Incidental Mutation 'IGL03072:C2cd5'
ID |
417555 |
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 # |
IGL03072
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
142956646-143045867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143025609 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 196
(I196T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145019
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087485]
[ENSMUST00000111758]
[ENSMUST00000171349]
[ENSMUST00000203187]
[ENSMUST00000203673]
[ENSMUST00000204655]
[ENSMUST00000204140]
[ENSMUST00000205119]
|
AlphaFold |
Q7TPS5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087485
AA Change: I196T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000084758 Gene: ENSMUSG00000030279 AA Change: I196T
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 |
possibly damaging
Transcript: ENSMUST00000111758
AA Change: I196T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000107388 Gene: ENSMUSG00000030279 AA Change: I196T
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 |
possibly damaging
Transcript: ENSMUST00000171349
AA Change: I196T
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127834 Gene: ENSMUSG00000030279 AA Change: I196T
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 |
possibly damaging
Transcript: ENSMUST00000203187
AA Change: I196T
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000145373 Gene: ENSMUSG00000030279 AA Change: I196T
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 |
noncoding transcript
Transcript: ENSMUST00000203537
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203673
AA Change: I196T
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000145425 Gene: ENSMUSG00000030279 AA Change: I196T
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 |
possibly damaging
Transcript: ENSMUST00000204655
AA Change: I196T
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000145019 Gene: ENSMUSG00000030279 AA Change: I196T
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 |
possibly damaging
Transcript: ENSMUST00000204140
AA Change: I196T
PolyPhen 2
Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000145173 Gene: ENSMUSG00000030279 AA Change: I196T
Domain | Start | End | E-Value | Type |
C2
|
4 |
105 |
7.3e-18 |
SMART |
Blast:C2
|
127 |
177 |
1e-26 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204967
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205079
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204160
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27)
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
G |
A |
13: 77,408,116 (GRCm39) |
V148I |
probably benign |
Het |
Ahcyl2 |
T |
C |
6: 29,906,500 (GRCm39) |
|
probably benign |
Het |
Ahnak |
T |
C |
19: 8,983,872 (GRCm39) |
S1719P |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,874,474 (GRCm39) |
I849V |
probably benign |
Het |
Cpsf3 |
A |
G |
12: 21,345,089 (GRCm39) |
K134E |
possibly damaging |
Het |
Dnai1 |
A |
G |
4: 41,602,979 (GRCm39) |
T161A |
probably benign |
Het |
Gm17093 |
G |
T |
14: 44,758,129 (GRCm39) |
|
probably benign |
Het |
Igf2bp2 |
A |
G |
16: 21,886,891 (GRCm39) |
|
probably null |
Het |
Lcor |
T |
C |
19: 41,547,253 (GRCm39) |
V279A |
possibly damaging |
Het |
Myo9a |
C |
A |
9: 59,716,725 (GRCm39) |
T475K |
possibly damaging |
Het |
Nat8f4 |
A |
G |
6: 85,877,836 (GRCm39) |
|
probably benign |
Het |
Neto1 |
A |
G |
18: 86,516,714 (GRCm39) |
T344A |
probably benign |
Het |
Or6c203 |
A |
T |
10: 129,010,358 (GRCm39) |
D177E |
probably damaging |
Het |
Or7c19 |
A |
G |
8: 85,957,139 (GRCm39) |
N5S |
probably benign |
Het |
Or8k17 |
A |
T |
2: 86,066,804 (GRCm39) |
M118K |
probably damaging |
Het |
Pde8a |
A |
T |
7: 80,958,557 (GRCm39) |
I312F |
probably damaging |
Het |
Ppp3cb |
A |
G |
14: 20,581,793 (GRCm39) |
I74T |
probably damaging |
Het |
Prom1 |
T |
C |
5: 44,216,004 (GRCm39) |
|
probably benign |
Het |
Psg29 |
T |
C |
7: 16,942,719 (GRCm39) |
V240A |
probably benign |
Het |
Reep4 |
T |
C |
14: 70,785,675 (GRCm39) |
S238P |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tmprss5 |
T |
A |
9: 49,020,318 (GRCm39) |
N99K |
possibly damaging |
Het |
Tph1 |
G |
A |
7: 46,302,283 (GRCm39) |
T313M |
probably damaging |
Het |
Tprn |
T |
C |
2: 25,154,530 (GRCm39) |
S611P |
probably damaging |
Het |
Upp2 |
G |
T |
2: 58,645,435 (GRCm39) |
|
probably null |
Het |
Vezt |
C |
A |
10: 93,809,895 (GRCm39) |
A549S |
probably damaging |
Het |
Zfp786 |
A |
G |
6: 47,798,177 (GRCm39) |
Y254H |
probably benign |
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 |
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 |
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 |
2016-08-02 |