Mutagenetix > Incidental Mutation

Incidental Mutation 'R8431:Cpne3'

653738

Institutional Source

Beutler Lab

Gene Symbol

Cpne3

Ensembl Gene

ENSMUSG00000028228

Gene Name

copine III

Synonyms

5430428M23Rik, CPN3, PRO1071, 5730450C07Rik

MMRRC Submission

067776-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R8431 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19519254-19570108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19526316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 408 (A408S)

Ref Sequence

ENSEMBL: ENSMUSP00000029885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029885]

AlphaFold

Q8BT60

Predicted Effect

probably damaging
Transcript: ENSMUST00000029885
AA Change: A408S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228
AA Change: A408S

Domain	Start	End	E-Value	Type
C2	7	114	1.06e-10	SMART
C2	139	245	9.53e-13	SMART
low complexity region	253	262	N/A	INTRINSIC
VWA	289	495	7.54e-18	SMART

Coding Region Coverage

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

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,694,873 (GRCm39)	F273S		Het
Abhd14b	G	T	9: 106,328,612 (GRCm39)	A78S	probably benign	Het
Adamtsl5	G	A	10: 80,181,228 (GRCm39)	P51L	probably benign	Het
Adap1	A	C	5: 139,259,180 (GRCm39)	F336V	probably benign	Het
Ankrd33b	T	C	15: 31,305,248 (GRCm39)	N172S	probably damaging	Het
Arhgap24	A	G	5: 103,040,464 (GRCm39)	E560G	possibly damaging	Het
Ascc2	A	T	11: 4,614,227 (GRCm39)		probably null	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Card6	A	T	15: 5,129,758 (GRCm39)	F546Y	probably damaging	Het
Cby3	T	G	11: 50,250,084 (GRCm39)	S2A	probably damaging	Het
Cct3	T	C	3: 88,225,831 (GRCm39)	S385P	possibly damaging	Het
Cfap65	C	T	1: 74,967,203 (GRCm39)	G249R	probably benign	Het
Ctsr	A	C	13: 61,308,304 (GRCm39)	L280R	probably damaging	Het
D930048N14Rik	GGG	GGGG	11: 51,541,946 (GRCm39)		probably null	Het
Dlg4	A	G	11: 69,930,388 (GRCm39)	I388V	probably benign	Het
Ednrb	T	A	14: 104,080,633 (GRCm39)	I94F	probably benign	Het
Eftud2	C	A	11: 102,737,062 (GRCm39)	A573S	probably benign	Het
Fsip2	C	A	2: 82,811,910 (GRCm39)	P2743Q	probably damaging	Het
Gp2	C	T	7: 119,042,010 (GRCm39)	C505Y	probably benign	Het
Ier5	C	A	1: 154,974,306 (GRCm39)	D291Y	probably benign	Het
Ifi207	T	C	1: 173,558,070 (GRCm39)	I223V	unknown	Het
Ifi208	T	C	1: 173,510,844 (GRCm39)	V333A	possibly damaging	Het
Kank4	T	C	4: 98,667,509 (GRCm39)	I313V	probably benign	Het
Klhl7	T	C	5: 24,343,473 (GRCm39)	V263A	possibly damaging	Het
Klrg2	T	C	6: 38,605,122 (GRCm39)	D314G	probably benign	Het
Lrr1	T	C	12: 69,225,470 (GRCm39)	M382T	possibly damaging	Het
Ly6e	A	T	15: 74,830,190 (GRCm39)	Q48L	probably benign	Het
Marchf6	C	T	15: 31,505,892 (GRCm39)	W43*	probably null	Het
Mepe	A	G	5: 104,486,047 (GRCm39)	T396A	possibly damaging	Het
Myh8	T	G	11: 67,174,440 (GRCm39)	L229R	possibly damaging	Het
Ndufa10	C	G	1: 92,379,732 (GRCm39)		probably null	Het
Nek1	C	A	8: 61,487,066 (GRCm39)	A272E	possibly damaging	Het
Nr1h2	T	C	7: 44,199,767 (GRCm39)	Y384C	probably damaging	Het
Or4c118	C	A	2: 88,974,723 (GRCm39)	V215F	probably benign	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Phf2	A	G	13: 48,975,078 (GRCm39)	F294S	unknown	Het
Polr3e	A	T	7: 120,530,528 (GRCm39)	I173F	probably damaging	Het
Ppfia2	A	T	10: 106,671,952 (GRCm39)	R464*	probably null	Het
Ppp1r9a	T	A	6: 5,115,456 (GRCm39)	S860T	probably benign	Het
Rnf144a	T	C	12: 26,377,300 (GRCm39)	Y93C	probably damaging	Het
Ryr2	T	C	13: 11,673,894 (GRCm39)	E3390G	probably benign	Het
Scn7a	T	C	2: 66,534,164 (GRCm39)	T504A	possibly damaging	Het
Slc26a5	T	G	5: 22,018,904 (GRCm39)	D645A	probably damaging	Het
Sp140l2	G	A	1: 85,235,170 (GRCm39)	H130Y	probably benign	Het
Ston2	T	A	12: 91,615,071 (GRCm39)	I446F	probably damaging	Het
Tcp11l1	G	A	2: 104,530,314 (GRCm39)	P57S	probably damaging	Het
Th	G	T	7: 142,446,801 (GRCm39)	H488Q	probably benign	Het
Tmprss4	A	T	9: 45,095,661 (GRCm39)	I61N	probably benign	Het
Wdtc1	A	G	4: 133,049,481 (GRCm39)		probably null	Het
Xpnpep1	T	C	19: 52,983,937 (GRCm39)	N596S	probably benign	Het

Other mutations in Cpne3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Cpne3	APN	4	19,543,318 (GRCm39)	missense	probably damaging	1.00
IGL01325:Cpne3	APN	4	19,535,229 (GRCm39)	missense	probably benign	0.00
IGL01467:Cpne3	APN	4	19,553,737 (GRCm39)	missense	probably benign
IGL02043:Cpne3	APN	4	19,543,340 (GRCm39)	splice site	probably null
IGL02992:Cpne3	APN	4	19,532,486 (GRCm39)	missense	probably benign
IGL03330:Cpne3	APN	4	19,553,774 (GRCm39)	missense	possibly damaging	0.63
LCD18:Cpne3	UTSW	4	19,563,382 (GRCm39)	intron	probably benign
R0507:Cpne3	UTSW	4	19,532,544 (GRCm39)	splice site	probably benign
R0652:Cpne3	UTSW	4	19,532,486 (GRCm39)	missense	probably benign
R1499:Cpne3	UTSW	4	19,526,336 (GRCm39)	missense	probably damaging	1.00
R1881:Cpne3	UTSW	4	19,535,266 (GRCm39)	missense	probably benign	0.03
R2007:Cpne3	UTSW	4	19,553,833 (GRCm39)	missense	probably damaging	1.00
R2147:Cpne3	UTSW	4	19,536,562 (GRCm39)	missense	probably benign
R2507:Cpne3	UTSW	4	19,553,871 (GRCm39)	missense	probably damaging	1.00
R4525:Cpne3	UTSW	4	19,523,206 (GRCm39)	missense	probably damaging	1.00
R4880:Cpne3	UTSW	4	19,540,827 (GRCm39)	missense	probably benign
R5219:Cpne3	UTSW	4	19,526,366 (GRCm39)	missense	probably damaging	1.00
R5518:Cpne3	UTSW	4	19,553,779 (GRCm39)	missense	probably benign	0.10
R5883:Cpne3	UTSW	4	19,552,314 (GRCm39)	missense	possibly damaging	0.67
R6850:Cpne3	UTSW	4	19,535,231 (GRCm39)	missense	possibly damaging	0.91
R6979:Cpne3	UTSW	4	19,533,098 (GRCm39)	missense	probably benign	0.01
R7395:Cpne3	UTSW	4	19,528,239 (GRCm39)	missense	probably damaging	0.96
R7948:Cpne3	UTSW	4	19,528,186 (GRCm39)	critical splice donor site	probably null
R8002:Cpne3	UTSW	4	19,528,232 (GRCm39)	missense	probably damaging	0.99
R8056:Cpne3	UTSW	4	19,532,426 (GRCm39)	missense	possibly damaging	0.60
R8099:Cpne3	UTSW	4	19,525,169 (GRCm39)	missense	possibly damaging	0.61
R8432:Cpne3	UTSW	4	19,535,227 (GRCm39)	missense	probably benign	0.26
R9029:Cpne3	UTSW	4	19,535,292 (GRCm39)	missense	possibly damaging	0.66
R9039:Cpne3	UTSW	4	19,540,770 (GRCm39)	missense	probably damaging	0.99
R9421:Cpne3	UTSW	4	19,536,561 (GRCm39)	missense	probably benign	0.33
R9425:Cpne3	UTSW	4	19,525,148 (GRCm39)	missense	probably damaging	1.00
R9604:Cpne3	UTSW	4	19,555,477 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGTGTTCAAAGCCCTTCATGTG -3'
(R):5'- ACCCGACCTGTCATGTATATAACTG -3'

Sequencing Primer
(F):5'- CAGAGAAATGATTAGTAAAAGCAAGC -3'
(R):5'- GACCTGTCATGTATATAACTGTTTCC -3'

Posted On

2020-10-20