Incidental Mutation 'R4691:C2cd5'
ID |
354905 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
C2cd5
|
Ensembl Gene |
ENSMUSG00000030279 |
Gene Name |
C2 calcium-dependent domain containing 5 |
Synonyms |
5730419I09Rik, CDP138, C030008B15Rik |
MMRRC Submission |
041942-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.398)
|
Stock # |
R4691 (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 142975874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 769
(S769P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087485]
[ENSMUST00000111758]
[ENSMUST00000171349]
[ENSMUST00000203187]
[ENSMUST00000203673]
[ENSMUST00000204655]
[ENSMUST00000205119]
|
AlphaFold |
Q7TPS5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087485
AA Change: S769P
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000084758 Gene: ENSMUSG00000030279 AA Change: S769P
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: S769P
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000107388 Gene: ENSMUSG00000030279 AA Change: S769P
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: S778P
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000127834 Gene: ENSMUSG00000030279 AA Change: S778P
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: S778P
PolyPhen 2
Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000145373 Gene: ENSMUSG00000030279 AA Change: S778P
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
AA Change: S780P
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000145425 Gene: ENSMUSG00000030279 AA Change: S780P
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
AA Change: S778P
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000145019 Gene: ENSMUSG00000030279 AA Change: S778P
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 |
0.0910 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
97% (70/72) |
Allele List at MGI |
All alleles(29) : Targeted, other(2) Gene trapped(27)
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,384,195 (GRCm39) |
R3882S |
probably damaging |
Het |
Adamts2 |
G |
T |
11: 50,647,523 (GRCm39) |
V299F |
probably damaging |
Het |
Ankrd50 |
A |
G |
3: 38,537,159 (GRCm39) |
S65P |
probably benign |
Het |
Ap4e1 |
T |
C |
2: 126,903,791 (GRCm39) |
C898R |
probably benign |
Het |
Arel1 |
A |
T |
12: 84,977,023 (GRCm39) |
|
probably null |
Het |
Bag6 |
T |
A |
17: 35,358,224 (GRCm39) |
V164D |
probably damaging |
Het |
Cables1 |
C |
T |
18: 11,973,580 (GRCm39) |
Q240* |
probably null |
Het |
Ccnb1-ps |
T |
A |
7: 41,755,516 (GRCm39) |
|
noncoding transcript |
Het |
Ccz1 |
A |
T |
5: 143,928,380 (GRCm39) |
I390N |
possibly damaging |
Het |
Ceacam23 |
T |
A |
7: 17,642,891 (GRCm39) |
S434T |
possibly damaging |
Het |
Ces1a |
T |
C |
8: 93,759,287 (GRCm39) |
H283R |
probably benign |
Het |
Clca3b |
G |
A |
3: 144,544,853 (GRCm39) |
T378I |
probably benign |
Het |
Cpne2 |
A |
T |
8: 95,284,849 (GRCm39) |
I342F |
probably damaging |
Het |
Cyp2d9 |
A |
G |
15: 82,340,033 (GRCm39) |
D141G |
probably damaging |
Het |
Ddias |
T |
A |
7: 92,508,024 (GRCm39) |
K630N |
probably damaging |
Het |
Dennd4b |
A |
G |
3: 90,179,619 (GRCm39) |
T626A |
probably damaging |
Het |
Disc1 |
T |
C |
8: 125,875,186 (GRCm39) |
V554A |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,852,581 (GRCm39) |
T1880A |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Epop |
C |
T |
11: 97,519,719 (GRCm39) |
G130D |
possibly damaging |
Het |
Erap1 |
T |
C |
13: 74,821,811 (GRCm39) |
L722P |
probably damaging |
Het |
Eya4 |
T |
A |
10: 23,015,966 (GRCm39) |
T334S |
probably benign |
Het |
Ezr |
T |
C |
17: 7,026,961 (GRCm39) |
I5V |
probably benign |
Het |
Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
Galnt12 |
T |
C |
4: 47,104,143 (GRCm39) |
S134P |
probably damaging |
Het |
Gcfc2 |
T |
A |
6: 81,918,408 (GRCm39) |
L366* |
probably null |
Het |
Gins4 |
T |
A |
8: 23,727,075 (GRCm39) |
D6V |
probably benign |
Het |
Grid1 |
A |
G |
14: 35,291,514 (GRCm39) |
H807R |
probably benign |
Het |
H2-T22 |
GTTTT |
GTTT |
17: 36,352,462 (GRCm39) |
|
probably null |
Het |
Ighv1-66 |
T |
C |
12: 115,556,929 (GRCm39) |
Y51C |
probably benign |
Het |
Inpp4b |
A |
T |
8: 82,849,282 (GRCm39) |
Y901F |
probably damaging |
Het |
Irf2 |
T |
A |
8: 47,299,222 (GRCm39) |
S339T |
probably damaging |
Het |
Itgae |
G |
T |
11: 73,010,345 (GRCm39) |
G612* |
probably null |
Het |
Kdr |
T |
C |
5: 76,105,259 (GRCm39) |
K1037R |
possibly damaging |
Het |
Mro |
A |
T |
18: 74,006,397 (GRCm39) |
M115L |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,087,438 (GRCm39) |
E1098G |
probably damaging |
Het |
Nkx2-1 |
T |
A |
12: 56,580,350 (GRCm39) |
M197L |
probably benign |
Het |
Or7e165 |
T |
C |
9: 19,694,678 (GRCm39) |
I83T |
probably benign |
Het |
Pank2 |
T |
A |
2: 131,138,201 (GRCm39) |
F430L |
possibly damaging |
Het |
Pcx |
T |
A |
19: 4,669,505 (GRCm39) |
V794E |
probably damaging |
Het |
Pdgfd |
C |
T |
9: 6,288,556 (GRCm39) |
P70L |
probably damaging |
Het |
Pla2g4e |
T |
C |
2: 120,004,781 (GRCm39) |
Y521C |
probably damaging |
Het |
Pou5f1 |
T |
A |
17: 35,817,028 (GRCm39) |
F11Y |
probably damaging |
Het |
Prdm9 |
A |
G |
17: 15,773,640 (GRCm39) |
M252T |
probably benign |
Het |
Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
Rad51ap1 |
A |
G |
6: 126,904,516 (GRCm39) |
S123P |
probably benign |
Het |
Robo3 |
T |
C |
9: 37,336,514 (GRCm39) |
E418G |
probably damaging |
Het |
Sos2 |
C |
T |
12: 69,663,102 (GRCm39) |
R631H |
probably damaging |
Het |
Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
St3gal2 |
C |
T |
8: 111,684,417 (GRCm39) |
T25I |
probably benign |
Het |
Stra6l |
G |
A |
4: 45,882,851 (GRCm39) |
A521T |
probably benign |
Het |
Syt7 |
T |
A |
19: 10,403,845 (GRCm39) |
L177Q |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,191,844 (GRCm39) |
Q863H |
possibly damaging |
Het |
Tmem232 |
T |
C |
17: 65,572,237 (GRCm39) |
K585E |
possibly damaging |
Het |
Trpc6 |
A |
C |
9: 8,652,979 (GRCm39) |
E595A |
probably damaging |
Het |
Txnl1 |
A |
G |
18: 63,804,750 (GRCm39) |
V248A |
possibly damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,387,119 (GRCm39) |
L815* |
probably null |
Het |
Vmn2r81 |
C |
T |
10: 79,129,211 (GRCm39) |
Q701* |
probably null |
Het |
Vps13c |
T |
C |
9: 67,860,217 (GRCm39) |
V2811A |
possibly damaging |
Het |
Vsig10l2 |
T |
C |
9: 35,428,158 (GRCm39) |
S106G |
possibly damaging |
Het |
Zfp354a |
A |
G |
11: 50,961,064 (GRCm39) |
E425G |
probably damaging |
Het |
Zfp617 |
A |
T |
8: 72,686,659 (GRCm39) |
T330S |
probably benign |
Het |
Zfp663 |
G |
T |
2: 165,201,050 (GRCm39) |
|
probably benign |
Het |
Zfp84 |
T |
C |
7: 29,476,505 (GRCm39) |
L399P |
probably damaging |
Het |
Zfp869 |
A |
T |
8: 70,159,513 (GRCm39) |
C353* |
probably null |
Het |
Zscan22 |
C |
T |
7: 12,640,488 (GRCm39) |
A85V |
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 |
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 |
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'- ACAGCCTGATGCAAGCTAAG -3'
(R):5'- AAACCTTGCTGTCACCCAG -3'
Sequencing Primer
(F):5'- TGATGCAAGCTAAGACATACCTTCAG -3'
(R):5'- TGCTGACACTGCACTCTCAAGG -3'
|
Posted On |
2015-10-21 |