Incidental Mutation 'IGL01971:Cnnm2'
ID 182543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnnm2
Ensembl Gene ENSMUSG00000064105
Gene Name cyclin M2
Synonyms Acdp2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01971
Quality Score
Status
Chromosome 19
Chromosomal Location 46750035-46868631 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46860115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 730 (T730A)
Ref Sequence ENSEMBL: ENSMUSP00000096972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077666] [ENSMUST00000099373]
AlphaFold Q3TWN3
Predicted Effect probably benign
Transcript: ENSMUST00000077666
SMART Domains Protein: ENSMUSP00000076850
Gene: ENSMUSG00000064105

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 56 67 N/A INTRINSIC
low complexity region 194 227 N/A INTRINSIC
Pfam:DUF21 257 431 7.8e-39 PFAM
Blast:CBS 455 505 3e-14 BLAST
Pfam:CBS 514 578 7.6e-6 PFAM
Blast:cNMP 649 805 2e-49 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000099373
AA Change: T730A

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000096972
Gene: ENSMUSG00000064105
AA Change: T730A

DomainStartEndE-ValueType
low complexity region 28 39 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 56 67 N/A INTRINSIC
low complexity region 194 227 N/A INTRINSIC
Pfam:DUF21 257 431 2.6e-39 PFAM
Blast:CBS 455 505 3e-14 BLAST
Pfam:CBS 514 578 1.1e-5 PFAM
Blast:cNMP 649 827 1e-46 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Allele List at MGI

All alleles(90) : Gene trapped(90)

Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik C T 7: 29,273,987 (GRCm39) noncoding transcript Het
Ankmy2 A T 12: 36,243,792 (GRCm39) K336* probably null Het
Areg A G 5: 91,288,870 (GRCm39) T59A probably benign Het
Atp8b4 T C 2: 126,304,536 (GRCm39) I66V probably benign Het
Atrnl1 C T 19: 57,741,715 (GRCm39) T1158M probably damaging Het
Ckmt1 T A 2: 121,194,064 (GRCm39) I409N probably benign Het
Fan1 T C 7: 64,003,459 (GRCm39) R788G probably damaging Het
Fbf1 T C 11: 116,034,208 (GRCm39) probably benign Het
Galnt2l G A 8: 125,070,081 (GRCm39) V499M probably benign Het
Heca A G 10: 17,791,162 (GRCm39) F298S probably damaging Het
Klhl6 A T 16: 19,768,276 (GRCm39) V423E probably damaging Het
Notch3 T C 17: 32,343,321 (GRCm39) N1951D probably damaging Het
Osbp T C 19: 11,967,999 (GRCm39) V636A probably benign Het
Szt2 T C 4: 118,244,152 (GRCm39) T1318A probably benign Het
Tnxb G A 17: 34,891,271 (GRCm39) G538D probably damaging Het
Tpbpa A T 13: 61,088,047 (GRCm39) F46L possibly damaging Het
Ttn A G 2: 76,554,123 (GRCm39) V30860A probably damaging Het
Usf3 A G 16: 44,037,809 (GRCm39) probably null Het
Utp23 C A 15: 51,745,671 (GRCm39) A57E probably benign Het
Vmn2r13 T C 5: 109,321,981 (GRCm39) M239V probably benign Het
Other mutations in Cnnm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Cnnm2 APN 19 46,751,659 (GRCm39) missense probably damaging 1.00
IGL02003:Cnnm2 APN 19 46,856,998 (GRCm39) missense probably damaging 1.00
IGL02068:Cnnm2 APN 19 46,865,827 (GRCm39) missense possibly damaging 0.94
IGL02185:Cnnm2 APN 19 46,751,434 (GRCm39) missense probably benign 0.45
IGL02652:Cnnm2 APN 19 46,751,650 (GRCm39) missense probably damaging 1.00
IGL02682:Cnnm2 APN 19 46,750,515 (GRCm39) missense probably benign 0.37
IGL03009:Cnnm2 APN 19 46,865,794 (GRCm39) missense probably damaging 1.00
IGL03378:Cnnm2 APN 19 46,866,473 (GRCm39) missense possibly damaging 0.76
R1581:Cnnm2 UTSW 19 46,751,562 (GRCm39) missense probably damaging 0.99
R3700:Cnnm2 UTSW 19 46,750,990 (GRCm39) missense probably damaging 1.00
R3892:Cnnm2 UTSW 19 46,750,232 (GRCm39) nonsense probably null
R3911:Cnnm2 UTSW 19 46,866,375 (GRCm39) missense probably damaging 0.96
R4508:Cnnm2 UTSW 19 46,865,709 (GRCm39) missense probably benign 0.01
R4678:Cnnm2 UTSW 19 46,751,685 (GRCm39) missense possibly damaging 0.91
R4878:Cnnm2 UTSW 19 46,847,522 (GRCm39) missense probably benign 0.45
R5154:Cnnm2 UTSW 19 46,751,571 (GRCm39) missense probably benign 0.02
R5445:Cnnm2 UTSW 19 46,865,727 (GRCm39) missense possibly damaging 0.66
R5771:Cnnm2 UTSW 19 46,845,434 (GRCm39) splice site probably null
R5914:Cnnm2 UTSW 19 46,751,616 (GRCm39) missense probably benign 0.07
R6263:Cnnm2 UTSW 19 46,845,344 (GRCm39) missense probably benign 0.30
R6715:Cnnm2 UTSW 19 46,842,412 (GRCm39) missense probably damaging 1.00
R6881:Cnnm2 UTSW 19 46,865,658 (GRCm39) missense probably damaging 1.00
R7022:Cnnm2 UTSW 19 46,847,379 (GRCm39) splice site probably null
R7022:Cnnm2 UTSW 19 46,750,989 (GRCm39) missense probably damaging 0.98
R7486:Cnnm2 UTSW 19 46,750,513 (GRCm39) missense possibly damaging 0.94
R7600:Cnnm2 UTSW 19 46,750,506 (GRCm39) missense probably benign 0.02
R7648:Cnnm2 UTSW 19 46,866,339 (GRCm39) missense probably damaging 0.98
R7800:Cnnm2 UTSW 19 46,866,420 (GRCm39) missense probably benign 0.28
R8867:Cnnm2 UTSW 19 46,750,996 (GRCm39) missense probably damaging 0.99
R8971:Cnnm2 UTSW 19 46,845,362 (GRCm39) missense probably benign 0.28
R9433:Cnnm2 UTSW 19 46,750,807 (GRCm39) missense probably benign 0.23
R9463:Cnnm2 UTSW 19 46,750,990 (GRCm39) missense probably damaging 1.00
X0017:Cnnm2 UTSW 19 46,750,902 (GRCm39) missense probably benign 0.05
X0018:Cnnm2 UTSW 19 46,751,212 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07