Mutagenetix > Incidental Mutation

Incidental Mutation 'R5417:Cped1'

427782

Institutional Source

Beutler Lab

Gene Symbol

Cped1

Ensembl Gene

ENSMUSG00000062980

Gene Name

cadherin-like and PC-esterase domain containing 1

Synonyms

A430107O13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21985915-22256403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22233579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 812 (I812V)

Ref Sequence

ENSEMBL: ENSMUSP00000111041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115383]

AlphaFold

B2RX70

Predicted Effect

probably null
Transcript: ENSMUST00000115383
AA Change: I812V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: I812V

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
low complexity region	133	147	N/A	INTRINSIC
Pfam:Cadherin-like	574	663	1e-9	PFAM
Pfam:PC-Esterase	753	1018	2e-26	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000137437
AA Change: I674V

SMART Domains

Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: I674V

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
low complexity region	133	147	N/A	INTRINSIC
Pfam:Cadherin-like	570	663	6.2e-12	PFAM
Pfam:PC-Esterase	753	963	1.6e-33	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	G	15: 76,619,301 (GRCm39)	V761A	possibly damaging	Het
Ccdc47	C	T	11: 106,101,176 (GRCm39)	R162Q	probably benign	Het
Cfap65	T	C	1: 74,964,259 (GRCm39)	E563G	probably damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Col17a1	C	A	19: 47,650,829 (GRCm39)	G732C	probably damaging	Het
Dennd1c	CCGCCCCTCGCTGACAGC	CC	17: 57,373,755 (GRCm39)		probably null	Het
Dgkg	A	T	16: 22,407,081 (GRCm39)	M168K	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dolpp1	T	C	2: 30,286,249 (GRCm39)	L18P	probably damaging	Het
Eif3e	A	T	15: 43,128,917 (GRCm39)	D234E	probably benign	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Fbxw10	G	A	11: 62,767,990 (GRCm39)	R942Q	possibly damaging	Het
Flvcr2	T	G	12: 85,793,965 (GRCm39)	F114V	probably damaging	Het
Gm14443	A	T	2: 175,011,796 (GRCm39)	C217S	probably damaging	Het
Gphb5	A	T	12: 75,459,746 (GRCm39)	V83E	possibly damaging	Het
Gpsm1	T	C	2: 26,214,045 (GRCm39)		probably null	Het
Grik4	A	G	9: 42,582,544 (GRCm39)	F134S	probably benign	Het
Ibsp	G	A	5: 104,458,335 (GRCm39)	E291K	possibly damaging	Het
Igfals	T	G	17: 25,099,290 (GRCm39)	L127R	probably damaging	Het
Igsf9b	CGGCCCCGGCCCAG	CGGCCCCGGCCCAGGCCCCGGCCCAG	9: 27,245,572 (GRCm39)		probably benign	Het
Iqcf3	T	A	9: 106,431,413 (GRCm39)	D63V	probably damaging	Het
Klc4	A	G	17: 46,942,957 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mapk8ip2	C	A	15: 89,341,642 (GRCm39)	D284E	probably benign	Het
Muc5b	A	T	7: 141,411,781 (GRCm39)	T1576S	unknown	Het
Nlrp3	G	A	11: 59,439,889 (GRCm39)	G489S	probably damaging	Het
Nr5a1	T	A	2: 38,598,098 (GRCm39)	Q233L	possibly damaging	Het
Nusap1	G	A	2: 119,477,624 (GRCm39)	V345I	probably damaging	Het
Or10q1	A	G	19: 13,727,217 (GRCm39)	H249R	probably benign	Het
Or4k51	A	G	2: 111,585,265 (GRCm39)	T224A	possibly damaging	Het
Or51aa2	A	T	7: 103,187,970 (GRCm39)	V157E	possibly damaging	Het
Oxr1	A	G	15: 41,683,767 (GRCm39)	T378A	probably benign	Het
Pcdhb12	T	C	18: 37,569,087 (GRCm39)	F78L	probably benign	Het
Pgm2l1	A	T	7: 99,921,583 (GRCm39)	I605L	probably benign	Het
Pik3c2g	A	G	6: 139,682,669 (GRCm39)	I17V	probably benign	Het
Prss39	A	G	1: 34,539,209 (GRCm39)	S150G	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scg3	T	A	9: 75,576,538 (GRCm39)	Y279F	probably benign	Het
Skic2	C	T	17: 35,065,574 (GRCm39)	V327I	probably damaging	Het
Srfbp1	T	C	18: 52,621,697 (GRCm39)	C253R	probably benign	Het
Tcirg1	C	T	19: 3,953,509 (GRCm39)		probably null	Het
Trim37	A	G	11: 87,057,505 (GRCm39)	Y313C	probably damaging	Het
Ttll9	A	T	2: 152,844,912 (GRCm39)	M427L	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubgcp5	A	G	7: 55,475,409 (GRCm39)	R932G	possibly damaging	Het

Other mutations in Cped1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Cped1	APN	6	22,215,522 (GRCm39)	missense	probably damaging	1.00
IGL00909:Cped1	APN	6	22,122,426 (GRCm39)	splice site	probably benign
IGL01434:Cped1	APN	6	22,017,004 (GRCm39)	missense	probably damaging	0.99
IGL01572:Cped1	APN	6	22,051,300 (GRCm39)	missense	probably benign	0.00
IGL02063:Cped1	APN	6	22,138,701 (GRCm39)	missense	probably damaging	0.98
IGL02216:Cped1	APN	6	22,059,944 (GRCm39)	missense	probably damaging	1.00
IGL02257:Cped1	APN	6	22,145,606 (GRCm39)	missense	possibly damaging	0.86
IGL02541:Cped1	APN	6	22,120,988 (GRCm39)	missense	probably benign	0.00
IGL03008:Cped1	APN	6	22,233,601 (GRCm39)	missense	probably benign	0.01
IGL03237:Cped1	APN	6	22,233,595 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Cped1	UTSW	6	22,222,449 (GRCm39)	nonsense	probably null
PIT4812001:Cped1	UTSW	6	22,122,293 (GRCm39)	missense	probably benign	0.02
R0048:Cped1	UTSW	6	22,119,601 (GRCm39)	missense	probably benign	0.08
R0128:Cped1	UTSW	6	22,121,038 (GRCm39)	missense	probably benign	0.00
R0130:Cped1	UTSW	6	22,121,038 (GRCm39)	missense	probably benign	0.00
R0267:Cped1	UTSW	6	22,119,475 (GRCm39)	missense	probably damaging	0.99
R0374:Cped1	UTSW	6	22,222,545 (GRCm39)	splice site	probably benign
R0482:Cped1	UTSW	6	22,016,957 (GRCm39)	missense	probably benign	0.32
R0734:Cped1	UTSW	6	22,085,040 (GRCm39)	missense	probably damaging	1.00
R1033:Cped1	UTSW	6	22,016,950 (GRCm39)	missense	probably damaging	0.99
R1118:Cped1	UTSW	6	22,237,698 (GRCm39)	missense	probably benign	0.19
R1181:Cped1	UTSW	6	22,215,561 (GRCm39)	missense	probably damaging	0.99
R1300:Cped1	UTSW	6	22,119,552 (GRCm39)	missense	probably benign	0.00
R1485:Cped1	UTSW	6	22,132,387 (GRCm39)	critical splice donor site	probably null
R1507:Cped1	UTSW	6	22,122,260 (GRCm39)	missense	probably damaging	1.00
R1830:Cped1	UTSW	6	22,237,727 (GRCm39)	missense	probably damaging	1.00
R1879:Cped1	UTSW	6	22,085,014 (GRCm39)	splice site	probably null
R1902:Cped1	UTSW	6	22,120,980 (GRCm39)	splice site	probably null
R1991:Cped1	UTSW	6	22,233,926 (GRCm39)	missense	probably damaging	1.00
R2020:Cped1	UTSW	6	22,143,963 (GRCm39)	missense	probably benign	0.38
R2883:Cped1	UTSW	6	22,143,978 (GRCm39)	missense	probably damaging	1.00
R3011:Cped1	UTSW	6	22,088,695 (GRCm39)	missense	probably damaging	1.00
R4466:Cped1	UTSW	6	22,123,651 (GRCm39)	missense	probably benign	0.29
R4668:Cped1	UTSW	6	22,237,652 (GRCm39)	missense	probably benign	0.06
R4808:Cped1	UTSW	6	22,088,756 (GRCm39)	missense	probably damaging	1.00
R5402:Cped1	UTSW	6	22,143,951 (GRCm39)	missense	probably benign	0.05
R5741:Cped1	UTSW	6	22,123,620 (GRCm39)	missense	probably benign	0.02
R5821:Cped1	UTSW	6	22,138,681 (GRCm39)	missense	probably benign	0.00
R5977:Cped1	UTSW	6	22,254,607 (GRCm39)	missense	probably damaging	1.00
R6255:Cped1	UTSW	6	22,138,714 (GRCm39)	splice site	probably null
R6304:Cped1	UTSW	6	22,016,922 (GRCm39)	missense	probably benign	0.14
R6416:Cped1	UTSW	6	22,123,648 (GRCm39)	missense	probably damaging	1.00
R6444:Cped1	UTSW	6	21,986,930 (GRCm39)	missense	probably benign	0.00
R6617:Cped1	UTSW	6	22,215,546 (GRCm39)	nonsense	probably null
R6650:Cped1	UTSW	6	22,233,975 (GRCm39)	missense	probably damaging	1.00
R7048:Cped1	UTSW	6	22,119,469 (GRCm39)	missense	probably benign	0.36
R7083:Cped1	UTSW	6	22,123,579 (GRCm39)	missense	probably benign	0.01
R7234:Cped1	UTSW	6	22,254,625 (GRCm39)	missense	probably damaging	0.99
R7387:Cped1	UTSW	6	22,059,933 (GRCm39)	missense	probably benign	0.01
R7493:Cped1	UTSW	6	22,215,512 (GRCm39)	missense	probably damaging	1.00
R7720:Cped1	UTSW	6	22,222,430 (GRCm39)	missense	probably damaging	1.00
R7747:Cped1	UTSW	6	22,143,973 (GRCm39)	missense	probably damaging	1.00
R7966:Cped1	UTSW	6	22,059,953 (GRCm39)	critical splice donor site	probably null
R8113:Cped1	UTSW	6	22,233,480 (GRCm39)	missense	possibly damaging	0.89
R8186:Cped1	UTSW	6	22,123,587 (GRCm39)	missense	probably benign	0.01
R8215:Cped1	UTSW	6	22,132,277 (GRCm39)	missense	probably damaging	1.00
R8265:Cped1	UTSW	6	22,222,426 (GRCm39)	missense	probably benign	0.04
R8280:Cped1	UTSW	6	21,986,820 (GRCm39)	missense	unknown
R8286:Cped1	UTSW	6	22,254,601 (GRCm39)	missense	probably benign	0.03
R8393:Cped1	UTSW	6	22,222,465 (GRCm39)	missense	possibly damaging	0.80
R8503:Cped1	UTSW	6	22,145,564 (GRCm39)	missense	probably benign	0.02
R8725:Cped1	UTSW	6	22,059,941 (GRCm39)	missense	possibly damaging	0.71
R8727:Cped1	UTSW	6	22,059,941 (GRCm39)	missense	possibly damaging	0.71
R8852:Cped1	UTSW	6	22,215,620 (GRCm39)	missense	probably damaging	1.00
R8881:Cped1	UTSW	6	22,119,578 (GRCm39)	missense	possibly damaging	0.58
R8888:Cped1	UTSW	6	22,016,962 (GRCm39)	missense	possibly damaging	0.51
R8983:Cped1	UTSW	6	22,138,686 (GRCm39)	missense	probably benign	0.00
R9135:Cped1	UTSW	6	21,987,012 (GRCm39)	missense	probably damaging	0.98
X0022:Cped1	UTSW	6	21,987,045 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGTACCATGTAAACACCTGATGAC -3'
(R):5'- AGACTTCCTTGTCATTTGCAGTTCG -3'

Sequencing Primer
(F):5'- ATGTAAACACCTGATGACAACAG -3'
(R):5'- AGTGGGTATCTAAGCCTTTCAGCAC -3'

Posted On

2016-09-01