Mutagenetix > Incidental Mutation

Incidental Mutation 'R6468:Dcbld2'

516450

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6468 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58408443-58469727 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 58433373 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 158 (K158*)

Ref Sequence

ENSEMBL: ENSMUSP00000039915 (fasta)

Gene Model

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

AlphaFold

Q91ZV3

Predicted Effect

probably null
Transcript: ENSMUST00000046663
AA Change: K158*

SMART Domains

Protein: ENSMUSP00000039915
Gene: ENSMUSG00000035107
AA Change: K158*

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (57/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	G	T	10: 82,295,316	T620K	probably benign	Het
4932438A13Rik	T	C	3: 37,008,443	I3368T	probably damaging	Het
Adamtsl5	A	G	10: 80,341,913	V305A	possibly damaging	Het
Adgrl4	A	G	3: 151,492,375	T91A	probably benign	Het
Ano6	A	G	15: 95,967,714	I860V	probably benign	Het
B3galnt1	A	G	3: 69,575,533	S132P	probably damaging	Het
Btbd10	A	T	7: 113,347,059	V33E	probably benign	Het
Cacna1g	A	T	11: 94,439,722	V989D	probably damaging	Het
Celsr3	A	G	9: 108,835,790	D1807G	probably benign	Het
Chd6	A	G	2: 161,013,067	M807T	probably damaging	Het
Cpxm2	T	C	7: 132,070,860	D320G	probably damaging	Het
Cryzl1	A	C	16: 91,692,525		probably null	Het
Depdc5	A	G	5: 32,912,231	N437S	probably benign	Het
Dock7	G	A	4: 98,967,227	S1496L	probably benign	Het
Eea1	T	G	10: 96,028,412	I931R	probably benign	Het
Eif2ak4	C	A	2: 118,436,241	L714I	probably damaging	Het
Enpep	A	G	3: 129,331,860		probably null	Het
Fam83b	T	A	9: 76,502,131	K238*	probably null	Het
Fam83f	A	G	15: 80,692,111	Y321C	possibly damaging	Het
Fanci	A	G	7: 79,417,939	I42V	probably benign	Het
Flg2	A	T	3: 93,214,421	R1299S	unknown	Het
Gak	G	T	5: 108,623,336	C102*	probably null	Het
Gcnt7	A	G	2: 172,454,073	L277P	probably damaging	Het
Gucy2d	A	G	7: 98,449,961	E329G	probably benign	Het
Hacd1	T	C	2: 14,035,944	I167V	probably damaging	Het
Hdlbp	T	A	1: 93,417,667	D662V	possibly damaging	Het
Hspa4	A	T	11: 53,265,056	V674E	probably benign	Het
Hunk	A	G	16: 90,493,432	Q442R	possibly damaging	Het
Lce1j	A	T	3: 92,789,422	C16*	probably null	Het
Lrat	A	T	3: 82,903,492	M74K	probably damaging	Het
Lrig2	G	A	3: 104,467,193	R191C	probably damaging	Het
Lrrc37a	A	C	11: 103,460,840	F2558L	unknown	Het
Mctp1	T	A	13: 76,731,811		probably null	Het
Mecom	T	A	3: 30,140,386		probably benign	Het
Mgst1	A	G	6: 138,141,587		probably null	Het
Ms4a15	T	G	19: 10,993,170	E3A	probably benign	Het
Myo1d	T	C	11: 80,557,474	I942V	probably benign	Het
Neu2	A	G	1: 87,596,878	Y195C	probably damaging	Het
Nipa1	A	T	7: 56,019,504	V22E	probably benign	Het
Olfr1061	T	A	2: 86,414,037	N5I	probably damaging	Het
Olfr733	A	T	14: 50,298,467	L281I	probably benign	Het
Olfr781	T	C	10: 129,333,711	S277P	possibly damaging	Het
Pik3r4	A	G	9: 105,685,190	T1223A	possibly damaging	Het
Ppl	T	C	16: 5,092,441	D811G	probably damaging	Het
Prep	T	A	10: 45,115,107	Y290N	probably damaging	Het
Ptk6	A	T	2: 181,199,102	H215Q	probably benign	Het
Rad50	A	G	11: 53,692,144	I474T	possibly damaging	Het
Rnf213	T	A	11: 119,452,687	V3626E	possibly damaging	Het
Scn4a	C	T	11: 106,345,676	V253M	probably damaging	Het
Snta1	T	A	2: 154,377,149	D422V	probably damaging	Het
Stk38	A	G	17: 28,984,112	L160P	probably benign	Het
Tapbp	T	C	17: 33,926,098	F323S	probably damaging	Het
Uggt1	C	T	1: 36,173,450	R937Q	probably benign	Het
Vash2	G	A	1: 190,978,287	P57L	probably damaging	Het
Vmn1r4	G	A	6: 56,956,867	V119I	probably benign	Het
Vmn2r74	T	C	7: 85,961,391	D31G	probably benign	Het
Zfp114	T	C	7: 24,177,781	V16A	possibly 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
R1184:Dcbld2	UTSW	16	58449841	critical splice donor site	probably null
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
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'- TCTGCAATGCCTAGTTCTAAAGC -3'
(R):5'- CAGATGGCGGGCATTTGAATC -3'

Sequencing Primer
(F):5'- GCTATTTCATCATGGTTTGGTAAAGC -3'
(R):5'- GCGGGCATTTGAATCATTTCC -3'

Posted On

2018-05-21