Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Cped1'

34991

Institutional Source

Beutler Lab

Gene Symbol

Cped1

Ensembl Gene

ENSMUSG00000062980

Gene Name

cadherin-like and PC-esterase domain containing 1

Synonyms

A430107O13Rik

MMRRC Submission

038493-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0267 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

21985916-22256404 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22119476 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 311 (F311L)

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: F311L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111040
Gene: ENSMUSG00000062980
AA Change: F311L

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: F311L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111041
Gene: ENSMUSG00000062980
AA Change: F311L

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 damaging
Transcript: ENSMUST00000137437
AA Change: F173L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119808
Gene: ENSMUSG00000062980
AA Change: F173L

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

Meta Mutation Damage Score

0.6404

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687		probably benign	Het
Alox15	T	A	11: 70,346,153	H393L	probably damaging	Het
Aox2	A	G	1: 58,339,446		probably benign	Het
Appbp2	T	C	11: 85,201,462	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,493,207	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,517,042	D737V	probably damaging	Het
C9	T	C	15: 6,467,458	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044		probably benign	Het
Chst1	C	A	2: 92,613,606	P141Q	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483		probably benign	Het
Dmbx1	C	T	4: 115,918,112	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,562,756	L174P	probably damaging	Het
Foxg1	A	G	12: 49,385,582	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734		probably benign	Het
Gbp2	T	C	3: 142,630,106	V189A	probably benign	Het
Gins4	T	C	8: 23,229,410		probably benign	Het
Gm12789	A	G	4: 101,988,122	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089		probably benign	Het
Gtpbp3	T	C	8: 71,491,497	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028	M137L	probably benign	Het
Morc2a	T	C	11: 3,678,567	I340T	probably benign	Het
Myo7a	A	C	7: 98,054,624	I1969S	probably benign	Het
Olfr1471	T	A	19: 13,445,428	C139S	probably damaging	Het
Olfr304	T	C	7: 86,386,267	E131G	possibly damaging	Het
Olfr429	A	G	1: 174,089,166	N42S	probably damaging	Het
Pclo	T	C	5: 14,681,180	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135	V223I	probably damaging	Het
Sgsm3	T	G	15: 81,006,602	M119R	probably damaging	Het
Slc6a7	T	A	18: 60,996,711	M608L	probably benign	Het
Slit2	A	G	5: 48,182,331		probably benign	Het
Steap2	T	A	5: 5,673,561	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675		probably benign	Het
Trpm6	C	A	19: 18,823,378	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,482,618		probably null	Het
Vars	T	C	17: 35,011,596		probably benign	Het
Vip	A	T	10: 5,644,004	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,952,100	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,308,930	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064	A427V	probably benign	Het
Zfp692	T	A	11: 58,314,314	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,828,402	I384N	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
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
R7747:Cped1	UTSW	6	22143974	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'- CCGTGTTGGGCACACAGCTTT -3'
(R):5'- tgtctttgtctGTCTCTTGCTCACCTAT -3'

Sequencing Primer
(F):5'- TGACTGATAGAGCCACATGTC -3'
(R):5'- tctGTCTCTTGCTCACCTATTGAAG -3'

Posted On

2013-05-09