Incidental Mutation 'IGL00482:C2cd2'
| ID |
3936 |
| 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 # |
IGL00482
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
97656409-97727248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97671420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 493
(E493G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170757]
|
| AlphaFold |
E9Q3C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170757
AA Change: E493G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127368
Gene: ENSMUSG00000045975
AA Change: E493G
| 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 |
unknown
Transcript: ENSMUST00000231575
AA Change: E20G
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000231903
AA Change: E211G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232572
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,338,350 (GRCm39) |
T722A |
probably damaging |
Het |
| Akr1b10 |
G |
T |
6: 34,365,837 (GRCm39) |
|
probably benign |
Het |
| Amy1 |
G |
T |
3: 113,349,781 (GRCm39) |
T463K |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,365,719 (GRCm39) |
|
probably benign |
Het |
| Arl2 |
A |
G |
19: 6,191,082 (GRCm39) |
L17P |
probably damaging |
Het |
| Cdk19 |
A |
G |
10: 40,345,644 (GRCm39) |
E239G |
possibly damaging |
Het |
| Cit |
A |
G |
5: 116,076,814 (GRCm39) |
D719G |
probably damaging |
Het |
| Commd3 |
T |
C |
2: 18,678,739 (GRCm39) |
V58A |
possibly damaging |
Het |
| Cyp2c29 |
A |
C |
19: 39,313,467 (GRCm39) |
D360A |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,482,477 (GRCm39) |
Y492H |
probably benign |
Het |
| Gk |
A |
G |
X: 84,804,207 (GRCm39) |
L78P |
possibly damaging |
Het |
| Gm5884 |
A |
T |
6: 128,623,166 (GRCm39) |
|
noncoding transcript |
Het |
| Lat2 |
A |
T |
5: 134,635,630 (GRCm39) |
|
probably null |
Het |
| Lrrc4c |
C |
A |
2: 97,460,730 (GRCm39) |
S452* |
probably null |
Het |
| Ntsr2 |
T |
C |
12: 16,709,849 (GRCm39) |
C377R |
probably damaging |
Het |
| Padi3 |
A |
C |
4: 140,530,935 (GRCm39) |
M29R |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 93,564,130 (GRCm39) |
S1067P |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,373,959 (GRCm39) |
D1462G |
probably damaging |
Het |
| Rassf4 |
A |
G |
6: 116,622,089 (GRCm39) |
F168L |
possibly damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,921,245 (GRCm39) |
R642Q |
probably benign |
Het |
| Snrnp200 |
T |
G |
2: 127,072,055 (GRCm39) |
V1214G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,592,303 (GRCm39) |
G323S |
probably benign |
Het |
| Spidr |
A |
G |
16: 15,932,833 (GRCm39) |
V149A |
possibly damaging |
Het |
| Stat4 |
A |
T |
1: 52,113,856 (GRCm39) |
I189F |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,080,641 (GRCm39) |
Y1387C |
probably damaging |
Het |
| Tmprss9 |
G |
A |
10: 80,730,262 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in C2cd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation