Mutagenetix > Incidental Mutation

Incidental Mutation 'R7570:Dcbld2'

585759

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

045631-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7570 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58408443-58469727 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58424569 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 69 (C69S)

Ref Sequence

ENSEMBL: ENSMUSP00000039915 (fasta)

Gene Model

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

AlphaFold

Q91ZV3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046663
AA Change: C69S

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039915
Gene: ENSMUSG00000035107
AA Change: C69S

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

0.8925

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (104/106)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,934,610	T613I	probably benign	Het
9130019O22Rik	T	A	7: 127,385,283	S216C	probably benign	Het
Ajuba	T	C	14: 54,576,402	E288G	probably damaging	Het
Ankrd12	C	T	17: 65,985,360	R1026K	probably benign	Het
Apol7b	T	C	15: 77,423,474	T274A	probably benign	Het
Arid4a	A	T	12: 71,063,142	R86*	probably null	Het
Asnsd1	C	T	1: 53,348,258	G70D	probably damaging	Het
Atg4c	T	A	4: 99,228,560	V313D	possibly damaging	Het
Atp13a5	A	C	16: 29,266,963	C885G	probably damaging	Het
Bpifb9a	A	T	2: 154,262,263	I209F	possibly damaging	Het
Bsn	T	C	9: 108,113,543	D1670G	probably damaging	Het
Cct8	T	A	16: 87,491,322	I121F	probably benign	Het
Cd209a	T	G	8: 3,744,151	D217A	probably damaging	Het
Cdk19	C	T	10: 40,477,958	S456L	possibly damaging	Het
Chd9	C	T	8: 90,994,580	H999Y	unknown	Het
Col5a1	G	A	2: 27,951,383	V339M	unknown	Het
Cr2	G	A	1: 195,169,340	R115*	probably null	Het
Cyb561	A	T	11: 105,937,644	F62I	probably damaging	Het
Cyp2c38	A	T	19: 39,404,743	N293K	possibly damaging	Het
Cyp2c69	A	T	19: 39,859,898	D293E	probably damaging	Het
Dcdc2a	T	C	13: 25,119,373	S296P	probably benign	Het
Dmxl1	T	A	18: 49,893,957	I2044K	possibly damaging	Het
Dnah5	A	G	15: 28,346,952	D2527G	probably damaging	Het
Dnah6	T	C	6: 73,149,430	T1305A	probably benign	Het
Dnajc9	A	G	14: 20,388,644	V47A	probably benign	Het
Dnmt3b	A	G	2: 153,676,699	Y594C	probably damaging	Het
Dph7	A	G	2: 24,965,630	D147G	probably damaging	Het
Drap1	T	C	19: 5,423,352	H164R	possibly damaging	Het
Dsg3	T	A	18: 20,527,780	V392E	possibly damaging	Het
Dxo	A	G	17: 34,837,640	D81G	probably benign	Het
E230025N22Rik	G	T	18: 36,695,592	T11K	probably benign	Het
Esyt1	A	G	10: 128,518,932	V533A	possibly damaging	Het
Etv3	T	A	3: 87,536,031	C307*	probably null	Het
Fam114a1	T	A	5: 65,030,059		probably null	Het
Fam208b	A	G	13: 3,573,621	Y2110H	probably damaging	Het
Fam3c	T	A	6: 22,326,405		probably benign	Het
Fbn1	G	T	2: 125,397,852	T305K	probably benign	Het
Ggt1	A	T	10: 75,585,594	I484F	probably damaging	Het
Gm10639	A	T	9: 78,304,469	D171V	possibly damaging	Het
Gpatch1	T	C	7: 35,293,812	D536G	probably damaging	Het
Gpx4	T	C	10: 80,055,041	I189T	probably damaging	Het
Gsr	T	A	8: 33,669,165	C85S	probably damaging	Het
Havcr1	T	A	11: 46,770,542		probably null	Het
Heatr4	T	C	12: 83,979,644	T280A	probably benign	Het
Hmcn2	A	T	2: 31,423,911	E3532D	probably benign	Het
Hnrnpc	T	C	14: 52,075,099	N308S	possibly damaging	Het
Ighv8-9	A	G	12: 115,468,738	V13A	probably benign	Het
Itgb2l	A	T	16: 96,426,239	F535I	probably benign	Het
Kdm5a	T	G	6: 120,427,842	D1348E	probably damaging	Het
Kndc1	CT	C	7: 139,923,775		probably null	Het
Ky	A	G	9: 102,542,329	I512V	probably benign	Het
Lamc1	A	T	1: 153,243,275	F866Y	possibly damaging	Het
Lbx1	C	A	19: 45,235,248		probably benign	Het
Magel2	A	G	7: 62,378,910	T521A	possibly damaging	Het
Mgam	A	T	6: 40,746,433	I491L	probably benign	Het
Mitd1	T	C	1: 37,890,192	E40G	probably damaging	Het
Mpzl3	A	G	9: 45,070,687	T218A	probably benign	Het
Mrpl42	A	G	10: 95,480,965	S77P	probably benign	Het
Mup5	C	T	4: 61,834,674	W37*	probably null	Het
Myh14	T	C	7: 44,632,426	I803V	probably benign	Het
Ncor2	T	A	5: 125,030,089	T744S		Het
Ndufv3	A	G	17: 31,527,622	D162G	probably damaging	Het
Nostrin	A	G	2: 69,175,806	E278G	probably damaging	Het
Nrxn1	T	G	17: 90,162,379	E1288A	probably benign	Het
Olfr1205	A	G	2: 88,831,128	N4D	possibly damaging	Het
Olfr623	C	A	7: 103,660,881	R123L	probably damaging	Het
Olfr648	T	A	7: 104,179,748	Y220F	probably damaging	Het
Olfr972	A	T	9: 39,873,455	Y60F	possibly damaging	Het
Patj	T	A	4: 98,424,500		probably null	Het
Pcm1	T	G	8: 41,267,344	I314R	possibly damaging	Het
Pcsk6	A	G	7: 66,033,898	T754A	probably benign	Het
Pde2a	A	T	7: 101,502,834	N326I	probably benign	Het
Plekhg4	T	C	8: 105,378,684	S594P	possibly damaging	Het
Plekhm3	T	C	1: 64,937,906	D135G	probably damaging	Het
Plin4	A	T	17: 56,106,776	M283K	probably benign	Het
Ppfia3	T	C	7: 45,340,748		probably null	Het
Prdm9	T	C	17: 15,555,652	N179S	probably benign	Het
Prrt3	T	C	6: 113,494,488	S908G	probably damaging	Het
Psg22	C	A	7: 18,722,735	S181Y	possibly damaging	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rp1l1	T	A	14: 64,031,574	C1536*	probably null	Het
Rpp25l	T	C	4: 41,712,529	H82R	probably damaging	Het
Rps3a1	T	A	3: 86,139,089	M172L	probably benign	Het
Rtbdn	T	C	8: 84,952,927	L110P	probably damaging	Het
Ryr1	T	A	7: 29,078,585	Q2169L	probably damaging	Het
Scn4a	A	T	11: 106,320,473	C1573S	possibly damaging	Het
Sec16b	A	T	1: 157,531,395		probably null	Het
Serpina1a	A	T	12: 103,853,837	D383E	possibly damaging	Het
Sh3gl3	T	C	7: 82,285,077	M262T	probably benign	Het
Sos2	G	A	12: 69,590,880	T1052M	probably damaging	Het
Spag16	G	A	1: 69,996,841	V343I	probably benign	Het
Spocd1	T	G	4: 129,930,164	D251E		Het
Stc2	G	T	11: 31,367,798	N74K	probably damaging	Het
Thbs3	C	T	3: 89,219,052	Q227*	probably null	Het
Tmem92	A	C	11: 94,778,990	I105R	probably benign	Het
Tmod1	T	A	4: 46,083,632	N20K	probably benign	Het
Tns1	T	C	1: 73,953,479	D53G	probably damaging	Het
Tspan33	T	A	6: 29,717,338	L246Q	probably damaging	Het
Ttc16	A	G	2: 32,768,968	L392P	probably damaging	Het
Uggt1	T	A	1: 36,185,838	T572S	probably benign	Het
Usp17la	A	T	7: 104,860,397	T70S	probably damaging	Het
Usp31	C	T	7: 121,674,963	R370H	probably damaging	Het
Wdr83	C	T	8: 85,079,834	V112M	probably damaging	Het
Zbtb25	T	A	12: 76,369,592		probably benign	Het
Zfp110	T	A	7: 12,849,340	N638K	possibly damaging	Het
Zfp820	T	C	17: 21,819,013	T445A	probably benign	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
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
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'- AAGAACCGTGTTGTCTGCTG -3'
(R):5'- CATGTGCATCTTGTACGAGGG -3'

Sequencing Primer
(F):5'- CTGCTGTGTTCTTTGAAAAGGAAG -3'
(R):5'- GGTAACCATGTGCTAATAAGACTAGC -3'

Posted On

2019-10-17