Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01306:Cpne6'

73444

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpne6

Ensembl Gene

ENSMUSG00000022212

Gene Name

copine VI

Synonyms

neuronal copine

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.365) question?

Stock #

IGL01306

Quality Score

Status

Chromosome

Chromosomal Location

55510445-55517431 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55515249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 299 (I299F)

Ref Sequence

ENSEMBL: ENSMUSP00000128555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062232] [ENSMUST00000074225] [ENSMUST00000111404] [ENSMUST00000163767] [ENSMUST00000165262] [ENSMUST00000165725] [ENSMUST00000171643] [ENSMUST00000178694]

AlphaFold

Q9Z140

Predicted Effect

probably benign
Transcript: ENSMUST00000062232

SMART Domains

Protein: ENSMUSP00000054457
Gene: ENSMUSG00000040632

Domain	Start	End	E-Value	Type
low complexity region	41	54	N/A	INTRINSIC
Pfam:Maf_N	67	101	7.3e-18	PFAM
BRLZ	157	221	1.6e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000074225
AA Change: I299F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: I299F

Domain	Start	End	E-Value	Type
C2	21	126	6.65e-3	SMART
C2	155	258	7.51e-11	SMART
VWA	304	506	4.37e-14	SMART
low complexity region	543	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111404

SMART Domains

Protein: ENSMUSP00000107035
Gene: ENSMUSG00000040632

Domain	Start	End	E-Value	Type
low complexity region	41	54	N/A	INTRINSIC
Pfam:Maf_N	67	102	2e-15	PFAM
BRLZ	157	221	1.6e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000163767
AA Change: I299F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: I299F

Domain	Start	End	E-Value	Type
C2	21	126	6.65e-3	SMART
C2	155	258	7.51e-11	SMART
VWA	304	506	4.37e-14	SMART
low complexity region	543	557	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165262
AA Change: I299F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: I299F

Domain	Start	End	E-Value	Type
C2	21	126	6.65e-3	SMART
C2	155	258	7.51e-11	SMART
VWA	304	505	2.34e-14	SMART
low complexity region	542	556	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165725

SMART Domains

Protein: ENSMUSP00000130799
Gene: ENSMUSG00000022212

Domain	Start	End	E-Value	Type
C2	21	126	1.22e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170155

Predicted Effect

probably damaging
Transcript: ENSMUST00000171643
AA Change: I299F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: I299F

Domain	Start	End	E-Value	Type
C2	21	126	6.65e-3	SMART
C2	155	258	7.51e-11	SMART
VWA	304	506	4.37e-14	SMART
low complexity region	543	557	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178694

SMART Domains

Protein: ENSMUSP00000136445
Gene: ENSMUSG00000040632

Domain	Start	End	E-Value	Type
low complexity region	41	54	N/A	INTRINSIC
Pfam:Maf_N	67	102	2e-15	PFAM
BRLZ	157	221	1.6e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228351

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encodes a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,005,013		probably benign	Het
Abhd12b	G	A	12: 70,169,048	G88S	probably damaging	Het
Acot10	A	G	15: 20,665,965	F230S	probably benign	Het
Ago4	T	C	4: 126,515,884		probably null	Het
Akap12	G	T	10: 4,353,273	A28S	probably benign	Het
Anks1	C	A	17: 27,986,253	T262K	probably damaging	Het
Arfgap3	A	G	15: 83,313,509	Y349H	possibly damaging	Het
Camsap2	T	A	1: 136,297,790	E199D	probably benign	Het
Ccdc13	A	T	9: 121,827,363	M128K	probably benign	Het
Ccdc38	T	C	10: 93,569,935		probably null	Het
Cep95	G	A	11: 106,813,815	V499I	probably benign	Het
Cse1l	T	A	2: 166,927,508	Y278*	probably null	Het
Dip2c	A	G	13: 9,575,143	N558D	possibly damaging	Het
Edar	A	T	10: 58,628,638	C60S	probably damaging	Het
Fat2	T	C	11: 55,310,872	N459D	probably benign	Het
Fbxw8	C	T	5: 118,113,720	V243M	possibly damaging	Het
Fem1b	G	A	9: 62,797,528	A150V	possibly damaging	Het
Gal3st1	A	G	11: 3,998,405	Y204C	probably damaging	Het
Gm5422	A	T	10: 31,249,436		noncoding transcript	Het
Grin2c	T	C	11: 115,256,194	T392A	probably benign	Het
Itpk1	T	C	12: 102,606,103	E117G	probably damaging	Het
Kif12	G	T	4: 63,165,884	P627Q	probably damaging	Het
Krtap15	T	A	16: 88,829,367	F88L	probably benign	Het
Mlh1	T	C	9: 111,252,912	N248D	possibly damaging	Het
Olfr617	T	C	7: 103,584,693	Y224H	probably damaging	Het
Olfr727	A	G	14: 50,126,582	N2D	probably benign	Het
Olfr94	T	C	17: 37,196,942	N342S	probably benign	Het
Per2	T	C	1: 91,448,833	H106R	probably damaging	Het
Pfkl	T	A	10: 77,991,395	T486S	probably benign	Het
Prkdc	T	C	16: 15,667,731	V474A	possibly damaging	Het
Scamp4	C	A	10: 80,609,422	Q34K	probably damaging	Het
Serpinb3b	A	G	1: 107,154,665	Y290H	probably damaging	Het
Sft2d2	G	T	1: 165,183,995	A110E	probably benign	Het
Siglecf	T	A	7: 43,351,953	L115*	probably null	Het
Slc6a11	C	T	6: 114,134,665	T103M	probably damaging	Het
Slco1a1	T	A	6: 141,946,587	K18*	probably null	Het
Spata1	A	T	3: 146,487,399	Y112*	probably null	Het
Tbc1d32	G	A	10: 56,180,524	T440I	probably benign	Het
Vmn2r111	T	A	17: 22,568,984	E462V	probably damaging	Het
Wnt16	C	T	6: 22,297,935	R267C	probably damaging	Het
Xylt1	A	C	7: 117,548,890	S230R	probably benign	Het

Other mutations in Cpne6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Cpne6	APN	14	55512730	missense	probably damaging	1.00
IGL01548:Cpne6	APN	14	55512726	missense	probably damaging	0.99
IGL01867:Cpne6	APN	14	55513680	missense	probably benign	0.16
IGL01902:Cpne6	APN	14	55512750	missense	possibly damaging	0.80
IGL02669:Cpne6	APN	14	55513826	missense	probably benign	0.09
IGL02695:Cpne6	APN	14	55514580	missense	probably damaging	1.00
IGL03082:Cpne6	APN	14	55516303	missense	probably damaging	1.00
ANU23:Cpne6	UTSW	14	55512002	missense	probably benign	0.05
ANU23:Cpne6	UTSW	14	55515249	missense	probably damaging	1.00
R0504:Cpne6	UTSW	14	55514602	missense	probably damaging	0.99
R1472:Cpne6	UTSW	14	55514635	missense	probably benign	0.00
R1538:Cpne6	UTSW	14	55515220	missense	possibly damaging	0.92
R1898:Cpne6	UTSW	14	55517028	missense	possibly damaging	0.88
R2679:Cpne6	UTSW	14	55516329	missense	possibly damaging	0.94
R4235:Cpne6	UTSW	14	55513600	intron	probably benign
R4453:Cpne6	UTSW	14	55512597	missense	probably damaging	1.00
R4471:Cpne6	UTSW	14	55516632	missense	probably damaging	1.00
R4823:Cpne6	UTSW	14	55517010	missense	probably damaging	1.00
R5171:Cpne6	UTSW	14	55512148	missense	possibly damaging	0.71
R5243:Cpne6	UTSW	14	55512747	missense	probably damaging	1.00
R5999:Cpne6	UTSW	14	55513059	missense	probably benign
R6111:Cpne6	UTSW	14	55514634	missense	probably benign	0.18
R6475:Cpne6	UTSW	14	55513653	missense	probably damaging	1.00
R6535:Cpne6	UTSW	14	55513665	missense	probably benign	0.30
R6787:Cpne6	UTSW	14	55515244	missense	probably damaging	1.00
R7318:Cpne6	UTSW	14	55514294	missense	possibly damaging	0.95
R7453:Cpne6	UTSW	14	55512016	missense	probably benign	0.08
R7707:Cpne6	UTSW	14	55516314	missense	probably damaging	1.00
R7934:Cpne6	UTSW	14	55512609	missense	possibly damaging	0.74
R7935:Cpne6	UTSW	14	55512609	missense	possibly damaging	0.74
R7998:Cpne6	UTSW	14	55516294	missense	probably damaging	0.98
R8083:Cpne6	UTSW	14	55513241	missense	probably benign	0.42
R8141:Cpne6	UTSW	14	55512609	missense	possibly damaging	0.74
R8144:Cpne6	UTSW	14	55512609	missense	possibly damaging	0.74
R8145:Cpne6	UTSW	14	55514568	missense	probably benign	0.10
R8190:Cpne6	UTSW	14	55512028	missense	probably benign	0.03
R8919:Cpne6	UTSW	14	55512647	missense	probably benign	0.00
R8966:Cpne6	UTSW	14	55512603	missense	probably damaging	0.99
R8983:Cpne6	UTSW	14	55516254	missense	probably damaging	1.00
R9426:Cpne6	UTSW	14	55513719	critical splice donor site	probably null
R9540:Cpne6	UTSW	14	55512651	missense	probably benign	0.14
R9772:Cpne6	UTSW	14	55516660	missense	probably benign	0.14

Posted On

2013-10-07