Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00578:Unc5b'

14718

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Unc5b

Ensembl Gene

ENSMUSG00000020099

Gene Name

unc-5 netrin receptor B

Synonyms

Unc5h2, 6330415E02Rik, D10Bwg0792e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00578

Quality Score

Status

Chromosome

Chromosomal Location

60598373-60667360 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60602834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 866 (I866T)

Ref Sequence

ENSEMBL: ENSMUSP00000077080 (fasta)

Gene Model

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

AlphaFold

Q8K1S3

PDB Structure

Crystal structure of the UNC5H2 death domain [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000077925
AA Change: I866T

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

SMART Domains

Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: I866T

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: I855T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,821,787 (GRCm39)	T729A	possibly damaging	Het
Ank3	C	A	10: 69,838,224 (GRCm39)	S864Y	possibly damaging	Het
Ankrd44	G	A	1: 54,701,806 (GRCm39)		probably benign	Het
Atp11c	C	T	X: 59,286,177 (GRCm39)	G996R	probably damaging	Het
Col11a1	A	G	3: 113,987,755 (GRCm39)	T250A	possibly damaging	Het
Cox8a	T	A	19: 7,192,770 (GRCm39)	Y65F	probably damaging	Het
Ctnnd1	G	T	2: 84,439,969 (GRCm39)	N451K	probably damaging	Het
D630045J12Rik	T	C	6: 38,171,865 (GRCm39)	T768A	probably benign	Het
Esyt1	A	G	10: 128,347,612 (GRCm39)	S999P	probably damaging	Het
Fyco1	A	G	9: 123,667,962 (GRCm39)	I88T	probably damaging	Het
Kdm2b	A	G	5: 123,099,630 (GRCm39)	V103A	probably damaging	Het
Klk1b26	T	C	7: 43,666,309 (GRCm39)	S251P	probably benign	Het
Krtap16-1	A	G	11: 99,876,121 (GRCm39)	S428P	probably benign	Het
Lrp1b	C	T	2: 40,569,185 (GRCm39)	V210I	unknown	Het
Mapk8ip3	A	T	17: 25,119,793 (GRCm39)	D1018E	probably damaging	Het
Nxph2	T	A	2: 23,290,334 (GRCm39)	C229S	probably damaging	Het
Prickle1	A	G	15: 93,398,662 (GRCm39)	L722P	probably benign	Het
Rbm12	A	T	2: 155,937,961 (GRCm39)		probably benign	Het
Rimoc1	C	A	15: 4,018,118 (GRCm39)	G186C	probably damaging	Het
Sfpq	T	C	4: 126,919,700 (GRCm39)	Y482H	probably damaging	Het
Sycp2	T	C	2: 177,992,615 (GRCm39)		probably benign	Het

Other mutations in Unc5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Unc5b	APN	10	60,618,995 (GRCm39)	missense	possibly damaging	0.73
IGL01895:Unc5b	APN	10	60,602,864 (GRCm39)	missense	probably damaging	1.00
IGL01955:Unc5b	APN	10	60,614,034 (GRCm39)	missense	probably benign	0.30
IGL01980:Unc5b	APN	10	60,615,966 (GRCm39)	missense	probably damaging	1.00
IGL02277:Unc5b	APN	10	60,610,521 (GRCm39)	missense	probably benign
LCD18:Unc5b	UTSW	10	60,621,950 (GRCm39)	intron	probably benign
R0021:Unc5b	UTSW	10	60,614,698 (GRCm39)	missense	probably benign	0.17
R0021:Unc5b	UTSW	10	60,614,698 (GRCm39)	missense	probably benign	0.17
R0026:Unc5b	UTSW	10	60,610,371 (GRCm39)	missense	possibly damaging	0.86
R0147:Unc5b	UTSW	10	60,608,076 (GRCm39)	missense	probably damaging	0.96
R0305:Unc5b	UTSW	10	60,615,437 (GRCm39)	splice site	probably benign
R0306:Unc5b	UTSW	10	60,615,437 (GRCm39)	splice site	probably benign
R0373:Unc5b	UTSW	10	60,614,719 (GRCm39)	missense	possibly damaging	0.78
R0662:Unc5b	UTSW	10	60,608,362 (GRCm39)	missense	possibly damaging	0.68
R1208:Unc5b	UTSW	10	60,602,771 (GRCm39)	missense	probably damaging	1.00
R1208:Unc5b	UTSW	10	60,602,771 (GRCm39)	missense	probably damaging	1.00
R1512:Unc5b	UTSW	10	60,667,254 (GRCm39)	unclassified	probably benign
R1532:Unc5b	UTSW	10	60,605,011 (GRCm39)	missense	probably damaging	0.99
R1916:Unc5b	UTSW	10	60,614,027 (GRCm39)	missense	probably damaging	1.00
R1931:Unc5b	UTSW	10	60,608,348 (GRCm39)	missense	probably benign	0.30
R1954:Unc5b	UTSW	10	60,605,044 (GRCm39)	splice site	probably benign
R2350:Unc5b	UTSW	10	60,613,979 (GRCm39)	missense	probably benign	0.04
R3419:Unc5b	UTSW	10	60,614,593 (GRCm39)	missense	probably damaging	1.00
R4116:Unc5b	UTSW	10	60,610,479 (GRCm39)	missense	probably damaging	0.99
R4258:Unc5b	UTSW	10	60,601,150 (GRCm39)	missense	probably damaging	0.99
R4329:Unc5b	UTSW	10	60,618,969 (GRCm39)	missense	probably damaging	1.00
R4605:Unc5b	UTSW	10	60,610,182 (GRCm39)	missense	probably benign	0.01
R4828:Unc5b	UTSW	10	60,608,127 (GRCm39)	missense	possibly damaging	0.90
R5134:Unc5b	UTSW	10	60,610,879 (GRCm39)	missense	probably benign	0.09
R5190:Unc5b	UTSW	10	60,608,072 (GRCm39)	missense	probably benign	0.04
R5240:Unc5b	UTSW	10	60,610,419 (GRCm39)	missense	probably damaging	0.99
R5342:Unc5b	UTSW	10	60,614,046 (GRCm39)	nonsense	probably null
R5522:Unc5b	UTSW	10	60,613,974 (GRCm39)	missense	possibly damaging	0.91
R5694:Unc5b	UTSW	10	60,609,526 (GRCm39)	missense	probably benign	0.02
R5822:Unc5b	UTSW	10	60,608,306 (GRCm39)	missense	possibly damaging	0.71
R5909:Unc5b	UTSW	10	60,608,138 (GRCm39)	missense	probably damaging	1.00
R6007:Unc5b	UTSW	10	60,601,139 (GRCm39)	missense	probably damaging	1.00
R6115:Unc5b	UTSW	10	60,613,325 (GRCm39)	missense	probably benign	0.33
R6182:Unc5b	UTSW	10	60,601,015 (GRCm39)	missense	probably damaging	1.00
R6187:Unc5b	UTSW	10	60,608,003 (GRCm39)	missense	probably damaging	1.00
R6294:Unc5b	UTSW	10	60,614,110 (GRCm39)	missense	possibly damaging	0.82
R6319:Unc5b	UTSW	10	60,614,580 (GRCm39)	missense	probably damaging	1.00
R6366:Unc5b	UTSW	10	60,614,091 (GRCm39)	missense	probably benign
R6532:Unc5b	UTSW	10	60,614,607 (GRCm39)	missense	possibly damaging	0.95
R6827:Unc5b	UTSW	10	60,616,011 (GRCm39)	missense	probably benign
R6912:Unc5b	UTSW	10	60,666,871 (GRCm39)	missense	probably benign
R7032:Unc5b	UTSW	10	60,614,587 (GRCm39)	missense	probably damaging	0.99
R7082:Unc5b	UTSW	10	60,610,867 (GRCm39)	missense	probably damaging	0.98
R7089:Unc5b	UTSW	10	60,613,265 (GRCm39)	missense	probably damaging	1.00
R7270:Unc5b	UTSW	10	60,608,002 (GRCm39)	nonsense	probably null
R7587:Unc5b	UTSW	10	60,618,899 (GRCm39)	missense	probably damaging	1.00
R7716:Unc5b	UTSW	10	60,613,217 (GRCm39)	missense	probably damaging	1.00
R7750:Unc5b	UTSW	10	60,610,823 (GRCm39)	missense	probably benign	0.00
R7810:Unc5b	UTSW	10	60,601,020 (GRCm39)	missense	probably benign
R7895:Unc5b	UTSW	10	60,615,509 (GRCm39)	missense	possibly damaging	0.65
R7942:Unc5b	UTSW	10	60,613,322 (GRCm39)	missense	probably damaging	1.00
R8264:Unc5b	UTSW	10	60,604,113 (GRCm39)	missense	probably benign	0.22
R9100:Unc5b	UTSW	10	60,604,152 (GRCm39)	missense	probably damaging	1.00
R9188:Unc5b	UTSW	10	60,609,550 (GRCm39)	missense	probably damaging	1.00
R9287:Unc5b	UTSW	10	60,609,532 (GRCm39)	missense	possibly damaging	0.88
R9441:Unc5b	UTSW	10	60,608,028 (GRCm39)	missense	probably damaging	1.00
R9664:Unc5b	UTSW	10	60,613,322 (GRCm39)	missense	probably damaging	1.00
RF019:Unc5b	UTSW	10	60,618,962 (GRCm39)	missense	probably damaging	1.00
X0027:Unc5b	UTSW	10	60,613,238 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06