Incidental Mutation 'R8002:Cpne3'
| ID |
616394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne3
|
| Ensembl Gene |
ENSMUSG00000028228 |
| Gene Name |
copine III |
| Synonyms |
5430428M23Rik, CPN3, PRO1071, 5730450C07Rik |
| MMRRC Submission |
046042-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R8002 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
19519254-19570108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19528232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 342
(F342I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029885]
|
| AlphaFold |
Q8BT60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029885
AA Change: F342I
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228
AA Change: F342I
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
7 |
114 |
1.06e-10 |
SMART |
|
C2
|
139 |
245 |
9.53e-13 |
SMART |
|
low complexity region
|
253 |
262 |
N/A |
INTRINSIC |
|
VWA
|
289 |
495 |
7.54e-18 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
C |
T |
7: 119,172,480 (GRCm39) |
R133C |
possibly damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,978,683 (GRCm39) |
E220G |
probably benign |
Het |
| Alx3 |
T |
A |
3: 107,508,055 (GRCm39) |
L188* |
probably null |
Het |
| Arhgef2 |
A |
T |
3: 88,554,117 (GRCm39) |
I969F |
probably damaging |
Het |
| Atf6 |
A |
G |
1: 170,646,823 (GRCm39) |
V350A |
probably benign |
Het |
| Atp1a3 |
C |
A |
7: 24,700,096 (GRCm39) |
G88V |
probably damaging |
Het |
| Brd8 |
T |
C |
18: 34,741,609 (GRCm39) |
T360A |
probably benign |
Het |
| Casp1 |
C |
A |
9: 5,303,164 (GRCm39) |
T206K |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,311,656 (GRCm39) |
E214G |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,525,343 (GRCm39) |
E477G |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,311,285 (GRCm39) |
R1409S |
probably damaging |
Het |
| Chd6 |
T |
C |
2: 160,832,241 (GRCm39) |
D977G |
probably damaging |
Het |
| Crot |
A |
C |
5: 9,043,599 (GRCm39) |
S8A |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,727,881 (GRCm39) |
H67R |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 31,020,679 (GRCm39) |
L1230H |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,035,558 (GRCm39) |
D24N |
probably damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,384,716 (GRCm39) |
T282A |
possibly damaging |
Het |
| Gm13199 |
A |
G |
2: 5,867,458 (GRCm39) |
S13P |
unknown |
Het |
| Gnptab |
A |
T |
10: 88,276,130 (GRCm39) |
D1139V |
probably benign |
Het |
| Hdac1-ps |
T |
C |
17: 78,799,716 (GRCm39) |
S236P |
probably damaging |
Het |
| Jtb |
T |
C |
3: 90,141,251 (GRCm39) |
S76P |
probably benign |
Het |
| Klk1b27 |
T |
A |
7: 43,705,445 (GRCm39) |
D172E |
probably benign |
Het |
| Lpcat4 |
G |
A |
2: 112,074,699 (GRCm39) |
V307I |
probably benign |
Het |
| Ltn1 |
A |
C |
16: 87,212,835 (GRCm39) |
S575R |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,723,878 (GRCm39) |
T287A |
probably benign |
Het |
| Marco |
T |
G |
1: 120,422,509 (GRCm39) |
I58L |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,655 (GRCm39) |
|
probably null |
Het |
| Or11h7 |
A |
T |
14: 50,891,314 (GRCm39) |
I207F |
probably damaging |
Het |
| Otof |
G |
A |
5: 30,537,954 (GRCm39) |
T1215I |
probably benign |
Het |
| Pigw |
A |
T |
11: 84,769,249 (GRCm39) |
C27S |
probably benign |
Het |
| Pla2g10 |
A |
T |
16: 13,542,912 (GRCm39) |
M125K |
unknown |
Het |
| Rfx4 |
A |
C |
10: 84,676,721 (GRCm39) |
M204L |
probably damaging |
Het |
| Septin1 |
T |
C |
7: 126,815,074 (GRCm39) |
D209G |
probably damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc26a4 |
T |
C |
12: 31,597,969 (GRCm39) |
D159G |
probably benign |
Het |
| Sptbn4 |
C |
A |
7: 27,117,417 (GRCm39) |
S444I |
possibly damaging |
Het |
| Srebf2 |
C |
T |
15: 82,062,966 (GRCm39) |
R468C |
probably damaging |
Het |
| Stard6 |
T |
A |
18: 70,633,597 (GRCm39) |
D201E |
possibly damaging |
Het |
| Tas2r114 |
T |
C |
6: 131,666,102 (GRCm39) |
T309A |
probably damaging |
Het |
| Tdrd6 |
C |
A |
17: 43,940,710 (GRCm39) |
A113S |
probably damaging |
Het |
| Tigd2 |
T |
G |
6: 59,187,494 (GRCm39) |
N120K |
probably damaging |
Het |
| Tomm70a |
A |
G |
16: 56,957,097 (GRCm39) |
N224S |
probably damaging |
Het |
| Tspo |
T |
C |
15: 83,455,640 (GRCm39) |
V9A |
probably benign |
Het |
| Vmn1r21 |
T |
A |
6: 57,821,199 (GRCm39) |
I82L |
probably benign |
Het |
| Vmn2r103 |
T |
A |
17: 20,019,511 (GRCm39) |
C532S |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,879,271 (GRCm39) |
N343S |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,951,785 (GRCm39) |
K665E |
probably damaging |
Het |
| Xpc |
T |
A |
6: 91,469,287 (GRCm39) |
N820I |
probably damaging |
Het |
| Zfp418 |
A |
G |
7: 7,184,873 (GRCm39) |
T279A |
probably benign |
Het |
|
| Other mutations in Cpne3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01131:Cpne3
|
APN |
4 |
19,543,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01325:Cpne3
|
APN |
4 |
19,535,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01467:Cpne3
|
APN |
4 |
19,553,737 (GRCm39) |
missense |
probably benign |
|
|
IGL02043:Cpne3
|
APN |
4 |
19,543,340 (GRCm39) |
splice site |
probably null |
|
|
IGL02992:Cpne3
|
APN |
4 |
19,532,486 (GRCm39) |
missense |
probably benign |
|
|
IGL03330:Cpne3
|
APN |
4 |
19,553,774 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
LCD18:Cpne3
|
UTSW |
4 |
19,563,382 (GRCm39) |
intron |
probably benign |
|
|
R0507:Cpne3
|
UTSW |
4 |
19,532,544 (GRCm39) |
splice site |
probably benign |
|
|
R0652:Cpne3
|
UTSW |
4 |
19,532,486 (GRCm39) |
missense |
probably benign |
|
|
R1499:Cpne3
|
UTSW |
4 |
19,526,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Cpne3
|
UTSW |
4 |
19,535,266 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2007:Cpne3
|
UTSW |
4 |
19,553,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2147:Cpne3
|
UTSW |
4 |
19,536,562 (GRCm39) |
missense |
probably benign |
|
|
R2507:Cpne3
|
UTSW |
4 |
19,553,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4525:Cpne3
|
UTSW |
4 |
19,523,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:Cpne3
|
UTSW |
4 |
19,540,827 (GRCm39) |
missense |
probably benign |
|
|
R5219:Cpne3
|
UTSW |
4 |
19,526,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5518:Cpne3
|
UTSW |
4 |
19,553,779 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5883:Cpne3
|
UTSW |
4 |
19,552,314 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6850:Cpne3
|
UTSW |
4 |
19,535,231 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6979:Cpne3
|
UTSW |
4 |
19,533,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7395:Cpne3
|
UTSW |
4 |
19,528,239 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7948:Cpne3
|
UTSW |
4 |
19,528,186 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8056:Cpne3
|
UTSW |
4 |
19,532,426 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8099:Cpne3
|
UTSW |
4 |
19,525,169 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8431:Cpne3
|
UTSW |
4 |
19,526,316 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8432:Cpne3
|
UTSW |
4 |
19,535,227 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9029:Cpne3
|
UTSW |
4 |
19,535,292 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9039:Cpne3
|
UTSW |
4 |
19,540,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9421:Cpne3
|
UTSW |
4 |
19,536,561 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9425:Cpne3
|
UTSW |
4 |
19,525,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9604:Cpne3
|
UTSW |
4 |
19,555,477 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGCAGTTCTAACCTGCAAG -3'
(R):5'- TTCCAGTGTTAGCATCGACATTTAG -3'
Sequencing Primer
(F):5'- GCTTTACTTACCATTGCAATAGGGG -3'
(R):5'- GCATCGACATTTAGTATAGATAGTGC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation