Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01548:Cpne6'

93207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpne6

Ensembl Gene

ENSMUSG00000022212

Gene Name

copine VI

Synonyms

neuronal copine

Accession Numbers

Essential gene?

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

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

55747902-55754888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55750183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 105 (T105S)

Ref Sequence

ENSEMBL: ENSMUSP00000130799 (fasta)

Gene Model

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

AlphaFold

Q9Z140

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074225
AA Change: T105S

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: T105S

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

possibly damaging
Transcript: ENSMUST00000163767
AA Change: T105S

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: T105S

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: T105S

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: T105S

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: T105S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130799
Gene: ENSMUSG00000022212
AA Change: T105S

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

possibly damaging
Transcript: ENSMUST00000171643
AA Change: T105S

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: T105S

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: ENSMUST00000227312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227563

Predicted Effect

probably benign
Transcript: ENSMUST00000226757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226388

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot3	C	T	12: 84,103,863 (GRCm39)	T224I	probably benign	Het
Adamts18	C	T	8: 114,490,931 (GRCm39)	G512E	probably damaging	Het
Atp4b	A	G	8: 13,439,679 (GRCm39)	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,113,346 (GRCm39)	I230V	probably benign	Het
Cenpj	C	A	14: 56,769,776 (GRCm39)	V1138L	probably benign	Het
Cep78	A	G	19: 15,958,564 (GRCm39)		probably benign	Het
Clec2j	T	A	6: 128,632,941 (GRCm39)		noncoding transcript	Het
Col5a3	T	C	9: 20,714,296 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,338,660 (GRCm39)	Y482*	probably null	Het
Ctrl	C	A	8: 106,659,890 (GRCm39)		probably benign	Het
Dhcr24	T	A	4: 106,431,068 (GRCm39)	C252*	probably null	Het
Dnaaf9	T	C	2: 130,656,179 (GRCm39)	N110D	probably damaging	Het
Dnah17	G	A	11: 117,989,438 (GRCm39)	P1261S	probably benign	Het
Dnai2	T	C	11: 114,643,768 (GRCm39)	L466P	probably damaging	Het
Dync2h1	A	T	9: 7,071,922 (GRCm39)	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,433,134 (GRCm39)	S191A	probably damaging	Het
Fat4	G	A	3: 39,063,406 (GRCm39)	C4454Y	probably damaging	Het
Fat4	T	C	3: 38,941,907 (GRCm39)	S267P	probably damaging	Het
Frrs1	T	C	3: 116,678,834 (GRCm39)	C219R	probably damaging	Het
Gabra6	T	A	11: 42,207,850 (GRCm39)	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,634,242 (GRCm39)	C242*	probably null	Het
Gm2840	G	A	5: 96,322,136 (GRCm39)		noncoding transcript	Het
Gmcl1p1	G	A	X: 3,078,226 (GRCm39)	G423S	probably benign	Het
Golim4	C	T	3: 75,815,432 (GRCm39)		probably null	Het
Gucy1b1	G	T	3: 81,942,169 (GRCm39)	T530K	probably damaging	Het
Hacl1	A	T	14: 31,362,553 (GRCm39)	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,502,723 (GRCm39)	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,850,095 (GRCm39)	I26T	probably damaging	Het
Hspa1l	G	A	17: 35,197,367 (GRCm39)	A469T	probably damaging	Het
Htra3	T	A	5: 35,821,420 (GRCm39)		probably null	Het
Lrrc28	C	A	7: 67,278,042 (GRCm39)		probably null	Het
Mfhas1	T	C	8: 36,057,613 (GRCm39)	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252 (GRCm39)	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,774,496 (GRCm39)	Y188H	probably damaging	Het
Myom1	A	G	17: 71,408,215 (GRCm39)		probably benign	Het
Naca	A	T	10: 127,876,773 (GRCm39)		probably benign	Het
Nckap1l	T	A	15: 103,371,147 (GRCm39)	V213D	probably benign	Het
Ndufa6	C	T	15: 82,238,282 (GRCm39)	V50M	possibly damaging	Het
Or4c35	T	A	2: 89,808,883 (GRCm39)	F254I	possibly damaging	Het
Or5b111	A	G	19: 13,291,350 (GRCm39)	F100L	possibly damaging	Het
Or5g23	A	G	2: 85,439,105 (GRCm39)	W50R	probably benign	Het
Or8b56	A	G	9: 38,739,646 (GRCm39)	T220A	probably benign	Het
Or8k53	T	A	2: 86,178,077 (GRCm39)	Y11F	possibly damaging	Het
Osbpl1a	T	C	18: 12,896,632 (GRCm39)	Y311C	probably damaging	Het
Parp11	A	C	6: 127,468,562 (GRCm39)	Y204S	probably damaging	Het
Pla2g4a	A	G	1: 149,808,407 (GRCm39)		probably null	Het
Plec	T	C	15: 76,073,458 (GRCm39)	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,534,261 (GRCm39)	Y375N	probably benign	Het
Prss35	C	A	9: 86,637,327 (GRCm39)	S32R	probably benign	Het
Prss57	C	T	10: 79,621,581 (GRCm39)		probably benign	Het
Ptprc	A	C	1: 138,027,219 (GRCm39)		probably null	Het
Rims1	A	G	1: 22,577,683 (GRCm39)	C188R	probably damaging	Het
Ripk4	G	T	16: 97,552,696 (GRCm39)	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,363,728 (GRCm39)		probably benign	Het
Rps6ka4	A	G	19: 6,809,691 (GRCm39)	V378A	probably benign	Het
Rtf1	A	G	2: 119,542,589 (GRCm39)	K298E	probably benign	Het
Sdk1	T	C	5: 142,071,520 (GRCm39)	F1237L	possibly damaging	Het
Slc40a1	T	C	1: 45,948,652 (GRCm39)	K543E	probably benign	Het
Slco1a8	A	G	6: 141,938,238 (GRCm39)	I227T	possibly damaging	Het
Sorcs3	A	T	19: 48,782,607 (GRCm39)	I1041F	possibly damaging	Het
Spata31e4	A	G	13: 50,854,414 (GRCm39)	T91A	probably benign	Het
Spata31f3	T	C	4: 42,868,564 (GRCm39)	E353G	probably benign	Het
Taok3	T	C	5: 117,410,262 (GRCm39)	M818T	probably benign	Het
Tas2r119	T	A	15: 32,178,123 (GRCm39)	F230I	probably damaging	Het
Tbc1d8	T	C	1: 39,420,385 (GRCm39)	D716G	probably damaging	Het
Tfg	A	G	16: 56,521,465 (GRCm39)	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,217,943 (GRCm39)	I45V	probably damaging	Het
Tle1	A	G	4: 72,088,955 (GRCm39)	L96P	probably damaging	Het
Tmem260	A	C	14: 48,717,782 (GRCm39)	S276R	possibly damaging	Het
Utp20	A	G	10: 88,600,643 (GRCm39)	S24P	probably damaging	Het
Vcam1	T	C	3: 115,909,600 (GRCm39)	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,192,538 (GRCm39)	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,240,893 (GRCm39)	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,282,151 (GRCm39)	I822V	probably benign	Het
Wdr6	C	T	9: 108,452,096 (GRCm39)	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,673,643 (GRCm39)	K132N	possibly 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
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
R7707:Cpne6	UTSW	14	55,753,771 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-12-09