Mutagenetix > Incidental Mutations

Incidental Mutation 'R0021:Unc5b'

8367

Institutional Source

Beutler Lab

Gene Symbol

Unc5b

Ensembl Gene

ENSMUSG00000020099

Gene Name

unc-5 netrin receptor B

Synonyms

Unc5h2, D10Bwg0792e, 6330415E02Rik

MMRRC Submission

038316-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0021 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

60762593-60831581 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60778919 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 200 (T200A)

Ref Sequence

ENSEMBL: ENSMUSP00000151251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077925] [ENSMUST00000218637]

Predicted Effect

probably benign
Transcript: ENSMUST00000077925
AA Change: T200A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: T200A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IG_like	54	149	1.71e2	SMART
IGc2	165	232	2.58e-6	SMART
TSP1	249	300	8.21e-15	SMART
TSP1	305	354	2.61e-8	SMART
transmembrane domain	374	396	N/A	INTRINSIC
low complexity region	491	504	N/A	INTRINSIC
ZU5	541	644	1.91e-56	SMART
DEATH	852	943	5.55e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218316

Predicted Effect

probably benign
Transcript: ENSMUST00000218637
AA Change: T200A

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0716

Coding Region Coverage

1x: 84.2%
3x: 78.9%
10x: 65.7%
20x: 50.3%

Validation Efficiency

96% (92/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the netrin family of receptors. This particular protein mediates the repulsive effect of netrin-1 and is a vascular netrin receptor. This encoded protein is also in a group of proteins called dependence receptors (DpRs) which are involved in pro- and anti-apoptotic processes. Many DpRs are involved in embryogenesis and in cancer progression. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a severely hypomorphic allele exhibit background sensitive lethality during organogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310016G11Rik	A	G	7: 44,677,196		noncoding transcript	Het
5830411N06Rik	G	A	7: 140,296,397	R594H	probably benign	Het
Abcc5	T	A	16: 20,378,661	K647*	probably null	Het
Aplp1	A	G	7: 30,435,816		probably benign	Het
AU019823	A	C	9: 50,610,425	D65E	probably damaging	Het
Baiap3	T	C	17: 25,243,669	E1105G	probably damaging	Het
Brinp3	T	G	1: 146,901,451	S545R	probably benign	Het
Btnl1	A	G	17: 34,379,494	E28G	probably benign	Het
Ccr6	G	A	17: 8,256,766	V268M	possibly damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
D630045J12Rik	G	A	6: 38,183,967	Q1081*	probably null	Het
Dhx15	T	C	5: 52,157,488	T626A	probably damaging	Het
Dhx36	T	C	3: 62,477,595	I699V	possibly damaging	Het
Dnah9	A	G	11: 65,969,979	I2855T	probably benign	Het
Fsip2	T	A	2: 82,999,857		probably benign	Het
Galnt11	A	T	5: 25,248,857	D27V	probably damaging	Het
Gm4981	C	A	10: 58,235,563	E276D	probably benign	Het
Gm5134	T	A	10: 75,993,884	C335S	probably damaging	Het
Hdhd2	A	T	18: 76,970,615	K227N	probably damaging	Het
Itgb4	A	T	11: 115,979,627	D94V	possibly damaging	Het
Krtcap3	A	G	5: 31,252,959	H227R	probably benign	Het
Macf1	T	C	4: 123,475,577	H232R	probably damaging	Het
Map2k4	A	G	11: 65,712,284	I174T	probably damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Mcm9	G	A	10: 53,537,901	T1099I	possibly damaging	Het
Nqo2	T	C	13: 33,981,507	I129T	probably benign	Het
Pdgfrb	T	A	18: 61,064,926		probably benign	Het
Phf7	C	T	14: 31,238,486		probably benign	Het
Plac8	T	A	5: 100,556,568	T88S	probably benign	Het
Prss52	T	G	14: 64,104,408	V16G	probably benign	Het
Psmb9	G	A	17: 34,184,303	A80V	probably benign	Het
Ptprk	T	A	10: 28,592,895	V1425E	probably damaging	Het
Scn2a	T	C	2: 65,670,515	V7A	possibly damaging	Het
Serpini1	T	C	3: 75,619,313	Y291H	probably damaging	Het
Setd6	A	G	8: 95,716,665	K19E	probably damaging	Het
Siah2	T	C	3: 58,676,292	H191R	probably benign	Het
Slc27a2	T	C	2: 126,567,886		probably benign	Het
Tbc1d10a	T	C	11: 4,213,680	C277R	probably damaging	Het
Trim55	A	C	3: 19,644,702	M32L	probably benign	Het
Wrap53	A	T	11: 69,563,886	M219K	probably damaging	Het
Zfp790	G	A	7: 29,825,688		probably benign	Het

Other mutations in Unc5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Unc5b	APN	10	60783216	missense	possibly damaging	0.73
IGL00578:Unc5b	APN	10	60767055	missense	probably damaging	1.00
IGL01895:Unc5b	APN	10	60767085	missense	probably damaging	1.00
IGL01955:Unc5b	APN	10	60778255	missense	probably benign	0.30
IGL01980:Unc5b	APN	10	60780187	missense	probably damaging	1.00
IGL02277:Unc5b	APN	10	60774742	missense	probably benign
LCD18:Unc5b	UTSW	10	60786171	intron	probably benign
R0021:Unc5b	UTSW	10	60778919	missense	probably benign	0.17
R0026:Unc5b	UTSW	10	60774592	missense	possibly damaging	0.86
R0147:Unc5b	UTSW	10	60772297	missense	probably damaging	0.96
R0305:Unc5b	UTSW	10	60779658	splice site	probably benign
R0306:Unc5b	UTSW	10	60779658	splice site	probably benign
R0373:Unc5b	UTSW	10	60778940	missense	possibly damaging	0.78
R0662:Unc5b	UTSW	10	60772583	missense	possibly damaging	0.68
R1208:Unc5b	UTSW	10	60766992	missense	probably damaging	1.00
R1208:Unc5b	UTSW	10	60766992	missense	probably damaging	1.00
R1512:Unc5b	UTSW	10	60831475	unclassified	probably benign
R1532:Unc5b	UTSW	10	60769232	missense	probably damaging	0.99
R1916:Unc5b	UTSW	10	60778248	missense	probably damaging	1.00
R1931:Unc5b	UTSW	10	60772569	missense	probably benign	0.30
R1954:Unc5b	UTSW	10	60769265	splice site	probably benign
R2350:Unc5b	UTSW	10	60778200	missense	probably benign	0.04
R3419:Unc5b	UTSW	10	60778814	missense	probably damaging	1.00
R4116:Unc5b	UTSW	10	60774700	missense	probably damaging	0.99
R4258:Unc5b	UTSW	10	60765371	missense	probably damaging	0.99
R4329:Unc5b	UTSW	10	60783190	missense	probably damaging	1.00
R4605:Unc5b	UTSW	10	60774403	missense	probably benign	0.01
R4828:Unc5b	UTSW	10	60772348	missense	possibly damaging	0.90
R5134:Unc5b	UTSW	10	60775100	missense	probably benign	0.09
R5190:Unc5b	UTSW	10	60772293	missense	probably benign	0.04
R5240:Unc5b	UTSW	10	60774640	missense	probably damaging	0.99
R5342:Unc5b	UTSW	10	60778267	nonsense	probably null
R5522:Unc5b	UTSW	10	60778195	missense	possibly damaging	0.91
R5694:Unc5b	UTSW	10	60773747	missense	probably benign	0.02
R5822:Unc5b	UTSW	10	60772527	missense	possibly damaging	0.71
R5909:Unc5b	UTSW	10	60772359	missense	probably damaging	1.00
R6007:Unc5b	UTSW	10	60765360	missense	probably damaging	1.00
R6115:Unc5b	UTSW	10	60777546	missense	probably benign	0.33
R6182:Unc5b	UTSW	10	60765236	missense	probably damaging	1.00
R6187:Unc5b	UTSW	10	60772224	missense	probably damaging	1.00
R6294:Unc5b	UTSW	10	60778331	missense	possibly damaging	0.82
R6319:Unc5b	UTSW	10	60778801	missense	probably damaging	1.00
R6366:Unc5b	UTSW	10	60778312	missense	probably benign
R6532:Unc5b	UTSW	10	60778828	missense	possibly damaging	0.95
R6827:Unc5b	UTSW	10	60780232	missense	probably benign
R6912:Unc5b	UTSW	10	60831092	missense	probably benign
R7032:Unc5b	UTSW	10	60778808	missense	probably damaging	0.99
R7082:Unc5b	UTSW	10	60775088	missense	probably damaging	0.98
R7089:Unc5b	UTSW	10	60777486	missense	probably damaging	1.00
R7270:Unc5b	UTSW	10	60772223	nonsense	probably null
R7587:Unc5b	UTSW	10	60783120	missense	probably damaging	1.00
R7716:Unc5b	UTSW	10	60777438	missense	probably damaging	1.00
R7750:Unc5b	UTSW	10	60775044	missense	probably benign	0.00
R7810:Unc5b	UTSW	10	60765241	missense	probably benign
R7895:Unc5b	UTSW	10	60779730	missense	possibly damaging	0.65
R7942:Unc5b	UTSW	10	60777543	missense	probably damaging	1.00
R8264:Unc5b	UTSW	10	60768334	missense	probably benign	0.22
RF019:Unc5b	UTSW	10	60783183	missense	probably damaging	1.00
X0027:Unc5b	UTSW	10	60777459	missense	probably damaging	1.00

Posted On

2012-11-27