Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Cpne9'

597606

Institutional Source

Beutler Lab

Gene Symbol

Cpne9

Ensembl Gene

ENSMUSG00000030270

Gene Name

copine family member IX

Synonyms

A730016F12Rik

MMRRC Submission

045813-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R7757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113259244-113282532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113261406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 121 (V121M)

Ref Sequence

ENSEMBL: ENSMUSP00000044416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041203] [ENSMUST00000113146] [ENSMUST00000129883] [ENSMUST00000130191] [ENSMUST00000134945]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041203
AA Change: V121M

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044416
Gene: ENSMUSG00000030270
AA Change: V121M

Domain	Start	End	E-Value	Type
C2	14	122	2.12e-10	SMART
C2	143	257	5.15e-9	SMART
VWA	297	495	4.4e-10	SMART
low complexity region	536	553	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113146

SMART Domains

Protein: ENSMUSP00000108771
Gene: ENSMUSG00000030269

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
Blast:C2	605	647	2e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000129883

SMART Domains

Protein: ENSMUSP00000114575
Gene: ENSMUSG00000030269

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130191

Predicted Effect

probably benign
Transcript: ENSMUST00000134945

SMART Domains

Protein: ENSMUSP00000118001
Gene: ENSMUSG00000030269

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Blast:C2	221	256	3e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148523

SMART Domains

Protein: ENSMUSP00000115808
Gene: ENSMUSG00000030269

Domain	Start	End	E-Value	Type
Pfam:Myotub-related	1	102	4.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151149

Meta Mutation Damage Score

0.1795

Coding Region Coverage

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

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	A	12: 71,236,187 (GRCm39)	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 155,845,351 (GRCm39)	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166 (GRCm38)	N659S	probably damaging	Het
Agk	T	C	6: 40,353,212 (GRCm39)	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,664,666 (GRCm39)		probably null	Het
Bche	T	A	3: 73,608,454 (GRCm39)	D324V	probably damaging	Het
Bsn	A	G	9: 107,991,939 (GRCm39)	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,582,246 (GRCm39)	L120P	probably damaging	Het
Cep290	T	A	10: 100,399,296 (GRCm39)	S2273T	probably benign	Het
Ckap4	T	C	10: 84,364,331 (GRCm39)	E244G	probably damaging	Het
Clcn7	T	C	17: 25,375,796 (GRCm39)	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,234,780 (GRCm39)	T103S	possibly damaging	Het
Cplane1	A	T	15: 8,281,711 (GRCm39)	E2850V	unknown	Het
Csmd2	T	A	4: 128,377,249 (GRCm39)	I2043N		Het
Disc1	A	G	8: 125,814,243 (GRCm39)	T36A	probably benign	Het
Disp2	T	C	2: 118,621,391 (GRCm39)	Y708H	probably damaging	Het
Dnah3	A	G	7: 119,670,793 (GRCm39)	V635A	probably benign	Het
Dnah3	A	T	7: 119,570,438 (GRCm39)		probably null	Het
Dync1li1	A	G	9: 114,538,345 (GRCm39)	H234R	possibly damaging	Het
Egfr	T	C	11: 16,839,966 (GRCm39)	V660A	possibly damaging	Het
Epb42	T	C	2: 120,858,200 (GRCm39)	R253G	possibly damaging	Het
Fat2	T	A	11: 55,202,247 (GRCm39)	T276S	probably benign	Het
Fcho2	A	G	13: 98,901,011 (GRCm39)		probably null	Het
Ginm1	A	T	10: 7,655,119 (GRCm39)	I41N	probably damaging	Het
Gm4744	A	G	6: 40,927,367 (GRCm39)		probably benign	Het
Gm49368	C	T	7: 127,711,398 (GRCm39)	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,207 (GRCm39)	I297F	probably benign	Het
Gprc5a	T	A	6: 135,056,342 (GRCm39)	I263N	possibly damaging	Het
Gys2	A	T	6: 142,400,177 (GRCm39)	S345T	probably benign	Het
Hk2	T	C	6: 82,719,896 (GRCm39)	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,579,290 (GRCm39)	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,400,965 (GRCm39)	D455A	probably benign	Het
Irs2	T	A	8: 11,056,522 (GRCm39)	K637*	probably null	Het
Jak2	T	C	19: 29,260,946 (GRCm39)	V314A	probably benign	Het
Mei1	C	T	15: 81,966,824 (GRCm39)		probably benign	Het
Mill1	T	C	7: 17,996,391 (GRCm39)	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884 (GRCm39)		probably null	Het
Mup8	C	A	4: 60,220,332 (GRCm39)	Q133H	probably benign	Het
Mup8	T	A	4: 60,220,333 (GRCm39)	Q133L	probably benign	Het
Mycbp2	A	T	14: 103,429,055 (GRCm39)	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,296,609 (GRCm39)	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,755,191 (GRCm39)	R8S	probably benign	Het
Nrcam	C	T	12: 44,596,681 (GRCm39)	Q25*	probably null	Het
Nudt16	A	C	9: 105,008,760 (GRCm39)	M47R	probably damaging	Het
Nup62	T	C	7: 44,478,419 (GRCm39)	S145P	probably benign	Het
Or10d1	A	G	9: 39,483,761 (GRCm39)	W265R	probably benign	Het
Or4c117	T	C	2: 88,955,333 (GRCm39)	I247M	possibly damaging	Het
Osbpl1a	A	T	18: 13,066,657 (GRCm39)	V34D	probably benign	Het
Otogl	T	A	10: 107,712,782 (GRCm39)	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,582,887 (GRCm39)	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,136,300 (GRCm39)		probably benign	Het
Pkhd1	A	G	1: 20,632,639 (GRCm39)	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,734,187 (GRCm39)	H480R	probably benign	Het
Rnf216	T	A	5: 143,065,991 (GRCm39)	K532N	probably damaging	Het
Schip1	C	A	3: 68,525,028 (GRCm39)	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,233 (GRCm39)	E117V	possibly damaging	Het
Septin11	A	T	5: 93,319,323 (GRCm39)		probably null	Het
Shprh	A	T	10: 11,037,924 (GRCm39)	E420V	probably benign	Het
Ska1	T	A	18: 74,330,044 (GRCm39)	H232L	probably benign	Het
Slc36a4	A	G	9: 15,630,956 (GRCm39)	N25S	possibly damaging	Het
Slitrk3	G	A	3: 72,958,172 (GRCm39)	T200M	probably damaging	Het
Smad2	C	T	18: 76,421,084 (GRCm39)	H138Y	probably benign	Het
Snx21	T	C	2: 164,628,085 (GRCm39)	S34P	probably damaging	Het
Sos2	A	G	12: 69,695,359 (GRCm39)	V126A	probably damaging	Het
Srcap	C	T	7: 127,129,966 (GRCm39)	T596I	probably damaging	Het
Stk31	T	G	6: 49,383,877 (GRCm39)		probably null	Het
Stox1	T	C	10: 62,499,743 (GRCm39)	D939G	probably damaging	Het
Syne2	G	T	12: 76,108,553 (GRCm39)	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,667,684 (GRCm39)	N88K	possibly damaging	Het
Tll2	A	T	19: 41,084,447 (GRCm39)	V677E	probably damaging	Het
Ttn	T	C	2: 76,748,834 (GRCm39)	T4072A	probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341 (GRCm39)		probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330 (GRCm39)		probably benign	Het
Vmn2r43	A	T	7: 8,258,253 (GRCm39)	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,135,205 (GRCm39)	G204*	probably null	Het

Other mutations in Cpne9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01472:Cpne9	APN	6	113,269,983 (GRCm39)	missense	possibly damaging	0.54
IGL02318:Cpne9	APN	6	113,270,699 (GRCm39)	missense	possibly damaging	0.74
IGL02800:Cpne9	APN	6	113,279,034 (GRCm39)	missense	probably benign	0.40
IGL02819:Cpne9	APN	6	113,277,624 (GRCm39)	missense	probably damaging	0.99
IGL03111:Cpne9	APN	6	113,277,571 (GRCm39)	missense	possibly damaging	0.79
measured	UTSW	6	113,266,974 (GRCm39)	missense	probably damaging	0.98
prudence	UTSW	6	113,261,406 (GRCm39)	missense	possibly damaging	0.69
PIT4366001:Cpne9	UTSW	6	113,271,707 (GRCm39)	missense	probably damaging	1.00
R0145:Cpne9	UTSW	6	113,277,562 (GRCm39)	missense	probably damaging	0.97
R0319:Cpne9	UTSW	6	113,271,654 (GRCm39)	missense	probably damaging	1.00
R0514:Cpne9	UTSW	6	113,266,974 (GRCm39)	missense	probably damaging	0.98
R0586:Cpne9	UTSW	6	113,272,024 (GRCm39)	missense	probably damaging	0.96
R0594:Cpne9	UTSW	6	113,267,361 (GRCm39)	splice site	probably benign
R1464:Cpne9	UTSW	6	113,271,698 (GRCm39)	missense	probably damaging	1.00
R1464:Cpne9	UTSW	6	113,271,698 (GRCm39)	missense	probably damaging	1.00
R4184:Cpne9	UTSW	6	113,259,418 (GRCm39)	unclassified	probably benign
R4243:Cpne9	UTSW	6	113,259,984 (GRCm39)	unclassified	probably benign
R4256:Cpne9	UTSW	6	113,259,984 (GRCm39)	unclassified	probably benign
R4258:Cpne9	UTSW	6	113,259,984 (GRCm39)	unclassified	probably benign
R4412:Cpne9	UTSW	6	113,266,962 (GRCm39)	missense	possibly damaging	0.78
R4690:Cpne9	UTSW	6	113,279,016 (GRCm39)	missense	probably damaging	1.00
R5062:Cpne9	UTSW	6	113,281,449 (GRCm39)	missense	probably damaging	0.99
R5249:Cpne9	UTSW	6	113,270,034 (GRCm39)	splice site	probably benign
R5437:Cpne9	UTSW	6	113,281,591 (GRCm39)	unclassified	probably benign
R5523:Cpne9	UTSW	6	113,267,192 (GRCm39)	missense	probably damaging	1.00
R5979:Cpne9	UTSW	6	113,270,710 (GRCm39)	missense	probably benign	0.44
R6207:Cpne9	UTSW	6	113,271,734 (GRCm39)	missense	possibly damaging	0.88
R6849:Cpne9	UTSW	6	113,279,079 (GRCm39)	missense	probably damaging	0.98
R6989:Cpne9	UTSW	6	113,277,544 (GRCm39)	missense	possibly damaging	0.95
R7376:Cpne9	UTSW	6	113,266,974 (GRCm39)	missense	probably damaging	0.98
R7524:Cpne9	UTSW	6	113,279,025 (GRCm39)	missense	probably damaging	1.00
R7631:Cpne9	UTSW	6	113,279,079 (GRCm39)	missense	possibly damaging	0.72
R7689:Cpne9	UTSW	6	113,266,965 (GRCm39)	missense	probably damaging	1.00
R8134:Cpne9	UTSW	6	113,272,003 (GRCm39)	missense	probably benign	0.16
R8418:Cpne9	UTSW	6	113,260,398 (GRCm39)	missense	possibly damaging	0.95
R8810:Cpne9	UTSW	6	113,281,506 (GRCm39)	missense	probably damaging	0.99
R8833:Cpne9	UTSW	6	113,281,473 (GRCm39)	missense	probably damaging	1.00
R9174:Cpne9	UTSW	6	113,279,032 (GRCm39)	missense	probably damaging	1.00
R9503:Cpne9	UTSW	6	113,271,732 (GRCm39)	missense	possibly damaging	0.67
R9520:Cpne9	UTSW	6	113,281,413 (GRCm39)	missense	probably damaging	1.00
R9738:Cpne9	UTSW	6	113,267,401 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACCGGAAAGAGTTTGGTTGG -3'
(R):5'- GCCTGAGATTGATTTGAGCAG -3'

Sequencing Primer
(F):5'- AAAACACGTGGGGCTGTCATTTAC -3'
(R):5'- TTGAGCAGAGATAGGACTTTCTAG -3'

Posted On

2019-11-26