Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01064:Cpne6'

52643

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 essential (E-score: 0.664) question?

Stock #

IGL01064

Quality Score

Status

Chromosome

Chromosomal Location

55510445-55517431 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55512730 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 106 (F106S)

Ref Sequence

ENSEMBL: ENSMUSP00000130799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074225] [ENSMUST00000076236] [ENSMUST00000163767] [ENSMUST00000165262] [ENSMUST00000165725] [ENSMUST00000171643] [ENSMUST00000226757] [ENSMUST00000228877]

Predicted Effect

probably damaging
Transcript: ENSMUST00000074225
AA Change: F106S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: F106S

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: ENSMUST00000076236

SMART Domains

Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211

Domain	Start	End	E-Value	Type
low complexity region	138	151	N/A	INTRINSIC
internal_repeat_1	203	297	7.56e-6	PROSPERO
Blast:LRR	333	362	5e-10	BLAST
Blast:LRR	423	446	1e-5	BLAST
low complexity region	447	462	N/A	INTRINSIC
low complexity region	468	479	N/A	INTRINSIC
internal_repeat_1	496	593	7.56e-6	PROSPERO
Pfam:CARMIL_C	778	1065	5.3e-76	PFAM
low complexity region	1068	1117	N/A	INTRINSIC
low complexity region	1137	1146	N/A	INTRINSIC
low complexity region	1204	1216	N/A	INTRINSIC
low complexity region	1318	1329	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163767
AA Change: F106S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: F106S

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

possibly damaging
Transcript: ENSMUST00000165262
AA Change: F106S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: F106S

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 damaging
Transcript: ENSMUST00000165725
AA Change: F106S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130799
Gene: ENSMUSG00000022212
AA Change: F106S

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: F106S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: F106S

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

noncoding transcript
Transcript: ENSMUST00000226388

Predicted Effect

probably benign
Transcript: ENSMUST00000226757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228760

Predicted Effect

probably benign
Transcript: ENSMUST00000228877

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,483,855	T4137S	probably benign	Het
Abcb1a	T	C	5: 8,732,388	Y924H	possibly damaging	Het
Ash1l	T	G	3: 89,072,484	C2772G	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cysltr1	A	T	X: 106,578,736	I48N	probably damaging	Het
Dsg1a	A	T	18: 20,340,206	I779F	probably damaging	Het
Fpr-rs4	T	A	17: 18,022,517	L262H	probably damaging	Het
Gart	G	A	16: 91,623,007	R871C	probably damaging	Het
Get4	C	T	5: 139,252,522	R20C	probably damaging	Het
Gm13030	G	A	4: 138,873,558		probably benign	Het
Gm17654	A	T	14: 43,578,998	H49Q	unknown	Het
Gpnmb	A	G	6: 49,055,659	I506V	probably benign	Het
Ist1	T	C	8: 109,682,611	I86V	probably damaging	Het
Kcnip1	C	T	11: 33,633,192	D198N	probably damaging	Het
Kif5c	A	G	2: 49,694,816	I184V	possibly damaging	Het
Mink1	A	T	11: 70,603,481	M236L	probably benign	Het
Muc5ac	A	T	7: 141,807,473	N1507I	probably benign	Het
Nrxn2	G	T	19: 6,517,053	E1326D	probably damaging	Het
Olfr1329	A	T	4: 118,916,894	M191K	possibly damaging	Het
Olfr1469	T	C	19: 13,411,226	I219T	probably benign	Het
Olfr635	A	T	7: 103,979,792	Y200F	probably benign	Het
Patj	T	C	4: 98,496,973	S326P	possibly damaging	Het
Pdha2	T	C	3: 141,211,015	H244R	possibly damaging	Het
Pkhd1	C	T	1: 20,534,530		probably benign	Het
Ptk7	A	T	17: 46,573,566	L746*	probably null	Het
Rad54b	G	A	4: 11,604,866	G438D	probably damaging	Het
Rbm27	T	C	18: 42,319,814	V536A	possibly damaging	Het
Rundc3b	T	A	5: 8,569,553	M135L	probably damaging	Het
Sorcs2	T	C	5: 36,065,352	Y353C	probably damaging	Het
Srcap	T	C	7: 127,559,892		probably benign	Het
Sytl5	A	G	X: 9,905,595	H66R	probably benign	Het
Tlr7	T	A	X: 167,308,211	E93V	probably damaging	Het
Tmem156	A	G	5: 65,079,984	L76S	probably damaging	Het
Tmem246	C	T	4: 49,586,860	V103M	possibly damaging	Het
Tomm70a	T	C	16: 57,152,612	F571S	probably damaging	Het
Trmt10b	A	G	4: 45,314,347	Y261C	possibly damaging	Het

Other mutations in Cpne6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Cpne6	APN	14	55515249	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
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

Posted On

2013-06-21