Mutagenetix > Incidental Mutation

Incidental Mutation 'R8190:Cpne6'

635109

Institutional Source

Beutler Lab

Gene Symbol

Cpne6

Ensembl Gene

ENSMUSG00000022212

Gene Name

copine VI

Synonyms

neuronal copine

MMRRC Submission

067613-MU

Accession Numbers

Essential gene?

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

Stock #

R8190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55747902-55754888 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55749485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 15 (M15T)

Ref Sequence

ENSEMBL: ENSMUSP00000073847 (fasta)

Gene Model

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

AlphaFold

Q9Z140

Predicted Effect

probably benign
Transcript: ENSMUST00000074225
AA Change: M15T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: M15T

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 benign
Transcript: ENSMUST00000163767
AA Change: M15T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: M15T

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: ENSMUST00000165262
AA Change: M15T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: M15T

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

possibly damaging
Transcript: ENSMUST00000165725
AA Change: M15T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130799
Gene: ENSMUSG00000022212
AA Change: M15T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000171643
AA Change: M15T

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: M15T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,706,030 (GRCm39)	V113A	possibly damaging	Het
Adcy7	A	G	8: 89,037,666 (GRCm39)	M245V	possibly damaging	Het
Adgra1	G	T	7: 139,456,034 (GRCm39)	R554L	probably benign	Het
Agfg2	T	A	5: 137,653,664 (GRCm39)	M351L	probably benign	Het
Ahnak	G	A	19: 8,979,619 (GRCm39)	G301D	probably benign	Het
Ambra1	C	T	2: 91,602,697 (GRCm39)	A227V	possibly damaging	Het
Ankrd24	T	A	10: 81,474,152 (GRCm39)	D166E	unknown	Het
Anks1	C	T	17: 28,205,778 (GRCm39)	P341S	probably benign	Het
Ano4	C	T	10: 88,808,607 (GRCm39)	D766N	probably benign	Het
Apol7e	A	T	15: 77,602,007 (GRCm39)	T202S	possibly damaging	Het
Arhgap44	C	A	11: 64,929,479 (GRCm39)	C275F	probably damaging	Het
Arl6ip4	A	C	5: 124,255,095 (GRCm39)	K95T	probably damaging	Het
Bbs9	T	C	9: 22,590,284 (GRCm39)	L674P	probably damaging	Het
Bmp4	T	A	14: 46,621,972 (GRCm39)	M191L	probably benign	Het
Celsr1	A	G	15: 85,787,090 (GRCm39)	L2753P	probably damaging	Het
Cerkl	T	A	2: 79,163,901 (GRCm39)	H473L	probably benign	Het
Cfap99	A	T	5: 34,482,502 (GRCm39)	T538S	possibly damaging	Het
Clock	A	T	5: 76,375,051 (GRCm39)	V706E	probably damaging	Het
Deaf1	T	C	7: 140,894,324 (GRCm39)	D351G	probably damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Eif3j1	A	T	2: 121,877,969 (GRCm39)	D119V	probably damaging	Het
Eps8l1	C	A	7: 4,474,297 (GRCm39)	S195Y	probably benign	Het
Exosc5	T	C	7: 25,365,769 (GRCm39)		probably null	Het
Fabp2	A	T	3: 122,690,419 (GRCm39)	H34L	probably benign	Het
Fbln5	T	A	12: 101,723,555 (GRCm39)	Q382L	probably damaging	Het
Fbxo34	C	A	14: 47,767,879 (GRCm39)	T464K	possibly damaging	Het
Fndc8	T	G	11: 82,788,686 (GRCm39)	V172G	probably damaging	Het
Frs2	C	T	10: 116,910,784 (GRCm39)	V193I	possibly damaging	Het
Gadd45a	A	G	6: 67,013,813 (GRCm39)	I44T	possibly damaging	Het
Gprin3	A	G	6: 59,331,456 (GRCm39)	S284P	possibly damaging	Het
Gsta4	T	C	9: 78,105,654 (GRCm39)	V28A	possibly damaging	Het
Herc1	T	A	9: 66,325,733 (GRCm39)	D1402E	probably benign	Het
Hipk2	A	T	6: 38,795,728 (GRCm39)	S180R	possibly damaging	Het
Hrg	A	T	16: 22,779,793 (GRCm39)	H357L	unknown	Het
Htr4	A	G	18: 62,570,971 (GRCm39)	Q342R	possibly damaging	Het
Impa1	A	G	3: 10,386,688 (GRCm39)	S184P	possibly damaging	Het
Iqgap3	A	T	3: 87,998,086 (GRCm39)	Q281L	probably damaging	Het
Kcnh8	C	T	17: 53,263,936 (GRCm39)	P811L	probably damaging	Het
Lpin1	T	C	12: 16,599,003 (GRCm39)	I628V		Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mfn1	A	T	3: 32,622,538 (GRCm39)	I599F	possibly damaging	Het
Nalcn	T	A	14: 123,837,351 (GRCm39)	R4S	possibly damaging	Het
Nbeal2	C	T	9: 110,455,158 (GRCm39)	R2580Q	probably benign	Het
Nlrp4b	A	G	7: 10,448,319 (GRCm39)	N174S	probably damaging	Het
Or3a4	T	A	11: 73,945,305 (GRCm39)	R93S	probably benign	Het
Or4q3	A	T	14: 50,583,179 (GRCm39)	V240D	probably damaging	Het
Or52a5	A	T	7: 103,426,802 (GRCm39)	V250D	probably damaging	Het
Or5p63	A	G	7: 107,811,014 (GRCm39)	F241L	possibly damaging	Het
Pabpc2	G	A	18: 39,908,520 (GRCm39)	R595Q	probably benign	Het
Pak6	C	T	2: 118,520,578 (GRCm39)	Q190*	probably null	Het
Pds5a	A	T	5: 65,781,341 (GRCm39)	H1046Q	probably damaging	Het
Plin1	A	G	7: 79,373,028 (GRCm39)	S314P	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptpra	G	A	2: 30,328,351 (GRCm39)	S224N	probably damaging	Het
Rbp1	T	G	9: 98,326,709 (GRCm39)	W107G	probably damaging	Het
Rgs7bp	T	C	13: 105,189,617 (GRCm39)	N61D	probably damaging	Het
Slc1a6	A	G	10: 78,627,067 (GRCm39)	T135A	probably damaging	Het
Smarcc1	T	A	9: 110,031,602 (GRCm39)	D783E	probably benign	Het
Sufu	G	T	19: 46,389,636 (GRCm39)	E86*	probably null	Het
Synm	A	T	7: 67,383,654 (GRCm39)	M1336K	probably benign	Het
Tgm1	C	T	14: 55,942,341 (GRCm39)	G670D	probably damaging	Het
Tmc8	T	G	11: 117,682,186 (GRCm39)		probably null	Het
Togaram1	T	C	12: 65,053,686 (GRCm39)	V1322A	probably damaging	Het
Uxs1	A	T	1: 43,810,911 (GRCm39)	I225K	possibly damaging	Het
Vil1	G	T	1: 74,474,052 (GRCm39)	E796*	probably null	Het
Vmn1r174	T	C	7: 23,453,568 (GRCm39)	F78S	probably damaging	Het
Vps13d	T	A	4: 144,879,321 (GRCm39)	I1501F		Het
Vps8	A	T	16: 21,393,780 (GRCm39)	T1216S	possibly damaging	Het
Yipf4	G	T	17: 74,800,967 (GRCm39)	R95L	probably damaging	Het
Zan	T	A	5: 137,465,346 (GRCm39)	T470S	probably damaging	Het
Zfp113	G	T	5: 138,143,258 (GRCm39)	H331N	probably damaging	Het
Zfp62	A	G	11: 49,106,902 (GRCm39)	Y331C	probably damaging	Het
Zfyve26	T	C	12: 79,327,610 (GRCm39)	H580R	probably benign	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
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
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'- GGGAAGAGCTTGTCCTTAGG -3'
(R):5'- AGGTCCTTTGGAATCATCACG -3'

Sequencing Primer
(F):5'- TTAGGACCCCAGGACCTCAAG -3'
(R):5'- GGAATCATCACGTTCCCCATC -3'

Posted On

2020-07-13