Mutagenetix > Incidental Mutation

Incidental Mutation 'R7707:Cpne6'

594371

Institutional Source

Beutler Lab

Gene Symbol

Cpne6

Ensembl Gene

ENSMUSG00000022212

Gene Name

copine VI

Synonyms

neuronal copine

MMRRC Submission

067893-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R7707 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55747902-55754888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 55753771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 410 (T410P)

Ref Sequence

ENSEMBL: ENSMUSP00000073847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062232] [ENSMUST00000074225] [ENSMUST00000111404] [ENSMUST00000163767] [ENSMUST00000165262] [ENSMUST00000165725] [ENSMUST00000171643] [ENSMUST00000178694] [ENSMUST00000228287]

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: T410P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: T410P

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: T410P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: T410P

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: T410P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: T410P

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

probably damaging
Transcript: ENSMUST00000171643
AA Change: T410P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: T410P

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

probably benign
Transcript: ENSMUST00000228287

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (72/73)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,285,852 (GRCm39)	M1L	probably benign	Het
Ap1s3	T	C	1: 79,591,964 (GRCm39)	K129E	probably benign	Het
Ap3b2	C	T	7: 81,126,530 (GRCm39)	V357I	possibly damaging	Het
Aplp1	A	T	7: 30,142,523 (GRCm39)	C140S	probably damaging	Het
Arhgef1	G	A	7: 24,616,306 (GRCm39)	D317N	probably damaging	Het
Asb4	A	G	6: 5,430,968 (GRCm39)	H401R	probably benign	Het
Bpi	A	T	2: 158,103,093 (GRCm39)	E79D	probably benign	Het
Cant1	C	T	11: 118,301,724 (GRCm39)	V198M	possibly damaging	Het
Casp9	C	T	4: 141,532,778 (GRCm39)	R225C	probably benign	Het
Ccdc88b	C	A	19: 6,834,837 (GRCm39)	R82L	probably benign	Het
Cfap251	A	T	5: 123,391,950 (GRCm39)	E28V	probably benign	Het
Chrm4	A	G	2: 91,757,699 (GRCm39)	T36A	probably benign	Het
Cntln	A	T	4: 84,802,853 (GRCm39)	D51V	probably damaging	Het
Commd8	A	T	5: 72,320,081 (GRCm39)	F120Y	probably damaging	Het
Ctnnb1	A	T	9: 120,781,931 (GRCm39)	I315F	possibly damaging	Het
Dnah9	A	G	11: 66,009,784 (GRCm39)	V701A	probably damaging	Het
Efcab9	A	G	11: 32,472,851 (GRCm39)	Y199H	possibly damaging	Het
Endou	T	A	15: 97,610,983 (GRCm39)		probably null	Het
Fhip1a	A	G	3: 85,583,560 (GRCm39)	V412A	probably benign	Het
Foxc2	C	T	8: 121,844,641 (GRCm39)	P430S	probably benign	Het
Gas2l3	T	A	10: 89,250,220 (GRCm39)	K299N	probably damaging	Het
Gm10375	G	A	14: 43,842,332 (GRCm39)	Q133*	probably null	Het
Gorab	T	C	1: 163,220,009 (GRCm39)	D211G	probably damaging	Het
Grin3b	T	A	10: 79,811,735 (GRCm39)	S747T	possibly damaging	Het
Gucd1	C	A	10: 75,347,120 (GRCm39)		probably benign	Het
Gucy2d	T	C	7: 98,100,876 (GRCm39)	F400L	possibly damaging	Het
Hivep3	G	A	4: 119,591,156 (GRCm39)	V55M		Het
Igsf3	A	G	3: 101,367,238 (GRCm39)	N1157S	probably benign	Het
Irak3	A	T	10: 119,982,489 (GRCm39)	D324E	probably damaging	Het
Jup	G	T	11: 100,273,878 (GRCm39)	A221D	possibly damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,321,113 (GRCm39)		probably benign	Het
Lgr4	A	G	2: 109,827,936 (GRCm39)		probably null	Het
Lrrc34	T	C	3: 30,679,041 (GRCm39)	D352G	probably benign	Het
Metrn	C	A	17: 26,014,384 (GRCm39)	A175S	probably benign	Het
Nr2c1	T	A	10: 94,024,027 (GRCm39)	S411T	probably benign	Het
Or4c11	A	G	2: 88,695,153 (GRCm39)	D68G	possibly damaging	Het
Or5h22	T	A	16: 58,894,634 (GRCm39)	I270F	possibly damaging	Het
Orc3	T	A	4: 34,598,691 (GRCm39)	K172*	probably null	Het
Oxnad1	A	G	14: 31,823,965 (GRCm39)		probably null	Het
Pcdh7	A	G	5: 57,877,672 (GRCm39)	N409S	probably damaging	Het
Pcdha11	A	T	18: 37,144,845 (GRCm39)	N312I	probably benign	Het
Pds5a	G	T	5: 65,767,476 (GRCm39)	P121Q	unknown	Het
Phc1	A	G	6: 122,300,739 (GRCm39)	I380T	unknown	Het
Phldb3	C	A	7: 24,326,022 (GRCm39)	H535N	possibly damaging	Het
Proser3	T	C	7: 30,239,216 (GRCm39)	Q600R	probably benign	Het
Ptprz1	A	G	6: 23,002,295 (GRCm39)	M1462V	probably benign	Het
Pyroxd2	T	C	19: 42,726,586 (GRCm39)	T243A	probably damaging	Het
Ralgapa1	C	A	12: 55,824,077 (GRCm39)	D268Y	probably null	Het
Rapgef5	A	C	12: 117,679,079 (GRCm39)	Y419S	probably damaging	Het
Rbm24	C	A	13: 46,582,605 (GRCm39)	Q175K	possibly damaging	Het
Robo4	A	T	9: 37,324,418 (GRCm39)	D982V	probably damaging	Het
Sbf2	T	C	7: 109,929,920 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,604,043 (GRCm39)		probably null	Het
Shank1	C	T	7: 43,993,725 (GRCm39)	S798F	unknown	Het
Slc15a5	A	T	6: 138,056,745 (GRCm39)	M57K	probably damaging	Het
Slc35g1	T	A	19: 38,391,571 (GRCm39)	C284*	probably null	Het
Src	G	A	2: 157,306,578 (GRCm39)	D194N	probably damaging	Het
Srfbp1	A	G	18: 52,616,726 (GRCm39)	T84A	probably damaging	Het
Sspo	A	T	6: 48,438,461 (GRCm39)	T1510S	probably benign	Het
Taar1	A	T	10: 23,797,135 (GRCm39)	I278F	possibly damaging	Het
Taf1a	T	C	1: 183,185,583 (GRCm39)	Y281H	possibly damaging	Het
Thbs3	A	T	3: 89,132,207 (GRCm39)	Y798F	possibly damaging	Het
Tnpo1	T	C	13: 99,027,295 (GRCm39)	T7A	probably benign	Het
Traf7	A	T	17: 24,729,683 (GRCm39)		probably null	Het
Trbv19	G	A	6: 41,155,547 (GRCm39)	V9I	possibly damaging	Het
Trim17	C	T	11: 58,856,110 (GRCm39)	Q56*	probably null	Het
Ttn	G	T	2: 76,732,406 (GRCm39)	A4643E	unknown	Het
Ugt2b36	A	G	5: 87,229,367 (GRCm39)		probably null	Het
Uso1	A	G	5: 92,349,795 (GRCm39)	*960W	probably null	Het
Usp2	G	T	9: 43,984,757 (GRCm39)		probably null	Het
Wdr20rt	A	G	12: 65,272,981 (GRCm39)	D148G	probably damaging	Het
Wif1	T	C	10: 120,919,864 (GRCm39)	F204L	probably damaging	Het
Wwp1	T	C	4: 19,627,645 (GRCm39)	D750G	probably benign	Het
Zfp1006	A	T	8: 129,945,660 (GRCm39)	C388*	probably null	Het
Zmynd12	A	T	4: 119,302,063 (GRCm39)	D234V	probably damaging	Het

Other mutations in Cpne6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Cpne6	APN	14	55,750,187 (GRCm39)	missense	probably damaging	1.00
IGL01306:Cpne6	APN	14	55,752,706 (GRCm39)	missense	probably damaging	1.00
IGL01548:Cpne6	APN	14	55,750,183 (GRCm39)	missense	probably damaging	0.99
IGL01867:Cpne6	APN	14	55,751,137 (GRCm39)	missense	probably benign	0.16
IGL01902:Cpne6	APN	14	55,750,207 (GRCm39)	missense	possibly damaging	0.80
IGL02669:Cpne6	APN	14	55,751,283 (GRCm39)	missense	probably benign	0.09
IGL02695:Cpne6	APN	14	55,752,037 (GRCm39)	missense	probably damaging	1.00
IGL03082:Cpne6	APN	14	55,753,760 (GRCm39)	missense	probably damaging	1.00
ANU23:Cpne6	UTSW	14	55,752,706 (GRCm39)	missense	probably damaging	1.00
ANU23:Cpne6	UTSW	14	55,749,459 (GRCm39)	missense	probably benign	0.05
R0504:Cpne6	UTSW	14	55,752,059 (GRCm39)	missense	probably damaging	0.99
R1472:Cpne6	UTSW	14	55,752,092 (GRCm39)	missense	probably benign	0.00
R1538:Cpne6	UTSW	14	55,752,677 (GRCm39)	missense	possibly damaging	0.92
R1898:Cpne6	UTSW	14	55,754,485 (GRCm39)	missense	possibly damaging	0.88
R2679:Cpne6	UTSW	14	55,753,786 (GRCm39)	missense	possibly damaging	0.94
R4235:Cpne6	UTSW	14	55,751,057 (GRCm39)	intron	probably benign
R4453:Cpne6	UTSW	14	55,750,054 (GRCm39)	missense	probably damaging	1.00
R4471:Cpne6	UTSW	14	55,754,089 (GRCm39)	missense	probably damaging	1.00
R4823:Cpne6	UTSW	14	55,754,467 (GRCm39)	missense	probably damaging	1.00
R5171:Cpne6	UTSW	14	55,749,605 (GRCm39)	missense	possibly damaging	0.71
R5243:Cpne6	UTSW	14	55,750,204 (GRCm39)	missense	probably damaging	1.00
R5999:Cpne6	UTSW	14	55,750,516 (GRCm39)	missense	probably benign
R6111:Cpne6	UTSW	14	55,752,091 (GRCm39)	missense	probably benign	0.18
R6475:Cpne6	UTSW	14	55,751,110 (GRCm39)	missense	probably damaging	1.00
R6535:Cpne6	UTSW	14	55,751,122 (GRCm39)	missense	probably benign	0.30
R6787:Cpne6	UTSW	14	55,752,701 (GRCm39)	missense	probably damaging	1.00
R7318:Cpne6	UTSW	14	55,751,751 (GRCm39)	missense	possibly damaging	0.95
R7453:Cpne6	UTSW	14	55,749,473 (GRCm39)	missense	probably benign	0.08
R7934:Cpne6	UTSW	14	55,750,066 (GRCm39)	missense	possibly damaging	0.74
R7935:Cpne6	UTSW	14	55,750,066 (GRCm39)	missense	possibly damaging	0.74
R7998:Cpne6	UTSW	14	55,753,751 (GRCm39)	missense	probably damaging	0.98
R8083:Cpne6	UTSW	14	55,750,698 (GRCm39)	missense	probably benign	0.42
R8141:Cpne6	UTSW	14	55,750,066 (GRCm39)	missense	possibly damaging	0.74
R8144:Cpne6	UTSW	14	55,750,066 (GRCm39)	missense	possibly damaging	0.74
R8145:Cpne6	UTSW	14	55,752,025 (GRCm39)	missense	probably benign	0.10
R8190:Cpne6	UTSW	14	55,749,485 (GRCm39)	missense	probably benign	0.03
R8919:Cpne6	UTSW	14	55,750,104 (GRCm39)	missense	probably benign	0.00
R8966:Cpne6	UTSW	14	55,750,060 (GRCm39)	missense	probably damaging	0.99
R8983:Cpne6	UTSW	14	55,753,711 (GRCm39)	missense	probably damaging	1.00
R9426:Cpne6	UTSW	14	55,751,176 (GRCm39)	critical splice donor site	probably null
R9540:Cpne6	UTSW	14	55,750,108 (GRCm39)	missense	probably benign	0.14
R9772:Cpne6	UTSW	14	55,754,117 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- AAGAGTTCCAGCCCTGTGAC -3'
(R):5'- TTTCTGTATGAAAGGGCATTGATGC -3'

Sequencing Primer
(F):5'- AGGGACCATCTGACTCTCTC -3'
(R):5'- GATGCTCTTTCCAAACCCGGG -3'

Posted On

2019-11-12