Incidental Mutation 'R0698:Cpne4'
ID |
62915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne4
|
Ensembl Gene |
ENSMUSG00000032564 |
Gene Name |
copine IV |
Synonyms |
3632411M23Rik, 4933406O10Rik |
MMRRC Submission |
038882-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R0698 (G1)
|
Quality Score |
156 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
104443900-104911747 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104802994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 213
(S213P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076432
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057742]
[ENSMUST00000077190]
[ENSMUST00000213120]
[ENSMUST00000213452]
|
AlphaFold |
Q8BLR2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057742
AA Change: S213P
PolyPhen 2
Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049663 Gene: ENSMUSG00000032564 AA Change: S213P
Domain | Start | End | E-Value | Type |
C2
|
24 |
130 |
4.29e-6 |
SMART |
C2
|
144 |
261 |
4.22e-5 |
SMART |
low complexity region
|
269 |
279 |
N/A |
INTRINSIC |
VWA
|
305 |
507 |
2.61e-12 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000077190
AA Change: S213P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000076432 Gene: ENSMUSG00000032564 AA Change: S213P
Domain | Start | End | E-Value | Type |
C2
|
24 |
130 |
4.29e-6 |
SMART |
C2
|
144 |
275 |
1.94e1 |
SMART |
VWA
|
223 |
425 |
9.73e-12 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213120
AA Change: S213P
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213452
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
C |
T |
16: 35,110,452 (GRCm39) |
T873M |
possibly damaging |
Het |
Ap4e1 |
G |
A |
2: 126,905,283 (GRCm39) |
E985K |
probably benign |
Het |
Arhgap18 |
T |
C |
10: 26,788,625 (GRCm39) |
I579T |
probably damaging |
Het |
Arhgef11 |
G |
T |
3: 87,640,766 (GRCm39) |
A1308S |
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,250,275 (GRCm39) |
E342G |
probably damaging |
Het |
Atm |
T |
C |
9: 53,426,539 (GRCm39) |
E573G |
probably damaging |
Het |
Baz1b |
T |
C |
5: 135,227,075 (GRCm39) |
V92A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
Col6a1 |
A |
G |
10: 76,552,114 (GRCm39) |
V459A |
unknown |
Het |
Dock10 |
T |
A |
1: 80,507,895 (GRCm39) |
Q1672L |
probably damaging |
Het |
Grm8 |
C |
T |
6: 27,363,913 (GRCm39) |
C534Y |
probably damaging |
Het |
Ints7 |
A |
G |
1: 191,326,576 (GRCm39) |
M183V |
probably damaging |
Het |
Invs |
T |
G |
4: 48,396,364 (GRCm39) |
S346A |
probably benign |
Het |
Krtap9-3 |
C |
A |
11: 99,488,663 (GRCm39) |
C73F |
probably damaging |
Het |
Lrrtm4 |
T |
C |
6: 79,999,911 (GRCm39) |
L441P |
probably damaging |
Het |
Map4 |
C |
T |
9: 109,897,856 (GRCm39) |
R81* |
probably null |
Het |
Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
Necab1 |
T |
C |
4: 15,005,041 (GRCm39) |
N141S |
probably benign |
Het |
Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
Pcdhb2 |
A |
T |
18: 37,430,419 (GRCm39) |
E797D |
probably benign |
Het |
Pclo |
T |
C |
5: 14,762,530 (GRCm39) |
Y3668H |
unknown |
Het |
Peg10 |
T |
A |
6: 4,756,835 (GRCm39) |
|
probably benign |
Het |
Psd2 |
A |
G |
18: 36,145,764 (GRCm39) |
I723V |
probably benign |
Het |
Ptprn2 |
C |
T |
12: 116,685,750 (GRCm39) |
R70* |
probably null |
Het |
R3hdm1 |
A |
G |
1: 128,109,476 (GRCm39) |
Y309C |
probably damaging |
Het |
Rab13 |
C |
T |
3: 90,132,043 (GRCm39) |
T69M |
probably damaging |
Het |
Rpl32 |
T |
C |
6: 115,782,551 (GRCm39) |
N126S |
probably benign |
Het |
Sis |
C |
A |
3: 72,817,831 (GRCm39) |
A1461S |
probably damaging |
Het |
Slc2a13 |
T |
C |
15: 91,205,870 (GRCm39) |
D439G |
probably benign |
Het |
Spta1 |
T |
C |
1: 174,008,670 (GRCm39) |
L258P |
probably damaging |
Het |
Synj1 |
T |
C |
16: 90,757,503 (GRCm39) |
T882A |
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tada3 |
A |
T |
6: 113,343,968 (GRCm39) |
L227Q |
probably damaging |
Het |
Tet2 |
A |
T |
3: 133,173,145 (GRCm39) |
S1706T |
probably benign |
Het |
Ttc6 |
G |
A |
12: 57,720,002 (GRCm39) |
V858I |
probably benign |
Het |
Tut4 |
T |
A |
4: 108,412,730 (GRCm39) |
M1477K |
probably benign |
Het |
Vps13c |
C |
A |
9: 67,797,005 (GRCm39) |
A464E |
probably benign |
Het |
Zbtb17 |
T |
C |
4: 141,193,407 (GRCm39) |
|
probably null |
Het |
Zcwpw1 |
G |
A |
5: 137,815,783 (GRCm39) |
E429K |
probably benign |
Het |
|
Other mutations in Cpne4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01650:Cpne4
|
APN |
9 |
104,778,710 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01871:Cpne4
|
APN |
9 |
104,802,956 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02097:Cpne4
|
APN |
9 |
104,563,701 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02698:Cpne4
|
APN |
9 |
104,909,984 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02933:Cpne4
|
APN |
9 |
104,896,966 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0471:Cpne4
|
UTSW |
9 |
104,899,481 (GRCm39) |
splice site |
probably null |
|
R0528:Cpne4
|
UTSW |
9 |
104,563,640 (GRCm39) |
missense |
probably damaging |
0.99 |
R1025:Cpne4
|
UTSW |
9 |
104,871,057 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1054:Cpne4
|
UTSW |
9 |
104,899,600 (GRCm39) |
missense |
probably benign |
0.01 |
R1300:Cpne4
|
UTSW |
9 |
104,870,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R1422:Cpne4
|
UTSW |
9 |
104,777,484 (GRCm39) |
missense |
probably damaging |
0.98 |
R1439:Cpne4
|
UTSW |
9 |
104,866,831 (GRCm39) |
missense |
probably damaging |
0.99 |
R1634:Cpne4
|
UTSW |
9 |
104,866,778 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1777:Cpne4
|
UTSW |
9 |
104,749,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R2992:Cpne4
|
UTSW |
9 |
104,899,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R4094:Cpne4
|
UTSW |
9 |
104,563,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R4729:Cpne4
|
UTSW |
9 |
104,799,755 (GRCm39) |
missense |
probably damaging |
0.96 |
R4943:Cpne4
|
UTSW |
9 |
104,896,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R5119:Cpne4
|
UTSW |
9 |
104,778,720 (GRCm39) |
splice site |
probably null |
|
R5787:Cpne4
|
UTSW |
9 |
104,899,600 (GRCm39) |
missense |
probably benign |
0.01 |
R5839:Cpne4
|
UTSW |
9 |
104,803,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R5876:Cpne4
|
UTSW |
9 |
104,802,969 (GRCm39) |
missense |
probably damaging |
0.98 |
R7386:Cpne4
|
UTSW |
9 |
104,749,939 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7849:Cpne4
|
UTSW |
9 |
104,563,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R7887:Cpne4
|
UTSW |
9 |
104,909,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R8910:Cpne4
|
UTSW |
9 |
104,799,706 (GRCm39) |
intron |
probably benign |
|
R9267:Cpne4
|
UTSW |
9 |
104,884,833 (GRCm39) |
missense |
probably damaging |
0.97 |
R9368:Cpne4
|
UTSW |
9 |
104,563,738 (GRCm39) |
missense |
probably damaging |
0.99 |
R9407:Cpne4
|
UTSW |
9 |
104,749,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTTGCATCAAGCCACCTGTCC -3'
(R):5'- TTTCTGAAACACCCCAGTCACTGTC -3'
Sequencing Primer
(F):5'- AGCCACCTGTCCCAGATG -3'
(R):5'- TAGCTCTGGAAGAAGAAATAGCCTC -3'
|
Posted On |
2013-07-30 |