Mutagenetix > Incidental Mutation

Incidental Mutation 'R1995:Dcbld2'

225706

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

040005-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1995 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58408443-58469727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58456332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 495 (E495D)

Ref Sequence

ENSEMBL: ENSMUSP00000039915 (fasta)

Gene Model

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

AlphaFold

Q91ZV3

Predicted Effect

probably benign
Transcript: ENSMUST00000046663
AA Change: E495D

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

SMART Domains

Protein: ENSMUSP00000039915
Gene: ENSMUSG00000035107
AA Change: E495D

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

noncoding transcript
Transcript: ENSMUST00000130409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150817

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtpbp1	T	G	13: 59,531,058	K145N	probably damaging	Het
AY358078	T	A	14: 51,826,062	D388E	probably damaging	Het
Btbd9	A	G	17: 30,274,930	Y496H	possibly damaging	Het
Catsperb	T	A	12: 101,602,767	N899K	possibly damaging	Het
Ccdc129	T	C	6: 55,968,709	I805T	probably benign	Het
Cenpl	T	C	1: 161,078,424	S123P	probably damaging	Het
Cep120	G	A	18: 53,740,136	T41I	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Cnbd1	G	A	4: 19,055,112	P105S	possibly damaging	Het
Col6a1	T	C	10: 76,721,956	N149D	probably damaging	Het
Ctnna3	T	A	10: 63,820,364	V241D	probably damaging	Het
Dmp1	T	G	5: 104,209,913	S40A	possibly damaging	Het
Dpysl4	A	G	7: 139,096,770	I379V	probably benign	Het
Eral1	C	T	11: 78,074,489	G367S	probably benign	Het
Fah	C	T	7: 84,602,181	R31Q	probably damaging	Het
Fbn1	T	A	2: 125,350,373		probably null	Het
Fbxo40	T	C	16: 36,969,869	D293G	probably damaging	Het
Gemin6	A	C	17: 80,227,985	T125P	probably damaging	Het
Gpbar1	G	A	1: 74,279,444	G282D	possibly damaging	Het
Gria2	G	A	3: 80,802,357	L10F	probably benign	Het
Gucy1b1	A	G	3: 82,034,853	I533T	probably damaging	Het
H2-M9	A	T	17: 36,641,786	Y123N	probably damaging	Het
Hipk2	C	A	6: 38,715,974	D868Y	probably damaging	Het
Jarid2	T	C	13: 44,874,441	L123P	probably damaging	Het
Kcnb2	C	A	1: 15,709,766	N287K	possibly damaging	Het
Kdm8	G	A	7: 125,452,339	G35S	probably benign	Het
Kirrel	G	T	3: 87,095,786	A100D	possibly damaging	Het
Ltbp2	T	G	12: 84,808,446		probably null	Het
Mfsd12	C	A	10: 81,357,681	H28Q	probably damaging	Het
Neb	C	T	2: 52,298,732	V837M	probably damaging	Het
Nkain2	A	G	10: 32,402,351	I26T	possibly damaging	Het
Nuggc	A	G	14: 65,611,174	R175G	probably benign	Het
Olfr1122	T	G	2: 87,387,831	I42R	probably damaging	Het
Olfr1161	T	A	2: 88,025,672	S317T	probably benign	Het
Olfr205	A	G	16: 59,329,291	S73P	probably damaging	Het
Olfr965	T	C	9: 39,719,413	F62S	probably damaging	Het
Pcnt	G	A	10: 76,392,799	Q1511*	probably null	Het
Piezo2	G	T	18: 63,078,781	T1311K	probably damaging	Het
Pik3c2a	T	C	7: 116,354,006	Y1218C	probably damaging	Het
Pik3r4	T	A	9: 105,669,165	S905T	probably benign	Het
Pikfyve	T	A	1: 65,246,708	D1035E	probably damaging	Het
Pkn3	G	C	2: 30,089,977	G744A	probably damaging	Het
Pms1	A	G	1: 53,195,015	S781P	probably benign	Het
Pogz	C	T	3: 94,877,944	R793W	probably damaging	Het
Prrc2a	A	T	17: 35,157,429	V795D	probably damaging	Het
Rock1	G	A	18: 10,101,026	R630*	probably null	Het
Scd4	T	A	19: 44,334,178	I70N	possibly damaging	Het
Serpine2	A	G	1: 79,821,442	S32P	probably damaging	Het
Slc9c1	A	C	16: 45,554,255	T328P	probably damaging	Het
Spata31d1b	G	C	13: 59,716,380	L447F	probably benign	Het
Speer2	A	G	16: 69,858,077	S167P	probably benign	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Tbcel	C	A	9: 42,451,661	G29W	probably damaging	Het
Tmcc3	T	C	10: 94,578,606	S57P	possibly damaging	Het
Tmem240	T	A	4: 155,739,847	D125E	possibly damaging	Het
Ttll7	G	A	3: 146,961,755	C792Y	possibly damaging	Het
Vmn1r177	T	A	7: 23,865,687	I255F	probably damaging	Het
Zp2	T	A	7: 120,135,165	I554F	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
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'- GGTATGCCTGCTTTTAATGTGAGAC -3'
(R):5'- ATAGACTGAGCTTCCCACAGG -3'

Sequencing Primer
(F):5'- GTGAGACTTTGACATGTCCTGTAAC -3'
(R):5'- GAGCTTCCCACAGGCTTTTC -3'

Posted On

2014-08-25