Mutagenetix > Incidental Mutation

Incidental Mutation 'R1902:Cped1'

212321

Institutional Source

Beutler Lab

Gene Symbol

Cped1

Ensembl Gene

ENSMUSG00000062980

Gene Name

cadherin-like and PC-esterase domain containing 1

Synonyms

A430107O13Rik

MMRRC Submission

039922-MU

Accession Numbers

Essential gene?

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

Stock #

R1902 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21985915-22256403 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 22120980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

B2RX70

Predicted Effect

probably null
Transcript: ENSMUST00000115382

SMART Domains

Protein: ENSMUSP00000111040
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	133	147	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115382

SMART Domains

Protein: ENSMUSP00000111040
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	133	147	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115383

SMART Domains

Protein: ENSMUSP00000111041
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	133	147	N/A	INTRINSIC
Pfam:Cadherin-like	574	663	1e-9	PFAM
Pfam:PC-Esterase	753	1018	2e-26	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000137437

SMART Domains

Protein: ENSMUSP00000119808
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	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 null
Transcript: ENSMUST00000137437

SMART Domains

Protein: ENSMUSP00000119808
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	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: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	T	12: 18,584,004 (GRCm39)	Q355*	probably null	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Adra1a	T	C	14: 66,875,684 (GRCm39)	S220P	probably benign	Het
Ano2	A	T	6: 125,849,647 (GRCm39)	E126D	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgap45	C	A	10: 79,861,300 (GRCm39)	Q488K	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Atxn7l3b	A	G	10: 112,764,578 (GRCm39)	I17T	probably benign	Het
Bpifb9a	A	T	2: 154,103,911 (GRCm39)	N118I	probably benign	Het
Btbd9	A	T	17: 30,749,202 (GRCm39)	D37E	probably damaging	Het
C8a	T	C	4: 104,713,798 (GRCm39)		probably null	Het
Capn13	G	A	17: 73,633,356 (GRCm39)	S535F	probably damaging	Het
Carns1	G	T	19: 4,216,337 (GRCm39)	P615Q	probably damaging	Het
Casz1	T	C	4: 149,020,652 (GRCm39)	I479T	possibly damaging	Het
Ccdc88a	G	T	11: 29,411,788 (GRCm39)	M532I	probably benign	Het
Cdc42bpb	T	G	12: 111,292,450 (GRCm39)	S362R	probably damaging	Het
Ceacam11	A	T	7: 17,709,252 (GRCm39)	H150L	probably benign	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Cpeb1	T	C	7: 81,021,867 (GRCm39)	D92G	probably benign	Het
Csf1r	A	G	18: 61,263,213 (GRCm39)	T896A	probably damaging	Het
Csf3r	T	C	4: 125,936,711 (GRCm39)	F658S	probably damaging	Het
Cts6	A	T	13: 61,349,329 (GRCm39)	Y126*	probably null	Het
Cul7	T	C	17: 46,966,666 (GRCm39)	L365P	probably damaging	Het
Cxcl5	T	C	5: 90,907,644 (GRCm39)	V72A	probably damaging	Het
Cyp4v3	T	A	8: 45,759,989 (GRCm39)	H521L	probably benign	Het
Dct	T	C	14: 118,271,690 (GRCm39)	N380S	probably benign	Het
Dnah1	T	C	14: 31,041,716 (GRCm39)	D85G	probably damaging	Het
Dnah7a	T	C	1: 53,574,637 (GRCm39)	D1709G	probably damaging	Het
Dnai1	A	T	4: 41,625,319 (GRCm39)	K428*	probably null	Het
Dsc1	A	T	18: 20,229,045 (GRCm39)	V415D	probably damaging	Het
E2f8	T	C	7: 48,520,920 (GRCm39)	H467R	probably benign	Het
Eddm3b	T	A	14: 51,354,321 (GRCm39)	I103N	probably damaging	Het
Gal3st2c	T	G	1: 93,936,611 (GRCm39)	N185K	probably damaging	Het
Ganc	T	C	2: 120,276,963 (GRCm39)	L675P	probably damaging	Het
Garin3	A	T	11: 46,297,838 (GRCm39)	T381S	probably benign	Het
Gdf9	G	A	11: 53,327,780 (GRCm39)	M245I	probably benign	Het
Gm21886	G	A	18: 80,132,633 (GRCm39)	T175I	probably damaging	Het
Gria2	A	G	3: 80,629,415 (GRCm39)	L269P	probably damaging	Het
Grm8	T	C	6: 27,429,481 (GRCm39)	Y471C	probably damaging	Het
Gucy2g	T	A	19: 55,198,669 (GRCm39)	T825S	probably benign	Het
H2-T13	A	T	17: 36,394,845 (GRCm39)	M16K	probably damaging	Het
Iffo2	T	C	4: 139,335,012 (GRCm39)	S124P	probably damaging	Het
Igf1r	T	C	7: 67,850,997 (GRCm39)	Y931H	possibly damaging	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Il23r	A	C	6: 67,400,718 (GRCm39)	D537E	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Itgb4	T	C	11: 115,871,564 (GRCm39)	V179A	probably damaging	Het
Itpr2	T	A	6: 146,131,201 (GRCm39)	H1968L	probably damaging	Het
Kdm4a	A	G	4: 118,017,596 (GRCm39)	V490A	probably benign	Het
Kif13a	A	T	13: 46,941,638 (GRCm39)	D946E	probably benign	Het
Klhl22	T	A	16: 17,589,651 (GRCm39)	I104N	probably damaging	Het
Klk6	A	C	7: 43,475,481 (GRCm39)	M1L	probably benign	Het
Krt78	A	T	15: 101,855,398 (GRCm39)	C804*	probably null	Het
Larp7	A	T	3: 127,334,227 (GRCm39)	N533K	probably damaging	Het
Lrit3	T	C	3: 129,584,895 (GRCm39)	T288A	probably benign	Het
Lrp11	T	A	10: 7,499,544 (GRCm39)	L245Q	probably damaging	Het
Lrp1b	T	C	2: 40,750,673 (GRCm39)	S2964G	probably damaging	Het
Lrrc66	C	T	5: 73,764,965 (GRCm39)	V693M	probably damaging	Het
Macf1	T	A	4: 123,364,958 (GRCm39)	M3268L	probably benign	Het
Mad1l1	A	G	5: 140,289,443 (GRCm39)	S161P	possibly damaging	Het
Mettl25	A	G	10: 105,661,948 (GRCm39)	S341P	probably damaging	Het
Morc3	A	G	16: 93,667,385 (GRCm39)	T588A	probably damaging	Het
Mospd3	A	G	5: 137,598,677 (GRCm39)	S21P	probably damaging	Het
Mrpl57	T	A	14: 58,064,186 (GRCm39)	F71L	probably damaging	Het
Mtbp	T	C	15: 55,470,111 (GRCm39)	L594S	probably damaging	Het
Mthfd2	T	C	6: 83,283,713 (GRCm39)	N323S	probably damaging	Het
Muc5b	G	T	7: 141,417,842 (GRCm39)	S3596I	possibly damaging	Het
Mug1	A	G	6: 121,858,780 (GRCm39)	D1166G	probably benign	Het
Nav1	T	G	1: 135,400,148 (GRCm39)	N474T	probably benign	Het
Ncoa1	A	T	12: 4,389,049 (GRCm39)	D75E	possibly damaging	Het
Ncor1	A	C	11: 62,228,984 (GRCm39)	I958S	probably damaging	Het
Nefm	T	C	14: 68,361,563 (GRCm39)	S234G	probably benign	Het
Nlrp4c	T	C	7: 6,068,818 (GRCm39)	S240P	probably damaging	Het
Nox3	C	T	17: 3,720,292 (GRCm39)	V298M	probably damaging	Het
Ntn4	A	G	10: 93,543,234 (GRCm39)	D320G	possibly damaging	Het
Nudt13	C	G	14: 20,360,709 (GRCm39)	T174R	probably damaging	Het
Odr4	T	A	1: 150,264,360 (GRCm39)		probably null	Het
Opn1sw	T	A	6: 29,379,803 (GRCm39)	N144Y	possibly damaging	Het
Or10al3	T	A	17: 38,012,312 (GRCm39)	H250Q	probably damaging	Het
Or10g3	T	G	14: 52,610,174 (GRCm39)	Q112P	possibly damaging	Het
Or1l8	T	C	2: 36,817,197 (GRCm39)	I310V	probably benign	Het
Or2a52	T	A	6: 43,144,657 (GRCm39)		probably null	Het
Or4a72	A	T	2: 89,405,947 (GRCm39)	L41Q	possibly damaging	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Or5g25	T	C	2: 85,478,201 (GRCm39)	S155G	possibly damaging	Het
Or6c216	G	T	10: 129,678,375 (GRCm39)	P179T	probably benign	Het
Or6n2	T	C	1: 173,897,692 (GRCm39)	V276A	probably damaging	Het
Or8g4	T	C	9: 39,662,102 (GRCm39)	V140A	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Parp14	C	T	16: 35,673,888 (GRCm39)		probably null	Het
Pde3a	C	A	6: 141,444,496 (GRCm39)	N1101K	probably benign	Het
Plcb1	G	A	2: 134,655,533 (GRCm39)	V38I	possibly damaging	Het
Plec	T	A	15: 76,059,751 (GRCm39)	E3417D	probably damaging	Het
Ppfibp2	C	T	7: 107,345,585 (GRCm39)	P869L	probably damaging	Het
Ppp1r12a	T	A	10: 108,034,752 (GRCm39)	I99N	probably damaging	Het
Pramel5	G	A	4: 144,000,433 (GRCm39)	Q48*	probably null	Het
Prr13	C	A	15: 102,369,133 (GRCm39)		probably benign	Het
Psg22	T	A	7: 18,458,363 (GRCm39)	Y312*	probably null	Het
Ptchd4	A	T	17: 42,814,507 (GRCm39)	I803L	probably benign	Het
Rasa4	A	G	5: 136,120,092 (GRCm39)	D56G	probably benign	Het
Rif1	T	A	2: 52,006,685 (GRCm39)	N2206K	possibly damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Samd4	T	C	14: 47,311,585 (GRCm39)	F81S	probably damaging	Het
Sh3pxd2b	T	C	11: 32,373,559 (GRCm39)	*909Q	probably null	Het
Slc25a45	A	G	19: 5,934,550 (GRCm39)	R173G	probably damaging	Het
Smarca1	G	A	X: 46,938,840 (GRCm39)	Q723*	probably null	Het
Smoc1	T	C	12: 81,151,445 (GRCm39)	I54T	probably benign	Het
Spef2	G	T	15: 9,607,463 (GRCm39)	R1319S	probably damaging	Het
Steap3	T	G	1: 120,169,464 (GRCm39)	I240L	probably benign	Het
Stmn4	C	T	14: 66,593,058 (GRCm39)	L13F	probably damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Syt3	T	C	7: 44,039,940 (GRCm39)	S58P	possibly damaging	Het
Tas2r125	T	C	6: 132,887,139 (GRCm39)	F176L	probably benign	Het
Tbc1d19	T	A	5: 53,986,695 (GRCm39)	C35S	probably benign	Het
Tcaf3	T	C	6: 42,570,486 (GRCm39)	E422G	possibly damaging	Het
Tekt4	T	A	17: 25,690,832 (GRCm39)	F46Y	possibly damaging	Het
Tnfaip3	T	C	10: 18,883,937 (GRCm39)	K148E	probably benign	Het
Trrap	T	G	5: 144,752,863 (GRCm39)	I1813R	probably damaging	Het
Ttc29	A	G	8: 78,978,361 (GRCm39)	E137G	probably benign	Het
Tubgcp6	C	A	15: 89,000,444 (GRCm39)	R307L	possibly damaging	Het
Tyro3	T	C	2: 119,632,176 (GRCm39)	I81T	possibly damaging	Het
Upp2	T	G	2: 58,661,464 (GRCm39)	M71R	probably damaging	Het
Utp20	G	T	10: 88,588,888 (GRCm39)	T2427K	probably benign	Het
Vcl	T	A	14: 21,032,767 (GRCm39)	L122Q	probably damaging	Het
Vmn1r213	A	C	13: 23,196,476 (GRCm39)	N353T	possibly damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zfp869	T	C	8: 70,160,088 (GRCm39)	K162E	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
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'- TGCAAAATGGAGGCCTATTTG -3'
(R):5'- TTAGGAGCCATGGGTGCATC -3'

Sequencing Primer
(F):5'- AATGGAGGCCTATTTGCATTTTC -3'
(R):5'- CAGCCTGTACTGACTGCAATG -3'

Posted On

2014-06-30