Incidental Mutation 'R2992:Cpne4'
ID |
257940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne4
|
Ensembl Gene |
ENSMUSG00000032564 |
Gene Name |
copine IV |
Synonyms |
3632411M23Rik, 4933406O10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R2992 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
104443900-104911747 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 104899564 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 416
(I416F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057742]
[ENSMUST00000077190]
[ENSMUST00000213452]
|
AlphaFold |
Q8BLR2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057742
AA Change: I416F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000049663 Gene: ENSMUSG00000032564 AA Change: I416F
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 |
unknown
Transcript: ENSMUST00000077190
AA Change: I334F
|
SMART Domains |
Protein: ENSMUSP00000076432 Gene: ENSMUSG00000032564 AA Change: I334F
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 |
unknown
Transcript: ENSMUST00000213452
AA Change: I167F
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
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: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Baat |
A |
T |
4: 49,499,675 (GRCm39) |
Y210* |
probably null |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cep295 |
T |
A |
9: 15,244,043 (GRCm39) |
K1471I |
probably damaging |
Het |
Cul7 |
C |
G |
17: 46,962,526 (GRCm39) |
D52E |
probably benign |
Het |
Isg20 |
C |
T |
7: 78,569,632 (GRCm39) |
A201V |
probably benign |
Het |
Kdm6b |
ACTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTG |
11: 69,297,133 (GRCm39) |
|
probably benign |
Het |
Mmp16 |
G |
T |
4: 18,011,657 (GRCm39) |
G191C |
probably damaging |
Het |
Or51aa5 |
C |
T |
7: 103,166,977 (GRCm39) |
V205M |
probably damaging |
Het |
Or6c2b |
C |
A |
10: 128,947,404 (GRCm39) |
E297* |
probably null |
Het |
Or9m2 |
T |
C |
2: 87,821,121 (GRCm39) |
V222A |
probably benign |
Het |
Patl2 |
T |
C |
2: 121,956,235 (GRCm39) |
S210G |
probably damaging |
Het |
Plekha6 |
T |
C |
1: 133,222,396 (GRCm39) |
I994T |
probably damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rhobtb2 |
A |
G |
14: 70,035,772 (GRCm39) |
S100P |
probably damaging |
Het |
Snx13 |
T |
C |
12: 35,155,190 (GRCm39) |
L418P |
probably damaging |
Het |
Spink5 |
A |
C |
18: 44,129,696 (GRCm39) |
E429A |
probably damaging |
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 |
R0698:Cpne4
|
UTSW |
9 |
104,802,994 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TGTCTTGAGATCCTACAAGTGG -3'
(R):5'- GTGTCCACCCTAAGCTTCAC -3'
Sequencing Primer
(F):5'- CTATCTGGAGAAAGTTAATGTGTTGC -3'
(R):5'- TCCTCCAATAAAGAGACTGTGAAG -3'
|
Posted On |
2015-01-11 |