Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02277:Unc5b'

287378

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 #

IGL02277

Quality Score

Status

Chromosome

Chromosomal Location

60598373-60667360 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60610521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 421 (N421S)

Ref Sequence

ENSEMBL: ENSMUSP00000151251 (fasta)

Gene Model

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

AlphaFold

Q8K1S3

Predicted Effect

probably benign
Transcript: ENSMUST00000077925
AA Change: N432S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: N432S

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: N421S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	T	9: 57,165,708 (GRCm39)	G222D	probably benign	Het
Abcc6	T	C	7: 45,650,485 (GRCm39)	D625G	probably benign	Het
Akr1c12	C	T	13: 4,322,268 (GRCm39)	R258Q	probably damaging	Het
Akr1c20	T	A	13: 4,564,404 (GRCm39)	E36D	probably benign	Het
Csn2	A	G	5: 87,845,881 (GRCm39)		probably benign	Het
Dennd5a	T	C	7: 109,497,176 (GRCm39)	I1084V	possibly damaging	Het
Dlg1	A	G	16: 31,609,082 (GRCm39)	I259V	probably damaging	Het
Dpysl5	A	G	5: 30,946,125 (GRCm39)	I344V	probably damaging	Het
Fcrl6	A	G	1: 172,426,686 (GRCm39)	C87R	probably damaging	Het
Fras1	A	G	5: 96,735,977 (GRCm39)	E524G	probably benign	Het
Gabpb2	A	G	3: 95,096,595 (GRCm39)	V270A	probably benign	Het
Gm5591	T	A	7: 38,218,462 (GRCm39)	I804F	possibly damaging	Het
Gm5591	T	C	7: 38,219,856 (GRCm39)	D339G	probably damaging	Het
Ighv2-5	T	A	12: 113,649,127 (GRCm39)	T109S	possibly damaging	Het
Ints4	T	A	7: 97,136,665 (GRCm39)	L119Q	probably damaging	Het
Kansl3	A	T	1: 36,388,028 (GRCm39)	D386E	possibly damaging	Het
Kdm3b	A	T	18: 34,956,717 (GRCm39)	H1224L	probably damaging	Het
Macf1	C	A	4: 123,380,497 (GRCm39)	R1523L	probably damaging	Het
Myo1f	A	G	17: 33,798,835 (GRCm39)		probably null	Het
Nup188	A	G	2: 30,216,523 (GRCm39)	T776A	possibly damaging	Het
Or1q1	G	A	2: 36,887,196 (GRCm39)		probably null	Het
Or2y8	T	A	11: 52,036,189 (GRCm39)	H56L	probably damaging	Het
Or4f56	T	A	2: 111,703,925 (GRCm39)	I92F	possibly damaging	Het
Plxnb1	T	A	9: 108,941,201 (GRCm39)	L1660Q	probably damaging	Het
Ppp1r17	A	G	6: 56,003,123 (GRCm39)	D71G	probably damaging	Het
Ptprt	T	C	2: 161,389,301 (GRCm39)	Q1264R	probably damaging	Het
Rgl3	C	T	9: 21,885,405 (GRCm39)	V642M	probably damaging	Het
Slc26a2	T	C	18: 61,332,052 (GRCm39)	T460A	probably damaging	Het
Smtnl2	T	A	11: 72,282,199 (GRCm39)	M395L	probably damaging	Het
St3gal5	A	T	6: 72,119,184 (GRCm39)	T99S	possibly damaging	Het
Zcchc17	G	A	4: 130,221,014 (GRCm39)	T179M	probably benign	Het
Zfp369	T	C	13: 65,432,746 (GRCm39)	S79P	probably damaging	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
IGL00578:Unc5b	APN	10	60,602,834 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16