Incidental Mutation 'R8332:Cpne1'
| ID |
644416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne1
|
| Ensembl Gene |
ENSMUSG00000074643 |
| Gene Name |
copine I |
| Synonyms |
1810028N16Rik |
| MMRRC Submission |
067728-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.400)
|
| Stock # |
R8332 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155913765-155953847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155920317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 187
(T187A)
|
| 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
AA Change: T187A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643
AA Change: T187A
| 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 benign
Transcript: ENSMUST00000109607
AA Change: T187A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643
AA Change: T187A
| 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
AA Change: T187A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643
AA Change: T187A
| 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
AA Change: T163A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643
AA Change: T163A
| 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
AA Change: T187A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000121299
Gene: ENSMUSG00000074643
AA Change: T187A
| 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
AA Change: T187A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000116982
Gene: ENSMUSG00000074643
AA Change: T187A
| 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
AA Change: T163A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000115167
Gene: ENSMUSG00000074643
AA Change: T163A
| 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: 99.1%
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,815,436 (GRCm39) |
D228G |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,593,462 (GRCm39) |
R4175H |
probably damaging |
Het |
| Ahdc1 |
A |
G |
4: 132,791,282 (GRCm39) |
D841G |
possibly damaging |
Het |
| Alms1 |
G |
A |
6: 85,597,561 (GRCm39) |
V796I |
probably benign |
Het |
| Angptl8 |
A |
T |
9: 21,748,137 (GRCm39) |
|
probably null |
Het |
| Arhgap23 |
A |
T |
11: 97,381,960 (GRCm39) |
S61T |
unknown |
Het |
| Bcl9 |
C |
T |
3: 97,117,086 (GRCm39) |
G536D |
possibly damaging |
Het |
| Bscl2 |
A |
G |
19: 8,823,594 (GRCm39) |
D220G |
probably benign |
Het |
| Ccl28 |
C |
A |
13: 120,107,514 (GRCm39) |
C58* |
probably null |
Het |
| Ccr8 |
A |
T |
9: 119,923,440 (GRCm39) |
Y185F |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,087 (GRCm39) |
H408Q |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,016,037 (GRCm39) |
E351G |
probably damaging |
Het |
| Cog5 |
A |
T |
12: 31,883,222 (GRCm39) |
K384* |
probably null |
Het |
| Crat |
T |
A |
2: 30,295,084 (GRCm39) |
I444F |
possibly damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,152 (GRCm39) |
M1052L |
probably damaging |
Het |
| Cstdc1 |
A |
G |
2: 148,625,377 (GRCm39) |
K104E |
probably damaging |
Het |
| Erp44 |
A |
G |
4: 48,243,475 (GRCm39) |
|
probably null |
Het |
| Flad1 |
G |
T |
3: 89,314,828 (GRCm39) |
Q290K |
probably benign |
Het |
| Gata3os |
G |
A |
2: 9,887,650 (GRCm39) |
R17H |
unknown |
Het |
| Gli3 |
G |
T |
13: 15,888,133 (GRCm39) |
R516L |
possibly damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,048 (GRCm39) |
C182S |
unknown |
Het |
| Herc2 |
T |
C |
7: 55,796,343 (GRCm39) |
I1905T |
probably damaging |
Het |
| Ikbkb |
A |
T |
8: 23,155,641 (GRCm39) |
V617D |
possibly damaging |
Het |
| Intu |
A |
G |
3: 40,629,719 (GRCm39) |
I350V |
probably benign |
Het |
| Limd1 |
A |
G |
9: 123,308,319 (GRCm39) |
D6G |
probably damaging |
Het |
| Llgl1 |
A |
G |
11: 60,601,210 (GRCm39) |
D716G |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,407,805 (GRCm39) |
T1828I |
probably damaging |
Het |
| Or2at1 |
T |
C |
7: 99,417,334 (GRCm39) |
*322Q |
probably null |
Het |
| Or6c38 |
A |
G |
10: 128,929,174 (GRCm39) |
I223T |
possibly damaging |
Het |
| Piezo2 |
A |
T |
18: 63,145,857 (GRCm39) |
I2689N |
possibly damaging |
Het |
| Prag1 |
T |
C |
8: 36,613,457 (GRCm39) |
I1003T |
probably damaging |
Het |
| Rbm8a2 |
T |
C |
1: 175,805,967 (GRCm39) |
D170G |
unknown |
Het |
| Rnf213 |
A |
C |
11: 119,374,524 (GRCm39) |
Q5027P |
|
Het |
| Robo1 |
T |
C |
16: 72,775,466 (GRCm39) |
Y664H |
probably damaging |
Het |
| Rrn3 |
T |
A |
16: 13,616,484 (GRCm39) |
D287E |
possibly damaging |
Het |
| Slc22a16 |
G |
A |
10: 40,449,741 (GRCm39) |
R80Q |
possibly damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,327,680 (GRCm39) |
T706S |
probably benign |
Het |
| Srek1ip1 |
A |
T |
13: 104,970,757 (GRCm39) |
R69S |
possibly damaging |
Het |
| St3gal5 |
T |
A |
6: 72,119,165 (GRCm39) |
C119* |
probably null |
Het |
| T2 |
A |
G |
17: 8,609,784 (GRCm39) |
M78V |
probably null |
Het |
| Taok1 |
A |
T |
11: 77,432,545 (GRCm39) |
V756D |
possibly damaging |
Het |
| Tecta |
C |
T |
9: 42,286,310 (GRCm39) |
G782D |
probably damaging |
Het |
| Thbs2 |
G |
A |
17: 14,900,032 (GRCm39) |
P615L |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,830,721 (GRCm39) |
I217F |
possibly damaging |
Het |
| Vmn2r57 |
C |
T |
7: 41,049,677 (GRCm39) |
V691M |
probably benign |
Het |
| Xkr4 |
T |
C |
1: 3,492,122 (GRCm39) |
Y267C |
probably damaging |
Het |
| Zfp59 |
A |
G |
7: 27,552,971 (GRCm39) |
D141G |
probably benign |
Het |
| Zfp760 |
A |
G |
17: 21,942,301 (GRCm39) |
E492G |
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 |
|
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 |
|
R9095:Cpne1
|
UTSW |
2 |
155,918,210 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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'- AATGAGATCATGTGAGCCGTC -3'
(R):5'- TGGCATACAGAACCGAGGTG -3'
Sequencing Primer
(F):5'- ACTGTCATAGTCTGAGCAGC -3'
(R):5'- AGGTGACTCCTGGTGTCAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation