Incidental Mutation 'R9095:Cpne1'
ID |
691261 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne1
|
Ensembl Gene |
ENSMUSG00000074643 |
Gene Name |
copine I |
Synonyms |
1810028N16Rik |
MMRRC Submission |
068910-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.400)
|
Stock # |
R9095 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
155913765-155953847 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 155918210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105236
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079312]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000132494]
[ENSMUST00000133921]
[ENSMUST00000136296]
[ENSMUST00000142960]
[ENSMUST00000147627]
[ENSMUST00000153634]
[ENSMUST00000154889]
[ENSMUST00000183518]
[ENSMUST00000183972]
[ENSMUST00000184152]
[ENSMUST00000184265]
[ENSMUST00000184899]
|
AlphaFold |
Q8C166 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079312
|
SMART Domains |
Protein: ENSMUSP00000078292 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
468 |
8.96e-2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000109607
|
SMART Domains |
Protein: ENSMUSP00000105236 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109608
|
SMART Domains |
Protein: ENSMUSP00000105237 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127956
|
SMART Domains |
Protein: ENSMUSP00000114923 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
28 |
N/A |
INTRINSIC |
low complexity region
|
73 |
172 |
N/A |
INTRINSIC |
RRM
|
217 |
287 |
1.05e-1 |
SMART |
RRM
|
343 |
415 |
2.73e-7 |
SMART |
RRM
|
457 |
529 |
8.73e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132494
|
SMART Domains |
Protein: ENSMUSP00000139175 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Pfam:RRM_6
|
5 |
70 |
1.5e-5 |
PFAM |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
RRM
|
305 |
375 |
1.05e-1 |
SMART |
RRM
|
431 |
503 |
2.73e-7 |
SMART |
RRM
|
545 |
617 |
8.73e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133921
|
SMART Domains |
Protein: ENSMUSP00000122644 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
Pfam:C2
|
139 |
178 |
3.3e-3 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136296
|
SMART Domains |
Protein: ENSMUSP00000122994 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
123 |
218 |
7.88e-5 |
SMART |
Pfam:Copine
|
279 |
378 |
2.3e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140109
|
SMART Domains |
Protein: ENSMUSP00000121998 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
Pfam:Copine
|
1 |
148 |
2.1e-50 |
PFAM |
Pfam:vWA-TerF-like
|
5 |
111 |
2.5e-7 |
PFAM |
low complexity region
|
167 |
185 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142960
|
SMART Domains |
Protein: ENSMUSP00000121299 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
2.4e-11 |
SMART |
C2
|
123 |
206 |
3e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147627
|
SMART Domains |
Protein: ENSMUSP00000116982 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
Pfam:Copine
|
303 |
350 |
1.3e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153634
|
SMART Domains |
Protein: ENSMUSP00000115167 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
123 |
218 |
7.88e-5 |
SMART |
Pfam:Copine
|
279 |
325 |
4.1e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154889
|
SMART Domains |
Protein: ENSMUSP00000118140 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159952
|
SMART Domains |
Protein: ENSMUSP00000124101 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
SCOP:d1eg5a_
|
3 |
82 |
2e-15 |
SMART |
PDB:1P3W|A
|
3 |
86 |
3e-34 |
PDB |
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
Blast:RRM_2
|
124 |
160 |
2e-14 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160165
|
SMART Domains |
Protein: ENSMUSP00000124858 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
PDB:1P3W|A
|
3 |
28 |
1e-6 |
PDB |
low complexity region
|
36 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162612
|
SMART Domains |
Protein: ENSMUSP00000125190 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
SCOP:d1eg5a_
|
3 |
82 |
1e-15 |
SMART |
PDB:1P3W|A
|
3 |
86 |
2e-34 |
PDB |
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
Blast:RRM_2
|
124 |
161 |
1e-14 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183518
|
SMART Domains |
Protein: ENSMUSP00000139010 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Blast:RRM_2
|
4 |
40 |
4e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183733
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183972
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184152
|
SMART Domains |
Protein: ENSMUSP00000139035 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184265
|
SMART Domains |
Protein: ENSMUSP00000138888 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184899
|
SMART Domains |
Protein: ENSMUSP00000139177 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Blast:RRM_2
|
4 |
54 |
2e-25 |
BLAST |
SCOP:d2u1a__
|
9 |
68 |
6e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (75/75) |
MGI Phenotype |
FUNCTION: This gene encodes a protein that contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Its activity is also upregulated in mouse embryos. This gene and the gene for RNA binding motif protein 12 overlap at map location 2 H2. Two alternatively spliced variants that encode the same isoform have been identified for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
C |
T |
17: 24,500,370 (GRCm39) |
V1274M |
probably damaging |
Het |
Abca4 |
A |
G |
3: 121,967,556 (GRCm39) |
H2202R |
possibly damaging |
Het |
Ablim3 |
A |
G |
18: 61,953,463 (GRCm39) |
L350P |
probably benign |
Het |
Adamts17 |
C |
T |
7: 66,654,117 (GRCm39) |
T449I |
probably damaging |
Het |
Ankrd39 |
T |
A |
1: 36,586,241 (GRCm39) |
D9V |
probably benign |
Het |
Arhgef7 |
T |
C |
8: 11,835,819 (GRCm39) |
V192A |
probably damaging |
Het |
Art4 |
C |
T |
6: 136,834,269 (GRCm39) |
|
probably benign |
Het |
Atg4a-ps |
A |
T |
3: 103,553,254 (GRCm39) |
V29E |
possibly damaging |
Het |
Ccdc180 |
A |
T |
4: 45,949,466 (GRCm39) |
K1574* |
probably null |
Het |
Cfap54 |
T |
G |
10: 92,846,882 (GRCm39) |
T1028P |
probably damaging |
Het |
Clip2 |
C |
T |
5: 134,532,254 (GRCm39) |
R517H |
possibly damaging |
Het |
Col5a1 |
A |
G |
2: 27,914,665 (GRCm39) |
T94A |
probably benign |
Het |
Csnk2a1-ps3 |
A |
T |
1: 156,352,213 (GRCm39) |
Y138F |
probably benign |
Het |
Cyp2f2 |
T |
A |
7: 26,830,667 (GRCm39) |
M346K |
possibly damaging |
Het |
D130040H23Rik |
AAGAATATATTCTACAGAATATA |
AAGAATATA |
8: 69,755,748 (GRCm39) |
|
probably null |
Het |
Ddi2 |
T |
A |
4: 141,419,590 (GRCm39) |
I387F |
probably benign |
Het |
Dsg1b |
A |
G |
18: 20,523,282 (GRCm39) |
N103S |
probably damaging |
Het |
Duxf3 |
GCCC |
GCC |
10: 58,066,944 (GRCm39) |
|
probably null |
Het |
Dysf |
A |
G |
6: 84,156,666 (GRCm39) |
I1464V |
probably benign |
Het |
Epha2 |
A |
G |
4: 141,044,012 (GRCm39) |
Y314C |
possibly damaging |
Het |
Etl4 |
A |
G |
2: 20,782,964 (GRCm39) |
E675G |
probably damaging |
Het |
Fam114a1 |
A |
C |
5: 65,188,733 (GRCm39) |
I488L |
probably benign |
Het |
Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
Fn1 |
A |
C |
1: 71,647,149 (GRCm39) |
I1547S |
probably null |
Het |
Garre1 |
A |
T |
7: 33,956,770 (GRCm39) |
|
probably null |
Het |
Get1 |
T |
A |
16: 95,954,244 (GRCm39) |
|
probably benign |
Het |
Gm14305 |
T |
A |
2: 176,413,045 (GRCm39) |
Y312* |
probably null |
Het |
Golm2 |
T |
A |
2: 121,756,096 (GRCm39) |
L375Q |
probably damaging |
Het |
Gpihbp1 |
A |
G |
15: 75,469,641 (GRCm39) |
T119A |
possibly damaging |
Het |
Harbi1 |
T |
G |
2: 91,542,980 (GRCm39) |
V147G |
probably damaging |
Het |
Ifit1bl1 |
T |
C |
19: 34,571,899 (GRCm39) |
Y186C |
probably damaging |
Het |
Ighv13-2 |
C |
A |
12: 114,321,494 (GRCm39) |
A82S |
probably benign |
Het |
Itpr1 |
T |
A |
6: 108,364,352 (GRCm39) |
D827E |
probably benign |
Het |
Krtap4-2 |
C |
T |
11: 99,525,801 (GRCm39) |
G17D |
unknown |
Het |
Ly6a |
A |
T |
15: 74,867,333 (GRCm39) |
|
probably benign |
Het |
Mad1l1 |
C |
T |
5: 140,288,741 (GRCm39) |
E203K |
probably damaging |
Het |
Mapk14 |
C |
A |
17: 28,934,413 (GRCm39) |
D101E |
probably benign |
Het |
Meis3 |
G |
T |
7: 15,917,764 (GRCm39) |
G306W |
probably damaging |
Het |
Mixl1 |
T |
C |
1: 180,524,402 (GRCm39) |
D59G |
probably benign |
Het |
Nav2 |
G |
A |
7: 49,254,293 (GRCm39) |
V2364M |
probably damaging |
Het |
Nell1 |
T |
C |
7: 50,506,150 (GRCm39) |
S786P |
possibly damaging |
Het |
Or13a25 |
T |
G |
7: 140,247,813 (GRCm39) |
N197K |
probably damaging |
Het |
Or51e2 |
C |
A |
7: 102,391,473 (GRCm39) |
V246L |
possibly damaging |
Het |
Or51g1 |
A |
G |
7: 102,633,687 (GRCm39) |
L228P |
probably damaging |
Het |
Or5b107 |
T |
G |
19: 13,143,310 (GRCm39) |
S311A |
probably benign |
Het |
Pcdhgb8 |
A |
T |
18: 37,896,052 (GRCm39) |
D374V |
probably damaging |
Het |
Phactr2 |
A |
G |
10: 13,129,386 (GRCm39) |
I294T |
probably benign |
Het |
Plekha4 |
C |
T |
7: 45,190,492 (GRCm39) |
A400V |
probably damaging |
Het |
Pramel21 |
T |
C |
4: 143,341,760 (GRCm39) |
F63S |
probably damaging |
Het |
Pramel4 |
C |
A |
4: 143,794,928 (GRCm39) |
D441E |
probably benign |
Het |
Prr12 |
G |
A |
7: 44,695,267 (GRCm39) |
P1400S |
unknown |
Het |
Prss3b |
T |
A |
6: 41,010,038 (GRCm39) |
N99Y |
possibly damaging |
Het |
Rbm6 |
G |
A |
9: 107,669,089 (GRCm39) |
Q608* |
probably null |
Het |
Scamp1 |
T |
A |
13: 94,369,598 (GRCm39) |
I76F |
probably benign |
Het |
Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
Sirt1 |
A |
T |
10: 63,158,077 (GRCm39) |
S446T |
probably damaging |
Het |
Slc25a54 |
A |
G |
3: 109,019,404 (GRCm39) |
K336R |
probably benign |
Het |
Spag17 |
G |
T |
3: 99,912,092 (GRCm39) |
V321F |
possibly damaging |
Het |
Sstr1 |
A |
G |
12: 58,259,620 (GRCm39) |
Y81C |
probably damaging |
Het |
St8sia4 |
T |
C |
1: 95,519,525 (GRCm39) |
K321R |
probably damaging |
Het |
Stac3 |
T |
C |
10: 127,343,584 (GRCm39) |
F242S |
probably damaging |
Het |
Tanc2 |
T |
G |
11: 105,758,104 (GRCm39) |
S622A |
probably benign |
Het |
Tcf4 |
G |
A |
18: 69,598,464 (GRCm39) |
D106N |
possibly damaging |
Het |
Tfrc |
T |
A |
16: 32,433,571 (GRCm39) |
I75N |
possibly damaging |
Het |
Tigd2 |
G |
A |
6: 59,187,509 (GRCm39) |
W125* |
probably null |
Het |
Tjp1 |
T |
C |
7: 64,952,745 (GRCm39) |
T1530A |
possibly damaging |
Het |
Tmem132a |
T |
A |
19: 10,844,412 (GRCm39) |
H62L |
probably benign |
Het |
Tmem89 |
T |
C |
9: 108,743,729 (GRCm39) |
S10P |
unknown |
Het |
Trrap |
C |
T |
5: 144,733,961 (GRCm39) |
P938L |
probably damaging |
Het |
Unc80 |
C |
A |
1: 66,545,912 (GRCm39) |
P488T |
probably damaging |
Het |
Uri1 |
C |
A |
7: 37,662,873 (GRCm39) |
G374C |
probably damaging |
Het |
Utp20 |
T |
C |
10: 88,611,180 (GRCm39) |
N1379S |
probably damaging |
Het |
Vcan |
G |
T |
13: 89,852,644 (GRCm39) |
T772K |
probably benign |
Het |
Zbtb37 |
A |
T |
1: 160,847,941 (GRCm39) |
Y355* |
probably null |
Het |
Zfp3 |
A |
G |
11: 70,662,405 (GRCm39) |
I121M |
probably benign |
Het |
Zfp629 |
A |
T |
7: 127,209,547 (GRCm39) |
L754Q |
probably damaging |
Het |
|
Other mutations in Cpne1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02118:Cpne1
|
APN |
2 |
155,919,563 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02291:Cpne1
|
APN |
2 |
155,920,340 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02719:Cpne1
|
APN |
2 |
155,920,137 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03011:Cpne1
|
APN |
2 |
155,919,917 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03347:Cpne1
|
APN |
2 |
155,921,096 (GRCm39) |
missense |
probably damaging |
1.00 |
johannesburg
|
UTSW |
2 |
155,919,561 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Cpne1
|
UTSW |
2 |
155,913,945 (GRCm39) |
frame shift |
probably null |
|
FR4449:Cpne1
|
UTSW |
2 |
155,915,422 (GRCm39) |
intron |
probably benign |
|
FR4976:Cpne1
|
UTSW |
2 |
155,913,945 (GRCm39) |
frame shift |
probably null |
|
R0496:Cpne1
|
UTSW |
2 |
155,921,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R0735:Cpne1
|
UTSW |
2 |
155,920,670 (GRCm39) |
critical splice donor site |
probably null |
|
R0792:Cpne1
|
UTSW |
2 |
155,919,339 (GRCm39) |
missense |
probably benign |
0.00 |
R1874:Cpne1
|
UTSW |
2 |
155,920,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R2015:Cpne1
|
UTSW |
2 |
155,920,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R2518:Cpne1
|
UTSW |
2 |
155,915,891 (GRCm39) |
missense |
probably damaging |
0.99 |
R3000:Cpne1
|
UTSW |
2 |
155,915,342 (GRCm39) |
makesense |
probably null |
|
R3875:Cpne1
|
UTSW |
2 |
155,918,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R5021:Cpne1
|
UTSW |
2 |
155,940,193 (GRCm39) |
intron |
probably benign |
|
R5385:Cpne1
|
UTSW |
2 |
155,916,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R5654:Cpne1
|
UTSW |
2 |
155,919,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R5959:Cpne1
|
UTSW |
2 |
155,920,143 (GRCm39) |
missense |
probably benign |
0.00 |
R6775:Cpne1
|
UTSW |
2 |
155,920,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R7049:Cpne1
|
UTSW |
2 |
155,920,727 (GRCm39) |
missense |
probably damaging |
0.97 |
R7488:Cpne1
|
UTSW |
2 |
155,919,857 (GRCm39) |
missense |
probably benign |
0.00 |
R8212:Cpne1
|
UTSW |
2 |
155,920,134 (GRCm39) |
missense |
probably damaging |
0.96 |
R8332:Cpne1
|
UTSW |
2 |
155,920,317 (GRCm39) |
missense |
probably benign |
0.00 |
R8870:Cpne1
|
UTSW |
2 |
155,920,873 (GRCm39) |
missense |
probably benign |
0.30 |
R8921:Cpne1
|
UTSW |
2 |
155,913,965 (GRCm39) |
missense |
probably benign |
0.20 |
R9094:Cpne1
|
UTSW |
2 |
155,921,080 (GRCm39) |
missense |
probably damaging |
0.99 |
R9311:Cpne1
|
UTSW |
2 |
155,919,723 (GRCm39) |
missense |
probably damaging |
0.99 |
R9380:Cpne1
|
UTSW |
2 |
155,920,721 (GRCm39) |
missense |
probably benign |
0.01 |
RF034:Cpne1
|
UTSW |
2 |
155,915,430 (GRCm39) |
intron |
probably benign |
|
RF037:Cpne1
|
UTSW |
2 |
155,915,430 (GRCm39) |
intron |
probably benign |
|
RF043:Cpne1
|
UTSW |
2 |
155,915,430 (GRCm39) |
intron |
probably benign |
|
Z1176:Cpne1
|
UTSW |
2 |
155,919,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCCCAGGAGATTTTAGCTTT -3'
(R):5'- GGGTAGATGTAGGAAGGATCTCAT -3'
Sequencing Primer
(F):5'- GCCCAGGAGATTTTAGCTTTATTTTG -3'
(R):5'- GGTATGCAGTGATCCTAATGCCC -3'
|
Posted On |
2021-12-30 |