Incidental Mutation 'IGL01595:C2cd5'
| ID |
93389 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
C2cd5
|
| Ensembl Gene |
ENSMUSG00000030279 |
| Gene Name |
C2 calcium-dependent domain containing 5 |
| Synonyms |
5730419I09Rik, CDP138, C030008B15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.398)
|
| Stock # |
IGL01595
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
142956646-143045867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 142963748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 879
(R879H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087485]
[ENSMUST00000111758]
[ENSMUST00000171349]
[ENSMUST00000203187]
[ENSMUST00000203673]
[ENSMUST00000204655]
[ENSMUST00000205119]
|
| AlphaFold |
Q7TPS5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087485
AA Change: R853H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279
AA Change: R853H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
4 |
105 |
1.07e-15 |
SMART |
|
Blast:C2
|
127 |
177 |
1e-24 |
BLAST |
|
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
359 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
381 |
453 |
3.98e-5 |
PROSPERO |
|
low complexity region
|
637 |
653 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
909 |
984 |
3.98e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111758
AA Change: R853H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279
AA Change: R853H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
4 |
105 |
1.07e-15 |
SMART |
|
Blast:C2
|
127 |
177 |
1e-24 |
BLAST |
|
low complexity region
|
290 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
368 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
390 |
462 |
1.3e-5 |
PROSPERO |
|
low complexity region
|
646 |
662 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
935 |
1010 |
1.3e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171349
AA Change: R862H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279
AA Change: R862H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
4 |
105 |
1.07e-15 |
SMART |
|
Blast:C2
|
127 |
177 |
1e-24 |
BLAST |
|
low complexity region
|
290 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
368 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
390 |
462 |
1.16e-5 |
PROSPERO |
|
low complexity region
|
646 |
662 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
918 |
993 |
1.16e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203187
AA Change: R879H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279
AA Change: R879H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
4 |
105 |
1.07e-15 |
SMART |
|
Blast:C2
|
127 |
177 |
1e-24 |
BLAST |
|
low complexity region
|
290 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
368 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
390 |
462 |
1.3e-5 |
PROSPERO |
|
low complexity region
|
646 |
662 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
935 |
1010 |
1.3e-5 |
PROSPERO |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203673
AA Change: R915H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279
AA Change: R915H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
4 |
105 |
7.3e-18 |
SMART |
|
Blast:C2
|
127 |
177 |
1e-24 |
BLAST |
|
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
370 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
392 |
464 |
4.65e-5 |
PROSPERO |
|
low complexity region
|
648 |
664 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
971 |
1046 |
4.65e-5 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204635
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204655
AA Change: R862H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279
AA Change: R862H
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
4 |
105 |
1.07e-15 |
SMART |
|
Blast:C2
|
127 |
177 |
1e-24 |
BLAST |
|
low complexity region
|
290 |
317 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
329 |
N/A |
INTRINSIC |
|
low complexity region
|
359 |
368 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
390 |
462 |
1.16e-5 |
PROSPERO |
|
low complexity region
|
646 |
662 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
918 |
993 |
1.16e-5 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205117
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205119
|
| SMART Domains |
Protein: ENSMUSP00000145397
Gene: ENSMUSG00000030279
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:C2
|
3 |
70 |
5.4e-14 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27)
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
A |
G |
2: 22,968,181 (GRCm39) |
M111V |
probably damaging |
Het |
| Adamts14 |
A |
T |
10: 61,041,252 (GRCm39) |
H819Q |
probably damaging |
Het |
| Adamts7 |
T |
A |
9: 90,075,359 (GRCm39) |
N1072K |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,980,865 (GRCm39) |
Y716* |
probably null |
Het |
| Arfgef3 |
T |
C |
10: 18,470,660 (GRCm39) |
K1702E |
possibly damaging |
Het |
| BB014433 |
C |
A |
8: 15,092,499 (GRCm39) |
|
probably null |
Het |
| Bdnf |
A |
T |
2: 109,554,273 (GRCm39) |
K176* |
probably null |
Het |
| Capn11 |
T |
A |
17: 45,950,360 (GRCm39) |
H327L |
probably benign |
Het |
| Ccdc68 |
A |
G |
18: 70,089,117 (GRCm39) |
N220S |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,198,238 (GRCm39) |
|
probably benign |
Het |
| Clca3a2 |
G |
A |
3: 144,793,768 (GRCm39) |
L296F |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,330,027 (GRCm39) |
L2618Q |
probably benign |
Het |
| Gfi1b |
A |
G |
2: 28,501,429 (GRCm39) |
|
probably null |
Het |
| Gpr37 |
G |
T |
6: 25,669,572 (GRCm39) |
T424N |
probably damaging |
Het |
| Kank3 |
G |
A |
17: 34,038,154 (GRCm39) |
|
probably null |
Het |
| Kcnh5 |
T |
C |
12: 74,945,101 (GRCm39) |
Q716R |
probably benign |
Het |
| Kntc1 |
G |
A |
5: 123,941,758 (GRCm39) |
M1817I |
probably benign |
Het |
| Krt79 |
T |
G |
15: 101,840,206 (GRCm39) |
E330A |
probably damaging |
Het |
| Mapk15 |
C |
A |
15: 75,867,129 (GRCm39) |
P82Q |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,993,312 (GRCm39) |
D1649V |
probably damaging |
Het |
| Myo1d |
T |
C |
11: 80,566,936 (GRCm39) |
I326V |
probably benign |
Het |
| Nek9 |
A |
T |
12: 85,361,194 (GRCm39) |
W504R |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,069,111 (GRCm39) |
C337* |
probably null |
Het |
| Nup160 |
A |
G |
2: 90,560,081 (GRCm39) |
N1269D |
probably damaging |
Het |
| Or52e3 |
A |
G |
7: 102,869,558 (GRCm39) |
D211G |
probably damaging |
Het |
| Or56b2 |
T |
C |
7: 104,337,285 (GRCm39) |
M21T |
possibly damaging |
Het |
| Or8c10 |
T |
C |
9: 38,279,346 (GRCm39) |
V168A |
probably benign |
Het |
| Pde6a |
A |
G |
18: 61,414,599 (GRCm39) |
M36V |
probably damaging |
Het |
| Perp |
A |
G |
10: 18,731,407 (GRCm39) |
Q122R |
probably damaging |
Het |
| S100a7a |
T |
C |
3: 90,565,107 (GRCm39) |
Y101H |
probably benign |
Het |
| Sbk2 |
C |
A |
7: 4,960,712 (GRCm39) |
V153L |
possibly damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,356,052 (GRCm39) |
N25I |
probably damaging |
Het |
| Tbx5 |
A |
T |
5: 119,978,903 (GRCm39) |
D105V |
probably damaging |
Het |
| Trip6 |
T |
A |
5: 137,311,675 (GRCm39) |
T101S |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,386,921 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in C2cd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:C2cd5
|
APN |
6 |
142,963,671 (GRCm39) |
missense |
probably null |
0.99 |
|
IGL01065:C2cd5
|
APN |
6 |
143,024,005 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01654:C2cd5
|
APN |
6 |
143,027,133 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01917:C2cd5
|
APN |
6 |
143,018,322 (GRCm39) |
missense |
probably benign |
|
|
IGL01966:C2cd5
|
APN |
6 |
142,957,767 (GRCm39) |
nonsense |
probably null |
|
|
IGL02417:C2cd5
|
APN |
6 |
142,987,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02616:C2cd5
|
APN |
6 |
142,980,837 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02745:C2cd5
|
APN |
6 |
142,987,256 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02819:C2cd5
|
APN |
6 |
143,028,946 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02926:C2cd5
|
APN |
6 |
142,976,963 (GRCm39) |
splice site |
probably benign |
|
|
IGL02969:C2cd5
|
APN |
6 |
143,025,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03072:C2cd5
|
APN |
6 |
143,025,609 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03226:C2cd5
|
APN |
6 |
143,018,292 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
D605:C2cd5
|
UTSW |
6 |
142,975,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0385:C2cd5
|
UTSW |
6 |
142,987,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:C2cd5
|
UTSW |
6 |
142,957,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0644:C2cd5
|
UTSW |
6 |
142,958,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0723:C2cd5
|
UTSW |
6 |
142,987,281 (GRCm39) |
splice site |
probably benign |
|
|
R0740:C2cd5
|
UTSW |
6 |
142,981,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:C2cd5
|
UTSW |
6 |
143,007,464 (GRCm39) |
splice site |
probably benign |
|
|
R1475:C2cd5
|
UTSW |
6 |
143,018,298 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1494:C2cd5
|
UTSW |
6 |
142,987,072 (GRCm39) |
splice site |
probably benign |
|
|
R1645:C2cd5
|
UTSW |
6 |
142,995,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:C2cd5
|
UTSW |
6 |
142,958,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2253:C2cd5
|
UTSW |
6 |
142,982,042 (GRCm39) |
nonsense |
probably null |
|
|
R3934:C2cd5
|
UTSW |
6 |
142,987,106 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4065:C2cd5
|
UTSW |
6 |
143,019,397 (GRCm39) |
missense |
probably benign |
|
|
R4654:C2cd5
|
UTSW |
6 |
142,975,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4691:C2cd5
|
UTSW |
6 |
142,975,874 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4972:C2cd5
|
UTSW |
6 |
142,958,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5302:C2cd5
|
UTSW |
6 |
143,019,482 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5362:C2cd5
|
UTSW |
6 |
143,028,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5604:C2cd5
|
UTSW |
6 |
142,957,747 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6139:C2cd5
|
UTSW |
6 |
142,980,784 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6165:C2cd5
|
UTSW |
6 |
142,995,954 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6567:C2cd5
|
UTSW |
6 |
142,976,974 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6600:C2cd5
|
UTSW |
6 |
143,025,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6821:C2cd5
|
UTSW |
6 |
142,963,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:C2cd5
|
UTSW |
6 |
142,975,364 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7153:C2cd5
|
UTSW |
6 |
142,965,135 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7689:C2cd5
|
UTSW |
6 |
142,995,951 (GRCm39) |
nonsense |
probably null |
|
|
R8027:C2cd5
|
UTSW |
6 |
143,024,046 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8461:C2cd5
|
UTSW |
6 |
142,980,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8852:C2cd5
|
UTSW |
6 |
143,028,946 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8860:C2cd5
|
UTSW |
6 |
143,028,946 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8863:C2cd5
|
UTSW |
6 |
142,987,088 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9238:C2cd5
|
UTSW |
6 |
143,027,127 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9320:C2cd5
|
UTSW |
6 |
142,977,019 (GRCm39) |
nonsense |
probably null |
|
|
R9758:C2cd5
|
UTSW |
6 |
142,984,613 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0013:C2cd5
|
UTSW |
6 |
143,012,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:C2cd5
|
UTSW |
6 |
142,974,932 (GRCm39) |
missense |
probably null |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation