Mutagenetix > Incidental Mutation

Incidental Mutation 'R1184:Dcbld2'

101988

Institutional Source

Beutler Lab

Gene Symbol

Dcbld2

Ensembl Gene

ENSMUSG00000035107

Gene Name

discoidin, CUB and LCCL domain containing 2

Synonyms

Esdn, 1700055P21Rik, CLCP1

MMRRC Submission

039256-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58408443-58469727 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 58449841 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000039915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046663]

AlphaFold

Q91ZV3

Predicted Effect

probably null
Transcript: ENSMUST00000046663

SMART Domains

Protein: ENSMUSP00000039915
Gene: ENSMUSG00000035107

Domain	Start	End	E-Value	Type
low complexity region	2	34	N/A	INTRINSIC
CUB	69	184	4.26e-37	SMART
LCCL	188	273	4.74e-37	SMART
FA58C	288	446	4.08e-28	SMART
transmembrane domain	522	544	N/A	INTRINSIC

Meta Mutation Damage Score

0.9502

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (83/83)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced postnatal angiogenesis and impaired recovery from femoral artery ligation with impaired blood flow and decreased capillary density. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,160,912	R7G	probably damaging	Het
2410089E03Rik	G	T	15: 8,216,487	V1448L	probably benign	Het
Ahdc1	T	A	4: 133,065,396	M1316K	probably benign	Het
Alkal1	A	G	1: 6,389,488	Y96C	probably damaging	Het
Arhgap17	T	C	7: 123,314,690	Y199C	probably damaging	Het
Bmp2	T	C	2: 133,561,468	V313A	probably damaging	Het
Cacna1b	C	T	2: 24,687,745		probably null	Het
Cars	T	C	7: 143,587,139	T141A	probably damaging	Het
Ccdc57	A	G	11: 120,873,811		probably benign	Het
Cenpe	T	C	3: 135,264,422		probably null	Het
Chadl	T	C	15: 81,693,057	S198G	probably benign	Het
Chd6	G	C	2: 161,030,802	P286R	probably damaging	Het
Clec4a4	G	T	6: 123,012,712	W104L	probably benign	Het
Coq4	G	A	2: 29,788,334		probably benign	Het
Crtc2	T	A	3: 90,262,633	Y445*	probably null	Het
Dapk1	A	T	13: 60,696,298	I44F	probably damaging	Het
Dcun1d4	T	C	5: 73,511,112		probably benign	Het
Depdc7	A	T	2: 104,730,178		probably benign	Het
Dna2	A	G	10: 62,959,198	D416G	probably benign	Het
Dnah2	A	T	11: 69,499,190	I743N	probably damaging	Het
Dnah9	A	G	11: 66,084,612		probably null	Het
Dock3	A	G	9: 106,969,800	S877P	probably damaging	Het
Eif3l	T	A	15: 79,075,766		probably null	Het
Epha5	A	T	5: 84,071,275		probably null	Het
Ffar3	T	A	7: 30,855,104	N264Y	probably damaging	Het
Fyb	A	T	15: 6,638,900	I525F	probably damaging	Het
Fyco1	A	G	9: 123,819,153	F1239L	probably damaging	Het
Gcdh	T	C	8: 84,893,442		probably benign	Het
Gk5	T	C	9: 96,150,420		probably benign	Het
Gm21188	A	T	13: 120,035,131	N67K	probably benign	Het
Gm8979	A	G	7: 106,083,952	V32A	probably benign	Het
Grm1	A	G	10: 10,720,034	Y617H	probably benign	Het
Hhipl2	A	T	1: 183,425,134	I131L	probably damaging	Het
Larp4b	T	C	13: 9,166,309		probably benign	Het
Lrig2	T	A	3: 104,490,911	I301F	possibly damaging	Het
Man2a2	A	T	7: 80,362,965	I600N	possibly damaging	Het
Mylk2	G	C	2: 152,913,741		probably null	Het
Myo6	C	T	9: 80,286,382	Q870*	probably null	Het
Napg	T	G	18: 62,994,338	H204Q	probably benign	Het
Neb	G	A	2: 52,263,947	T2384M	probably damaging	Het
Nek10	A	G	14: 14,931,325		probably benign	Het
Olfr1216	A	G	2: 89,013,713	M117T	probably damaging	Het
Olfr1440	T	C	19: 12,394,857	V198A	probably benign	Het
Olfr1462	T	G	19: 13,191,375	L236R	probably damaging	Het
Olfr748	A	C	14: 50,710,614	T95P	probably benign	Het
Pclo	A	G	5: 14,522,262	T554A	unknown	Het
Perm1	C	A	4: 156,217,314	T105K	probably damaging	Het
Pik3r1	T	C	13: 101,686,358		probably null	Het
Pld5	A	G	1: 176,044,896	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,831,333		probably benign	Het
Ptpn12	A	C	5: 20,998,356	S475A	possibly damaging	Het
Ptprt	A	G	2: 161,927,772	V391A	possibly damaging	Het
Rac2	T	G	15: 78,565,945	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,977,380		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sebox	A	T	11: 78,503,849	T47S	probably damaging	Het
Sema4b	A	G	7: 80,224,640	T593A	probably benign	Het
Serpina3a	C	T	12: 104,116,528	Q187*	probably null	Het
Serpinb1a	T	C	13: 32,843,216	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,259,774	E259A	probably benign	Het
Slc30a3	T	A	5: 31,090,166	H44L	probably damaging	Het
Smarca2	T	C	19: 26,770,933		probably benign	Het
Snrnp200	T	A	2: 127,236,817	C1801S	probably damaging	Het
Soat1	G	A	1: 156,442,374		probably null	Het
Spink6	T	C	18: 44,071,538		probably benign	Het
Spta1	G	A	1: 174,184,690	R354H	probably damaging	Het
Tbck	T	A	3: 132,837,972	H861Q	probably benign	Het
Tgfbrap1	G	A	1: 43,049,696	T849M	possibly damaging	Het
Tnrc6a	A	G	7: 123,170,340	N451S	possibly damaging	Het
Trim36	T	C	18: 46,196,251	T41A	probably damaging	Het
Trmt112	C	A	19: 6,910,353		probably benign	Het
Trpc4ap	A	G	2: 155,645,070		probably benign	Het
Ttll7	C	T	3: 146,939,991	P535S	probably damaging	Het
Ttn	A	T	2: 76,861,432		probably benign	Het
Txndc11	C	T	16: 11,128,500	R149Q	probably benign	Het
Ubr4	C	T	4: 139,437,198		probably benign	Het
Usp30	G	A	5: 114,103,827		probably null	Het
Vmn1r195	A	G	13: 22,279,011	Y217C	probably damaging	Het
Vps33b	T	A	7: 80,282,486	D135E	probably benign	Het
Vrk2	A	G	11: 26,483,331		probably benign	Het
Wdr81	G	T	11: 75,452,983	P486Q	probably damaging	Het
Zfp788	T	C	7: 41,648,326	Y129H	probably damaging	Het

Other mutations in Dcbld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01456:Dcbld2	APN	16	58408873	missense	possibly damaging	0.75
IGL01978:Dcbld2	APN	16	58464319	missense	probably benign	0.00
IGL02143:Dcbld2	APN	16	58448526	critical splice donor site	probably null
IGL02953:Dcbld2	APN	16	58451737	missense	probably benign	0.29
IGL03109:Dcbld2	APN	16	58456402	missense	probably benign	0.06
IGL03131:Dcbld2	APN	16	58451688	missense	probably benign	0.00
R0183:Dcbld2	UTSW	16	58445359	missense	possibly damaging	0.70
R0305:Dcbld2	UTSW	16	58448939	missense	probably damaging	1.00
R0316:Dcbld2	UTSW	16	58433445	missense	probably damaging	1.00
R0371:Dcbld2	UTSW	16	58450823	missense	probably benign	0.09
R0548:Dcbld2	UTSW	16	58455145	missense	probably damaging	0.98
R0751:Dcbld2	UTSW	16	58449841	critical splice donor site	probably null
R0906:Dcbld2	UTSW	16	58455247	missense	probably damaging	1.00
R1557:Dcbld2	UTSW	16	58465350	missense	possibly damaging	0.49
R1995:Dcbld2	UTSW	16	58456332	missense	probably benign
R3930:Dcbld2	UTSW	16	58465338	missense	probably damaging	1.00
R3931:Dcbld2	UTSW	16	58465338	missense	probably damaging	1.00
R4080:Dcbld2	UTSW	16	58465373	missense	probably damaging	1.00
R4385:Dcbld2	UTSW	16	58463066	missense	probably damaging	0.96
R4615:Dcbld2	UTSW	16	58456094	missense	probably benign	0.03
R4739:Dcbld2	UTSW	16	58460976	missense	probably damaging	1.00
R4963:Dcbld2	UTSW	16	58465782	missense	probably benign
R4968:Dcbld2	UTSW	16	58424711	missense	probably damaging	1.00
R5419:Dcbld2	UTSW	16	58455258	missense	probably damaging	0.99
R5684:Dcbld2	UTSW	16	58449809	missense	possibly damaging	0.90
R5737:Dcbld2	UTSW	16	58460985	missense	probably damaging	1.00
R6277:Dcbld2	UTSW	16	58451756	missense	probably damaging	0.97
R6277:Dcbld2	UTSW	16	58465503	missense	probably damaging	1.00
R6468:Dcbld2	UTSW	16	58433373	nonsense	probably null
R6753:Dcbld2	UTSW	16	58456130	missense	possibly damaging	0.94
R7213:Dcbld2	UTSW	16	58450763	missense	probably benign	0.02
R7360:Dcbld2	UTSW	16	58465320	splice site	probably null
R7555:Dcbld2	UTSW	16	58448718	splice site	probably null
R7570:Dcbld2	UTSW	16	58424569	missense	possibly damaging	0.86
R7593:Dcbld2	UTSW	16	58424578	missense	possibly damaging	0.82
R8072:Dcbld2	UTSW	16	58463097	nonsense	probably null
R8175:Dcbld2	UTSW	16	58433347	missense	possibly damaging	0.63
R8193:Dcbld2	UTSW	16	58464010	splice site	probably null
R8323:Dcbld2	UTSW	16	58463110	critical splice donor site	probably null
R8804:Dcbld2	UTSW	16	58461049	critical splice donor site	probably benign
R8887:Dcbld2	UTSW	16	58408907	missense	probably damaging	1.00
R8955:Dcbld2	UTSW	16	58450762	missense
R8971:Dcbld2	UTSW	16	58456352	missense	probably benign
R9335:Dcbld2	UTSW	16	58451778	missense	probably benign	0.01
R9384:Dcbld2	UTSW	16	58465563	missense	probably damaging	1.00
R9496:Dcbld2	UTSW	16	58450801	missense	probably benign	0.00
R9517:Dcbld2	UTSW	16	58433456	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCACCTCGTTCTCTGAAAACACACG -3'
(R):5'- AGCATCAGACCAGTGCAATGAACTC -3'

Sequencing Primer
(F):5'- CTGAAAACACACGTCTTCATGTTC -3'
(R):5'- TCCCCAGTGAATAGTGAACTTC -3'

Posted On

2014-01-15