Incidental Mutation 'IGL03005:C2cd2'
| ID |
407526 |
| 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 # |
IGL03005
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
97656409-97727248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97660632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 672
(L672P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127368
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170757]
|
| AlphaFold |
E9Q3C1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170757
AA Change: L672P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127368
Gene: ENSMUSG00000045975
AA Change: L672P
| 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: ENSMUST00000232063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232343
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232542
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
A |
T |
1: 176,894,793 (GRCm39) |
V268E |
probably damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,953,480 (GRCm39) |
Y468* |
probably null |
Het |
| Apob |
A |
G |
12: 8,043,059 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
T |
C |
19: 41,772,856 (GRCm39) |
|
probably benign |
Het |
| Cars1 |
A |
G |
7: 143,112,906 (GRCm39) |
F774L |
probably damaging |
Het |
| Cd200r3 |
T |
A |
16: 44,773,973 (GRCm39) |
S128R |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,738,075 (GRCm39) |
N1569S |
probably damaging |
Het |
| Chmp7 |
G |
A |
14: 69,957,277 (GRCm39) |
R294C |
probably damaging |
Het |
| Col10a1 |
A |
T |
10: 34,271,734 (GRCm39) |
I569F |
probably damaging |
Het |
| Cspg4 |
T |
A |
9: 56,795,772 (GRCm39) |
V1169D |
probably damaging |
Het |
| Emg1 |
G |
A |
6: 124,681,557 (GRCm39) |
T229I |
probably damaging |
Het |
| Fmo9 |
C |
T |
1: 166,502,088 (GRCm39) |
S179N |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,912,371 (GRCm39) |
Y667C |
probably damaging |
Het |
| Gpsm2 |
A |
G |
3: 108,594,322 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
A |
T |
11: 98,567,085 (GRCm39) |
E395V |
probably damaging |
Het |
| Gsdmd |
C |
T |
15: 75,739,015 (GRCm39) |
T464M |
possibly damaging |
Het |
| Iqschfp |
C |
A |
3: 68,526,010 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Lipo3 |
T |
C |
19: 33,763,136 (GRCm39) |
I36V |
possibly damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,139 (GRCm39) |
S199G |
probably damaging |
Het |
| Lypla1 |
C |
T |
1: 4,902,613 (GRCm39) |
|
probably benign |
Het |
| Mst1r |
C |
T |
9: 107,791,748 (GRCm39) |
Q809* |
probably null |
Het |
| Mtr |
T |
A |
13: 12,250,335 (GRCm39) |
|
probably benign |
Het |
| Or4a39 |
G |
A |
2: 89,237,315 (GRCm39) |
T36I |
possibly damaging |
Het |
| Pax7 |
T |
A |
4: 139,556,007 (GRCm39) |
I156F |
probably damaging |
Het |
| Pcdhb8 |
T |
A |
18: 37,490,587 (GRCm39) |
L755Q |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,385,351 (GRCm39) |
P1140S |
probably damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,668,272 (GRCm39) |
L808P |
probably damaging |
Het |
| Pex1 |
G |
T |
5: 3,680,292 (GRCm39) |
Q971H |
probably null |
Het |
| Pgap6 |
C |
T |
17: 26,337,911 (GRCm39) |
L432F |
probably benign |
Het |
| Pld1 |
T |
A |
3: 28,141,402 (GRCm39) |
V655E |
possibly damaging |
Het |
| Pnpla3 |
C |
T |
15: 84,058,469 (GRCm39) |
R163W |
probably damaging |
Het |
| Rabgef1 |
T |
C |
5: 130,237,638 (GRCm39) |
L237P |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,902,340 (GRCm39) |
N442K |
possibly damaging |
Het |
| Sorl1 |
T |
G |
9: 41,968,621 (GRCm39) |
D544A |
probably damaging |
Het |
| Spire2 |
C |
A |
8: 124,090,107 (GRCm39) |
P490T |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,767,150 (GRCm39) |
S554T |
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 |
|
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 |
2016-08-02 |
Incidental Mutation