Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Dcbld2'

383753

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

042560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58408443-58469727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58465782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 768 (I768T)

Ref Sequence

ENSEMBL: ENSMUSP00000039915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046663] [ENSMUST00000114357] [ENSMUST00000114358] [ENSMUST00000137035]

AlphaFold

Q91ZV3

Predicted Effect

probably benign
Transcript: ENSMUST00000046663
AA Change: I768T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039915
Gene: ENSMUSG00000035107
AA Change: I768T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114357

SMART Domains

Protein: ENSMUSP00000109997
Gene: ENSMUSG00000022747

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Glyco_transf_29	63	329	6.2e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114358

SMART Domains

Protein: ENSMUSP00000109998
Gene: ENSMUSG00000022747

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Glyco_transf_29	71	329	7.1e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135415

Predicted Effect

probably benign
Transcript: ENSMUST00000137035

SMART Domains

Protein: ENSMUSP00000115756
Gene: ENSMUSG00000022747

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Glyco_transf_29	63	329	6.2e-70	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150817

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,163,414	I133N	probably benign	Het
Abca15	T	C	7: 120,360,919	S642P	probably damaging	Het
Abcg5	G	T	17: 84,660,141	Y410*	probably null	Het
Anapc7	T	A	5: 122,422,606	M10K	probably damaging	Het
Ank2	G	A	3: 127,032,096	T418M	probably benign	Het
Arhgap17	T	C	7: 123,308,360	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,994,626	T381A	probably damaging	Het
Cep89	T	G	7: 35,403,152	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,316,382	D309G	probably damaging	Het
Dgke	A	G	11: 89,050,802	V249A	possibly damaging	Het
Dnah9	T	C	11: 66,084,611		probably null	Het
Dnajc3	C	A	14: 118,978,173	H502N	probably benign	Het
Dsp	A	G	13: 38,197,870	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,065,461	D208G	probably benign	Het
Evc	C	T	5: 37,322,049		probably null	Het
Fam98a	A	G	17: 75,538,982	S285P	probably damaging	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm15293	C	T	8: 21,201,758	S52F	probably damaging	Het
Gsdmc	A	G	15: 63,804,380		probably null	Het
Gtpbp4	C	A	13: 8,985,217	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,671,738	Y77H	probably benign	Het
Irx2	T	C	13: 72,632,610	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,752,253	W396L	probably damaging	Het
Kif27	T	C	13: 58,328,994	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,450,801		probably null	Het
Lcn5	A	G	2: 25,661,414	I182V	probably benign	Het
Ldb3	T	G	14: 34,566,858	S252R	probably damaging	Het
March8	G	A	6: 116,386,271		probably benign	Het
Mdn1	C	A	4: 32,756,512	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,103,264	H236L	probably benign	Het
Mlph	A	G	1: 90,939,390	D378G	probably damaging	Het
Msi1	T	A	5: 115,450,885	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,163,250		probably benign	Het
Mtpap	T	C	18: 4,375,638	V6A	probably benign	Het
Nedd1	C	A	10: 92,695,031	D399Y	probably damaging	Het
Ninl	A	G	2: 150,939,909	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nle1	A	G	11: 82,904,937	V228A	probably benign	Het
Npy4r	T	A	14: 34,147,016	D105V	probably damaging	Het
Olfr1366	A	G	13: 21,537,982	Y8H	probably damaging	Het
Palld	C	T	8: 61,703,210	V464M	probably damaging	Het
Pclo	T	C	5: 14,669,221	V1124A	unknown	Het
Pex1	T	A	5: 3,609,924	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,504,025	S773N	probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Prmt9	A	G	8: 77,555,729	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,015,708		probably null	Het
Rbm19	T	A	5: 120,141,566	M766K	probably damaging	Het
Rdh11	A	G	12: 79,188,606	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,281	V335A	probably damaging	Het
Sema6a	T	C	18: 47,298,251	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,160,782	T593I	probably benign	Het
Slco1a1	A	G	6: 141,923,099	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826	S215P	probably damaging	Het
Smyd2	A	T	1: 189,882,188	V381E	probably damaging	Het
Smyd4	C	T	11: 75,382,294	S60L	probably benign	Het
Spata18	T	A	5: 73,678,993	V419E	probably damaging	Het
Terb1	A	G	8: 104,482,318	L376S	probably damaging	Het
Timd2	T	C	11: 46,682,790	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,320,605	T461K	probably benign	Het
Tpp2	G	A	1: 43,992,268	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,753,945	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,198,813	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,540,763	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,375,141	Q652L	probably damaging	Het
Vwf	C	T	6: 125,667,483	R2434*	probably null	Het
Wdhd1	A	G	14: 47,268,689	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,408,495	C439S	probably damaging	Het
Zfp709	A	G	8: 71,889,788	T354A	probably benign	Het
Zswim2	A	T	2: 83,925,110	I149N	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
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
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'- CCACCTTCAAAACTGCAGGG -3'
(R):5'- GTAACCCCTTTAAAGCAAGATGGC -3'

Sequencing Primer
(F):5'- CGCTTTAGTGGGAACTTACAACACTC -3'
(R):5'- CAAGGCAAGTAGTTTCTTGTACCTCG -3'

Posted On

2016-04-27