Mutagenetix > Incidental Mutation

Incidental Mutation 'R8910:Cpne4'

700851

Institutional Source

Beutler Lab

Gene Symbol

Cpne4

Ensembl Gene

ENSMUSG00000032564

Gene Name

copine IV

Synonyms

3632411M23Rik, 4933406O10Rik

MMRRC Submission

068701-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R8910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104443900-104911747 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 104799706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057742] [ENSMUST00000077190] [ENSMUST00000213120] [ENSMUST00000213452]

AlphaFold

Q8BLR2

Predicted Effect

silent
Transcript: ENSMUST00000057742

SMART Domains

Protein: ENSMUSP00000049663
Gene: ENSMUSG00000032564

Domain	Start	End	E-Value	Type
C2	24	130	4.29e-6	SMART
C2	144	261	4.22e-5	SMART
low complexity region	269	279	N/A	INTRINSIC
VWA	305	507	2.61e-12	SMART

Predicted Effect

silent
Transcript: ENSMUST00000077190

SMART Domains

Protein: ENSMUSP00000076432
Gene: ENSMUSG00000032564

Domain	Start	End	E-Value	Type
C2	24	130	4.29e-6	SMART
C2	144	275	1.94e1	SMART
VWA	223	425	9.73e-12	SMART

Predicted Effect

silent
Transcript: ENSMUST00000213120

Predicted Effect

probably benign
Transcript: ENSMUST00000213452

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,768 (GRCm39)	I1058V	probably benign	Het
Abca5	T	C	11: 110,189,030 (GRCm39)	E809G	probably damaging	Het
Akap12	A	T	10: 4,263,822 (GRCm39)	Q77L	probably benign	Het
Aldh5a1	A	G	13: 25,102,599 (GRCm39)	V288A	probably damaging	Het
Alox5	C	A	6: 116,389,510 (GRCm39)	E586*	probably null	Het
Anxa2r1	T	A	13: 120,508,356 (GRCm39)		probably benign	Het
Arid5b	A	G	10: 67,934,108 (GRCm39)	F598S		Het
Btc	A	C	5: 91,508,671 (GRCm39)	M157R	probably benign	Het
Cadps2	T	C	6: 23,344,223 (GRCm39)	N908S	probably benign	Het
Cd244a	C	A	1: 171,386,941 (GRCm39)	H17N	probably damaging	Het
Cdh15	T	C	8: 123,575,240 (GRCm39)	L5P	probably benign	Het
Cep15	A	G	14: 12,285,444 (GRCm38)	H10R	probably benign	Het
Cept1	A	C	3: 106,446,565 (GRCm39)	S94A	probably benign	Het
Cntn4	T	C	6: 106,632,497 (GRCm39)	M507T	probably benign	Het
Dffb	T	C	4: 154,057,416 (GRCm39)	D87G	possibly damaging	Het
Dlgap1	C	T	17: 71,093,815 (GRCm39)	T712I	probably damaging	Het
Dnhd1	A	C	7: 105,332,904 (GRCm39)	H155P	possibly damaging	Het
Dpyd	A	G	3: 118,404,167 (GRCm39)	K38R	probably benign	Het
Evx1	C	T	6: 52,293,746 (GRCm39)	R305C	probably damaging	Het
Ezr	A	G	17: 7,023,299 (GRCm39)	L47P	probably damaging	Het
Fabp6	C	T	11: 43,492,335 (GRCm39)	A2T	possibly damaging	Het
Fam78a	G	A	2: 31,959,681 (GRCm39)	T143M	probably damaging	Het
Fam83h	C	T	15: 75,874,844 (GRCm39)	G831D	probably benign	Het
Fermt2	G	A	14: 45,702,389 (GRCm39)	A465V	probably damaging	Het
Fras1	T	C	5: 96,715,855 (GRCm39)	S358P	probably benign	Het
Frem1	C	A	4: 82,868,694 (GRCm39)	G1429V	probably benign	Het
Fst	T	A	13: 114,590,245 (GRCm39)		probably benign	Het
Gfpt1	T	C	6: 87,030,787 (GRCm39)	I57T	probably benign	Het
Gimap6	A	G	6: 48,679,388 (GRCm39)	I216T	probably damaging	Het
Gm10267	T	A	18: 44,289,511 (GRCm39)	N73I	possibly damaging	Het
H2-M2	G	A	17: 37,792,413 (GRCm39)	T286I	probably damaging	Het
Hgs	T	C	11: 120,369,202 (GRCm39)		probably null	Het
Klra6	T	C	6: 129,993,647 (GRCm39)	E208G	probably benign	Het
L3mbtl1	A	T	2: 162,812,213 (GRCm39)	T753S	probably benign	Het
Larp6	A	G	9: 60,620,526 (GRCm39)	E13G	probably benign	Het
Mroh2b	A	G	15: 4,960,855 (GRCm39)	I806V	probably benign	Het
Myo1g	T	C	11: 6,468,009 (GRCm39)	N142S	possibly damaging	Het
Myo3a	A	G	2: 22,464,280 (GRCm39)	T1112A	probably benign	Het
Or4b1b	C	A	2: 90,126,848 (GRCm39)	R119L	possibly damaging	Het
Pelp1	A	T	11: 70,287,461 (GRCm39)	M449K	probably damaging	Het
Ppp4r1	T	C	17: 66,144,768 (GRCm39)	V795A	probably damaging	Het
Ppp4r3b	G	T	11: 29,146,290 (GRCm39)	M372I	probably null	Het
Ptprk	T	C	10: 28,368,993 (GRCm39)	V655A	possibly damaging	Het
Rad51d	T	C	11: 82,773,793 (GRCm39)	R166G	probably damaging	Het
Rbm19	T	A	5: 120,271,844 (GRCm39)	Y650N	probably damaging	Het
Rreb1	A	G	13: 38,132,741 (GRCm39)	K204E		Het
Ryr1	A	G	7: 28,771,340 (GRCm39)	L2567P	probably damaging	Het
Scn3a	T	A	2: 65,338,883 (GRCm39)	S599C	probably damaging	Het
Slc7a15	T	A	12: 8,589,117 (GRCm39)		probably benign	Het
Taf6	T	C	5: 138,182,716 (GRCm39)	T12A	probably benign	Het
Tbc1d10b	T	C	7: 126,806,938 (GRCm39)	T200A	probably benign	Het
Tex21	C	T	12: 76,263,533 (GRCm39)		probably benign	Het
Thap4	T	C	1: 93,642,666 (GRCm39)	H515R	probably damaging	Het
Tmem94	A	G	11: 115,688,252 (GRCm39)	Q1237R	probably damaging	Het
Tppp3	A	G	8: 106,194,924 (GRCm39)	V69A	probably benign	Het
Unc5a	A	G	13: 55,151,401 (GRCm39)	E695G	possibly damaging	Het
Wtip	G	A	7: 33,832,063 (GRCm39)	P141L	possibly damaging	Het
Wwp1	A	T	4: 19,627,741 (GRCm39)	M718K	possibly damaging	Het
Zbtb25	A	C	12: 76,395,908 (GRCm39)	V438G	probably damaging	Het
Zfp444	T	C	7: 6,187,026 (GRCm39)	L46P	probably damaging	Het
Zfp521	T	C	18: 13,977,233 (GRCm39)	H1060R	probably benign	Het
Zkscan14	A	G	5: 145,132,190 (GRCm39)	F447S	probably damaging	Het

Other mutations in Cpne4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01650:Cpne4	APN	9	104,778,710 (GRCm39)	missense	probably damaging	1.00
IGL01871:Cpne4	APN	9	104,802,956 (GRCm39)	missense	possibly damaging	0.93
IGL02097:Cpne4	APN	9	104,563,701 (GRCm39)	missense	probably damaging	1.00
IGL02698:Cpne4	APN	9	104,909,984 (GRCm39)	missense	probably damaging	1.00
IGL02933:Cpne4	APN	9	104,896,966 (GRCm39)	missense	possibly damaging	0.64
R0471:Cpne4	UTSW	9	104,899,481 (GRCm39)	splice site	probably null
R0528:Cpne4	UTSW	9	104,563,640 (GRCm39)	missense	probably damaging	0.99
R0698:Cpne4	UTSW	9	104,802,994 (GRCm39)	missense	probably damaging	1.00
R1025:Cpne4	UTSW	9	104,871,057 (GRCm39)	missense	possibly damaging	0.64
R1054:Cpne4	UTSW	9	104,899,600 (GRCm39)	missense	probably benign	0.01
R1300:Cpne4	UTSW	9	104,870,333 (GRCm39)	missense	probably damaging	1.00
R1422:Cpne4	UTSW	9	104,777,484 (GRCm39)	missense	probably damaging	0.98
R1439:Cpne4	UTSW	9	104,866,831 (GRCm39)	missense	probably damaging	0.99
R1634:Cpne4	UTSW	9	104,866,778 (GRCm39)	missense	possibly damaging	0.94
R1777:Cpne4	UTSW	9	104,749,887 (GRCm39)	missense	probably damaging	1.00
R2992:Cpne4	UTSW	9	104,899,564 (GRCm39)	missense	probably damaging	1.00
R4094:Cpne4	UTSW	9	104,563,734 (GRCm39)	missense	probably damaging	1.00
R4729:Cpne4	UTSW	9	104,799,755 (GRCm39)	missense	probably damaging	0.96
R4943:Cpne4	UTSW	9	104,896,972 (GRCm39)	missense	probably damaging	1.00
R5119:Cpne4	UTSW	9	104,778,720 (GRCm39)	splice site	probably null
R5787:Cpne4	UTSW	9	104,899,600 (GRCm39)	missense	probably benign	0.01
R5839:Cpne4	UTSW	9	104,803,027 (GRCm39)	missense	probably damaging	1.00
R5876:Cpne4	UTSW	9	104,802,969 (GRCm39)	missense	probably damaging	0.98
R7386:Cpne4	UTSW	9	104,749,939 (GRCm39)	missense	possibly damaging	0.82
R7849:Cpne4	UTSW	9	104,563,718 (GRCm39)	missense	probably damaging	0.99
R7887:Cpne4	UTSW	9	104,909,990 (GRCm39)	missense	probably damaging	1.00
R9267:Cpne4	UTSW	9	104,884,833 (GRCm39)	missense	probably damaging	0.97
R9368:Cpne4	UTSW	9	104,563,738 (GRCm39)	missense	probably damaging	0.99
R9407:Cpne4	UTSW	9	104,749,963 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACACACTGACTTGGGGTAAG -3'
(R):5'- AAGAAATAGGATGTCCCATGGC -3'

Sequencing Primer
(F):5'- CACTGACTTGGGGTAAGGAGGAG -3'
(R):5'- GAAGAGTCCGGCAATTGACTTTCC -3'

Posted On

2022-02-11