Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02448:Cpped1'

293619

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpped1

Ensembl Gene

ENSMUSG00000065979

Gene Name

calcineurin-like phosphoesterase domain containing 1

Synonyms

C530044N13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02448

Quality Score

Status

Chromosome

Chromosomal Location

11621585-11727309 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11623253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 289 (E289K)

Ref Sequence

ENSEMBL: ENSMUSP00000112587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096272] [ENSMUST00000121750]

AlphaFold

Q8BFS6

Predicted Effect

probably benign
Transcript: ENSMUST00000096272
AA Change: E303K

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093992
Gene: ENSMUSG00000065979
AA Change: E303K

Domain	Start	End	E-Value	Type
Pfam:Metallophos	33	250	4.6e-14	PFAM
Pfam:Metallophos_2	63	285	6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121750
AA Change: E289K

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112587
Gene: ENSMUSG00000065979
AA Change: E289K

Domain	Start	End	E-Value	Type
Pfam:Metallophos	25	236	1e-14	PFAM
Pfam:Metallophos_2	45	271	6.8e-12	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl6	T	A	9: 20,786,866 (GRCm39)	I286F	probably damaging	Het
Arhgap5	A	G	12: 52,609,123 (GRCm39)	E1366G	probably damaging	Het
Blzf1	T	A	1: 164,123,350 (GRCm39)	I326F	possibly damaging	Het
Cc2d2a	A	C	5: 43,840,547 (GRCm39)		probably benign	Het
Cdc37	T	C	9: 21,051,147 (GRCm39)	E366G	possibly damaging	Het
Cdh17	T	C	4: 11,784,680 (GRCm39)	S279P	probably benign	Het
Cdh18	T	C	15: 23,173,875 (GRCm39)	S30P	probably benign	Het
Cep192	A	G	18: 68,002,518 (GRCm39)	T2238A	probably benign	Het
Ctsq	A	T	13: 61,184,044 (GRCm39)	Y293N	probably damaging	Het
Epb41l2	A	G	10: 25,369,493 (GRCm39)	N20S	possibly damaging	Het
Gcc2	T	A	10: 58,128,393 (GRCm39)	C1304*	probably null	Het
Hsd3b5	C	T	3: 98,529,447 (GRCm39)	G61E	probably damaging	Het
Igfals	A	T	17: 25,099,161 (GRCm39)	N84I	probably damaging	Het
Irs2	A	T	8: 11,057,862 (GRCm39)	V190D	probably benign	Het
Kank1	T	A	19: 25,388,739 (GRCm39)	L804Q	probably damaging	Het
Kcnj2	G	T	11: 110,963,108 (GRCm39)	V167L	probably benign	Het
Kif20a	T	C	18: 34,761,507 (GRCm39)	V300A	possibly damaging	Het
Kmt2d	T	C	15: 98,741,991 (GRCm39)		probably benign	Het
Moxd1	T	C	10: 24,158,617 (GRCm39)	F424L	probably damaging	Het
Mpeg1	A	C	19: 12,439,973 (GRCm39)	D477A	probably benign	Het
Mtmr10	A	T	7: 63,957,898 (GRCm39)	Y166F	probably damaging	Het
Muc5b	T	G	7: 141,422,226 (GRCm39)	I4454S	possibly damaging	Het
Ntng1	G	A	3: 109,841,875 (GRCm39)		probably benign	Het
Or52r1b	T	C	7: 102,691,604 (GRCm39)	I306T	possibly damaging	Het
Or7e175	T	A	9: 20,048,937 (GRCm39)	L175*	probably null	Het
Pex11a	A	T	7: 79,387,208 (GRCm39)		probably null	Het
Plcg2	A	G	8: 118,333,960 (GRCm39)	D911G	probably benign	Het
Rc3h2	T	C	2: 37,279,817 (GRCm39)	T471A	probably benign	Het
Rif1	T	A	2: 52,006,708 (GRCm39)	L2214Q	probably damaging	Het
Rtel1	T	A	2: 180,977,830 (GRCm39)	S120T	probably benign	Het
Ryr1	A	G	7: 28,804,491 (GRCm39)		probably benign	Het
Sh3yl1	G	T	12: 30,989,666 (GRCm39)	A129S	probably damaging	Het
Slc25a10	A	G	11: 120,387,879 (GRCm39)	T191A	probably benign	Het
Slc8b1	T	C	5: 120,663,856 (GRCm39)	S359P	probably damaging	Het
Srf	T	C	17: 46,866,349 (GRCm39)	T136A	possibly damaging	Het
Stx1a	G	T	5: 135,052,473 (GRCm39)		probably benign	Het
Taf1d	T	A	9: 15,221,690 (GRCm39)	C224*	probably null	Het
Tnik	A	G	3: 28,675,226 (GRCm39)	S700G	probably null	Het
Ttn	T	C	2: 76,773,331 (GRCm39)	H2357R	probably benign	Het
Ttn	T	C	2: 76,566,458 (GRCm39)	E28145G	probably damaging	Het
Ush1c	C	A	7: 45,858,561 (GRCm39)	V576F	possibly damaging	Het
Xpc	T	C	6: 91,492,726 (GRCm39)	E19G	probably benign	Het
Zdhhc25	G	A	15: 88,485,045 (GRCm39)	V127M	probably damaging	Het

Other mutations in Cpped1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02221:Cpped1	APN	16	11,646,392 (GRCm39)	missense	probably damaging	1.00
IGL03048:Cpped1	UTSW	16	11,646,339 (GRCm39)	missense	probably benign	0.23
R0725:Cpped1	UTSW	16	11,646,314 (GRCm39)	missense	probably damaging	0.97
R2084:Cpped1	UTSW	16	11,646,365 (GRCm39)	missense	probably damaging	1.00
R2276:Cpped1	UTSW	16	11,712,745 (GRCm39)	critical splice donor site	probably null
R3702:Cpped1	UTSW	16	11,646,304 (GRCm39)	missense	probably damaging	1.00
R4321:Cpped1	UTSW	16	11,705,610 (GRCm39)	missense	probably benign	0.35
R4407:Cpped1	UTSW	16	11,623,285 (GRCm39)	missense	probably damaging	0.96
R4421:Cpped1	UTSW	16	11,623,221 (GRCm39)	makesense	probably null
R4672:Cpped1	UTSW	16	11,623,238 (GRCm39)	nonsense	probably null
R4704:Cpped1	UTSW	16	11,703,493 (GRCm39)	intron	probably benign
R4928:Cpped1	UTSW	16	11,646,143 (GRCm39)	missense	probably damaging	1.00
R5647:Cpped1	UTSW	16	11,646,010 (GRCm39)	unclassified	probably benign
R7260:Cpped1	UTSW	16	11,646,327 (GRCm39)	missense	possibly damaging	0.90
R7610:Cpped1	UTSW	16	11,712,742 (GRCm39)	splice site	probably null
R8008:Cpped1	UTSW	16	11,646,260 (GRCm39)	missense	probably damaging	1.00
R8324:Cpped1	UTSW	16	11,623,340 (GRCm39)	missense	probably benign	0.00
R8356:Cpped1	UTSW	16	11,712,793 (GRCm39)	nonsense	probably null
R9100:Cpped1	UTSW	16	11,646,419 (GRCm39)	missense
X0017:Cpped1	UTSW	16	11,646,156 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16