Incidental Mutation 'IGL03493:C2cd2'
| ID |
490715 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
C2cd2
|
| Ensembl Gene |
ENSMUSG00000045975 |
| Gene Name |
C2 calcium-dependent domain containing 2 |
| Synonyms |
5830404H04Rik, ORF25 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
97656409-97727248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97682861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 125
(D125G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156005
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170757]
[ENSMUST00000232165]
|
| AlphaFold |
E9Q3C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170757
AA Change: D289G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127368
Gene: ENSMUSG00000045975
AA Change: D289G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
122 |
N/A |
INTRINSIC |
|
Pfam:C2
|
232 |
359 |
1.9e-6 |
PFAM |
|
low complexity region
|
410 |
421 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
616 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200252
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231332
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231903
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232165
AA Change: D125G
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232572
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart1 |
G |
A |
4: 72,769,884 (GRCm39) |
T253I |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,982,674 (GRCm39) |
E694G |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,046,407 (GRCm39) |
E306* |
probably null |
Het |
| Atp13a5 |
G |
T |
16: 29,116,342 (GRCm39) |
D546E |
probably benign |
Het |
| Col23a1 |
T |
C |
11: 51,455,632 (GRCm39) |
|
probably null |
Het |
| Col9a1 |
T |
A |
1: 24,260,651 (GRCm39) |
|
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,427,952 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
A |
12: 117,976,533 (GRCm39) |
R2708C |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,059 (GRCm39) |
I537V |
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,094,617 (GRCm39) |
T392A |
probably benign |
Het |
| Hsd17b14 |
A |
T |
7: 45,205,515 (GRCm39) |
D42V |
probably damaging |
Het |
| Hsf2 |
A |
T |
10: 57,381,462 (GRCm39) |
I294F |
probably damaging |
Het |
| Ibtk |
G |
T |
9: 85,600,972 (GRCm39) |
S797R |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,936,950 (GRCm39) |
C183* |
probably null |
Het |
| Lnpep |
G |
T |
17: 17,799,433 (GRCm39) |
A74E |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,683,576 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,677,309 (GRCm39) |
R173G |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,733,278 (GRCm39) |
I585T |
probably damaging |
Het |
| Or13a27 |
A |
T |
7: 139,925,066 (GRCm39) |
Y279N |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,151 (GRCm39) |
T249A |
probably damaging |
Het |
| Or5d39 |
G |
A |
2: 87,980,280 (GRCm39) |
P28S |
probably benign |
Het |
| Phactr2 |
A |
G |
10: 13,133,413 (GRCm39) |
V190A |
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Rad51c |
A |
T |
11: 87,288,579 (GRCm39) |
H201Q |
probably benign |
Het |
| Sec63 |
C |
A |
10: 42,704,937 (GRCm39) |
D730E |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,297,226 (GRCm39) |
I39M |
probably damaging |
Het |
| Trav2 |
A |
G |
14: 52,804,745 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,361,569 (GRCm39) |
Y115C |
probably damaging |
Het |
| Zfp955b |
T |
G |
17: 33,521,519 (GRCm39) |
H329Q |
probably benign |
Het |
|
| Other mutations in C2cd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:C2cd2
|
APN |
16 |
97,671,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01633:C2cd2
|
APN |
16 |
97,676,323 (GRCm39) |
splice site |
probably benign |
|
|
IGL01731:C2cd2
|
APN |
16 |
97,671,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02071:C2cd2
|
APN |
16 |
97,671,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02086:C2cd2
|
APN |
16 |
97,691,208 (GRCm39) |
splice site |
probably benign |
|
|
IGL02502:C2cd2
|
APN |
16 |
97,677,590 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02933:C2cd2
|
APN |
16 |
97,693,401 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03005:C2cd2
|
APN |
16 |
97,660,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
H8562:C2cd2
|
UTSW |
16 |
97,680,840 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
H8786:C2cd2
|
UTSW |
16 |
97,680,840 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0480:C2cd2
|
UTSW |
16 |
97,678,348 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0483:C2cd2
|
UTSW |
16 |
97,660,788 (GRCm39) |
splice site |
probably benign |
|
|
R0541:C2cd2
|
UTSW |
16 |
97,723,496 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1294:C2cd2
|
UTSW |
16 |
97,723,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1986:C2cd2
|
UTSW |
16 |
97,671,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2518:C2cd2
|
UTSW |
16 |
97,723,286 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5468:C2cd2
|
UTSW |
16 |
97,669,791 (GRCm39) |
splice site |
probably null |
|
|
R5507:C2cd2
|
UTSW |
16 |
97,682,820 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5979:C2cd2
|
UTSW |
16 |
97,676,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6466:C2cd2
|
UTSW |
16 |
97,680,822 (GRCm39) |
missense |
probably benign |
|
|
R7264:C2cd2
|
UTSW |
16 |
97,677,419 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7372:C2cd2
|
UTSW |
16 |
97,676,580 (GRCm39) |
missense |
|
|
|
R8003:C2cd2
|
UTSW |
16 |
97,687,286 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8181:C2cd2
|
UTSW |
16 |
97,693,502 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8340:C2cd2
|
UTSW |
16 |
97,670,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8506:C2cd2
|
UTSW |
16 |
97,676,621 (GRCm39) |
missense |
|
|
|
R9072:C2cd2
|
UTSW |
16 |
97,676,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9145:C2cd2
|
UTSW |
16 |
97,677,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9175:C2cd2
|
UTSW |
16 |
97,678,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9369:C2cd2
|
UTSW |
16 |
97,723,333 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9659:C2cd2
|
UTSW |
16 |
97,723,473 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9668:C2cd2
|
UTSW |
16 |
97,671,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9788:C2cd2
|
UTSW |
16 |
97,723,473 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2017-10-20 |
Incidental Mutation