Incidental Mutation 'R5199:Mcmdc2'
ID 470581
Institutional Source Beutler Lab
Gene Symbol Mcmdc2
Ensembl Gene ENSMUSG00000046101
Gene Name minichromosome maintenance domain containing 2
Synonyms 6030422M02Rik
MMRRC Submission 042775-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5199 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 9978863-10011179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9990660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 279 (V279A)
Ref Sequence ENSEMBL: ENSMUSP00000120858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052843] [ENSMUST00000118098] [ENSMUST00000125294] [ENSMUST00000140948] [ENSMUST00000171802]
AlphaFold E9Q956
Predicted Effect probably benign
Transcript: ENSMUST00000052843
AA Change: V265A

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000054715
Gene: ENSMUSG00000046101
AA Change: V265A

DomainStartEndE-ValueType
Blast:MCM 101 345 1e-140 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000118098
AA Change: V279A

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112851
Gene: ENSMUSG00000046101
AA Change: V279A

DomainStartEndE-ValueType
Blast:MCM 115 358 1e-139 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000125294
AA Change: V279A

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120858
Gene: ENSMUSG00000046101
AA Change: V279A

DomainStartEndE-ValueType
Blast:MCM 115 236 3e-73 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000140948
AA Change: V279A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120577
Gene: ENSMUSG00000046101
AA Change: V279A

DomainStartEndE-ValueType
Blast:MCM 115 358 1e-139 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000171802
AA Change: V279A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000128620
Gene: ENSMUSG00000046101
AA Change: V279A

DomainStartEndE-ValueType
Pfam:MCM 503 623 1.4e-9 PFAM
low complexity region 658 665 N/A INTRINSIC
Meta Mutation Damage Score 0.0653 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (57/57)
MGI Phenotype PHENOTYPE: Homozygous knockout mice of both sexes are sterile as a result of abnormal meiosis. This in turn is caused by defective double-strand break DNA repair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 T C 3: 59,843,906 (GRCm39) L200P probably damaging Het
Adam1a T C 5: 121,659,215 (GRCm39) E26G probably benign Het
Adar T A 3: 89,653,251 (GRCm39) M797K probably damaging Het
Amdhd1 A T 10: 93,361,847 (GRCm39) C352S probably damaging Het
AW554918 C A 18: 25,473,356 (GRCm39) R387S probably damaging Het
Cabp1 A G 5: 115,324,102 (GRCm39) V5A possibly damaging Het
Carmil1 A G 13: 24,295,853 (GRCm39) L387P probably damaging Het
Cds2 T A 2: 132,140,403 (GRCm39) H200Q probably damaging Het
Cep170b T A 12: 112,710,581 (GRCm39) L1470Q probably damaging Het
Cnnm1 A G 19: 43,483,425 (GRCm39) D956G possibly damaging Het
Cnot8 C T 11: 58,006,100 (GRCm39) Q210* probably null Het
Cpne8 G A 15: 90,532,812 (GRCm39) T65I probably benign Het
Crygn A G 5: 24,961,156 (GRCm39) V50A probably damaging Het
Cxcr4 A G 1: 128,517,283 (GRCm39) V126A probably damaging Het
Cyp4f15 A G 17: 32,921,346 (GRCm39) D464G probably benign Het
Dapp1 C T 3: 137,687,146 (GRCm39) S12N probably benign Het
Dhps G A 8: 85,800,035 (GRCm39) G162R probably damaging Het
Dsp T G 13: 38,376,878 (GRCm39) Y1554* probably null Het
Etl4 G T 2: 20,748,853 (GRCm39) R397L probably damaging Het
Ezh2 C T 6: 47,528,659 (GRCm39) C291Y probably benign Het
Gbp9 T C 5: 105,231,678 (GRCm39) S303G probably benign Het
Gm11444 A C 11: 85,738,845 (GRCm39) S83A unknown Het
Gpat4 A G 8: 23,672,712 (GRCm39) V46A possibly damaging Het
Haus6 T C 4: 86,501,222 (GRCm39) D883G possibly damaging Het
Hinfp T C 9: 44,207,689 (GRCm39) E439G probably benign Het
Ifna14 T A 4: 88,489,599 (GRCm39) Y146F probably damaging Het
Igkv3-3 A T 6: 70,664,488 (GRCm39) Y110F probably damaging Het
Kansl2-ps A G 7: 72,322,942 (GRCm39) noncoding transcript Het
Klrh1 T A 6: 129,752,781 (GRCm39) Y8F possibly damaging Het
Mug2 T A 6: 122,017,619 (GRCm39) V452D probably benign Het
Ndufb3 C G 1: 58,630,281 (GRCm39) probably benign Het
Oas1d G T 5: 121,057,208 (GRCm39) K271N probably benign Het
Or4c110 T A 2: 88,832,107 (GRCm39) H175L possibly damaging Het
Or5ac21 T A 16: 59,124,103 (GRCm39) F196I probably benign Het
Or9g3 A G 2: 85,590,558 (GRCm39) L54P probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcnt T A 10: 76,254,378 (GRCm39) H817L probably benign Het
Per3 G T 4: 151,097,352 (GRCm39) S724R probably benign Het
Phlpp1 T A 1: 106,101,124 (GRCm39) V464E probably damaging Het
Psme4 A G 11: 30,803,272 (GRCm39) E38G probably benign Het
Qtrt2 T C 16: 43,687,788 (GRCm39) N264S probably benign Het
Ranbp2 G A 10: 58,300,265 (GRCm39) R557H probably benign Het
Rptor T A 11: 119,494,642 (GRCm39) S3T probably benign Het
Saxo1 T A 4: 86,406,019 (GRCm39) Y60F probably damaging Het
St3gal1 A G 15: 66,985,564 (GRCm39) V30A probably benign Het
Tmem245 G A 4: 56,925,149 (GRCm39) S324L probably benign Het
Topbp1 A G 9: 103,223,871 (GRCm39) probably benign Het
Urb1 T C 16: 90,589,636 (GRCm39) T382A possibly damaging Het
Vmn1r178 A T 7: 23,593,814 (GRCm39) L214F probably benign Het
Vmn2r82 G A 10: 79,231,921 (GRCm39) C640Y probably damaging Het
Vsx2 A G 12: 84,639,984 (GRCm39) D281G probably benign Het
Zfp804b A T 5: 6,820,013 (GRCm39) C1017S probably benign Het
Other mutations in Mcmdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02374:Mcmdc2 APN 1 9,982,207 (GRCm39) missense possibly damaging 0.85
IGL03087:Mcmdc2 APN 1 10,001,170 (GRCm39) missense possibly damaging 0.78
IGL03230:Mcmdc2 APN 1 10,002,221 (GRCm39) unclassified probably benign
R0313:Mcmdc2 UTSW 1 10,002,366 (GRCm39) missense probably damaging 1.00
R0448:Mcmdc2 UTSW 1 10,010,767 (GRCm39) makesense probably null
R0685:Mcmdc2 UTSW 1 9,982,039 (GRCm39) critical splice donor site probably null
R0926:Mcmdc2 UTSW 1 9,990,801 (GRCm39) nonsense probably null
R1590:Mcmdc2 UTSW 1 9,986,780 (GRCm39) nonsense probably null
R1867:Mcmdc2 UTSW 1 10,001,030 (GRCm39) missense probably damaging 1.00
R2356:Mcmdc2 UTSW 1 10,001,026 (GRCm39) missense possibly damaging 0.76
R5341:Mcmdc2 UTSW 1 10,011,142 (GRCm39) frame shift probably null
R5459:Mcmdc2 UTSW 1 10,007,309 (GRCm39) missense probably benign 0.06
R5748:Mcmdc2 UTSW 1 9,982,032 (GRCm39) missense probably damaging 1.00
R6808:Mcmdc2 UTSW 1 10,004,242 (GRCm39) missense probably damaging 1.00
R6908:Mcmdc2 UTSW 1 10,001,003 (GRCm39) splice site probably null
R7123:Mcmdc2 UTSW 1 10,010,643 (GRCm39) missense unknown
R7233:Mcmdc2 UTSW 1 10,002,408 (GRCm39) critical splice donor site probably null
R7498:Mcmdc2 UTSW 1 9,989,302 (GRCm39) missense probably benign
R7646:Mcmdc2 UTSW 1 9,982,360 (GRCm39) missense possibly damaging 0.53
R7834:Mcmdc2 UTSW 1 9,982,399 (GRCm39) critical splice donor site probably null
R8118:Mcmdc2 UTSW 1 9,986,599 (GRCm39) missense possibly damaging 0.68
R8194:Mcmdc2 UTSW 1 9,986,867 (GRCm39) missense probably benign
R8283:Mcmdc2 UTSW 1 10,004,263 (GRCm39) missense possibly damaging 0.85
R8434:Mcmdc2 UTSW 1 9,990,806 (GRCm39) missense possibly damaging 0.63
R8523:Mcmdc2 UTSW 1 9,981,946 (GRCm39) start codon destroyed probably null 0.87
R9244:Mcmdc2 UTSW 1 9,985,835 (GRCm39) missense probably damaging 1.00
R9281:Mcmdc2 UTSW 1 9,994,425 (GRCm39) missense probably damaging 1.00
X0025:Mcmdc2 UTSW 1 9,982,191 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TGCTGCCTCACACATAACTG -3'
(R):5'- TACAAGCAGAGTGTCACTGG -3'

Sequencing Primer
(F):5'- TGCCTCACACATAACTGCAGAGG -3'
(R):5'- AGCAGAGTGTCACTGGTTATAAC -3'
Posted On 2017-03-14