Incidental Mutation 'R4478:Cpne5'
| ID |
331380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne5
|
| Ensembl Gene |
ENSMUSG00000024008 |
| Gene Name |
copine V |
| Synonyms |
A830083G22Rik |
| MMRRC Submission |
041735-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
29375495-29456764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29428450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 118
(T118A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024805]
[ENSMUST00000137727]
|
| AlphaFold |
Q8JZW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024805
AA Change: T118A
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000024805
Gene: ENSMUSG00000024008
AA Change: T118A
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
23 |
131 |
2.09e-9 |
SMART |
|
C2
|
161 |
283 |
1.88e-11 |
SMART |
|
low complexity region
|
290 |
297 |
N/A |
INTRINSIC |
|
VWA
|
326 |
519 |
1.52e-13 |
SMART |
|
low complexity region
|
564 |
588 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137727
AA Change: T118A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117982
Gene: ENSMUSG00000024008
AA Change: T118A
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
23 |
131 |
2.09e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.0729 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
94% (46/49) |
| MGI Phenotype |
FUNCTION: Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encodes a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,185,171 (GRCm39) |
D509G |
probably benign |
Het |
| Ank1 |
C |
T |
8: 23,610,594 (GRCm39) |
T1379I |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,209,509 (GRCm39) |
V389A |
probably benign |
Het |
| Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,760,659 (GRCm39) |
|
probably benign |
Het |
| Chp2 |
A |
G |
7: 121,820,141 (GRCm39) |
D97G |
probably benign |
Het |
| D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
| Dag1 |
G |
C |
9: 108,085,929 (GRCm39) |
T404R |
probably damaging |
Het |
| Dnah3 |
T |
G |
7: 119,671,086 (GRCm39) |
H599P |
probably benign |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Fabp9 |
T |
C |
3: 10,262,166 (GRCm39) |
Y30C |
probably damaging |
Het |
| Fnbp1 |
G |
A |
2: 30,995,266 (GRCm39) |
A56V |
probably damaging |
Het |
| Hid1 |
G |
A |
11: 115,252,481 (GRCm39) |
A67V |
probably damaging |
Het |
| Il6ra |
T |
A |
3: 89,797,597 (GRCm39) |
Y90F |
probably damaging |
Het |
| Kcnk18 |
T |
C |
19: 59,223,676 (GRCm39) |
S274P |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,500,600 (GRCm39) |
D655V |
probably damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,607,391 (GRCm39) |
A585T |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Myo9b |
A |
T |
8: 71,743,725 (GRCm39) |
K262M |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or10aa1 |
C |
T |
1: 173,870,182 (GRCm39) |
T222I |
probably benign |
Het |
| Or6c6b |
C |
T |
10: 129,147,645 (GRCm39) |
L90F |
possibly damaging |
Het |
| Or8h10 |
G |
T |
2: 86,808,562 (GRCm39) |
R193S |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,173,068 (GRCm39) |
C1288S |
possibly damaging |
Het |
| Ptpn22 |
T |
C |
3: 103,809,380 (GRCm39) |
|
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 26,235,057 (GRCm39) |
E619K |
probably damaging |
Het |
| Robo2 |
C |
A |
16: 73,812,761 (GRCm39) |
R311L |
probably damaging |
Het |
| S2bpcox16 |
T |
C |
12: 81,535,990 (GRCm39) |
|
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,424,990 (GRCm39) |
L407* |
probably null |
Het |
| Snap29 |
T |
C |
16: 17,246,019 (GRCm39) |
V213A |
probably benign |
Het |
| Spef1l |
A |
T |
7: 139,555,773 (GRCm39) |
|
probably null |
Het |
| Stard7 |
T |
A |
2: 127,126,179 (GRCm39) |
L77Q |
probably damaging |
Het |
| Stat5b |
A |
G |
11: 100,678,110 (GRCm39) |
Y668H |
probably benign |
Het |
| Tgfb2 |
A |
G |
1: 186,364,696 (GRCm39) |
I266T |
probably damaging |
Het |
| Tmem87a |
C |
T |
2: 120,199,824 (GRCm39) |
W440* |
probably null |
Het |
| Tnr |
T |
A |
1: 159,712,326 (GRCm39) |
|
probably null |
Het |
| Ubl3 |
C |
T |
5: 148,448,787 (GRCm39) |
S18N |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r9 |
T |
C |
5: 108,994,143 (GRCm39) |
E502G |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,106,241 (GRCm39) |
D61E |
probably benign |
Het |
| Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
| Zfp1 |
A |
G |
8: 112,397,175 (GRCm39) |
R366G |
probably damaging |
Het |
| Zfp282 |
A |
T |
6: 47,867,630 (GRCm39) |
R269* |
probably null |
Het |
|
| Other mutations in Cpne5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02626:Cpne5
|
APN |
17 |
29,379,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Cpne5
|
UTSW |
17 |
29,430,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Cpne5
|
UTSW |
17 |
29,430,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Cpne5
|
UTSW |
17 |
29,395,163 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0699:Cpne5
|
UTSW |
17 |
29,428,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0891:Cpne5
|
UTSW |
17 |
29,421,893 (GRCm39) |
splice site |
probably benign |
|
|
R1872:Cpne5
|
UTSW |
17 |
29,423,667 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2167:Cpne5
|
UTSW |
17 |
29,381,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3901:Cpne5
|
UTSW |
17 |
29,378,082 (GRCm39) |
missense |
unknown |
|
|
R4037:Cpne5
|
UTSW |
17 |
29,378,087 (GRCm39) |
missense |
unknown |
|
|
R4588:Cpne5
|
UTSW |
17 |
29,383,687 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4853:Cpne5
|
UTSW |
17 |
29,380,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5630:Cpne5
|
UTSW |
17 |
29,445,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Cpne5
|
UTSW |
17 |
29,402,991 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7019:Cpne5
|
UTSW |
17 |
29,445,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Cpne5
|
UTSW |
17 |
29,378,051 (GRCm39) |
missense |
unknown |
|
|
R7472:Cpne5
|
UTSW |
17 |
29,423,714 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7596:Cpne5
|
UTSW |
17 |
29,445,191 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7649:Cpne5
|
UTSW |
17 |
29,445,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Cpne5
|
UTSW |
17 |
29,407,261 (GRCm39) |
splice site |
probably null |
|
|
R8406:Cpne5
|
UTSW |
17 |
29,428,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8444:Cpne5
|
UTSW |
17 |
29,407,357 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8795:Cpne5
|
UTSW |
17 |
29,423,662 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8821:Cpne5
|
UTSW |
17 |
29,430,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9049:Cpne5
|
UTSW |
17 |
29,379,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Cpne5
|
UTSW |
17 |
29,430,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9091:Cpne5
|
UTSW |
17 |
29,444,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9270:Cpne5
|
UTSW |
17 |
29,444,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9334:Cpne5
|
UTSW |
17 |
29,423,673 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9600:Cpne5
|
UTSW |
17 |
29,380,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cpne5
|
UTSW |
17 |
29,378,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACACAAGCTCTAATAACTTAGCC -3'
(R):5'- TATCTAAACACGTGAGTTCCGC -3'
Sequencing Primer
(F):5'- AGCTCTAATAACTTAGCCTGGTTGG -3'
(R):5'- TGAGTTCCGCCCGTGAATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation