Incidental Mutation 'R0497:C2cd5'
| ID |
40529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
C2cd5
|
| Ensembl Gene |
ENSMUSG00000030279 |
| Gene Name |
C2 calcium-dependent domain containing 5 |
| Synonyms |
5730419I09Rik, CDP138, C030008B15Rik |
| MMRRC Submission |
038693-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.417)
|
| Stock # |
R0497 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142956646-143045867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142957819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 972
(V972A)
|
| 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
AA Change: V963A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000084758
Gene: ENSMUSG00000030279
AA Change: V963A
| 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: V963A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000107388
Gene: ENSMUSG00000030279
AA Change: V963A
| 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: V972A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127834
Gene: ENSMUSG00000030279
AA Change: V972A
| 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: V989A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000145373
Gene: ENSMUSG00000030279
AA Change: V989A
| 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: ENSMUST00000203673
AA Change: V1025A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000145425
Gene: ENSMUSG00000030279
AA Change: V1025A
| 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: ENSMUST00000204635
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204655
AA Change: V972A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000145019
Gene: ENSMUSG00000030279
AA Change: V972A
| 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 |
|
| Meta Mutation Damage Score |
0.0879 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27)
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
C |
11: 119,909,606 (GRCm39) |
V110G |
probably damaging |
Het |
| Adcy6 |
A |
C |
15: 98,495,606 (GRCm39) |
|
probably null |
Het |
| Adm |
A |
G |
7: 110,228,328 (GRCm39) |
T170A |
probably benign |
Het |
| Afap1l2 |
G |
T |
19: 56,918,641 (GRCm39) |
N171K |
probably benign |
Het |
| Aph1b |
G |
T |
9: 66,697,900 (GRCm39) |
S112* |
probably null |
Het |
| Arhgap23 |
A |
G |
11: 97,342,989 (GRCm39) |
S424G |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,032,031 (GRCm39) |
N46I |
probably benign |
Het |
| Braf |
G |
A |
6: 39,617,483 (GRCm39) |
|
probably benign |
Het |
| Brd2 |
C |
T |
17: 34,333,334 (GRCm39) |
R47Q |
probably damaging |
Het |
| Car9 |
T |
A |
4: 43,511,881 (GRCm39) |
L300H |
probably damaging |
Het |
| Chmp3 |
T |
C |
6: 71,529,395 (GRCm39) |
S20P |
probably damaging |
Het |
| Chp1 |
A |
G |
2: 119,402,263 (GRCm39) |
N79S |
possibly damaging |
Het |
| Cnot2 |
A |
T |
10: 116,334,260 (GRCm39) |
I335N |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,296,783 (GRCm39) |
V6A |
probably benign |
Het |
| Ctcf |
T |
A |
8: 106,401,672 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
A |
G |
1: 138,967,724 (GRCm39) |
|
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,845,079 (GRCm39) |
|
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,017,420 (GRCm39) |
F782L |
probably benign |
Het |
| Eogt |
T |
A |
6: 97,112,194 (GRCm39) |
Y153F |
probably benign |
Het |
| Fam81a |
G |
T |
9: 70,003,401 (GRCm39) |
Q237K |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,174,228 (GRCm39) |
T2162S |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,846,890 (GRCm39) |
C1158S |
probably damaging |
Het |
| Gas6 |
T |
C |
8: 13,520,387 (GRCm39) |
I434V |
possibly damaging |
Het |
| Gm42417 |
A |
T |
1: 36,571,248 (GRCm39) |
L77Q |
probably damaging |
Het |
| Grik3 |
A |
T |
4: 125,517,303 (GRCm39) |
N49Y |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,114,985 (GRCm39) |
V974E |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,871,449 (GRCm39) |
V2721A |
probably damaging |
Het |
| Klhl6 |
GT |
G |
16: 19,775,716 (GRCm39) |
279 |
probably null |
Het |
| Krt73 |
A |
G |
15: 101,710,665 (GRCm39) |
L23P |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,158,772 (GRCm39) |
|
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,091,710 (GRCm39) |
V543E |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,167,809 (GRCm39) |
|
probably benign |
Het |
| Med25 |
T |
C |
7: 44,541,524 (GRCm39) |
D60G |
probably damaging |
Het |
| Mgam |
T |
A |
6: 40,641,826 (GRCm39) |
Y560N |
probably damaging |
Het |
| Mlkl |
A |
G |
8: 112,054,505 (GRCm39) |
Y211H |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,978,493 (GRCm39) |
N289S |
probably benign |
Het |
| Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
| Omt2b |
T |
C |
9: 78,235,513 (GRCm39) |
|
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,175 (GRCm39) |
D137G |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,177,094 (GRCm39) |
L652P |
probably damaging |
Het |
| Pard3b |
T |
A |
1: 62,479,167 (GRCm39) |
|
probably null |
Het |
| Prdm15 |
G |
A |
16: 97,595,534 (GRCm39) |
T1098I |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 17,004,954 (GRCm39) |
T436A |
probably benign |
Het |
| Sema4c |
A |
T |
1: 36,588,689 (GRCm39) |
D812E |
probably benign |
Het |
| Sla |
A |
T |
15: 66,664,098 (GRCm39) |
I91K |
probably benign |
Het |
| Slc22a16 |
T |
G |
10: 40,460,963 (GRCm39) |
M255R |
probably damaging |
Het |
| Slc49a4 |
A |
T |
16: 35,555,974 (GRCm39) |
V162D |
probably benign |
Het |
| Smg8 |
C |
T |
11: 86,976,910 (GRCm39) |
D224N |
possibly damaging |
Het |
| Spdef |
A |
T |
17: 27,937,032 (GRCm39) |
D190E |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,464,630 (GRCm39) |
I152T |
probably damaging |
Het |
| Tmem220 |
A |
G |
11: 66,916,748 (GRCm39) |
D36G |
probably damaging |
Het |
| Tmem235 |
A |
C |
11: 117,755,177 (GRCm39) |
I210L |
probably benign |
Het |
| Tmem266 |
C |
T |
9: 55,288,168 (GRCm39) |
|
probably null |
Het |
| Tmprss12 |
A |
G |
15: 100,178,920 (GRCm39) |
|
probably benign |
Het |
| Trim32 |
G |
A |
4: 65,531,491 (GRCm39) |
R16Q |
probably damaging |
Het |
| Usp38 |
T |
A |
8: 81,711,053 (GRCm39) |
|
probably benign |
Het |
| Usp44 |
C |
T |
10: 93,682,668 (GRCm39) |
P373S |
possibly damaging |
Het |
| Vmn1r209 |
G |
T |
13: 22,990,118 (GRCm39) |
Q191K |
probably damaging |
Het |
| Vmn1r70 |
T |
C |
7: 10,367,953 (GRCm39) |
I147T |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,595,394 (GRCm39) |
I649N |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,239,755 (GRCm39) |
Y269* |
probably null |
Het |
| Zan |
C |
T |
5: 137,410,938 (GRCm39) |
|
probably benign |
Het |
| Zfp616 |
G |
T |
11: 73,974,306 (GRCm39) |
V192L |
probably benign |
Het |
| Zfp644 |
A |
T |
5: 106,786,199 (GRCm39) |
V116D |
probably damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,378,299 (GRCm39) |
|
probably benign |
Het |
| Zhx3 |
A |
T |
2: 160,621,914 (GRCm39) |
L751* |
probably null |
Het |
| Znfx1 |
T |
A |
2: 166,897,331 (GRCm39) |
Q531L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAATTCTCAACTCTCCCAGATGTGC -3'
(R):5'- GCTTTAGCAACATCCAGCTTTCACC -3'
Sequencing Primer
(F):5'- GCTATCCAGCCGCATCC -3'
(R):5'- CATAAGGCATGGCCTCTTATTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation