Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01980:Unc5b'

182712

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc5b

Ensembl Gene

ENSMUSG00000020099

Gene Name

unc-5 netrin receptor B

Synonyms

Unc5h2, D10Bwg0792e, 6330415E02Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01980

Quality Score

Status

Chromosome

Chromosomal Location

60762593-60831581 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60780187 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 119 (E119G)

Ref Sequence

ENSEMBL: ENSMUSP00000151251 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000077925
AA Change: E119G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: E119G

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 damaging
Transcript: ENSMUST00000218637
AA Change: E119G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd60	C	T	2: 173,571,203	C164Y	probably benign	Het
Atp13a2	C	T	4: 141,006,152	A979V	probably benign	Het
Col5a2	C	T	1: 45,382,233		probably benign	Het
Col6a6	T	C	9: 105,780,985	N676S	probably damaging	Het
Cpa1	T	C	6: 30,641,582	F192L	possibly damaging	Het
Entpd6	T	A	2: 150,762,366		probably null	Het
Fam185a	A	G	5: 21,459,173	K302E	probably damaging	Het
Il12rb2	T	C	6: 67,360,535	K121E	probably benign	Het
Impg2	G	A	16: 56,221,527	C178Y	probably damaging	Het
Kdm3b	G	T	18: 34,834,236	C1698F	probably damaging	Het
Llgl2	A	G	11: 115,850,025	D451G	probably damaging	Het
Mgat4b	T	A	11: 50,230,713	L52Q	probably damaging	Het
Mmp9	C	A	2: 164,950,916	S363R	probably benign	Het
Mtfmt	A	G	9: 65,437,074	Y94C	probably benign	Het
Myo7b	G	A	18: 31,961,900	L1881F	possibly damaging	Het
Olfr642	A	T	7: 104,050,093	M87K	probably benign	Het
Olfr782	G	T	10: 129,351,517		probably benign	Het
Pex5	T	C	6: 124,398,380	N524S	probably damaging	Het
Plppr1	A	T	4: 49,319,992	Y206F	possibly damaging	Het
Polr3e	A	G	7: 120,940,296		probably benign	Het
Rhbdd1	A	G	1: 82,340,834		probably benign	Het
Rims4	A	T	2: 163,865,782		probably benign	Het
Smarcal1	A	T	1: 72,616,520	K653*	probably null	Het
Stt3b	C	T	9: 115,276,699		probably null	Het
Syt8	C	A	7: 142,440,140	L343M	probably damaging	Het
Tbc1d23	G	A	16: 57,189,252		probably benign	Het
Tfec	T	C	6: 16,845,466	I65V	probably damaging	Het
Tmem236	A	T	2: 14,218,905	Q168H	probably benign	Het
Tmem25	G	A	9: 44,798,271	R78*	probably null	Het
Tnip2	A	G	5: 34,496,868	V288A	probably benign	Het
Ttc1	G	A	11: 43,730,464		probably benign	Het
Tubb4b-ps1	A	C	5: 7,179,843		probably benign	Het
Tut1	T	C	19: 8,954,000	C21R	probably damaging	Het
Ubr4	C	A	4: 139,429,602	Q2313K	probably damaging	Het
Vmn1r23	T	A	6: 57,926,490	Q101L	probably damaging	Het
Vmn2r77	A	G	7: 86,801,470	D188G	probably benign	Het
Vmn2r79	A	G	7: 87,037,082	E557G	possibly damaging	Het
Zfp738	A	G	13: 67,669,977	F632L	possibly damaging	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
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
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

2014-05-07