Mutagenetix > Incidental Mutation

Incidental Mutation 'RF043:Cpne1'

604904

Institutional Source

Beutler Lab

Gene Symbol

Cpne1

Ensembl Gene

ENSMUSG00000074643

Gene Name

copine I

Synonyms

1810028N16Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.316) question?

Stock #

RF043 (G1)

Quality Score

199.458

Status

Not validated

Chromosome

Chromosomal Location

156071842-156111965 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

TCCAC to TC at 156073510 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038860] [ENSMUST00000079312] [ENSMUST00000109607] [ENSMUST00000109608] [ENSMUST00000132494] [ENSMUST00000136296] [ENSMUST00000142960] [ENSMUST00000147627] [ENSMUST00000153634] [ENSMUST00000184265]

AlphaFold

Q8C166

Predicted Effect

probably benign
Transcript: ENSMUST00000038860

SMART Domains

Protein: ENSMUSP00000036484
Gene: ENSMUSG00000038180

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	19	37	N/A	INTRINSIC
transmembrane domain	137	159	N/A	INTRINSIC
transmembrane domain	166	188	N/A	INTRINSIC
low complexity region	214	222	N/A	INTRINSIC
Pfam:Sad1_UNC	293	426	1.9e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079312

SMART Domains

Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	137	242	8.76e-12	SMART
VWA	282	468	8.96e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109607

SMART Domains

Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	137	242	8.76e-12	SMART
VWA	282	484	9.5e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109608

SMART Domains

Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	137	242	8.76e-12	SMART
VWA	282	484	9.5e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127956

SMART Domains

Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950

Domain	Start	End	E-Value	Type
low complexity region	10	28	N/A	INTRINSIC
low complexity region	73	172	N/A	INTRINSIC
RRM	217	287	1.05e-1	SMART
RRM	343	415	2.73e-7	SMART
RRM	457	529	8.73e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132494

SMART Domains

Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950

Domain	Start	End	E-Value	Type
Pfam:RRM_6	5	70	1.5e-5	PFAM
low complexity region	98	116	N/A	INTRINSIC
low complexity region	161	260	N/A	INTRINSIC
RRM	305	375	1.05e-1	SMART
RRM	431	503	2.73e-7	SMART
RRM	545	617	8.73e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136296

SMART Domains

Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	123	218	7.88e-5	SMART
Pfam:Copine	279	378	2.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140109

SMART Domains

Protein: ENSMUSP00000121998
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
Pfam:Copine	1	148	2.1e-50	PFAM
Pfam:vWA-TerF-like	5	111	2.5e-7	PFAM
low complexity region	167	185	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142960

SMART Domains

Protein: ENSMUSP00000121299
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	2.4e-11	SMART
C2	123	206	3e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147627

SMART Domains

Protein: ENSMUSP00000116982
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	137	242	8.76e-12	SMART
Pfam:Copine	303	350	1.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153634

SMART Domains

Protein: ENSMUSP00000115167
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART
C2	123	218	7.88e-5	SMART
Pfam:Copine	279	325	4.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183733

Predicted Effect

probably benign
Transcript: ENSMUST00000184265

SMART Domains

Protein: ENSMUSP00000138888
Gene: ENSMUSG00000074643

Domain	Start	End	E-Value	Type
C2	6	112	3.64e-9	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Its activity is also upregulated in mouse embryos. This gene and the gene for RNA binding motif protein 12 overlap at map location 2 H2. Two alternatively spliced variants that encode the same isoform have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc2	GCGGCGGCGGCGAC	GC	2: 25,272,561		probably benign	Het
Ankhd1	CGGCGG	CGGCGGTGGCGG	18: 36,560,917		probably benign	Het
Btnl10	CAAA	CAAAAAA	11: 58,923,926		probably benign	Het
Cyb5r4	ACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,411		probably benign	Het
Cyb5r4	AGACACACTGCCCAGGGA	AGACACACTGCCCAGGGATGTGACCGACACACTGCCCAGGGA	9: 87,040,431		probably benign	Het
Dbr1	GAGGAG	GAGGAGCAGGAG	9: 99,583,697		probably benign	Het
Defb22	GCGGCA	GCGGCAGAGCTGGCCTTTGCGGCA	2: 152,485,833		probably benign	Het
Emid1	G	T	11: 5,144,322	P63Q	probably damaging	Het
Gabre	GCTCCG	GCTCCGACTCCG	X: 72,270,048		probably benign	Het
Gar1	AACTGCC	A	3: 129,830,688		probably benign	Het
Gm10181	GAGAGAGAGAGAGA	G	9: 25,089,459		probably null	Het
Hic1	GGGA	G	11: 75,169,455		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,125,842		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCGTTTTCCTTTT	9: 106,570,613		probably benign	Het
Krtap4-2	AGGGGCGGCAGC	A	11: 99,634,721		probably null	Het
Lmx1b	CATCTTGATGCCGTCCAA	CA	2: 33,640,509		probably null	Het
Lrch1	TGGTGGTG	T	14: 74,947,575		probably null	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790		probably benign	Het
Lypd8	CA	CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAAGA	11: 58,390,243		probably benign	Het
Mamld1	AGC	AGCTGC	X: 71,118,835		probably benign	Het
Mrgprx1	GAAC	GAACAAC	7: 48,021,509		probably benign	Het
Nefh	CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA	11: 4,941,016		probably benign	Het
Nusap1	AGTGAGGAGCAAGCTGAGA	AGTGAGGAGCAAGCTGAGATACACGTTAGCCGTGAGGAGCAAGCTGAGA	2: 119,627,592		probably benign	Het
P4ha2	GGTGTTG	GG	11: 54,110,250		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Het
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858		probably benign	Het
Ptms	TCCTCCTC	TCCTCCTCCTC	6: 124,914,448		probably benign	Het
Rassf6	AATGGGGATTC	AATGGGGATTCTGCCTCACTCATGGTCCTGTAGAGCCATGGGGATTC	5: 90,608,932		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCAGGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939		probably benign	Het
Rgs22	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAA	15: 36,010,836		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCGCTC	12: 26,314,014		probably benign	Het
Rpgrip1	GAG	GAGAAG	14: 52,149,395		probably benign	Het
Sgpp1	ACACAC	A	12: 75,722,625		probably null	Het
Slc39a4	GTC	GTCATCATGATCACCATGGTCACCATGATCGCTGTGTTC	15: 76,614,870		probably benign	Het
Spaca1	TCTCGC	TCTCGCGCTCGC	4: 34,049,846		probably benign	Het
Stard8	GA	GAGCA	X: 99,066,527		probably benign	Het
Stard8	GGA	GGATGA	X: 99,066,520		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGAAGGGCACTTTCCCAGGGATCCCCTTGGC	18: 60,833,572		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCGCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,616,036		probably benign	Het
Tmed6	AGC	AGCTCGC	8: 107,061,596		probably null	Het
Trappc9	GCTGCTGCTGCTGCTGCTGCTGCTGCT	GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,801,305		probably benign	Het
Zfp933	TT	TTTGCCT	4: 147,825,731		probably null	Het

Other mutations in Cpne1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02118:Cpne1	APN	2	156077643	missense	possibly damaging	0.90
IGL02291:Cpne1	APN	2	156078420	missense	probably damaging	1.00
IGL02719:Cpne1	APN	2	156078217	missense	probably damaging	1.00
IGL03011:Cpne1	APN	2	156077997	missense	probably damaging	0.99
IGL03347:Cpne1	APN	2	156079176	missense	probably damaging	1.00
johannesburg	UTSW	2	156077641	missense	probably damaging	1.00
FR4304:Cpne1	UTSW	2	156072025	frame shift	probably null
FR4449:Cpne1	UTSW	2	156073502	intron	probably benign
FR4976:Cpne1	UTSW	2	156072025	frame shift	probably null
R0496:Cpne1	UTSW	2	156079419	missense	probably damaging	0.99
R0735:Cpne1	UTSW	2	156078750	critical splice donor site	probably null
R0792:Cpne1	UTSW	2	156077419	missense	probably benign	0.00
R1874:Cpne1	UTSW	2	156078382	missense	probably damaging	0.99
R2015:Cpne1	UTSW	2	156078388	missense	probably damaging	1.00
R2518:Cpne1	UTSW	2	156073971	missense	probably damaging	0.99
R3000:Cpne1	UTSW	2	156073422	makesense	probably null
R3875:Cpne1	UTSW	2	156076282	missense	probably damaging	1.00
R5021:Cpne1	UTSW	2	156098273	intron	probably benign
R5385:Cpne1	UTSW	2	156074364	missense	probably damaging	0.99
R5654:Cpne1	UTSW	2	156077641	missense	probably damaging	1.00
R5959:Cpne1	UTSW	2	156078223	missense	probably benign	0.00
R6775:Cpne1	UTSW	2	156078420	missense	probably damaging	1.00
R7049:Cpne1	UTSW	2	156078807	missense	probably damaging	0.97
R7488:Cpne1	UTSW	2	156077937	missense	probably benign	0.00
R8212:Cpne1	UTSW	2	156078214	missense	probably damaging	0.96
R8332:Cpne1	UTSW	2	156078397	missense	probably benign	0.00
R8870:Cpne1	UTSW	2	156078953	missense	probably benign	0.30
R8921:Cpne1	UTSW	2	156072045	missense	probably benign	0.20
R9094:Cpne1	UTSW	2	156079160	missense	probably damaging	0.99
R9095:Cpne1	UTSW	2	156076290	critical splice acceptor site	probably null
R9311:Cpne1	UTSW	2	156077803	missense	probably damaging	0.99
R9380:Cpne1	UTSW	2	156078801	missense	probably benign	0.01
RF034:Cpne1	UTSW	2	156073510	intron	probably benign
RF037:Cpne1	UTSW	2	156073510	intron	probably benign
Z1176:Cpne1	UTSW	2	156077644	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAAAGCAAGTGTGGCTCTC -3'
(R):5'- AACCAGGGAAACTTACAGGC -3'

Sequencing Primer
(F):5'- CAAAGCAAGTGTGGCTCTCTCTAG -3'
(R):5'- CCCCTCCCTGATCTCGC -3'

Posted On

2019-12-04