Mutagenetix > Incidental Mutation

Incidental Mutation 'R6617:Cped1'

524143

Institutional Source

Beutler Lab

Gene Symbol

Cped1

Ensembl Gene

ENSMUSG00000062980

Gene Name

cadherin-like and PC-esterase domain containing 1

Synonyms

A430107O13Rik

MMRRC Submission

044740-MU

Accession Numbers

Essential gene?

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

Stock #

R6617 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21985915-22256403 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 22215546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 555 (C555*)

Gene Model

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

AlphaFold

B2RX70

Predicted Effect

probably null
Transcript: ENSMUST00000115383
AA Change: C693*

SMART Domains

Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: C693*

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: C555*

SMART Domains

Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: C555*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.2%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,454,152 (GRCm39)	I323K	possibly damaging	Het
Agbl4	T	A	4: 110,437,332 (GRCm39)	V81D	probably damaging	Het
Akap13	A	G	7: 75,380,111 (GRCm39)	D2147G	possibly damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Arhgef18	T	C	8: 3,489,592 (GRCm39)	L308P	probably damaging	Het
Atad2b	C	A	12: 5,074,668 (GRCm39)	L1076I	probably benign	Het
Chp2	T	C	7: 121,819,917 (GRCm39)	V59A	probably benign	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Crispld1	G	A	1: 17,798,886 (GRCm39)	M2I	probably benign	Het
Cul3	T	C	1: 80,254,156 (GRCm39)	N540S	probably damaging	Het
Dll4	A	G	2: 119,158,412 (GRCm39)	T134A	probably benign	Het
Fat2	G	A	11: 55,186,931 (GRCm39)	T1305I	probably benign	Het
Fbxw8	A	G	5: 118,280,731 (GRCm39)		probably null	Het
Gm9195	A	T	14: 72,669,215 (GRCm39)	L2649H	probably damaging	Het
Gprc5c	A	G	11: 114,754,931 (GRCm39)	I203V	probably benign	Het
Hmcn1	T	C	1: 150,619,547 (GRCm39)	D1189G	probably benign	Het
Hnrnpl	C	A	7: 28,518,009 (GRCm39)		probably benign	Het
Homer1	T	A	13: 93,478,370 (GRCm39)	Y38N	probably damaging	Het
Itgb5	A	G	16: 33,766,962 (GRCm39)	T707A	probably benign	Het
Lmbrd1	G	A	1: 24,724,509 (GRCm39)	R31Q	probably damaging	Het
Mbtps1	G	A	8: 120,264,876 (GRCm39)	P341S	probably damaging	Het
Mlxip	A	G	5: 123,580,512 (GRCm39)		probably null	Het
Myh13	A	T	11: 67,252,226 (GRCm39)	T1445S	probably benign	Het
Ncapg	C	T	5: 45,827,474 (GRCm39)	A37V	probably benign	Het
Neb	A	G	2: 52,097,759 (GRCm39)	F4909L	probably damaging	Het
Nrcam	T	A	12: 44,587,746 (GRCm39)	W141R	probably damaging	Het
Or6k4	T	G	1: 173,964,814 (GRCm39)	F168C	probably damaging	Het
Phykpl	A	G	11: 51,484,781 (GRCm39)	E247G	probably damaging	Het
Plekhh2	A	G	17: 84,873,715 (GRCm39)	I333M	possibly damaging	Het
Sorcs2	A	G	5: 36,235,310 (GRCm39)	F69L	probably damaging	Het
Sspo	C	A	6: 48,467,980 (GRCm39)	T349K	possibly damaging	Het
Stap2	A	G	17: 56,306,746 (GRCm39)	S276P	probably benign	Het
Tle1	A	G	4: 72,059,517 (GRCm39)	S275P	probably damaging	Het
Topors	G	A	4: 40,261,896 (GRCm39)	Q463*	probably null	Het
Tsc1	A	G	2: 28,577,001 (GRCm39)	D1101G	possibly damaging	Het
Tyrp1	G	A	4: 80,764,984 (GRCm39)	A54T	probably benign	Het
Vcam1	A	G	3: 115,919,711 (GRCm39)	V185A	possibly damaging	Het
Vmn2r19	T	A	6: 123,313,494 (GRCm39)	*855R	probably null	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
R5417:Cped1	UTSW	6	22,233,579 (GRCm39)	missense	probably null	0.01
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
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'- TGAGATGCCAACCTCAGAAC -3'
(R):5'- CCGTTTCTAGATGGCAATGGG -3'

Sequencing Primer
(F):5'- AGCCAACCATGTTTCTGAGG -3'
(R):5'- TCTAGATGGCAATGGGTTAGCAATG -3'

Posted On

2018-06-22