Mutagenetix > Incidental Mutation

Incidental Mutation 'R8186:Cped1'

634861

Institutional Source

Beutler Lab

Gene Symbol

Cped1

Ensembl Gene

ENSMUSG00000062980

Gene Name

cadherin-like and PC-esterase domain containing 1

Synonyms

A430107O13Rik

MMRRC Submission

067609-MU

Accession Numbers

Essential gene?

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

Stock #

R8186 (G1)

Quality Score

200.009

Status

Not validated

Chromosome

Chromosomal Location

21985915-22256403 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22123587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 447 (S447P)

Ref Sequence

ENSEMBL: ENSMUSP00000111041 (fasta)

Gene Model

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

AlphaFold

B2RX70

Predicted Effect

probably benign
Transcript: ENSMUST00000115382
AA Change: S447P

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111040
Gene: ENSMUSG00000062980
AA Change: S447P

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: S447P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: S447P

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

SMART Domains

Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: S309P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	G	A	6: 86,085,002 (GRCm39)	V543M	probably benign	Het
Agl	A	G	3: 116,552,557 (GRCm39)	I459T	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Atg16l2	C	T	7: 100,945,714 (GRCm39)		probably null	Het
Bltp2	A	G	11: 78,177,457 (GRCm39)	T1921A	probably damaging	Het
C130073F10Rik	G	A	4: 101,748,031 (GRCm39)	R48*	probably null	Het
Cdc25b	C	T	2: 131,031,050 (GRCm39)	T125M	probably benign	Het
Cdc42bpg	T	A	19: 6,356,895 (GRCm39)	F50L	probably damaging	Het
Chd9	T	A	8: 91,725,233 (GRCm39)	D1187E	unknown	Het
Col4a2	T	C	8: 11,475,542 (GRCm39)		probably null	Het
Ddx19a	T	A	8: 111,710,274 (GRCm39)	M109L	probably benign	Het
Def8	C	A	8: 124,188,215 (GRCm39)	Y431*	probably null	Het
Gata4	A	G	14: 63,438,962 (GRCm39)	S373P	probably benign	Het
Gm9837	A	T	11: 53,361,136 (GRCm39)	L26*	probably null	Het
Hspa1b	A	T	17: 35,176,557 (GRCm39)	V476E	probably damaging	Het
Htr5b	G	A	1: 121,456,108 (GRCm39)		probably benign	Het
Hydin	T	C	8: 111,336,277 (GRCm39)	V5018A	probably benign	Het
Ighv1-85	A	G	12: 115,963,923 (GRCm39)	S26P	probably benign	Het
Kics2	T	A	10: 121,581,247 (GRCm39)	F83I	possibly damaging	Het
Lrrc2	A	G	9: 110,789,910 (GRCm39)	K56E	possibly damaging	Het
Macf1	A	T	4: 123,266,219 (GRCm39)	I6793N	probably damaging	Het
Macf1	A	C	4: 123,275,923 (GRCm39)	V6215G	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfxl1	A	G	5: 72,716,355 (GRCm39)		probably null	Het
Odad4	A	G	11: 100,454,505 (GRCm39)	D430G	probably benign	Het
Oprk1	A	T	1: 5,672,540 (GRCm39)	M226L	probably benign	Het
Or1e1	T	C	11: 73,245,247 (GRCm39)	S223P	possibly damaging	Het
Phf2	A	G	13: 48,961,227 (GRCm39)	L821P	unknown	Het
Rdh7	C	A	10: 127,723,284 (GRCm39)		probably null	Het
Rpl11	A	G	4: 135,778,968 (GRCm39)	V74A	possibly damaging	Het
Safb2	G	A	17: 56,873,051 (GRCm39)	R790C	possibly damaging	Het
Sgpp2	T	C	1: 78,393,609 (GRCm39)	F204S	probably benign	Het
Sgsm3	A	C	15: 80,893,643 (GRCm39)	I426L	possibly damaging	Het
Speer1b	A	G	5: 11,823,926 (GRCm39)	D158G	probably damaging	Het
Styxl2	A	G	1: 165,927,648 (GRCm39)	S655P	probably damaging	Het
Tbccd1	A	G	16: 22,637,189 (GRCm39)	L545P	probably damaging	Het
Toporsl	T	A	4: 52,610,489 (GRCm39)	F127L	probably damaging	Het
Ttn	T	G	2: 76,749,256 (GRCm39)	Q3931P	probably damaging	Het
Tuba1c	C	A	15: 98,935,396 (GRCm39)	L286I	probably benign	Het
Usp48	A	G	4: 137,348,507 (GRCm39)	R528G	possibly damaging	Het
Utrn	T	C	10: 12,573,867 (GRCm39)	T1068A	probably benign	Het
Vmn2r103	A	T	17: 20,032,205 (GRCm39)	T660S	probably damaging	Het
Vmn2r105	G	T	17: 20,444,880 (GRCm39)	Y537*	probably null	Het
Vmn2r88	A	T	14: 51,656,157 (GRCm39)	I744F		Het
Wnt9b	T	C	11: 103,621,601 (GRCm39)	E352G	probably damaging	Het
Zfp78	A	G	7: 6,376,228 (GRCm39)	N46D	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
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
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

Posted On

2020-07-13