Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01895:Unc5b'

179357

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01895

Quality Score

Status

Chromosome

Chromosomal Location

60762593-60831581 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60767085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 845 (F845S)

Ref Sequence

ENSEMBL: ENSMUSP00000151251 (fasta)

Gene Model

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

AlphaFold

Q8K1S3

Predicted Effect

probably damaging
Transcript: ENSMUST00000077925
AA Change: F856S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: F856S

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: F845S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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
2410089E03Rik	T	A	15: 8,229,107	V2279E	possibly damaging	Het
Abcc6	A	T	7: 46,029,058	I56N	possibly damaging	Het
Akr1c13	A	T	13: 4,205,373	E321V	possibly damaging	Het
Atp8b3	A	T	10: 80,521,828	V1119D	possibly damaging	Het
Cacna1e	G	T	1: 154,443,900	F1351L	probably damaging	Het
Cadps2	A	G	6: 23,427,275	W585R	probably damaging	Het
Ccdc113	C	T	8: 95,536,458		probably benign	Het
Ccer1	A	T	10: 97,694,050	I192F	unknown	Het
Chd8	T	C	14: 52,199,094	N90S	probably benign	Het
Clca3a1	A	T	3: 144,747,572	C463*	probably null	Het
Cyp2c65	T	A	19: 39,072,232	C179S	possibly damaging	Het
Dennd4b	A	G	3: 90,275,567	Q35R	probably benign	Het
Enpep	T	C	3: 129,270,334	E928G	possibly damaging	Het
Fem1c	T	C	18: 46,505,562	T458A	probably benign	Het
Fezf2	A	T	14: 12,342,498	*456R	probably null	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14085	A	C	2: 122,525,091	Y588S	possibly damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Iqcm	T	G	8: 75,888,560	L423R	probably damaging	Het
Kcnc4	C	A	3: 107,448,218	V305L	probably benign	Het
Kif1a	G	A	1: 93,025,733	T1337I	possibly damaging	Het
Lpxn	A	G	19: 12,833,086	D298G	probably damaging	Het
Lypd8	A	G	11: 58,390,220	T203A	possibly damaging	Het
Mrps28	C	T	3: 8,900,059	V107M	probably damaging	Het
Myo15b	A	G	11: 115,883,498	E586G	possibly damaging	Het
Pdzk1	C	T	3: 96,869,101	A459V	possibly damaging	Het
Rbpj	A	G	5: 53,651,386	D285G	probably damaging	Het
Rimbp3	T	C	16: 17,211,436	L908P	probably damaging	Het
Samd4b	T	C	7: 28,401,909		probably null	Het
Stau2	C	T	1: 16,345,937	G401S	probably damaging	Het
Trpa1	A	T	1: 14,887,643	I697K	possibly damaging	Het
Ttc17	A	C	2: 94,375,146	V285G	possibly damaging	Het
Vmn1r19	A	T	6: 57,405,260	Q266L	probably benign	Het
Vmn2r106	T	C	17: 20,278,965	N228S	probably benign	Het
Vps13d	A	G	4: 145,156,266	F919S	possibly damaging	Het
Zbtb38	C	T	9: 96,688,408	V208I	probably benign	Het
Zfp990	A	T	4: 145,536,857	T142S	probably damaging	Het
Zfp990	C	A	4: 145,536,858	T142N	probably 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
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
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
R9100:Unc5b	UTSW	10	60768373	missense	probably damaging	1.00
R9188:Unc5b	UTSW	10	60773771	missense	probably damaging	1.00
R9287:Unc5b	UTSW	10	60773753	missense	possibly damaging	0.88
R9441:Unc5b	UTSW	10	60772249	missense	probably damaging	1.00
R9664:Unc5b	UTSW	10	60777543	missense	probably damaging	1.00
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