Mutagenetix > Incidental Mutation

Incidental Mutation 'R1181:Cped1'

101562

Institutional Source

Beutler Lab

Gene Symbol

Cped1

Ensembl Gene

ENSMUSG00000062980

Gene Name

cadherin-like and PC-esterase domain containing 1

Synonyms

A430107O13Rik

MMRRC Submission

039253-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1181 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21985915-22256403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 22215561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 698 (I698M)

Ref Sequence

ENSEMBL: ENSMUSP00000111041 (fasta)

Gene Model

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

AlphaFold

B2RX70

Predicted Effect

probably damaging
Transcript: ENSMUST00000115383
AA Change: I698M

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: I698M

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

unknown
Transcript: ENSMUST00000137437
AA Change: I560M

SMART Domains

Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: I560M

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

0.0743

Coding Region Coverage

1x: 99.3%
3x: 97.9%
10x: 93.9%
20x: 84.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	T	A	19: 4,922,638 (GRCm39)	Q64L	probably benign	Het
Ankrd12	T	C	17: 66,349,569 (GRCm39)	N88S	probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Bnipl	C	A	3: 95,152,960 (GRCm39)		probably null	Het
Bod1	T	C	11: 31,616,943 (GRCm39)		probably benign	Het
Cbarp	G	T	10: 79,971,328 (GRCm39)	H166N	probably damaging	Het
Cdr2l	T	A	11: 115,285,005 (GRCm39)	I447N	probably damaging	Het
Ecm1	G	A	3: 95,642,662 (GRCm39)	H404Y	possibly damaging	Het
Ehbp1	C	T	11: 22,012,831 (GRCm39)	V902I	probably benign	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Fastk	C	T	5: 24,646,729 (GRCm39)		probably null	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hgf	G	C	5: 16,823,923 (GRCm39)	G707R	probably damaging	Het
Klhl5	T	C	5: 65,320,228 (GRCm39)	M594T	probably damaging	Het
Kyat3	A	C	3: 142,443,531 (GRCm39)		probably null	Het
Mettl14	C	T	3: 123,167,651 (GRCm39)	G236S	probably damaging	Het
Nob1	G	A	8: 108,148,122 (GRCm39)	P107S	probably damaging	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2a56	T	A	6: 42,932,492 (GRCm39)	L20Q	probably benign	Het
Or52e7	T	A	7: 104,685,021 (GRCm39)	N205K	probably damaging	Het
Or52n4b	C	A	7: 108,144,509 (GRCm39)	T257N	probably benign	Het
Or5b109	C	A	19: 13,212,195 (GRCm39)	H194N	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or6c65	A	G	10: 129,604,033 (GRCm39)	I223V	probably benign	Het
Pald1	A	G	10: 61,183,366 (GRCm39)		probably benign	Het
Pds5a	A	T	5: 65,784,545 (GRCm39)		probably null	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plekha2	A	C	8: 25,549,218 (GRCm39)	S189A	probably benign	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Serinc3	T	C	2: 163,467,446 (GRCm39)	K445R	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slfn8	T	C	11: 82,907,571 (GRCm39)	E324G	probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Tas2r121	A	T	6: 132,677,132 (GRCm39)	I280N	probably damaging	Het
Tbc1d7	T	C	13: 43,306,615 (GRCm39)	I242M	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tnni3k	A	T	3: 154,581,150 (GRCm39)	H600Q	probably damaging	Het
Trim66	C	T	7: 109,083,784 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Tulp3	A	T	6: 128,302,915 (GRCm39)	H301Q	possibly damaging	Het
Ubqln5	T	A	7: 103,777,948 (GRCm39)	Q292L	probably damaging	Het
Zfp454	T	C	11: 50,764,413 (GRCm39)	K229E	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
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
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'- TACCCACAGTGTACCCAGTGATGG -3'
(R):5'- CGTTTCTAGATGGCAATGGGTTAGCA -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- GCATCTACACTTGTAGTATGTCTTG -3'

Posted On

2014-01-15