R probably damaging Het
Spns3 T G 11: 72,429,904 (GRCm39) T175P probably damaging Het
Togaram1 A G 12: 65,042,312 (GRCm39) T1174A probably benign Het
Tradd C T 8: 105,987,277 (GRCm39) E10K possibly damaging Het
Ttc7b A T 12: 100,339,819 (GRCm39) Y579N probably damaging Het
Uncx G A 5: 139,533,344 (GRCm39) G470R probably damaging Het
Vav3 T A 3: 109,408,777 (GRCm39) M177K probably damaging Het
Wfs1 A T 5: 37,125,094 (GRCm39) I599N probably damaging Het
Zfp454 G A 11: 50,764,449 (GRCm39) H217Y probably damaging 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
R0564:Mcc UTSW 18 44,601,574 (GRCm39) missense probably damaging 1.00
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
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 PCR Primer
(F):5'- AGAGGCCATTGTCCAGAAC -3'
(R):5'- ACAGAGTCTAGTGGTGATAACTTGG -3'

Sequencing Primer
(F):5'- TGCTGTCATGCTCACAGAG -3'
(R):5'- ACTTGGAAACATGGAGTCTCTC -3'
Posted On 2017-06-26