Incidental Mutation 'R4508:Cnnm2'
| ID |
331099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cnnm2
|
| Ensembl Gene |
ENSMUSG00000064105 |
| Gene Name |
cyclin M2 |
| Synonyms |
Acdp2 |
| MMRRC Submission |
041757-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4508 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
46750035-46868631 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46865709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 766
(D766N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077666]
[ENSMUST00000099373]
|
| AlphaFold |
Q3TWN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077666
AA Change: D744N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000076850
Gene: ENSMUSG00000064105
AA Change: D744N
| Domain | Start | End | E-Value | Type |
|---|
|
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: D766N
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000096972
Gene: ENSMUSG00000064105
AA Change: D766N
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Meta Mutation Damage Score |
0.1150 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
100% (50/50) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
G |
2: 150,746,275 (GRCm39) |
|
probably benign |
Het |
| Amer3 |
A |
G |
1: 34,627,380 (GRCm39) |
R540G |
probably benign |
Het |
| Ank |
C |
T |
15: 27,565,063 (GRCm39) |
R255W |
probably damaging |
Het |
| Ank3 |
A |
C |
10: 69,728,200 (GRCm39) |
I629L |
probably damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,672,387 (GRCm39) |
N194Y |
probably damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,095 (GRCm39) |
T253A |
possibly damaging |
Het |
| Ccdc40 |
C |
A |
11: 119,133,335 (GRCm39) |
D534E |
probably damaging |
Het |
| Chrna2 |
C |
A |
14: 66,383,902 (GRCm39) |
N106K |
probably damaging |
Het |
| Clec2f |
C |
A |
6: 128,997,474 (GRCm39) |
|
noncoding transcript |
Het |
| Ctc1 |
A |
G |
11: 68,906,943 (GRCm39) |
|
probably null |
Het |
| Ddc |
C |
T |
11: 11,769,393 (GRCm39) |
|
probably null |
Het |
| Doc2g |
G |
A |
19: 4,054,036 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,481 (GRCm39) |
T1334A |
unknown |
Het |
| Epdr1 |
T |
C |
13: 19,778,659 (GRCm39) |
I44V |
probably benign |
Het |
| Fbp2 |
A |
T |
13: 62,989,679 (GRCm39) |
I209N |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,323,764 (GRCm39) |
V163A |
probably benign |
Het |
| Get1 |
T |
A |
16: 95,946,899 (GRCm39) |
|
probably benign |
Het |
| Gldc |
G |
T |
19: 30,120,807 (GRCm39) |
Q375K |
probably damaging |
Het |
| Hc |
A |
C |
2: 34,903,077 (GRCm39) |
V1058G |
possibly damaging |
Het |
| Hydin |
T |
A |
8: 111,245,886 (GRCm39) |
S2200T |
possibly damaging |
Het |
| Kcnc1 |
C |
T |
7: 46,077,712 (GRCm39) |
P505S |
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,834,048 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
A |
G |
11: 100,333,002 (GRCm39) |
E49G |
possibly damaging |
Het |
| Lhx5 |
T |
C |
5: 120,573,499 (GRCm39) |
S161P |
probably damaging |
Het |
| Lilra6 |
G |
T |
7: 3,915,028 (GRCm39) |
Y455* |
probably null |
Het |
| Lzts1 |
C |
T |
8: 69,588,270 (GRCm39) |
R562H |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,226,356 (GRCm39) |
|
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,251,317 (GRCm39) |
Q74* |
probably null |
Het |
| Or4f56 |
A |
C |
2: 111,703,947 (GRCm39) |
D84E |
probably damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,138 (GRCm39) |
V30E |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,633,385 (GRCm39) |
|
probably null |
Het |
| Ptpre |
T |
C |
7: 135,270,832 (GRCm39) |
L329P |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,744,456 (GRCm39) |
Q73R |
possibly damaging |
Het |
| Scly |
G |
A |
1: 91,236,047 (GRCm39) |
V100I |
possibly damaging |
Het |
| Sos2 |
A |
T |
12: 69,682,435 (GRCm39) |
L261* |
probably null |
Het |
| Sp1 |
A |
C |
15: 102,317,747 (GRCm39) |
Q422P |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,800,741 (GRCm39) |
F468Y |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,172 (GRCm39) |
Y2662C |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tmprss2 |
C |
A |
16: 97,371,627 (GRCm39) |
G281C |
probably damaging |
Het |
| Tmprss6 |
A |
T |
15: 78,343,978 (GRCm39) |
Y183N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,580,684 (GRCm39) |
L23403Q |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r90 |
T |
C |
7: 14,296,084 (GRCm39) |
N5D |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,709,819 (GRCm39) |
D1922G |
possibly damaging |
Het |
|
| Other mutations in Cnnm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00493:Cnnm2
|
APN |
19 |
46,751,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01971:Cnnm2
|
APN |
19 |
46,860,115 (GRCm39) |
missense |
probably benign |
0.19 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTACTGAGCTTTGGCCTTTATAC -3'
(R):5'- TCAGAAGTGGCTGTACCTGC -3'
Sequencing Primer
(F):5'- TCTTGTCGCAGCTGAGC -3'
(R):5'- GCTGTACCTGCCAGATCTAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation