Incidental Mutation 'R6165:C2cd5'
ID |
490088 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C2cd5
|
Ensembl Gene |
ENSMUSG00000030279 |
Gene Name |
C2 calcium-dependent domain containing 5 |
Synonyms |
5730419I09Rik, CDP138, C030008B15Rik |
MMRRC Submission |
044311-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.398)
|
Stock # |
R6165 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
142956646-143045867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142995954 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 389
(T389A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145425
(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: T378A
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000084758 Gene: ENSMUSG00000030279 AA Change: T378A
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: T378A
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000107388 Gene: ENSMUSG00000030279 AA Change: T378A
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: T387A
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000127834 Gene: ENSMUSG00000030279 AA Change: T387A
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: T387A
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000145373 Gene: ENSMUSG00000030279 AA Change: T387A
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 |
possibly damaging
Transcript: ENSMUST00000203673
AA Change: T389A
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000145425 Gene: ENSMUSG00000030279 AA Change: T389A
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: T84A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000145382 Gene: ENSMUSG00000030279 AA Change: T84A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204655
AA Change: T387A
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000145019 Gene: ENSMUSG00000030279 AA Change: T387A
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 |
noncoding transcript
Transcript: ENSMUST00000204233
|
Meta Mutation Damage Score |
0.0925 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.1%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27)
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd35 |
A |
G |
3: 96,590,623 (GRCm39) |
E303G |
possibly damaging |
Het |
Atosa |
A |
G |
9: 74,932,954 (GRCm39) |
T974A |
probably damaging |
Het |
Catsperb |
T |
A |
12: 101,542,075 (GRCm39) |
Y592N |
possibly damaging |
Het |
Cfap91 |
A |
G |
16: 38,154,173 (GRCm39) |
F124S |
possibly damaging |
Het |
Cnot9 |
T |
C |
1: 74,567,952 (GRCm39) |
V280A |
probably benign |
Het |
Cyld |
A |
G |
8: 89,473,561 (GRCm39) |
I927V |
possibly damaging |
Het |
Etfdh |
A |
T |
3: 79,512,251 (GRCm39) |
S490T |
probably benign |
Het |
Fance |
C |
T |
17: 28,545,068 (GRCm39) |
R150C |
probably benign |
Het |
Far1 |
A |
G |
7: 113,153,425 (GRCm39) |
K353E |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,174,283 (GRCm39) |
I1858V |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,874,492 (GRCm39) |
K1359E |
probably benign |
Het |
Ghdc |
T |
G |
11: 100,659,928 (GRCm39) |
E273A |
possibly damaging |
Het |
Gpt |
A |
G |
15: 76,582,170 (GRCm39) |
D209G |
probably benign |
Het |
Hspb7 |
T |
C |
4: 141,149,862 (GRCm39) |
F83L |
probably benign |
Het |
Itga7 |
A |
G |
10: 128,778,804 (GRCm39) |
I306M |
probably benign |
Het |
Itgb5 |
A |
G |
16: 33,719,612 (GRCm39) |
E261G |
probably benign |
Het |
Kcnj14 |
G |
T |
7: 45,469,424 (GRCm39) |
A27E |
possibly damaging |
Het |
Kif13b |
A |
G |
14: 64,979,760 (GRCm39) |
H470R |
probably damaging |
Het |
Macroh2a1 |
A |
T |
13: 56,252,268 (GRCm39) |
N108K |
probably damaging |
Het |
Morc3 |
T |
C |
16: 93,638,271 (GRCm39) |
F18L |
probably damaging |
Het |
Mrgprb8 |
T |
A |
7: 48,038,565 (GRCm39) |
C79S |
possibly damaging |
Het |
Mroh2b |
T |
A |
15: 4,947,832 (GRCm39) |
M549K |
probably benign |
Het |
Msl1 |
T |
C |
11: 98,695,673 (GRCm39) |
V563A |
probably damaging |
Het |
Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
Or5b124 |
A |
T |
19: 13,610,507 (GRCm39) |
I11F |
possibly damaging |
Het |
Or5b124 |
C |
T |
19: 13,610,952 (GRCm39) |
A159V |
probably benign |
Het |
Phf2 |
C |
A |
13: 48,967,341 (GRCm39) |
|
probably null |
Het |
Pjvk |
T |
G |
2: 76,480,562 (GRCm39) |
|
probably null |
Het |
Rgl2 |
A |
G |
17: 34,150,739 (GRCm39) |
T66A |
probably benign |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rtkn |
G |
T |
6: 83,122,944 (GRCm39) |
E67D |
probably damaging |
Het |
Serpinb9 |
T |
A |
13: 33,192,807 (GRCm39) |
F121L |
possibly damaging |
Het |
Slc34a1 |
G |
A |
13: 23,999,053 (GRCm39) |
V149I |
probably benign |
Het |
Sobp |
A |
G |
10: 42,898,599 (GRCm39) |
S329P |
probably damaging |
Het |
Syne1 |
A |
T |
10: 5,375,678 (GRCm39) |
L138Q |
probably damaging |
Het |
Tfr2 |
T |
A |
5: 137,578,519 (GRCm39) |
V449D |
probably damaging |
Het |
Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,220,940 (GRCm39) |
V2559A |
probably benign |
Het |
Trim35 |
T |
C |
14: 66,546,654 (GRCm39) |
Y474H |
probably damaging |
Het |
Uso1 |
A |
T |
5: 92,335,126 (GRCm39) |
L495F |
probably damaging |
Het |
Wdr24 |
A |
G |
17: 26,045,395 (GRCm39) |
I377V |
probably benign |
Het |
Xpo5 |
T |
A |
17: 46,546,883 (GRCm39) |
V878D |
possibly damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,256,574 (GRCm39) |
I1515V |
probably benign |
Het |
Zfp319 |
CA |
C |
8: 96,054,733 (GRCm39) |
489 |
probably null |
Het |
Zfp384 |
T |
G |
6: 125,001,896 (GRCm39) |
|
probably null |
Het |
Zfp704 |
G |
T |
3: 9,508,946 (GRCm39) |
P416T |
probably benign |
Het |
Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
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 |
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'- CGTATTGCTCCAGCTCACAC -3'
(R):5'- CCTTGACATGGTAGCGCTAG -3'
Sequencing Primer
(F):5'- GTATTGCTCCAGCTCACACAATCAG -3'
(R):5'- CAGAGTGGTCTGTCCTAGCAATAC -3'
|
Posted On |
2017-10-10 |