Mutagenetix > Incidental Mutation

Incidental Mutation 'R1538:Cpne6'

169736

Institutional Source

Beutler Lab

Gene Symbol

Cpne6

Ensembl Gene

ENSMUSG00000022212

Gene Name

copine VI

Synonyms

neuronal copine

MMRRC Submission

039577-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.307) question?

Stock #

R1538 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

55510445-55517431 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55515220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 289 (V289A)

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

possibly damaging
Transcript: ENSMUST00000074225
AA Change: V289A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: V289A

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

possibly damaging
Transcript: ENSMUST00000163767
AA Change: V289A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: V289A

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: V289A

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: V289A

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

possibly damaging
Transcript: ENSMUST00000171643
AA Change: V289A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: V289A

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: ENSMUST00000228351

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.6%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 138,065,401	R117L	probably benign	Het
4930447C04Rik	G	A	12: 72,881,346	A537V	possibly damaging	Het
4930579F01Rik	A	C	3: 138,183,756	D33E	probably damaging	Het
9530053A07Rik	A	T	7: 28,155,492	I1848F	probably damaging	Het
Acnat1	T	C	4: 49,447,835	K249E	possibly damaging	Het
Ankrd13a	T	C	5: 114,804,234	I526T	possibly damaging	Het
Aplp1	C	A	7: 30,436,027	E535D	probably benign	Het
Armc8	T	A	9: 99,505,290	H425L	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Asprv1	C	T	6: 86,628,636	Q155*	probably null	Het
Atl1	A	G	12: 69,926,188	Q94R	probably benign	Het
Atp2a2	A	G	5: 122,457,377	L970P	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Bod1l	A	G	5: 41,816,429	M2514T	probably benign	Het
Cacfd1	T	A	2: 27,018,939	D97E	probably benign	Het
Cacna1e	A	G	1: 154,561,758	L344P	probably damaging	Het
Cacna2d2	C	A	9: 107,517,416	R596S	probably damaging	Het
Catip	C	A	1: 74,364,652	S176*	probably null	Het
Cdcp1	G	A	9: 123,173,588	S806L	probably damaging	Het
Cdk6	A	T	5: 3,520,675	I289L	probably benign	Het
Cers3	C	T	7: 66,781,823	T182I	probably damaging	Het
Cfap46	T	A	7: 139,683,008	N43I	probably null	Het
Clec4n	A	T	6: 123,230,033	R5S	possibly damaging	Het
Cnr2	G	T	4: 135,916,701	S30I	probably benign	Het
Col18a1	C	T	10: 77,071,336	G870E	probably damaging	Het
Crym	G	A	7: 120,197,715	L141F	probably benign	Het
Cxxc5	T	C	18: 35,858,569	S8P	unknown	Het
Dido1	A	C	2: 180,684,970	S453R	possibly damaging	Het
Dnah2	A	C	11: 69,477,202	S1770R	probably benign	Het
Dnah7a	A	G	1: 53,495,989	V2704A	possibly damaging	Het
Eml5	T	C	12: 98,794,276	N1738S	probably damaging	Het
Eri3	A	G	4: 117,582,639	T138A	possibly damaging	Het
Ext2	C	T	2: 93,707,287	E585K	probably damaging	Het
Fam35a	C	G	14: 34,268,876	Q24H	probably damaging	Het
Fam84b	A	G	15: 60,823,649	C83R	probably damaging	Het
Fbxw19	T	A	9: 109,494,988	S38C	probably damaging	Het
Fmo6	G	A	1: 162,926,106	P156S	probably damaging	Het
Frem3	T	C	8: 80,612,710	L544P	probably damaging	Het
Frem3	A	T	8: 80,613,135	I686F	probably benign	Het
Gabra1	T	C	11: 42,140,350	Y251C	probably benign	Het
Gemin4	G	T	11: 76,211,161	Q925K	probably benign	Het
Gm18856	T	A	13: 13,964,689		probably benign	Het
Gnb1	A	T	4: 155,551,714	T164S	probably benign	Het
Gpx6	A	G	13: 21,313,652	D31G	possibly damaging	Het
Gzmd	A	C	14: 56,130,345	I157S	probably benign	Het
Il31ra	T	A	13: 112,547,466	N43I	possibly damaging	Het
Irak3	T	C	10: 120,165,130	T297A	probably benign	Het
Kank2	T	C	9: 21,774,631	D649G	probably damaging	Het
Kif3b	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	2: 153,317,462		probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klhl18	A	G	9: 110,446,747	F111S	probably damaging	Het
Lrp5	A	G	19: 3,647,585	S319P	possibly damaging	Het
Marc1	T	C	1: 184,802,002	E223G	probably damaging	Het
Mettl15	T	C	2: 109,131,665		probably null	Het
Ncoa1	T	C	12: 4,270,748	Q1107R	possibly damaging	Het
Ncoa7	T	G	10: 30,694,211	M251L	probably damaging	Het
Nos2	A	T	11: 78,956,570	M1023L	probably benign	Het
Nup107	T	C	10: 117,790,494	K25E	probably damaging	Het
Olfr1491	A	T	19: 13,705,496	Y223F	probably damaging	Het
Olfr177	T	A	16: 58,872,898	N84I	probably damaging	Het
Olfr482	T	A	7: 108,095,286	I95F	probably damaging	Het
Olfr591	A	G	7: 103,172,986	I217T	probably damaging	Het
Olfr711	A	T	7: 106,971,983	Y120*	probably null	Het
Olfr776	T	C	10: 129,261,213	I84T	probably damaging	Het
Parm1	G	A	5: 91,594,447	E225K	possibly damaging	Het
Pdzd2	A	C	15: 12,372,961	S2363A	probably damaging	Het
Piezo1	A	G	8: 122,491,403	L1199P	probably damaging	Het
Prpsap1	A	T	11: 116,479,708	M141K	probably benign	Het
Prss29	A	T	17: 25,320,283	M1L	possibly damaging	Het
Pter	T	A	2: 12,978,606	S141T	probably benign	Het
Ptpru	A	T	4: 131,774,351	D1181E	probably damaging	Het
Rab3ip	T	A	10: 116,939,254	Q66H	probably damaging	Het
Rgs12	A	T	5: 35,021,167	T779S	probably damaging	Het
Rgs22	A	G	15: 36,048,776	F786S	probably damaging	Het
Rnasel	A	T	1: 153,760,794	D640V	possibly damaging	Het
Rp1	T	C	1: 4,345,676	T1738A	probably damaging	Het
Sacs	T	C	14: 61,210,059	S3185P	probably damaging	Het
Scnn1a	T	A	6: 125,338,893	D321E	possibly damaging	Het
Sec31b	G	C	19: 44,518,586	L1014V	probably benign	Het
Serpinb10	A	G	1: 107,540,960	Y111C	probably damaging	Het
Siglecg	A	G	7: 43,417,889	K627E	possibly damaging	Het
Sigmar1	T	C	4: 41,740,845	I95V	probably benign	Het
Sirpb1b	T	A	3: 15,548,759	T88S	possibly damaging	Het
Spire2	T	G	8: 123,358,156	L245R	probably damaging	Het
Stard9	C	A	2: 120,696,711	P1150T	probably benign	Het
Stat6	C	A	10: 127,653,256	T380N	probably damaging	Het
Sult3a1	G	A	10: 33,870,170	G162E	probably benign	Het
Surf4	T	C	2: 26,933,698		probably null	Het
Tacc2	T	C	7: 130,625,419	M1278T	probably benign	Het
Tacr2	T	A	10: 62,261,327		probably null	Het
Tcaf1	A	T	6: 42,678,989	V351E	probably damaging	Het
Tmcc2	A	G	1: 132,380,980	S59P	probably damaging	Het
Tmem17	G	A	11: 22,517,266	S60N	possibly damaging	Het
Tmem63b	C	G	17: 45,678,978	R88P	possibly damaging	Het
Tmprss7	A	T	16: 45,679,390	I307N	probably benign	Het
Treml2	A	T	17: 48,302,758	T73S	possibly damaging	Het
Trrap	A	G	5: 144,837,202	H2876R	possibly damaging	Het
Tyw3	A	G	3: 154,596,869	I53T	probably damaging	Het
Ugp2	A	G	11: 21,333,791	I92T	possibly damaging	Het
Vmn2r66	A	T	7: 84,994,958	M748K	possibly damaging	Het
Vmn2r82	T	C	10: 79,356,744	S52P	possibly damaging	Het
Wdr37	A	T	13: 8,836,792	S320T	probably benign	Het
Zbtb16	A	T	9: 48,832,283	M243K	probably benign	Het
Zfr	C	T	15: 12,150,243	T432I	possibly damaging	Het

Other mutations in Cpne6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Cpne6	APN	14	55512730	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GTGCTTGACCATGAGTGTCTGACTG -3'
(R):5'- TGCGGCATCCATGAGAACCAAC -3'

Sequencing Primer
(F):5'- CCATGAGTGTCTGACTGTCTGTC -3'
(R):5'- CCATAGGCGGCCTCATAATG -3'

Posted On

2014-04-13