Mutagenetix > Incidental Mutation

Incidental Mutation 'R9082:Cpne2'

690077

Institutional Source

Beutler Lab

Gene Symbol

Cpne2

Ensembl Gene

ENSMUSG00000034361

Gene Name

copine II

Synonyms

3322401K10Rik

MMRRC Submission

068901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R9082 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95259618-95297159 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 95295237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 441 (I441L)

Ref Sequence

ENSEMBL: ENSMUSP00000045755 (fasta)

Gene Model

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

AlphaFold

P59108

Predicted Effect

probably benign
Transcript: ENSMUST00000048653
AA Change: I441L

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000045755
Gene: ENSMUSG00000034361
AA Change: I441L

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 benign
Transcript: ENSMUST00000109537
AA Change: I440L

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105163
Gene: ENSMUSG00000034361
AA Change: I440L

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

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afm	G	T	5: 90,698,095 (GRCm39)	C499F	probably damaging	Het
Agap2	A	G	10: 126,918,911 (GRCm39)	E429G	probably damaging	Het
Ankrd22	A	T	19: 34,126,662 (GRCm39)	V56D	probably damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Ccdc168	G	A	1: 44,099,874 (GRCm39)	S408L	unknown	Het
Cdk4	T	A	10: 126,900,732 (GRCm39)	L128Q	probably damaging	Het
Clu	T	C	14: 66,217,153 (GRCm39)	S329P	probably damaging	Het
Cntnap5c	A	G	17: 58,637,335 (GRCm39)	N1071D	probably damaging	Het
Col5a1	T	C	2: 27,852,122 (GRCm39)	S540P	possibly damaging	Het
Ctu2	T	C	8: 123,203,952 (GRCm39)	S87P	probably damaging	Het
Dhodh	G	T	8: 110,322,734 (GRCm39)	N211K	probably damaging	Het
Dtnb	G	A	12: 3,822,740 (GRCm39)	A570T	possibly damaging	Het
Eif3m	A	T	2: 104,836,217 (GRCm39)	V209E	probably damaging	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fktn	T	C	4: 53,720,010 (GRCm39)	V8A	unknown	Het
Ftdc1	T	C	16: 58,437,294 (GRCm39)	R5G	probably benign	Het
Gcnt1	G	T	19: 17,307,559 (GRCm39)	S55R	probably benign	Het
Gm11011	G	T	2: 169,426,424 (GRCm39)	P63Q		Het
Grk5	T	C	19: 61,034,567 (GRCm39)	I105T	possibly damaging	Het
Gskip	G	A	12: 105,665,009 (GRCm39)	S16N	probably benign	Het
Gys1	C	A	7: 45,088,917 (GRCm39)	N169K	probably benign	Het
Itgb2	T	C	10: 77,384,503 (GRCm39)	L208P	probably damaging	Het
Kcnh7	A	G	2: 62,607,878 (GRCm39)	C568R	probably damaging	Het
Krt84	C	T	15: 101,440,814 (GRCm39)	G126D	unknown	Het
Lrrc26	T	A	2: 25,180,344 (GRCm39)	F115Y	probably damaging	Het
Mul1	T	C	4: 138,166,945 (GRCm39)	I338T	probably damaging	Het
Ncam2	T	A	16: 81,412,660 (GRCm39)	L716H	probably damaging	Het
Ncoa1	C	T	12: 4,346,106 (GRCm39)	V414I	probably benign	Het
Negr1	C	A	3: 156,774,876 (GRCm39)	C197*	probably null	Het
Nisch	G	T	14: 30,899,331 (GRCm39)	A438E	unknown	Het
Nsun5	T	C	5: 135,402,828 (GRCm39)	L174P	probably damaging	Het
Obscn	A	T	11: 58,903,612 (GRCm39)	V7454E	probably benign	Het
Optn	A	C	2: 5,059,451 (GRCm39)	N22K	probably damaging	Het
Or5k15	C	T	16: 58,709,834 (GRCm39)	V250M	probably damaging	Het
Or6d13	G	A	6: 116,517,969 (GRCm39)	C185Y	probably damaging	Het
Pcdhb22	A	G	18: 37,653,047 (GRCm39)	N248S	probably damaging	Het
Pcnx2	A	C	8: 126,613,753 (GRCm39)	L566R	probably damaging	Het
Pdlim5	C	T	3: 142,009,163 (GRCm39)	V191I	possibly damaging	Het
Pdzrn3	C	T	6: 101,146,094 (GRCm39)		probably null	Het
Peak1	A	T	9: 56,165,504 (GRCm39)	I808N	probably benign	Het
Pomt1	A	C	2: 32,142,973 (GRCm39)	Y617S	probably damaging	Het
Ptch2	G	A	4: 116,962,297 (GRCm39)		probably null	Het
Rptn	A	G	3: 93,302,928 (GRCm39)	H87R	possibly damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Slc37a4	A	G	9: 44,313,016 (GRCm39)	T333A	probably benign	Het
Slc5a7	A	G	17: 54,604,139 (GRCm39)	V9A	probably benign	Het
Slc6a20a	A	G	9: 123,507,832 (GRCm39)	F14L	possibly damaging	Het
Smg7	A	T	1: 152,715,928 (GRCm39)	M1062K	probably damaging	Het
Tsc22d4	T	C	5: 137,749,509 (GRCm39)	Y262H	probably damaging	Het
Vmn2r83	C	T	10: 79,304,894 (GRCm39)	H35Y	probably benign	Het
Zc3h13	CAGAGACCGGGACAGAAGGAGAGAC	CAGAGAC	14: 75,569,381 (GRCm39)		probably benign	Het
Zeb1	C	T	18: 5,772,557 (GRCm39)	H949Y	probably damaging	Het
Zfp184	T	A	13: 22,143,636 (GRCm39)	H447Q	probably damaging	Het
Zfp551	T	C	7: 12,151,004 (GRCm39)	E135G	probably damaging	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
R7745:Cpne2	UTSW	8	95,295,312 (GRCm39)	missense	probably damaging	1.00
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
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'- ATGTGTTCCTGTGCAAGCCTG -3'
(R):5'- GCACGAACTGCACGATATCTC -3'

Sequencing Primer
(F):5'- CTCAGCAGATTAAGTCTTAGTGGCC -3'
(R):5'- ATATCTCGGGCCGCCTC -3'

Posted On

2021-11-19