Mutagenetix > Incidental Mutation

Incidental Mutation 'R6444:Cped1'

519125

Institutional Source

Beutler Lab

Gene Symbol

Cped1

Ensembl Gene

ENSMUSG00000062980

Gene Name

cadherin-like and PC-esterase domain containing 1

Synonyms

A430107O13Rik

MMRRC Submission

044582-MU

Accession Numbers

Essential gene?

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

Stock #

R6444 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21985915-22256403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21986930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 41 (I41L)

Ref Sequence

ENSEMBL: ENSMUSP00000138562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115382] [ENSMUST00000115383] [ENSMUST00000153922]

AlphaFold

B2RX70

Predicted Effect

probably benign
Transcript: ENSMUST00000115382
AA Change: I41L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000111040
Gene: ENSMUSG00000062980
AA Change: I41L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115383
AA Change: I41L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: I41L

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

noncoding transcript
Transcript: ENSMUST00000141064

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151315

SMART Domains

Protein: ENSMUSP00000116822
Gene: ENSMUSG00000062980

Domain	Start	End	E-Value	Type
low complexity region	83	95	N/A	INTRINSIC
low complexity region	106	120	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153922
AA Change: I41L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000138562
Gene: ENSMUSG00000062980
AA Change: I41L

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
low complexity region	130	142	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180395

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	ACAGAGCAGTGCCTACCAG	ACAG	5: 138,637,831 (GRCm39)		probably benign	Het
Bcas2	T	A	3: 103,079,362 (GRCm39)		probably null	Het
Camk1d	A	T	2: 5,317,956 (GRCm39)	I233N	probably damaging	Het
Chd2	T	C	7: 73,150,785 (GRCm39)		probably null	Het
Cnot2	T	C	10: 116,335,260 (GRCm39)	D246G	probably benign	Het
Dcdc2c	A	G	12: 28,585,475 (GRCm39)	V174A	probably damaging	Het
Dscam	G	A	16: 96,420,844 (GRCm39)	R1681C	probably damaging	Het
Dysf	G	A	6: 84,167,822 (GRCm39)	V1755M	probably benign	Het
Eif5b	G	A	1: 38,075,292 (GRCm39)	D590N	probably damaging	Het
Fntb	A	G	12: 76,963,214 (GRCm39)	Y399C	probably damaging	Het
Galns	T	C	8: 123,338,077 (GRCm39)	M1V	probably null	Het
Galnt15	T	C	14: 31,762,368 (GRCm39)	F199L	probably damaging	Het
Gm8229	A	T	14: 44,602,928 (GRCm39)	H38L	unknown	Het
Magel2	T	C	7: 62,029,747 (GRCm39)	Y884H	unknown	Het
Miga1	A	T	3: 151,989,468 (GRCm39)	V473E	probably damaging	Het
Mrgprx1	C	T	7: 47,671,562 (GRCm39)	V62I	possibly damaging	Het
Mybl1	G	A	1: 9,755,917 (GRCm39)	P211S	possibly damaging	Het
Myo19	A	G	11: 84,786,134 (GRCm39)	H254R	probably benign	Het
Myo1h	A	G	5: 114,453,017 (GRCm39)	T6A	possibly damaging	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Or5b119	A	T	19: 13,456,794 (GRCm39)	M256K	possibly damaging	Het
Or8g20	T	C	9: 39,395,614 (GRCm39)	T309A	probably benign	Het
Psmd12	A	G	11: 107,377,280 (GRCm39)	E113G	possibly damaging	Het
Ptpn3	T	C	4: 57,195,730 (GRCm39)	D879G	possibly damaging	Het
Rufy3	A	G	5: 88,785,166 (GRCm39)	Q414R	probably damaging	Het
Slc14a2	A	G	18: 78,197,317 (GRCm39)	I813T	probably damaging	Het
Smok2a	G	T	17: 13,444,500 (GRCm39)	A26S	probably benign	Het
Spsb3	T	A	17: 25,110,550 (GRCm39)	L459Q	probably damaging	Het
Tacc2	T	C	7: 130,225,142 (GRCm39)	V609A	possibly damaging	Het
Tmem185b	C	A	1: 119,454,365 (GRCm39)	A42E	probably damaging	Het
Trim56	A	G	5: 137,141,470 (GRCm39)	V682A	probably damaging	Het
Trim75	T	C	8: 65,435,488 (GRCm39)	K321E	possibly damaging	Het
Ttc17	A	C	2: 94,133,891 (GRCm39)	M1098R	possibly damaging	Het
Ydjc	C	A	16: 16,965,545 (GRCm39)	H136Q	probably damaging	Het
Zfp568	A	T	7: 29,716,682 (GRCm39)	H193L	probably benign	Het
Znhit1	A	G	5: 137,011,254 (GRCm39)	V153A	probably benign	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
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'- TTTCACACTGACAACGTGGC -3'
(R):5'- TAATACCTCTCCCAGTCACCGG -3'

Sequencing Primer
(F):5'- ACTGACAACGTGGCCAGGG -3'
(R):5'- TCCCATTCGGACCACATGG -3'

Posted On

2018-05-24