Mutagenetix > Incidental Mutation

Incidental Mutation 'R4321:Cpped1'

323847

Institutional Source

Beutler Lab

Gene Symbol

Cpped1

Ensembl Gene

ENSMUSG00000065979

Gene Name

calcineurin-like phosphoesterase domain containing 1

Synonyms

C530044N13Rik

MMRRC Submission

041662-MU

Accession Numbers

Essential gene?

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

Stock #

R4321 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11621585-11727309 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11705610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 65 (T65A)

Ref Sequence

ENSEMBL: ENSMUSP00000119989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073371] [ENSMUST00000096272] [ENSMUST00000121750] [ENSMUST00000127972]

AlphaFold

Q8BFS6

Predicted Effect

probably benign
Transcript: ENSMUST00000073371
AA Change: T41A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000089104
Gene: ENSMUSG00000065979
AA Change: T41A

Domain	Start	End	E-Value	Type
low complexity region	97	109	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000096272
AA Change: T41A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000093992
Gene: ENSMUSG00000065979
AA Change: T41A

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: T27A

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112587
Gene: ENSMUSG00000065979
AA Change: T27A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127972
AA Change: T65A

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119989
Gene: ENSMUSG00000065979
AA Change: T65A

Domain	Start	End	E-Value	Type
Pfam:Metallophos	57	239	2e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145169

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (56/59)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,100,887 (GRCm39)	D420V	probably damaging	Het
Als2	A	C	1: 59,206,613 (GRCm39)		probably benign	Het
Ankrd9	A	G	12: 110,943,074 (GRCm39)	L287P	probably damaging	Het
Aoc1l1	T	A	6: 48,953,456 (GRCm39)	D460E	probably damaging	Het
Bbof1	A	T	12: 84,473,902 (GRCm39)	R411*	probably null	Het
Camta2	A	T	11: 70,569,151 (GRCm39)	L598Q	probably damaging	Het
Ccdc178	T	A	18: 22,166,600 (GRCm39)	K530*	probably null	Het
Cep85	G	A	4: 133,859,596 (GRCm39)	T689I	probably damaging	Het
Clvs1	T	C	4: 9,282,029 (GRCm39)		probably benign	Het
Daxx	T	C	17: 34,130,380 (GRCm39)	Y132H	possibly damaging	Het
Dock7	T	C	4: 98,960,691 (GRCm39)	E279G	probably damaging	Het
Dok7	A	T	5: 35,237,141 (GRCm39)		probably benign	Het
Dthd1	A	T	5: 62,976,033 (GRCm39)	I236F	probably damaging	Het
Egf	A	G	3: 129,499,783 (GRCm39)	C285R	probably damaging	Het
Epha4	T	A	1: 77,483,850 (GRCm39)		probably null	Het
Fbxw13	A	C	9: 109,010,503 (GRCm39)	I378M	probably benign	Het
Gaa	A	T	11: 119,160,963 (GRCm39)	N2I	probably benign	Het
Gad1	G	A	2: 70,420,174 (GRCm39)	D353N	probably damaging	Het
Ggcx	A	G	6: 72,405,803 (GRCm39)	S545G	probably benign	Het
Gm2663	G	T	6: 40,974,530 (GRCm39)	Q87K	probably damaging	Het
Golga4	A	G	9: 118,385,503 (GRCm39)	E847G	probably damaging	Het
Hipk3	C	A	2: 104,276,916 (GRCm39)	V388L	probably damaging	Het
Ibtk	T	C	9: 85,617,125 (GRCm39)	D149G	possibly damaging	Het
Ice1	A	T	13: 70,751,229 (GRCm39)	V1619E	possibly damaging	Het
Itpr3	A	G	17: 27,330,948 (GRCm39)	E1752G	probably benign	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Kprp	G	A	3: 92,732,163 (GRCm39)	R296W	probably damaging	Het
Lama1	G	A	17: 68,078,078 (GRCm39)	G1171D	probably benign	Het
Lonp2	A	G	8: 87,392,356 (GRCm39)	H474R	probably damaging	Het
Mark1	G	T	1: 184,630,871 (GRCm39)	D746E	possibly damaging	Het
Mlxipl	C	T	5: 135,164,304 (GRCm39)	Q167*	probably null	Het
Myo3a	A	T	2: 22,271,966 (GRCm39)	N162Y	probably damaging	Het
Myo5a	T	G	9: 75,124,812 (GRCm39)	V1787G	probably damaging	Het
Myorg	C	T	4: 41,498,767 (GRCm39)	V288I	probably benign	Het
Nrxn3	A	T	12: 90,166,005 (GRCm39)	E227V	probably damaging	Het
Orc1	G	A	4: 108,445,973 (GRCm39)	M30I	probably benign	Het
Pira13	A	G	7: 3,825,754 (GRCm39)	S372P	possibly damaging	Het
Rufy2	A	G	10: 62,818,459 (GRCm39)	D5G	probably damaging	Het
Rufy4	A	T	1: 74,171,943 (GRCm39)	D222V	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Septin1	G	A	7: 126,816,200 (GRCm39)	P77S	probably damaging	Het
Slamf1	T	C	1: 171,602,694 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,179,798 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,679,429 (GRCm39)	I636K	possibly damaging	Het
Tshz2	T	A	2: 169,727,465 (GRCm39)	I218N	possibly damaging	Het
Txnl1	T	C	18: 63,812,561 (GRCm39)	T78A	possibly damaging	Het
Ulk4	T	G	9: 120,903,062 (GRCm39)	R1138S	probably benign	Het
Vamp8	A	C	6: 72,362,536 (GRCm39)	V88G	possibly damaging	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	Het
Zfp850	A	C	7: 27,688,825 (GRCm39)	F461C	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
IGL02448:Cpped1	APN	16	11,623,253 (GRCm39)	missense	probably benign	0.30
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
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

Predicted Primers

PCR Primer
(F):5'- AAAGGCCCTTCATGACAGCC -3'
(R):5'- ATCAAAATCCTCTAGACAGTGACAG -3'

Sequencing Primer
(F):5'- TTCATGACAGCCCCCGG -3'
(R):5'- TCCTCTAGACAGTGACAGGAAAATG -3'

Posted On

2015-06-24