Incidental Mutation 'R9407:Cpne4'
ID |
711597 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne4
|
Ensembl Gene |
ENSMUSG00000032564 |
Gene Name |
copine IV |
Synonyms |
3632411M23Rik, 4933406O10Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R9407 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
104443900-104911747 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104749963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 89
(Q89R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057742]
[ENSMUST00000077190]
[ENSMUST00000098443]
[ENSMUST00000157006]
[ENSMUST00000213120]
[ENSMUST00000213452]
|
AlphaFold |
Q8BLR2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057742
AA Change: Q89R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000049663 Gene: ENSMUSG00000032564 AA Change: Q89R
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: Q89R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000076432 Gene: ENSMUSG00000032564 AA Change: Q89R
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: ENSMUST00000098443
AA Change: Q89R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000096042 Gene: ENSMUSG00000032564 AA Change: Q89R
Domain | Start | End | E-Value | Type |
C2
|
24 |
130 |
1.21e-5 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000157006
AA Change: Q89R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117155 Gene: ENSMUSG00000032564 AA Change: Q89R
Domain | Start | End | E-Value | Type |
Pfam:C2
|
28 |
104 |
1.4e-11 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213120
AA Change: Q89R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213452
AA Change: Q29R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
T |
C |
14: 64,223,629 (GRCm39) |
Y49C |
probably damaging |
Het |
Abca6 |
A |
T |
11: 110,093,210 (GRCm39) |
L1021* |
probably null |
Het |
Abcc9 |
A |
G |
6: 142,574,229 (GRCm39) |
S1003P |
possibly damaging |
Het |
Aldh4a1 |
A |
G |
4: 139,372,345 (GRCm39) |
I505V |
probably benign |
Het |
Brwd1 |
T |
C |
16: 95,803,693 (GRCm39) |
D2159G |
possibly damaging |
Het |
C1s2 |
T |
C |
6: 124,602,454 (GRCm39) |
I586V |
probably benign |
Het |
Cd300e |
C |
A |
11: 114,946,171 (GRCm39) |
D97Y |
probably damaging |
Het |
Celsr3 |
A |
G |
9: 108,723,596 (GRCm39) |
D2877G |
probably damaging |
Het |
Cep41 |
T |
C |
6: 30,655,841 (GRCm39) |
N328D |
probably benign |
Het |
Cldn15 |
G |
A |
5: 137,003,765 (GRCm39) |
V227M |
probably damaging |
Het |
Clec10a |
T |
G |
11: 70,060,155 (GRCm39) |
I98S |
probably damaging |
Het |
Cryba2 |
C |
A |
1: 74,932,037 (GRCm39) |
A4S |
probably benign |
Het |
Csmd2 |
G |
A |
4: 128,442,613 (GRCm39) |
A3222T |
|
Het |
Dapk1 |
C |
A |
13: 60,898,991 (GRCm39) |
Y820* |
probably null |
Het |
Efcab5 |
G |
A |
11: 77,022,934 (GRCm39) |
T593I |
probably damaging |
Het |
Entrep3 |
C |
A |
3: 89,094,645 (GRCm39) |
A416D |
possibly damaging |
Het |
Gar1 |
A |
G |
3: 129,620,608 (GRCm39) |
Y160H |
probably damaging |
Het |
Gm21834 |
T |
A |
17: 58,048,863 (GRCm39) |
I118L |
probably benign |
Het |
Gtf2a1l |
G |
A |
17: 89,001,531 (GRCm39) |
G129D |
probably damaging |
Het |
Gzmb |
T |
A |
14: 56,497,712 (GRCm39) |
Y176F |
probably benign |
Het |
Helz2 |
T |
G |
2: 180,881,975 (GRCm39) |
K273Q |
probably benign |
Het |
Ifi207 |
T |
A |
1: 173,555,234 (GRCm39) |
E816V |
probably damaging |
Het |
Insr |
A |
C |
8: 3,235,106 (GRCm39) |
D694E |
probably benign |
Het |
Insyn2b |
G |
A |
11: 34,352,072 (GRCm39) |
R38Q |
probably damaging |
Het |
Ipcef1 |
A |
T |
10: 6,870,036 (GRCm39) |
C172* |
probably null |
Het |
Itgal |
T |
G |
7: 126,921,796 (GRCm39) |
|
probably null |
Het |
Laptm5 |
A |
T |
4: 130,655,990 (GRCm39) |
M103L |
|
Het |
Lypd4 |
A |
T |
7: 24,566,160 (GRCm39) |
C55S |
probably null |
Het |
Mccc1 |
A |
C |
3: 36,030,865 (GRCm39) |
H400Q |
possibly damaging |
Het |
Myl4 |
C |
T |
11: 104,474,887 (GRCm39) |
R79W |
probably damaging |
Het |
Myo18a |
A |
G |
11: 77,709,596 (GRCm39) |
T569A |
probably benign |
Het |
Or14a259 |
G |
C |
7: 86,013,194 (GRCm39) |
S117* |
probably null |
Het |
Or4c117 |
T |
A |
2: 88,955,629 (GRCm39) |
T149S |
probably benign |
Het |
Or5ak24 |
A |
G |
2: 85,261,060 (GRCm39) |
S38P |
probably damaging |
Het |
Otof |
T |
A |
5: 30,538,265 (GRCm39) |
D1153V |
probably damaging |
Het |
Pcdha12 |
A |
T |
18: 37,153,614 (GRCm39) |
D111V |
probably damaging |
Het |
Pomt2 |
G |
T |
12: 87,157,146 (GRCm39) |
F724L |
probably damaging |
Het |
Ros1 |
T |
A |
10: 51,994,491 (GRCm39) |
Y1284F |
probably damaging |
Het |
Skint6 |
T |
C |
4: 113,034,224 (GRCm39) |
K301R |
possibly damaging |
Het |
Slc30a5 |
T |
A |
13: 100,951,214 (GRCm39) |
R223* |
probably null |
Het |
Slc35a1 |
A |
T |
4: 34,675,181 (GRCm39) |
V119E |
probably damaging |
Het |
Slc6a11 |
A |
T |
6: 114,220,914 (GRCm39) |
I482F |
probably damaging |
Het |
Tektl1 |
T |
C |
10: 78,583,128 (GRCm39) |
T419A |
probably damaging |
Het |
Tgm1 |
A |
T |
14: 55,942,991 (GRCm39) |
C616* |
probably null |
Het |
Tiam2 |
T |
A |
17: 3,553,298 (GRCm39) |
I1125N |
probably damaging |
Het |
Tln2 |
T |
C |
9: 67,136,732 (GRCm39) |
D1251G |
probably damaging |
Het |
Tnfaip2 |
C |
G |
12: 111,412,161 (GRCm39) |
S187R |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,644,045 (GRCm39) |
Y4469C |
probably damaging |
Het |
Vmn1r229 |
G |
C |
17: 21,035,259 (GRCm39) |
C168S |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,335,124 (GRCm39) |
S179P |
probably damaging |
Het |
Zfp474 |
A |
C |
18: 52,771,502 (GRCm39) |
I52L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTAGCCCTAACTCTTGGGAG -3'
(R):5'- CCTAGGAAATGTTGGAAGATGC -3'
Sequencing Primer
(F):5'- CCTAACTCTTGGGAGGGTATTTATAG -3'
(R):5'- GCTGTAGTTTAAAGAAAATGACCAC -3'
|
Posted On |
2022-05-16 |