Incidental Mutation 'IGL02933:C2cd2'
| ID |
364181 |
| 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 # |
IGL02933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
97656409-97727248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97693401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 157
(F157I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170757]
[ENSMUST00000232165]
|
| AlphaFold |
E9Q3C1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170757
AA Change: F157I
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000127368
Gene: ENSMUSG00000045975
AA Change: F157I
| 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: ENSMUST00000231332
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232572
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
G |
T |
7: 44,012,436 (GRCm39) |
S24Y |
possibly damaging |
Het |
| Adam15 |
T |
C |
3: 89,250,790 (GRCm39) |
T609A |
possibly damaging |
Het |
| Ank1 |
C |
T |
8: 23,612,881 (GRCm39) |
T1485I |
possibly damaging |
Het |
| Bbof1 |
A |
G |
12: 84,473,740 (GRCm39) |
N357D |
probably damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,644,697 (GRCm39) |
F267S |
possibly damaging |
Het |
| Cd55 |
T |
C |
1: 130,380,261 (GRCm39) |
E239G |
probably damaging |
Het |
| Cnpy1 |
T |
A |
5: 28,412,119 (GRCm39) |
H138L |
probably benign |
Het |
| Cpne4 |
T |
C |
9: 104,896,966 (GRCm39) |
V373A |
possibly damaging |
Het |
| Dlg5 |
A |
T |
14: 24,208,567 (GRCm39) |
S880T |
probably benign |
Het |
| Etv1 |
C |
T |
12: 38,831,832 (GRCm39) |
T27I |
probably benign |
Het |
| Fam227b |
T |
A |
2: 125,965,908 (GRCm39) |
|
probably null |
Het |
| Flcn |
T |
C |
11: 59,694,583 (GRCm39) |
S130G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,849,902 (GRCm39) |
|
probably benign |
Het |
| Git1 |
C |
A |
11: 77,391,902 (GRCm39) |
H241Q |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,642,256 (GRCm39) |
H642Q |
probably benign |
Het |
| Idh1 |
C |
T |
1: 65,201,072 (GRCm39) |
S293N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,214,402 (GRCm39) |
S1449P |
probably benign |
Het |
| Mmel1 |
T |
A |
4: 154,968,087 (GRCm39) |
L141Q |
probably damaging |
Het |
| Morn4 |
A |
G |
19: 42,064,661 (GRCm39) |
I109T |
probably benign |
Het |
| Mrgprh |
T |
C |
17: 13,096,596 (GRCm39) |
Y279H |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,310 (GRCm39) |
Y60N |
probably damaging |
Het |
| Osbpl8 |
T |
C |
10: 111,117,991 (GRCm39) |
I578T |
probably damaging |
Het |
| Reg2 |
A |
G |
6: 78,384,917 (GRCm39) |
Y153C |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,484 (GRCm39) |
S902G |
probably benign |
Het |
| Sesn3 |
C |
T |
9: 14,232,504 (GRCm39) |
T259M |
probably damaging |
Het |
| Traf1 |
C |
A |
2: 34,839,107 (GRCm39) |
D73Y |
possibly damaging |
Het |
| Trnt1 |
G |
A |
6: 106,750,387 (GRCm39) |
G97D |
probably benign |
Het |
| Ttll11 |
T |
C |
2: 35,869,422 (GRCm39) |
H72R |
probably benign |
Het |
| Txndc12 |
T |
C |
4: 108,715,193 (GRCm39) |
|
probably null |
Het |
| Zan |
C |
A |
5: 137,426,676 (GRCm39) |
S2490I |
unknown |
Het |
| Zfp955a |
T |
C |
17: 33,462,683 (GRCm39) |
|
probably null |
Het |
| Zfyve26 |
A |
C |
12: 79,326,854 (GRCm39) |
S756R |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,670,238 (GRCm39) |
N412S |
possibly damaging |
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 |
|
IGL03005:C2cd2
|
APN |
16 |
97,660,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03493:C2cd2
|
APN |
16 |
97,682,861 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2015-12-18 |
Incidental Mutation