Mutagenetix > Incidental Mutation

Incidental Mutation 'R8008:Cpped1'

616764

Institutional Source

Beutler Lab

Gene Symbol

Cpped1

Ensembl Gene

ENSMUSG00000065979

Gene Name

calcineurin-like phosphoesterase domain containing 1

Synonyms

C530044N13Rik

MMRRC Submission

046048-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11621585-11727309 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11646260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 164 (N164S)

Ref Sequence

ENSEMBL: ENSMUSP00000093992 (fasta)

Gene Model

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

AlphaFold

Q8BFS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000096272
AA Change: N164S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093992
Gene: ENSMUSG00000065979
AA Change: N164S

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 damaging
Transcript: ENSMUST00000121750
AA Change: N150S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112587
Gene: ENSMUSG00000065979
AA Change: N150S

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 damaging
Transcript: ENSMUST00000127972
AA Change: N188S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119989
Gene: ENSMUSG00000065979
AA Change: N188S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,429,234 (GRCm39)	I774F	probably benign	Het
Alpi	A	G	1: 87,026,384 (GRCm39)	S536P	unknown	Het
Ankar	A	G	1: 72,705,643 (GRCm39)	V789A	possibly damaging	Het
Atp5f1b	C	A	10: 127,919,277 (GRCm39)	Q28K	unknown	Het
Brpf1	T	C	6: 113,296,050 (GRCm39)	V781A	probably benign	Het
Cd177	G	A	7: 24,451,774 (GRCm39)	S414L	not run	Het
Cimip3	T	A	17: 47,747,661 (GRCm39)	E28V	probably damaging	Het
Clca3b	T	A	3: 144,550,370 (GRCm39)	T192S	probably benign	Het
Coro2a	A	T	4: 46,551,349 (GRCm39)	S119T	probably damaging	Het
Crybg2	T	A	4: 133,818,415 (GRCm39)	N1390K	probably damaging	Het
Epn2	C	T	11: 61,437,492 (GRCm39)	A27T	probably damaging	Het
Esp34	T	C	17: 38,870,490 (GRCm39)	F128S	possibly damaging	Het
Evpl	T	A	11: 116,121,298 (GRCm39)	N410Y	probably null	Het
Flnb	A	G	14: 7,892,155 (GRCm38)	Y608C	probably damaging	Het
Fpr3	T	C	17: 18,191,715 (GRCm39)	S329P	probably benign	Het
Frem2	T	A	3: 53,560,331 (GRCm39)	N1392I	probably damaging	Het
Garin2	T	A	12: 78,761,817 (GRCm39)	D160E	probably benign	Het
Gpi1	G	T	7: 33,917,726 (GRCm39)	N249K	probably damaging	Het
Gpr87	T	C	3: 59,087,466 (GRCm39)	N13S	probably benign	Het
Gys2	T	C	6: 142,400,243 (GRCm39)	T323A	probably damaging	Het
Iqgap3	T	C	3: 88,016,770 (GRCm39)	I1084T	probably damaging	Het
Lrfn4	C	G	19: 4,663,565 (GRCm39)	G323A	probably benign	Het
Lrrc4c	A	T	2: 97,460,594 (GRCm39)	S407C	possibly damaging	Het
Map3k20	A	T	2: 72,268,613 (GRCm39)	Q540L	probably benign	Het
Myom1	T	C	17: 71,407,057 (GRCm39)	V1158A	probably benign	Het
Ncor2	T	C	5: 125,144,983 (GRCm39)	D378G	unknown	Het
Nhsl1	T	A	10: 18,284,186 (GRCm39)	D42E	probably damaging	Het
Nr0b2	C	A	4: 133,283,339 (GRCm39)	A192E	probably benign	Het
Nt5c1b	A	G	12: 10,425,000 (GRCm39)	D182G	possibly damaging	Het
Or12d14-ps1	T	C	17: 37,673,265 (GRCm39)	S86P	probably damaging	Het
Or4c115	A	T	2: 88,928,059 (GRCm39)	C71S	probably benign	Het
Or5b119	T	C	19: 13,457,170 (GRCm39)	T131A	probably benign	Het
Or5k15	T	C	16: 58,710,251 (GRCm39)	T111A	probably benign	Het
Or8b12	A	T	9: 37,658,089 (GRCm39)	I220F	probably damaging	Het
Pepd	A	G	7: 34,721,126 (GRCm39)	N250S	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Pmp22	C	T	11: 63,049,233 (GRCm39)	R159C	probably damaging	Het
Pou3f1	C	T	4: 124,552,764 (GRCm39)	A422V	unknown	Het
Rab11fip3	A	G	17: 26,286,956 (GRCm39)	L399P	probably damaging	Het
Rragc	A	G	4: 123,829,340 (GRCm39)	D352G	probably damaging	Het
Ryr2	A	G	13: 11,671,980 (GRCm39)	V3420A	probably benign	Het
Sez6	T	A	11: 77,864,082 (GRCm39)	Y521*	probably null	Het
Smc4	T	C	3: 68,914,645 (GRCm39)	V86A	probably damaging	Het
Stap2	T	A	17: 56,304,790 (GRCm39)	M331L	probably benign	Het
Syt8	G	A	7: 141,992,259 (GRCm39)	R89H	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Trim21	G	T	7: 102,209,183 (GRCm39)	T280K	probably benign	Het
Trim36	C	A	18: 46,305,556 (GRCm39)	V476F	probably benign	Het
Troap	G	T	15: 98,973,511 (GRCm39)	R56L	probably benign	Het
Ttn	A	T	2: 76,667,130 (GRCm39)	I11492K	unknown	Het
Tuft1	T	C	3: 94,521,440 (GRCm39)	T390A	probably damaging	Het
Ucp1	T	C	8: 84,020,640 (GRCm39)	I150T	probably benign	Het
Usp17lb	A	T	7: 104,490,481 (GRCm39)	C149S	possibly damaging	Het
Vmn1r159	A	T	7: 22,542,665 (GRCm39)	N122K	possibly damaging	Het
Vmn1r237	T	C	17: 21,534,456 (GRCm39)	C60R	probably damaging	Het
Wdr12	A	T	1: 60,128,494 (GRCm39)	Y85*	probably null	Het
Wdr3	T	C	3: 100,062,252 (GRCm39)	D221G	probably benign	Het
Wdr97	G	A	15: 76,244,832 (GRCm39)	E1125K		Het
Zan	T	C	5: 137,403,624 (GRCm39)	E3974G	unknown	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
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
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'- CTTACGGACGGTCTTAGTGAG -3'
(R):5'- TCTGTAGGAACTCCATGGCG -3'

Sequencing Primer
(F):5'- AGGTTGAAGTAGTCGTCATCTTCATC -3'
(R):5'- TCCATGGCGGCAAGAAC -3'

Posted On

2020-01-23