Mutagenetix > Incidental Mutation

Incidental Mutation 'R7745:Cpne2'

596799

Institutional Source

Beutler Lab

Gene Symbol

Cpne2

Ensembl Gene

ENSMUSG00000034361

Gene Name

copine II

Synonyms

3322401K10Rik

MMRRC Submission

045801-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R7745 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95259618-95297159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 95295312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 466 (S466A)

Ref Sequence

ENSEMBL: ENSMUSP00000045755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048653] [ENSMUST00000109537]

AlphaFold

P59108

Predicted Effect

probably damaging
Transcript: ENSMUST00000048653
AA Change: S466A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045755
Gene: ENSMUSG00000034361
AA Change: S466A

Domain	Start	End	E-Value	Type
C2	24	130	1.82e-9	SMART
C2	155	261	8.25e-8	SMART
low complexity region	269	278	N/A	INTRINSIC
VWA	305	507	7.26e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109537
AA Change: S465A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105163
Gene: ENSMUSG00000034361
AA Change: S465A

Domain	Start	End	E-Value	Type
C2	24	130	1.82e-9	SMART
C2	155	261	8.25e-8	SMART
low complexity region	269	278	N/A	INTRINSIC
VWA	305	506	8.94e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212550

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (55/57)

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	C	3: 59,945,893 (GRCm39)	S188R	probably damaging	Het
Aars1	T	A	8: 111,768,289 (GRCm39)	I220N	probably damaging	Het
Abca15	A	G	7: 119,931,440 (GRCm39)	N16S	probably damaging	Het
Adck1	A	T	12: 88,423,570 (GRCm39)	M358L	probably benign	Het
Adck5	A	T	15: 76,478,748 (GRCm39)	Q345L	probably benign	Het
Adgrl2	A	G	3: 148,542,094 (GRCm39)	F876S	probably damaging	Het
Aebp2	T	A	6: 140,569,584 (GRCm39)	L55Q	unknown	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Aox3	T	C	1: 58,215,676 (GRCm39)	V1036A	possibly damaging	Het
Aox4	A	G	1: 58,279,866 (GRCm39)	D494G	probably benign	Het
Cacna1a	C	A	8: 85,286,023 (GRCm39)	H889Q	probably benign	Het
Cacna1c	T	C	6: 119,029,587 (GRCm39)	D151G		Het
Car8	A	G	4: 8,237,939 (GRCm39)	V92A	possibly damaging	Het
Ccdc8	G	T	7: 16,729,614 (GRCm39)	A368S	unknown	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cntnap5a	A	G	1: 116,370,013 (GRCm39)	I877V	probably benign	Het
Copa	A	T	1: 171,939,509 (GRCm39)	D582V	probably damaging	Het
Crybg2	A	G	4: 133,816,156 (GRCm39)	K1311R	possibly damaging	Het
Csmd1	A	G	8: 15,982,461 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,342,144 (GRCm39)	C2947*	probably null	Het
Exoc1	A	T	5: 76,709,359 (GRCm39)	K656*	probably null	Het
Exoc8	T	C	8: 125,622,558 (GRCm39)	N603S	probably benign	Het
Fam171a1	T	A	2: 3,226,483 (GRCm39)	C539S	possibly damaging	Het
Fastkd5	A	T	2: 130,456,988 (GRCm39)	I534K	probably damaging	Het
Fbn1	T	C	2: 125,145,115 (GRCm39)	D2708G	probably benign	Het
Fhad1	A	G	4: 141,618,250 (GRCm39)	L1392P	probably benign	Het
Fras1	A	T	5: 96,874,754 (GRCm39)	T2306S	probably benign	Het
Gdf7	G	T	12: 8,351,854 (GRCm39)	A27E	unknown	Het
Hnrnph1	A	T	11: 50,270,324 (GRCm39)	I43F	probably damaging	Het
Igkv8-27	T	A	6: 70,148,999 (GRCm39)	S52C	probably benign	Het
Jmjd1c	T	C	10: 67,052,824 (GRCm39)	F24L	probably damaging	Het
Knl1	T	G	2: 118,902,037 (GRCm39)	L1246R	probably benign	Het
Limk2	C	T	11: 3,305,896 (GRCm39)	S191N	probably damaging	Het
Mdga2	C	A	12: 66,736,125 (GRCm39)	A368S	possibly damaging	Het
Mdga2	G	A	12: 66,736,124 (GRCm39)	A368V	probably damaging	Het
Med24	A	T	11: 98,595,793 (GRCm39)	L966Q	probably damaging	Het
Mgll	T	C	6: 88,702,770 (GRCm39)	V23A	possibly damaging	Het
Nedd1	C	T	10: 92,550,034 (GRCm39)	D84N	probably benign	Het
Obscn	A	C	11: 58,951,681 (GRCm39)	L4024R	probably damaging	Het
Or5k1b	A	T	16: 58,580,782 (GRCm39)	Y252*	probably null	Het
Pcnx2	T	C	8: 126,577,846 (GRCm39)	I944V	probably benign	Het
Pecr	T	C	1: 72,306,157 (GRCm39)		probably null	Het
Phf3	A	T	1: 30,843,305 (GRCm39)	W1885R	probably damaging	Het
Pitpnm2	C	G	5: 124,266,768 (GRCm39)	A697P	probably benign	Het
Piwil2	T	A	14: 70,631,638 (GRCm39)	H602L	probably benign	Het
Pprc1	T	C	19: 46,053,781 (GRCm39)	S1104P	unknown	Het
Prkar1a	T	A	11: 109,544,673 (GRCm39)	Y21*	probably null	Het
Prl2c3	A	T	13: 12,813,186 (GRCm39)	Y9*	probably null	Het
Rhbdl3	T	A	11: 80,214,405 (GRCm39)	L172Q	possibly damaging	Het
Rsph3a	T	G	17: 8,198,075 (GRCm39)	L484W	probably damaging	Het
Sbno1	A	T	5: 124,530,962 (GRCm39)	S809T	probably benign	Het
Stmnd1	T	A	13: 46,453,077 (GRCm39)	V251E	possibly damaging	Het
Stt3a	A	T	9: 36,662,535 (GRCm39)	C241*	probably null	Het
Tas2r114	A	T	6: 131,666,401 (GRCm39)	M209K	probably damaging	Het
Tchh	G	T	3: 93,352,084 (GRCm39)	R508L	unknown	Het
Tgfbr3l	T	C	8: 4,300,622 (GRCm39)	S267P	possibly damaging	Het
Ttn	T	A	2: 76,598,144 (GRCm39)	I19590F	probably damaging	Het
Vmn1r171	A	G	7: 23,332,035 (GRCm39)	T87A	probably benign	Het

Other mutations in Cpne2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01688:Cpne2	APN	8	95,281,381 (GRCm39)	missense	possibly damaging	0.84
IGL02702:Cpne2	APN	8	95,296,651 (GRCm39)	missense	probably benign	0.03
IGL03277:Cpne2	APN	8	95,275,000 (GRCm39)	missense	probably benign	0.00
R0018:Cpne2	UTSW	8	95,282,681 (GRCm39)	missense	possibly damaging	0.93
R0018:Cpne2	UTSW	8	95,282,681 (GRCm39)	missense	possibly damaging	0.93
R0126:Cpne2	UTSW	8	95,281,561 (GRCm39)	missense	probably damaging	1.00
R0135:Cpne2	UTSW	8	95,281,553 (GRCm39)	unclassified	probably benign
R0167:Cpne2	UTSW	8	95,295,207 (GRCm39)	unclassified	probably benign
R0661:Cpne2	UTSW	8	95,282,667 (GRCm39)	missense	possibly damaging	0.78
R0671:Cpne2	UTSW	8	95,274,970 (GRCm39)	start gained	probably benign
R4691:Cpne2	UTSW	8	95,284,849 (GRCm39)	missense	probably damaging	0.99
R4856:Cpne2	UTSW	8	95,290,592 (GRCm39)	missense	probably benign	0.00
R4886:Cpne2	UTSW	8	95,290,592 (GRCm39)	missense	probably benign	0.00
R6632:Cpne2	UTSW	8	95,281,583 (GRCm39)	missense	probably benign	0.00
R6699:Cpne2	UTSW	8	95,290,587 (GRCm39)	missense	probably damaging	0.99
R6968:Cpne2	UTSW	8	95,275,130 (GRCm39)	missense	probably damaging	1.00
R7117:Cpne2	UTSW	8	95,282,172 (GRCm39)	missense	probably damaging	1.00
R7505:Cpne2	UTSW	8	95,275,094 (GRCm39)	missense	possibly damaging	0.90
R7571:Cpne2	UTSW	8	95,278,408 (GRCm39)	missense	probably benign
R7583:Cpne2	UTSW	8	95,282,209 (GRCm39)	missense	probably benign
R7612:Cpne2	UTSW	8	95,284,048 (GRCm39)	missense	probably benign	0.01
R7845:Cpne2	UTSW	8	95,277,832 (GRCm39)	missense	probably benign	0.16
R8278:Cpne2	UTSW	8	95,281,316 (GRCm39)	missense	probably damaging	1.00
R8319:Cpne2	UTSW	8	95,280,040 (GRCm39)	missense	probably benign	0.01
R8954:Cpne2	UTSW	8	95,284,774 (GRCm39)	missense	probably damaging	1.00
R9082:Cpne2	UTSW	8	95,295,237 (GRCm39)	missense	probably benign	0.45
R9275:Cpne2	UTSW	8	95,281,643 (GRCm39)	missense	possibly damaging	0.95
R9588:Cpne2	UTSW	8	95,286,781 (GRCm39)	missense	possibly damaging	0.92
R9734:Cpne2	UTSW	8	95,295,228 (GRCm39)	missense	probably benign	0.34
X0025:Cpne2	UTSW	8	95,284,079 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTCCAAGATGTCCATGGTATG -3'
(R):5'- AGGAATCTGAGACTATGAGCTCTG -3'

Sequencing Primer
(F):5'- ATGGTTTGCCTCCTTCAGG -3'
(R):5'- TCTGTCAGAGACCCTCCCAAC -3'

Posted On

2019-11-26