Incidental Mutation 'R1494:C2cd5'
ID |
163809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C2cd5
|
Ensembl Gene |
ENSMUSG00000030279 |
Gene Name |
C2 calcium-dependent domain containing 5 |
Synonyms |
5730419I09Rik, CDP138, C030008B15Rik |
MMRRC Submission |
039545-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.398)
|
Stock # |
R1494 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142956646-143045867 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 142987072 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145397
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087485]
[ENSMUST00000111758]
[ENSMUST00000171349]
[ENSMUST00000203187]
[ENSMUST00000203673]
[ENSMUST00000204655]
[ENSMUST00000205119]
[ENSMUST00000204043]
|
AlphaFold |
Q7TPS5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087485
|
SMART Domains |
Protein: ENSMUSP00000084758 Gene: ENSMUSG00000030279
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
|
SMART Domains |
Protein: ENSMUSP00000107388 Gene: ENSMUSG00000030279
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
|
SMART Domains |
Protein: ENSMUSP00000127834 Gene: ENSMUSG00000030279
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
|
SMART Domains |
Protein: ENSMUSP00000145373 Gene: ENSMUSG00000030279
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
|
SMART Domains |
Protein: ENSMUSP00000145425 Gene: ENSMUSG00000030279
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: ENSMUST00000204655
|
SMART Domains |
Protein: ENSMUSP00000145019 Gene: ENSMUSG00000030279
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204043
|
SMART Domains |
Protein: ENSMUSP00000145382 Gene: ENSMUSG00000030279
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.3%
|
Validation Efficiency |
97% (57/59) |
Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27)
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
A |
G |
17: 48,400,991 (GRCm39) |
E92G |
probably benign |
Het |
Abca13 |
C |
T |
11: 9,416,429 (GRCm39) |
Q4064* |
probably null |
Het |
Abca14 |
G |
A |
7: 119,815,524 (GRCm39) |
M257I |
probably benign |
Het |
Acsm2 |
T |
A |
7: 119,174,855 (GRCm39) |
C207S |
probably damaging |
Het |
Actr3 |
A |
G |
1: 125,344,018 (GRCm39) |
I67T |
probably benign |
Het |
Adcy7 |
T |
C |
8: 89,046,835 (GRCm39) |
V606A |
probably benign |
Het |
Ahnak2 |
G |
A |
12: 112,751,570 (GRCm39) |
S54F |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,870,388 (GRCm39) |
S848P |
probably damaging |
Het |
Atg3 |
C |
T |
16: 44,992,123 (GRCm39) |
|
probably benign |
Het |
Atp8b1 |
T |
A |
18: 64,697,597 (GRCm39) |
S416C |
probably damaging |
Het |
Capn11 |
A |
T |
17: 45,954,735 (GRCm39) |
V134E |
probably damaging |
Het |
Ccnd3 |
A |
G |
17: 47,909,033 (GRCm39) |
|
probably null |
Het |
Chaf1b |
T |
A |
16: 93,684,998 (GRCm39) |
V149E |
probably damaging |
Het |
Col5a2 |
T |
A |
1: 45,542,074 (GRCm39) |
M1L |
unknown |
Het |
Copa |
T |
C |
1: 171,931,694 (GRCm39) |
I315T |
probably benign |
Het |
Cyp3a57 |
A |
G |
5: 145,318,077 (GRCm39) |
M353V |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,160,942 (GRCm39) |
M828V |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,232,761 (GRCm39) |
K1080* |
probably null |
Het |
Dock6 |
A |
G |
9: 21,726,038 (GRCm39) |
V1424A |
probably benign |
Het |
Foxa1 |
T |
C |
12: 57,588,984 (GRCm39) |
D412G |
probably damaging |
Het |
Foxp4 |
G |
C |
17: 48,191,278 (GRCm39) |
|
probably benign |
Het |
Galnt9 |
T |
A |
5: 110,736,196 (GRCm39) |
S171T |
probably damaging |
Het |
Glt6d1 |
A |
G |
2: 25,684,260 (GRCm39) |
Y249H |
probably damaging |
Het |
Gm37240 |
A |
T |
3: 84,434,998 (GRCm39) |
Y104N |
probably damaging |
Het |
Gpx8 |
C |
T |
13: 113,182,149 (GRCm39) |
E95K |
possibly damaging |
Het |
Grm1 |
T |
C |
10: 10,565,450 (GRCm39) |
T953A |
probably benign |
Het |
Helz |
T |
C |
11: 107,494,889 (GRCm39) |
|
probably benign |
Het |
Hif3a |
T |
C |
7: 16,788,647 (GRCm39) |
Y108C |
probably damaging |
Het |
Kcnj13 |
A |
T |
1: 87,316,939 (GRCm39) |
L58Q |
probably damaging |
Het |
Mfsd14b |
A |
T |
13: 65,243,485 (GRCm39) |
V53D |
probably damaging |
Het |
Mrps7 |
G |
C |
11: 115,494,952 (GRCm39) |
|
probably benign |
Het |
Mug1 |
G |
A |
6: 121,856,259 (GRCm39) |
G1013D |
probably damaging |
Het |
Or52h7 |
T |
A |
7: 104,214,038 (GRCm39) |
Y203* |
probably null |
Het |
Or6c8 |
A |
T |
10: 128,915,484 (GRCm39) |
M116K |
probably damaging |
Het |
Pax6 |
T |
C |
2: 105,521,955 (GRCm39) |
I19T |
probably benign |
Het |
Pde8b |
G |
A |
13: 95,184,304 (GRCm39) |
R416C |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Pygl |
G |
A |
12: 70,246,504 (GRCm39) |
R348W |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,731,309 (GRCm39) |
D1874V |
probably damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sncaip |
T |
C |
18: 53,001,958 (GRCm39) |
S160P |
probably damaging |
Het |
Sptbn4 |
A |
G |
7: 27,133,719 (GRCm39) |
V79A |
probably damaging |
Het |
Sptlc3 |
A |
T |
2: 139,431,480 (GRCm39) |
Y334F |
possibly damaging |
Het |
Supt16 |
A |
G |
14: 52,409,916 (GRCm39) |
Y764H |
probably benign |
Het |
Syne3 |
A |
T |
12: 104,921,841 (GRCm39) |
V438E |
possibly damaging |
Het |
Tagap1 |
T |
C |
17: 7,224,210 (GRCm39) |
D162G |
probably damaging |
Het |
Terb1 |
T |
C |
8: 105,225,122 (GRCm39) |
|
probably benign |
Het |
Themis3 |
C |
A |
17: 66,866,949 (GRCm39) |
R97L |
probably benign |
Het |
Tnk1 |
T |
A |
11: 69,747,372 (GRCm39) |
E86D |
possibly damaging |
Het |
Tnpo3 |
A |
G |
6: 29,557,043 (GRCm39) |
L53P |
probably damaging |
Het |
Trpc6 |
G |
A |
9: 8,658,305 (GRCm39) |
R725K |
probably benign |
Het |
Ttll11 |
T |
G |
2: 35,685,391 (GRCm39) |
T566P |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,533,310 (GRCm39) |
T779S |
possibly damaging |
Het |
Zfp42 |
A |
G |
8: 43,748,638 (GRCm39) |
C288R |
possibly damaging |
Het |
Zfp763 |
G |
A |
17: 33,240,477 (GRCm39) |
T52I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTGAATTTTGCATGGAGGAAGCAC -3'
(R):5'- TGATGAACTGAACATGCCGTTTCCC -3'
Sequencing Primer
(F):5'- GGTCTCTAAAGCAGATATTTAGCC -3'
(R):5'- CGCTCATCTCACATATTGCTATAAC -3'
|
Posted On |
2014-03-28 |