Incidental Mutation 'IGL02745:C2cd5'
| ID |
306128 |
| 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: 0.417)
|
| Stock # |
IGL02745
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
142956646-143045867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142987256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 155
(L155I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087485]
[ENSMUST00000111758]
[ENSMUST00000171349]
[ENSMUST00000203187]
[ENSMUST00000203673]
[ENSMUST00000204043]
[ENSMUST00000204655]
[ENSMUST00000205119]
|
| AlphaFold |
Q7TPS5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087485
AA Change: L449I
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279
AA Change: L449I
| 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 benign
Transcript: ENSMUST00000111758
AA Change: L449I
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279
AA Change: L449I
| 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 benign
Transcript: ENSMUST00000171349
AA Change: L458I
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279
AA Change: L458I
| 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 benign
Transcript: ENSMUST00000203187
AA Change: L458I
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279
AA Change: L458I
| 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 |
noncoding transcript
Transcript: ENSMUST00000203349
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203673
AA Change: L460I
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279
AA Change: L460I
| 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 |
probably benign
Transcript: ENSMUST00000204043
AA Change: L155I
PolyPhen 2
Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000145382
Gene: ENSMUSG00000030279
AA Change: L155I
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204655
AA Change: L458I
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279
AA Change: L458I
| 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 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,112,282 (GRCm39) |
E167G |
probably benign |
Het |
| Aldh1a1 |
A |
G |
19: 20,614,028 (GRCm39) |
|
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,805,950 (GRCm39) |
H152R |
probably damaging |
Het |
| Bpifb4 |
T |
A |
2: 153,789,141 (GRCm39) |
L316Q |
probably damaging |
Het |
| Chrdl2 |
T |
A |
7: 99,670,170 (GRCm39) |
C98S |
probably damaging |
Het |
| Clnk |
A |
G |
5: 38,893,662 (GRCm39) |
S232P |
probably benign |
Het |
| Csf3 |
A |
G |
11: 98,593,303 (GRCm39) |
D140G |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,234,189 (GRCm39) |
|
probably benign |
Het |
| Fetub |
T |
C |
16: 22,756,676 (GRCm39) |
V259A |
probably damaging |
Het |
| Gga2 |
G |
T |
7: 121,607,592 (GRCm39) |
R108S |
probably damaging |
Het |
| Hip1r |
C |
A |
5: 124,129,002 (GRCm39) |
|
probably null |
Het |
| Hsd17b3 |
A |
G |
13: 64,234,990 (GRCm39) |
F62L |
probably benign |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Man1a |
C |
T |
10: 53,853,206 (GRCm39) |
R304Q |
probably damaging |
Het |
| Med17 |
A |
G |
9: 15,176,642 (GRCm39) |
|
probably benign |
Het |
| Mrgprb4 |
T |
C |
7: 47,848,106 (GRCm39) |
Y274C |
probably damaging |
Het |
| Myh8 |
C |
T |
11: 67,188,327 (GRCm39) |
T996I |
possibly damaging |
Het |
| Niban3 |
G |
T |
8: 72,057,682 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
T |
A |
7: 23,020,716 (GRCm39) |
L401Q |
probably damaging |
Het |
| Oas1h |
G |
A |
5: 120,999,542 (GRCm39) |
R9Q |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,232 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or4d10b |
C |
T |
19: 12,036,565 (GRCm39) |
V184I |
probably benign |
Het |
| Or8g51 |
T |
C |
9: 38,609,494 (GRCm39) |
H56R |
probably damaging |
Het |
| Otor |
A |
G |
2: 142,923,076 (GRCm39) |
D122G |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,710,340 (GRCm39) |
Q325L |
probably damaging |
Het |
| Ppfibp1 |
T |
C |
6: 146,923,852 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
A |
T |
4: 143,677,294 (GRCm39) |
L95Q |
probably damaging |
Het |
| Prlr |
T |
A |
15: 10,328,680 (GRCm39) |
I385N |
possibly damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,662,002 (GRCm39) |
V418A |
probably damaging |
Het |
| Rdh1 |
A |
T |
10: 127,601,288 (GRCm39) |
T279S |
probably benign |
Het |
| Slc17a3 |
C |
A |
13: 24,026,469 (GRCm39) |
Q13K |
probably benign |
Het |
| Slc22a20 |
T |
C |
19: 6,022,901 (GRCm39) |
N414S |
probably damaging |
Het |
| Slc4a1 |
C |
A |
11: 102,247,093 (GRCm39) |
C498F |
probably damaging |
Het |
| Sp8 |
G |
A |
12: 118,813,326 (GRCm39) |
G394S |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,346,233 (GRCm39) |
T1406I |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,059,321 (GRCm39) |
D561E |
probably damaging |
Het |
| Stxbp5l |
G |
A |
16: 37,007,016 (GRCm39) |
Q726* |
probably null |
Het |
| Synpo2 |
G |
A |
3: 122,907,261 (GRCm39) |
T685I |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,635,140 (GRCm39) |
S556T |
probably benign |
Het |
| Ttc27 |
A |
G |
17: 75,046,728 (GRCm39) |
D263G |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,594,332 (GRCm39) |
P18793S |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,761,512 (GRCm39) |
V615A |
probably damaging |
Het |
| Vmn2r76 |
T |
G |
7: 85,879,495 (GRCm39) |
K268N |
probably benign |
Het |
| Zeb2 |
A |
G |
2: 44,884,487 (GRCm39) |
|
probably benign |
Het |
| Zfp286 |
C |
A |
11: 62,671,700 (GRCm39) |
K124N |
probably damaging |
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 |
|
IGL01595:C2cd5
|
APN |
6 |
142,963,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation