Incidental Mutation 'R9604:Cpne3'
| ID |
723819 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne3
|
| Ensembl Gene |
ENSMUSG00000028228 |
| Gene Name |
copine III |
| Synonyms |
5430428M23Rik, CPN3, PRO1071, 5730450C07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R9604 (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 G
at 19555477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 6
(V6A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029885]
|
| AlphaFold |
Q8BT60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029885
AA Change: V6A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228
AA Change: V6A
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
G |
16: 56,597,570 (GRCm39) |
F79S |
probably damaging |
Het |
| Ankrd60 |
A |
T |
2: 173,412,987 (GRCm39) |
I167N |
probably benign |
Het |
| Atp13a3 |
G |
T |
16: 30,168,506 (GRCm39) |
D494E |
probably damaging |
Het |
| Cep83 |
A |
C |
10: 94,554,939 (GRCm39) |
H35P |
possibly damaging |
Het |
| Dnm3 |
G |
A |
1: 161,838,584 (GRCm39) |
A259V |
possibly damaging |
Het |
| Eftud2 |
T |
C |
11: 102,737,056 (GRCm39) |
I575V |
probably benign |
Het |
| Eif4g1 |
A |
G |
16: 20,500,255 (GRCm39) |
N676S |
possibly damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Gal3st4 |
T |
A |
5: 138,264,011 (GRCm39) |
K329N |
probably benign |
Het |
| Gm15446 |
T |
C |
5: 110,088,314 (GRCm39) |
V9A |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,815,435 (GRCm39) |
|
probably null |
Het |
| Harbi1 |
T |
C |
2: 91,542,689 (GRCm39) |
V50A |
probably damaging |
Het |
| Hcn2 |
T |
C |
10: 79,564,787 (GRCm39) |
C400R |
probably damaging |
Het |
| Heatr6 |
T |
C |
11: 83,668,188 (GRCm39) |
M894T |
probably damaging |
Het |
| Hid1 |
A |
T |
11: 115,243,466 (GRCm39) |
H527Q |
|
Het |
| Ifitm1 |
C |
T |
7: 140,548,227 (GRCm39) |
A20V |
probably benign |
Het |
| Klk1b11 |
T |
A |
7: 43,427,850 (GRCm39) |
L213Q |
|
Het |
| Lepr |
A |
G |
4: 101,590,473 (GRCm39) |
Y17C |
probably benign |
Het |
| N4bp3 |
A |
T |
11: 51,536,493 (GRCm39) |
V113E |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,182,680 (GRCm39) |
R1062K |
probably benign |
Het |
| Nlrp4b |
T |
A |
7: 10,444,295 (GRCm39) |
N81K |
probably benign |
Het |
| Nol6 |
A |
G |
4: 41,120,298 (GRCm39) |
I473T |
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,381,807 (GRCm39) |
S344T |
probably benign |
Het |
| Pals2 |
C |
A |
6: 50,173,597 (GRCm39) |
A487E |
probably benign |
Het |
| Pde12 |
A |
G |
14: 26,390,008 (GRCm39) |
Y234H |
possibly damaging |
Het |
| Pla2g4e |
C |
T |
2: 120,015,680 (GRCm39) |
C288Y |
probably benign |
Het |
| Plekhd1 |
A |
G |
12: 80,739,731 (GRCm39) |
T27A |
probably damaging |
Het |
| Pls1 |
T |
A |
9: 95,644,057 (GRCm39) |
I480F |
probably damaging |
Het |
| Prom1 |
A |
G |
5: 44,187,075 (GRCm39) |
I394T |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 51,994,249 (GRCm39) |
C1365S |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 92,031,433 (GRCm39) |
T148M |
possibly damaging |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Tap1 |
A |
C |
17: 34,412,172 (GRCm39) |
D459A |
probably damaging |
Het |
| Tas2r125 |
T |
C |
6: 132,887,023 (GRCm39) |
I137T |
probably benign |
Het |
| Tent5a |
C |
A |
9: 85,206,677 (GRCm39) |
V374L |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,159,827 (GRCm39) |
|
probably null |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,193 (GRCm39) |
I26T |
possibly damaging |
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 |
|
|
R8002:Cpne3
|
UTSW |
4 |
19,528,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCAGCCAGGACTCTTAGCTAG -3'
(R):5'- TTTATTCCCAAGAGGCTCAAGTAG -3'
Sequencing Primer
(F):5'- AGGACTCTTAGCTAGCTCTTCAG -3'
(R):5'- GTAGCAGTCCCATTCTAGCAGAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation