Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02118:Cpne1'

280483

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpne1

Ensembl Gene

ENSMUSG00000074643

Gene Name

copine I

Synonyms

1810028N16Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.447) question?

Stock #

IGL02118

Quality Score

Status

Chromosome

Chromosomal Location

155913765-155953847 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 155919563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 278 (D278A)

Ref Sequence

ENSEMBL: ENSMUSP00000115167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079312] [ENSMUST00000109607] [ENSMUST00000109608] [ENSMUST00000132494] [ENSMUST00000133921] [ENSMUST00000136296] [ENSMUST00000147627] [ENSMUST00000153634] [ENSMUST00000183518] [ENSMUST00000154889] [ENSMUST00000142960] [ENSMUST00000183972] [ENSMUST00000184899] [ENSMUST00000184152] [ENSMUST00000184265]

AlphaFold

Q8C166

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079312
AA Change: D302A

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643
AA Change: D302A

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

possibly damaging
Transcript: ENSMUST00000109607
AA Change: D302A

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643
AA Change: D302A

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

possibly damaging
Transcript: ENSMUST00000109608
AA Change: D302A

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643
AA Change: D302A

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

noncoding transcript
Transcript: ENSMUST00000126513

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

possibly damaging
Transcript: ENSMUST00000136296
AA Change: D278A

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643
AA Change: D278A

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

possibly damaging
Transcript: ENSMUST00000147627
AA Change: D302A

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116982
Gene: ENSMUSG00000074643
AA Change: D302A

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

possibly damaging
Transcript: ENSMUST00000153634
AA Change: D278A

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115167
Gene: ENSMUSG00000074643
AA Change: D278A

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

unknown
Transcript: ENSMUST00000183733
AA Change: D69A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147956

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: 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: 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: 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: 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

noncoding transcript
Transcript: ENSMUST00000184933

Predicted Effect

probably benign
Transcript: ENSMUST00000183972

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

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

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,758,865 (GRCm39)	Y359H	possibly damaging	Het
Actn2	A	G	13: 12,291,433 (GRCm39)		probably benign	Het
Actr8	T	C	14: 29,704,728 (GRCm39)		probably null	Het
Aldh16a1	G	A	7: 44,795,459 (GRCm39)	P400L	probably damaging	Het
Aldob	T	A	4: 49,538,790 (GRCm39)	K243*	probably null	Het
Arfgap1	T	C	2: 180,622,237 (GRCm39)	F274S	possibly damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cask	T	C	X: 13,425,634 (GRCm39)	I471V	probably damaging	Het
Cdc42ep4	C	T	11: 113,619,942 (GRCm39)	G150S	probably benign	Het
Gcn1	A	G	5: 115,748,938 (GRCm39)	E1856G	probably damaging	Het
Gm8362	A	T	14: 18,149,595 (GRCm39)	V159E	probably damaging	Het
Golga5	A	G	12: 102,462,011 (GRCm39)	I700V	possibly damaging	Het
Ifi206	T	C	1: 173,309,334 (GRCm39)	T221A	probably benign	Het
Ighv2-6-8	T	C	12: 113,760,037 (GRCm39)	K24R	possibly damaging	Het
Morc1	T	C	16: 48,407,467 (GRCm39)	L661P	probably benign	Het
Per2	G	A	1: 91,352,031 (GRCm39)	T825I	probably damaging	Het
Plscr1l1	A	T	9: 92,233,011 (GRCm39)	K45*	probably null	Het
Pramel20	A	T	4: 143,297,726 (GRCm39)	T49S	probably benign	Het
Prkar2b	A	G	12: 32,025,963 (GRCm39)	V19A	probably damaging	Het
Psmb8	T	A	17: 34,420,198 (GRCm39)	D263E	probably damaging	Het
Pum2	T	C	12: 8,779,117 (GRCm39)	I563T	probably benign	Het
Retreg1	T	G	15: 25,966,709 (GRCm39)		probably null	Het
Rfx7	A	G	9: 72,524,486 (GRCm39)	T559A	probably benign	Het
Rnf31	T	G	14: 55,836,569 (GRCm39)	I801S	probably damaging	Het
Rom1	G	T	19: 8,906,386 (GRCm39)	T51N	possibly damaging	Het
Sema6b	G	T	17: 56,439,821 (GRCm39)	P7T	probably benign	Het
Stpg1	A	G	4: 135,235,375 (GRCm39)		probably benign	Het
Sugct	A	T	13: 17,627,105 (GRCm39)	Y249*	probably null	Het
Tbc1d21	C	T	9: 58,267,746 (GRCm39)	V317M	probably benign	Het
Tcea2	A	G	2: 181,327,628 (GRCm39)	I125V	probably benign	Het
Ttc39b	T	A	4: 83,216,186 (GRCm39)	D19V	probably damaging	Het
Tti2	T	A	8: 31,645,537 (GRCm39)		probably null	Het
Usp32	A	T	11: 84,923,003 (GRCm39)	Y142*	probably null	Het
Vill	A	G	9: 118,889,466 (GRCm39)	Y134C	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Zfp398	A	G	6: 47,835,879 (GRCm39)	D14G	probably damaging	Het
Zfp598	T	C	17: 24,896,591 (GRCm39)	Y223H	probably damaging	Het
Znhit6	G	T	3: 145,283,859 (GRCm39)	C43F	probably damaging	Het

Other mutations in Cpne1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16