Mutagenetix > Incidental Mutation

Incidental Mutation 'R6650:Cped1'

527737

Institutional Source

Beutler Lab

Gene Symbol

Cped1

Ensembl Gene

ENSMUSG00000062980

Gene Name

cadherin-like and PC-esterase domain containing 1

Synonyms

A430107O13Rik

MMRRC Submission

044771-MU

Accession Numbers

Essential gene?

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

Stock #

R6650 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21985915-22256403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22233975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 725 (N725S)

Gene Model

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

AlphaFold

B2RX70

Predicted Effect

probably damaging
Transcript: ENSMUST00000115383
AA Change: N863S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: N863S

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 damaging
Transcript: ENSMUST00000137437
AA Change: N725S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: N725S

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	G	1: 78,659,639 (GRCm39)	N97S	probably benign	Het
Aph1a	T	C	3: 95,803,598 (GRCm39)	V220A	probably benign	Het
Bin2	T	A	15: 100,567,301 (GRCm39)	Q25L	probably damaging	Het
Ccdc102a	T	C	8: 95,639,892 (GRCm39)	E134G	probably benign	Het
Cdh6	A	G	15: 13,051,487 (GRCm39)	V382A	probably benign	Het
Cep135	T	A	5: 76,781,548 (GRCm39)	V845E	possibly damaging	Het
Cngb3	T	C	4: 19,364,168 (GRCm39)	L124P	probably damaging	Het
Dcn	C	A	10: 97,343,605 (GRCm39)	N188K	probably benign	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Ercc3	C	T	18: 32,394,389 (GRCm39)	R590C	probably damaging	Het
Fchsd1	A	T	18: 38,099,555 (GRCm39)	L213*	probably null	Het
Fmod	A	G	1: 133,968,745 (GRCm39)	S262G	probably benign	Het
Gm45861	T	C	8: 27,995,043 (GRCm39)	S530P	unknown	Het
Ifih1	T	C	2: 62,436,791 (GRCm39)	D544G	possibly damaging	Het
Itpr1	A	G	6: 108,371,034 (GRCm39)		probably null	Het
Larp1	CA	CAA	11: 57,949,422 (GRCm39)		probably null	Het
Lbp	T	A	2: 158,151,587 (GRCm39)	S102R	probably benign	Het
Lepr	C	A	4: 101,672,398 (GRCm39)	Q1141K	probably damaging	Het
Mcm8	C	A	2: 132,663,327 (GRCm39)	N148K	probably benign	Het
Mcpt4	T	G	14: 56,298,090 (GRCm39)	T154P	possibly damaging	Het
Mrpl22	A	G	11: 58,066,134 (GRCm39)	Y76C	probably damaging	Het
Msln	T	C	17: 25,969,144 (GRCm39)	I414V	probably benign	Het
Ncor1	G	A	11: 62,225,367 (GRCm39)	T1798I	probably damaging	Het
Nlrp4c	T	A	7: 6,068,948 (GRCm39)	F283Y	probably damaging	Het
Os9	C	T	10: 126,935,953 (GRCm39)		probably null	Het
Pira12	T	A	7: 3,898,632 (GRCm39)	Q272L	probably benign	Het
Pira13	T	A	7: 3,819,898 (GRCm39)	H555L	possibly damaging	Het
Pja2	T	C	17: 64,599,936 (GRCm39)	E516G	probably damaging	Het
Pofut1	T	A	2: 153,101,270 (GRCm39)		probably benign	Het
Prl2b1	G	T	13: 27,569,249 (GRCm39)	H116Q	probably benign	Het
Ralgapa2	T	C	2: 146,230,422 (GRCm39)	K1048E	probably damaging	Het
Scnn1b	G	A	7: 121,502,043 (GRCm39)	V234M	probably damaging	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Sh3pxd2a	C	T	19: 47,256,663 (GRCm39)	G685D	probably benign	Het
Six4	C	A	12: 73,150,299 (GRCm39)	G749C	probably benign	Het
Tnn	G	A	1: 159,942,153 (GRCm39)	T1115I	probably damaging	Het
Tpcn1	T	A	5: 120,675,627 (GRCm39)	Q779L	probably null	Het
Ugt2a2	A	G	5: 87,622,459 (GRCm39)	Y380H	probably damaging	Het
Xkr8	T	C	4: 132,455,249 (GRCm39)	T375A	probably benign	Het
Zdhhc20	T	A	14: 58,096,032 (GRCm39)	K135N	probably damaging	Het
Zfp235	T	A	7: 23,836,463 (GRCm39)		probably null	Het
Zfp354c	A	G	11: 50,705,518 (GRCm39)	V519A	probably 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
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
R6617:Cped1	UTSW	6	22,215,546 (GRCm39)	nonsense	probably null
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'- TGTGATCAGGAAGCCAGACATG -3'
(R):5'- TCCCTTATATAGCAATGGGGATG -3'

Sequencing Primer
(F):5'- GGTTCATTGAAATGTGAGGCAATCC -3'
(R):5'- ACAGGTATGTGCTACTACACCTG -3'

Posted On

2018-07-23