Incidental Mutation 'R1475:C2cd5'
| ID |
163998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C2cd5
|
| Ensembl Gene |
ENSMUSG00000030279 |
| Gene Name |
C2 calcium-dependent domain containing 5 |
| Synonyms |
5730419I09Rik, CDP138, C030008B15Rik |
| MMRRC Submission |
039528-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.398)
|
| Stock # |
R1475 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142956646-143045867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143018298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 308
(D308G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145019
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087485]
[ENSMUST00000111758]
[ENSMUST00000171349]
[ENSMUST00000203187]
[ENSMUST00000203673]
[ENSMUST00000204655]
[ENSMUST00000205119]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000171349
AA Change: D308G
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279
AA Change: D308G
| 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: D308G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279
AA Change: D308G
| 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 |
noncoding transcript
Transcript: ENSMUST00000204160
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204655
AA Change: D308G
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279
AA Change: D308G
| 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: ENSMUST00000204967
|
| Meta Mutation Damage Score |
0.0890 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27)
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
A |
T |
8: 122,267,327 (GRCm39) |
|
probably benign |
Het |
| 9230112D13Rik |
T |
A |
14: 34,234,012 (GRCm39) |
D93V |
unknown |
Het |
| Aatk |
G |
A |
11: 119,901,714 (GRCm39) |
T894M |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,333,313 (GRCm39) |
I479T |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,987,278 (GRCm39) |
I431T |
probably damaging |
Het |
| Adgrl1 |
A |
G |
8: 84,664,979 (GRCm39) |
K1267R |
possibly damaging |
Het |
| Bphl |
A |
C |
13: 34,244,507 (GRCm39) |
D208A |
probably benign |
Het |
| Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
| Cdk11b |
G |
A |
4: 155,718,674 (GRCm39) |
R208H |
probably damaging |
Het |
| Cfap44 |
T |
C |
16: 44,254,175 (GRCm39) |
|
probably benign |
Het |
| Chrna4 |
T |
C |
2: 180,671,172 (GRCm39) |
S195G |
probably benign |
Het |
| Cpsf2 |
T |
C |
12: 101,951,495 (GRCm39) |
L144S |
probably damaging |
Het |
| Creld2 |
G |
A |
15: 88,704,834 (GRCm39) |
W103* |
probably null |
Het |
| Dffa |
T |
A |
4: 149,201,935 (GRCm39) |
L171Q |
probably damaging |
Het |
| Emcn |
C |
T |
3: 137,085,668 (GRCm39) |
H89Y |
possibly damaging |
Het |
| Espn |
G |
A |
4: 152,218,728 (GRCm39) |
P452S |
probably damaging |
Het |
| Fam78b |
T |
A |
1: 166,829,346 (GRCm39) |
I71N |
probably damaging |
Het |
| Fam89b |
A |
G |
19: 5,779,447 (GRCm39) |
S37P |
probably damaging |
Het |
| Fat4 |
G |
A |
3: 38,942,472 (GRCm39) |
R455H |
probably damaging |
Het |
| Fbxo6 |
A |
G |
4: 148,230,567 (GRCm39) |
F232L |
probably benign |
Het |
| Fcamr |
T |
A |
1: 130,742,221 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
T |
C |
19: 6,996,242 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,817,539 (GRCm39) |
D4424V |
probably damaging |
Het |
| Gaa |
G |
A |
11: 119,165,142 (GRCm39) |
|
probably null |
Het |
| Glce |
T |
C |
9: 61,968,210 (GRCm39) |
T314A |
possibly damaging |
Het |
| Hdac5 |
T |
C |
11: 102,093,012 (GRCm39) |
Q575R |
possibly damaging |
Het |
| Il23r |
C |
A |
6: 67,429,280 (GRCm39) |
|
probably null |
Het |
| Kcnj4 |
T |
A |
15: 79,368,831 (GRCm39) |
E383V |
probably damaging |
Het |
| Lrsam1 |
G |
T |
2: 32,844,277 (GRCm39) |
Q115K |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,882,797 (GRCm39) |
|
probably null |
Het |
| Myf5 |
A |
G |
10: 107,320,515 (GRCm39) |
V190A |
probably benign |
Het |
| Nmnat2 |
G |
A |
1: 152,950,441 (GRCm39) |
R42H |
probably damaging |
Het |
| Or8b42 |
T |
A |
9: 38,342,160 (GRCm39) |
V194D |
probably benign |
Het |
| Or8k20 |
A |
T |
2: 86,105,905 (GRCm39) |
*309R |
probably null |
Het |
| Osbpl1a |
T |
A |
18: 12,890,737 (GRCm39) |
K380M |
probably damaging |
Het |
| Pgd |
T |
C |
4: 149,241,232 (GRCm39) |
T226A |
probably benign |
Het |
| Pitpnm3 |
T |
C |
11: 71,965,453 (GRCm39) |
T127A |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,165 (GRCm39) |
D954G |
possibly damaging |
Het |
| Pramel14 |
T |
C |
4: 143,720,882 (GRCm39) |
K20E |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,801,047 (GRCm39) |
F236I |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,885,785 (GRCm39) |
N63S |
probably benign |
Het |
| Syf2 |
T |
A |
4: 134,662,745 (GRCm39) |
M145K |
possibly damaging |
Het |
| Usp34 |
C |
A |
11: 23,423,253 (GRCm39) |
L3152I |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,611,787 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,830,645 (GRCm39) |
I929N |
probably benign |
Het |
| Zfp874b |
A |
T |
13: 67,622,211 (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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCACTCCAGTTCTGAACTAGCC -3'
(R):5'- TCATGCTGCCAACTGTCAAGCC -3'
Sequencing Primer
(F):5'- GCAATTTGGTTGCAGACCTC -3'
(R):5'- AAGCCCTTTGGCACATGATTG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation