Mutagenetix > Incidental Mutation

Incidental Mutation 'R7747:Cped1'

596898

Institutional Source

Beutler Lab

Gene Symbol

Cped1

Ensembl Gene

ENSMUSG00000062980

Gene Name

cadherin-like and PC-esterase domain containing 1

Synonyms

A430107O13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7747 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21985916-22256404 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22143974 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 573 (I573T)

Ref Sequence

ENSEMBL: ENSMUSP00000111041 (fasta)

Gene Model

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

AlphaFold

B2RX70

Predicted Effect

probably damaging
Transcript: ENSMUST00000115383
AA Change: I573T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: I573T

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: I435T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (89/89)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010109A12Rik	G	A	5: 93,206,557		probably null	Het
2410004P03Rik	C	T	12: 17,007,148	S116N	probably damaging	Het
3425401B19Rik	T	C	14: 32,663,069	D313G	possibly damaging	Het
AA986860	A	G	1: 130,743,547	E502G	possibly damaging	Het
Adamts20	T	A	15: 94,291,587	K1462*	probably null	Het
Adgrg6	A	C	10: 14,450,577		probably null	Het
Ankrd13d	G	A	19: 4,280,985	H165Y	probably damaging	Het
Arap3	T	C	18: 37,988,888		probably null	Het
Arhgap33	A	G	7: 30,524,135	V823A	probably damaging	Het
Aup1	C	A	6: 83,054,795	P34T	unknown	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicc1	T	C	10: 70,946,993	T515A	probably benign	Het
Ccdc73	A	C	2: 104,929,556	K106Q	probably damaging	Het
Celsr3	G	A	9: 108,829,978	R1220Q	possibly damaging	Het
Cep290	C	T	10: 100,558,176	Q2082*	probably null	Het
Cercam	A	G	2: 29,871,286	D104G	probably benign	Het
Champ1	A	G	8: 13,879,990	H716R	probably damaging	Het
Cntrl	A	T	2: 35,116,798	I159F	probably damaging	Het
Col11a1	T	C	3: 114,102,572	I507T	unknown	Het
Crot	C	T	5: 8,968,869		probably null	Het
D1Pas1	T	A	1: 186,968,677	S268T	probably benign	Het
Erich6	A	G	3: 58,618,928	V551A	probably damaging	Het
Fbxo32	T	C	15: 58,191,361	N192S	probably damaging	Het
Fgd6	T	C	10: 94,044,916	V544A	probably damaging	Het
Fnbp1	C	T	2: 31,036,147	G552E	probably damaging	Het
Gjb5	A	T	4: 127,356,162	V63D	probably damaging	Het
Gm10053	T	C	19: 24,876,039	I96T	probably benign	Het
Gm11639	T	G	11: 104,842,603	I2011S	probably damaging	Het
Gm38119	T	C	3: 92,738,021	S89G	unknown	Het
Gm884	A	T	11: 103,614,255	S2296T	probably damaging	Het
Gpn2	A	G	4: 133,586,045	I183V	probably benign	Het
Greb1	C	T	12: 16,674,795	V1793M	probably benign	Het
H2-Q7	A	G	17: 35,440,061	I163V	probably benign	Het
Hrh2	T	C	13: 54,214,530	V175A	possibly damaging	Het
Hsd3b3	C	T	3: 98,743,898	V79I	possibly damaging	Het
Itgb7	T	C	15: 102,216,604	I727M	possibly damaging	Het
Kcnj16	T	A	11: 111,024,743	F77Y	probably damaging	Het
Lilra6	T	A	7: 3,912,996	Q288L	probably benign	Het
Malrd1	G	A	2: 16,074,835	V1788M	unknown	Het
Mau2	T	C	8: 70,026,723	I349V	possibly damaging	Het
Mbnl3	C	T	X: 51,130,334	R181H	probably damaging	Het
Mfsd6	T	C	1: 52,676,547	T524A	probably benign	Het
Mical2	G	T	7: 112,333,839	R740L	probably benign	Het
Mknk1	G	A	4: 115,878,072	C379Y	possibly damaging	Het
Mta3	A	T	17: 83,791,736	K410*	probably null	Het
Myb	A	C	10: 21,156,425	I19S	possibly damaging	Het
Ncor2	A	G	5: 125,027,038	F996S		Het
Nlrp1a	T	C	11: 71,123,408	M339V	possibly damaging	Het
Olfr136	C	T	17: 38,335,394	P79L	probably benign	Het
Olfr689	A	G	7: 105,314,447	K148E	probably damaging	Het
Pcdhga5	C	T	18: 37,696,782	T761I	possibly damaging	Het
Pcmtd2	T	C	2: 181,851,659	L219P	possibly damaging	Het
Pfdn1	C	T	18: 36,432,305		probably null	Het
Pkn3	G	A	2: 30,090,584	C829Y	probably benign	Het
Pld1	T	C	3: 28,087,189	S634P	possibly damaging	Het
Pofut2	T	G	10: 77,262,470	V139G	possibly damaging	Het
Prdm12	C	A	2: 31,653,871		probably null	Het
Prkar2b	C	A	12: 32,060,938	A49S	probably benign	Het
Prmt1	A	T	7: 44,984,136		probably null	Het
Rab39	A	T	9: 53,686,400	D188E	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Scgb1b19	A	G	7: 33,287,498	I25V	probably benign	Het
Scn9a	A	T	2: 66,484,298	I1692N	probably damaging	Het
Sdk1	G	T	5: 142,084,491	G1137V	probably damaging	Het
Sec16b	A	G	1: 157,565,472	T950A	possibly damaging	Het
Senp2	G	T	16: 22,038,622	R398L	probably damaging	Het
Sfswap	G	T	5: 129,550,593		probably null	Het
Sh3rf1	A	G	8: 61,353,753	T362A	probably damaging	Het
Slc17a1	A	T	13: 23,888,052	I418F	probably benign	Het
Slc1a4	A	T	11: 20,308,587	M284K	probably damaging	Het
Slc5a2	A	T	7: 128,266,395		probably null	Het
Slco5a1	A	G	1: 12,990,122	V125A	probably benign	Het
Smu1	A	G	4: 40,748,600	V230A	probably benign	Het
Sp4	A	G	12: 118,254,404		probably null	Het
Stbd1	A	G	5: 92,605,557	K302R	probably damaging	Het
Stx2	A	T	5: 128,986,417	V268D	probably benign	Het
Tbc1d9b	G	A	11: 50,161,620	A885T	probably benign	Het
Tbce	T	A	13: 14,006,478	D267V	possibly damaging	Het
Tert	T	C	13: 73,627,606	Y159H	probably damaging	Het
Thbs2	T	A	17: 14,670,039	I1102F	possibly damaging	Het
Tmprss7	G	C	16: 45,683,510	A183G	probably benign	Het
Top3b	C	A	16: 16,887,721	P450Q	probably benign	Het
Trpm6	A	T	19: 18,750,045		probably null	Het
Ube4a	T	C	9: 44,925,973	D988G	probably damaging	Het
Vmn1r158	A	T	7: 22,790,300	S161R	probably benign	Het
Vps41	T	C	13: 18,841,252		probably null	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp617	T	A	8: 71,928,189		probably null	Het
Zfp808	C	T	13: 62,171,505	H183Y	probably benign	Het
Zfy1	A	T	Y: 725,496	C756*	probably null	Het
Zswim2	A	T	2: 83,915,607	Y496N	probably damaging	Het

Other mutations in Cped1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Cped1	APN	6	22215523	missense	probably damaging	1.00
IGL00909:Cped1	APN	6	22122427	splice site	probably benign
IGL01434:Cped1	APN	6	22017005	missense	probably damaging	0.99
IGL01572:Cped1	APN	6	22051301	missense	probably benign	0.00
IGL02063:Cped1	APN	6	22138702	missense	probably damaging	0.98
IGL02216:Cped1	APN	6	22059945	missense	probably damaging	1.00
IGL02257:Cped1	APN	6	22145607	missense	possibly damaging	0.86
IGL02541:Cped1	APN	6	22120989	missense	probably benign	0.00
IGL03008:Cped1	APN	6	22233602	missense	probably benign	0.01
IGL03237:Cped1	APN	6	22233596	missense	probably damaging	1.00
PIT4382001:Cped1	UTSW	6	22222450	nonsense	probably null
PIT4812001:Cped1	UTSW	6	22122294	missense	probably benign	0.02
R0048:Cped1	UTSW	6	22119602	missense	probably benign	0.08
R0128:Cped1	UTSW	6	22121039	missense	probably benign	0.00
R0130:Cped1	UTSW	6	22121039	missense	probably benign	0.00
R0267:Cped1	UTSW	6	22119476	missense	probably damaging	0.99
R0374:Cped1	UTSW	6	22222546	splice site	probably benign
R0482:Cped1	UTSW	6	22016958	missense	probably benign	0.32
R0734:Cped1	UTSW	6	22085041	missense	probably damaging	1.00
R1033:Cped1	UTSW	6	22016951	missense	probably damaging	0.99
R1118:Cped1	UTSW	6	22237699	missense	probably benign	0.19
R1181:Cped1	UTSW	6	22215562	missense	probably damaging	0.99
R1300:Cped1	UTSW	6	22119553	missense	probably benign	0.00
R1485:Cped1	UTSW	6	22132388	critical splice donor site	probably null
R1507:Cped1	UTSW	6	22122261	missense	probably damaging	1.00
R1830:Cped1	UTSW	6	22237728	missense	probably damaging	1.00
R1879:Cped1	UTSW	6	22085015	splice site	probably null
R1902:Cped1	UTSW	6	22120981	splice site	probably null
R1991:Cped1	UTSW	6	22233927	missense	probably damaging	1.00
R2020:Cped1	UTSW	6	22143964	missense	probably benign	0.38
R2883:Cped1	UTSW	6	22143979	missense	probably damaging	1.00
R3011:Cped1	UTSW	6	22088696	missense	probably damaging	1.00
R4466:Cped1	UTSW	6	22123652	missense	probably benign	0.29
R4668:Cped1	UTSW	6	22237653	missense	probably benign	0.06
R4808:Cped1	UTSW	6	22088757	missense	probably damaging	1.00
R5402:Cped1	UTSW	6	22143952	missense	probably benign	0.05
R5417:Cped1	UTSW	6	22233580	missense	probably null	0.01
R5741:Cped1	UTSW	6	22123621	missense	probably benign	0.02
R5821:Cped1	UTSW	6	22138682	missense	probably benign	0.00
R5977:Cped1	UTSW	6	22254608	missense	probably damaging	1.00
R6255:Cped1	UTSW	6	22138715	splice site	probably null
R6304:Cped1	UTSW	6	22016923	missense	probably benign	0.14
R6416:Cped1	UTSW	6	22123649	missense	probably damaging	1.00
R6444:Cped1	UTSW	6	21986931	missense	probably benign	0.00
R6617:Cped1	UTSW	6	22215547	nonsense	probably null
R6650:Cped1	UTSW	6	22233976	missense	probably damaging	1.00
R7048:Cped1	UTSW	6	22119470	missense	probably benign	0.36
R7083:Cped1	UTSW	6	22123580	missense	probably benign	0.01
R7234:Cped1	UTSW	6	22254626	missense	probably damaging	0.99
R7387:Cped1	UTSW	6	22059934	missense	probably benign	0.01
R7493:Cped1	UTSW	6	22215513	missense	probably damaging	1.00
R7720:Cped1	UTSW	6	22222431	missense	probably damaging	1.00
R7966:Cped1	UTSW	6	22059954	critical splice donor site	probably null
R8113:Cped1	UTSW	6	22233481	missense	possibly damaging	0.89
R8186:Cped1	UTSW	6	22123588	missense	probably benign	0.01
R8215:Cped1	UTSW	6	22132278	missense	probably damaging	1.00
R8265:Cped1	UTSW	6	22222427	missense	probably benign	0.04
R8280:Cped1	UTSW	6	21986821	missense	unknown
R8286:Cped1	UTSW	6	22254602	missense	probably benign	0.03
R8393:Cped1	UTSW	6	22222466	missense	possibly damaging	0.80
R8503:Cped1	UTSW	6	22145565	missense	probably benign	0.02
R8725:Cped1	UTSW	6	22059942	missense	possibly damaging	0.71
R8727:Cped1	UTSW	6	22059942	missense	possibly damaging	0.71
R8852:Cped1	UTSW	6	22215621	missense	probably damaging	1.00
R8881:Cped1	UTSW	6	22119579	missense	possibly damaging	0.58
R8888:Cped1	UTSW	6	22016963	missense	possibly damaging	0.51
R8983:Cped1	UTSW	6	22138687	missense	probably benign	0.00
R9135:Cped1	UTSW	6	21987013	missense	probably damaging	0.98
X0022:Cped1	UTSW	6	21987046	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TCCCCATAGCTGACACATTG -3'
(R):5'- ACAAACCAAGTTGTCCCTGAGC -3'

Sequencing Primer
(F):5'- CTGACACATTGGAAATCAGGCTG -3'
(R):5'- AAGTTGTCCCTGAGCACACG -3'

Posted On

2019-11-26