Mutagenetix > Incidental Mutation

Incidental Mutation 'R3011:Cped1'

257506

Institutional Source

Beutler Lab

Gene Symbol

Cped1

Ensembl Gene

ENSMUSG00000062980

Gene Name

cadherin-like and PC-esterase domain containing 1

Synonyms

A430107O13Rik

MMRRC Submission

040533-MU

Accession Numbers

Essential gene?

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

Stock #

R3011 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21985915-22256403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22088695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 253 (T253A)

Ref Sequence

ENSEMBL: ENSMUSP00000111040 (fasta)

Gene Model

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

AlphaFold

B2RX70

Predicted Effect

probably damaging
Transcript: ENSMUST00000115382
AA Change: T253A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000111040
Gene: ENSMUSG00000062980
AA Change: T253A

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 damaging
Transcript: ENSMUST00000115383
AA Change: T253A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: T253A

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: T115A

SMART Domains

Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: T115A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153922

SMART Domains

Protein: ENSMUSP00000138562
Gene: ENSMUSG00000062980

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: ENSMUST00000156621

Meta Mutation Damage Score

0.1190

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	A	C	16: 38,422,269 (GRCm39)	C1266G	possibly damaging	Het
Brme1	C	A	8: 84,893,539 (GRCm39)	Y235*	probably null	Het
Cers5	A	G	15: 99,670,598 (GRCm39)		probably benign	Het
Clasp2	C	T	9: 113,730,581 (GRCm39)	T905M	probably damaging	Het
Clec16a	A	G	16: 10,428,975 (GRCm39)	N469S	probably benign	Het
Commd3	T	A	2: 18,679,499 (GRCm39)	V128D	probably damaging	Het
Dnajc5b	A	T	3: 19,600,966 (GRCm39)	Y21F	probably damaging	Het
Fhip2a	T	A	19: 57,373,720 (GRCm39)	L660Q	probably damaging	Het
Gm14403	A	G	2: 177,200,786 (GRCm39)	D244G	probably benign	Het
Gm5414	T	C	15: 101,534,047 (GRCm39)	D312G	probably damaging	Het
Ifi204	T	C	1: 173,579,217 (GRCm39)	S543G	probably benign	Het
Itga11	T	A	9: 62,604,262 (GRCm39)	I50N	probably damaging	Het
Lct	C	T	1: 128,229,109 (GRCm39)	V795I	possibly damaging	Het
Lrrc37	T	A	11: 103,503,929 (GRCm39)	T504S	possibly damaging	Het
Map2	A	G	1: 66,453,771 (GRCm39)	D887G	probably damaging	Het
Mgat4e	T	A	1: 134,469,846 (GRCm39)	D66V	possibly damaging	Het
Nqo1	C	T	8: 108,115,743 (GRCm39)	R178H	probably benign	Het
Or13e8	G	T	4: 43,696,624 (GRCm39)	A183E	probably damaging	Het
Or5h22	A	G	16: 58,895,350 (GRCm39)	V31A	probably benign	Het
Otof	G	A	5: 30,540,184 (GRCm39)	A999V	probably damaging	Het
Phf20	A	G	2: 156,129,946 (GRCm39)	D506G	probably benign	Het
Pth2r	C	T	1: 65,376,147 (GRCm39)	H97Y	probably benign	Het
Snx18	G	A	13: 113,753,422 (GRCm39)	Q504*	probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
Srgap2	T	A	1: 131,238,329 (GRCm39)	Q520L	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tlr4	A	T	4: 66,757,491 (GRCm39)	K95*	probably null	Het
Tmem59l	A	T	8: 70,938,887 (GRCm39)	C96S	probably damaging	Het
Tmtc3	G	T	10: 100,283,444 (GRCm39)	P704T	possibly damaging	Het
Upp2	T	C	2: 58,680,107 (GRCm39)	V293A	probably damaging	Het
Vps72	A	G	3: 95,026,585 (GRCm39)	K177E	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
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'- GTCTTCCAGTATAAAGACCCCTACC -3'
(R):5'- CAGCTTGCGTAGGACCTTTAC -3'

Sequencing Primer
(F):5'- ACCCATTGATGGCGTGTC -3'
(R):5'- GGACCTTTACCTTGACAGTGAAGC -3'

Posted On

2015-01-11