Mutagenetix > Incidental Mutation

Incidental Mutation 'R6532:Unc5b'

522425

Institutional Source

Beutler Lab

Gene Symbol

Unc5b

Ensembl Gene

ENSMUSG00000020099

Gene Name

unc-5 netrin receptor B

Synonyms

Unc5h2, 6330415E02Rik, D10Bwg0792e

MMRRC Submission

044658-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6532 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60598373-60667360 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60614607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 230 (I230T)

Ref Sequence

ENSEMBL: ENSMUSP00000151251 (fasta)

Gene Model

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

AlphaFold

Q8K1S3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077925
AA Change: I230T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: I230T

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

possibly damaging
Transcript: ENSMUST00000218637
AA Change: I230T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.2286

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

100% (34/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,626,803 (GRCm39)	L1418P	probably damaging	Het
Adal	A	G	2: 120,976,604 (GRCm39)		probably null	Het
Atr	T	A	9: 95,790,461 (GRCm39)	N1600K	probably benign	Het
Cubn	T	C	2: 13,463,813 (GRCm39)	T631A	probably benign	Het
Dpp9	C	T	17: 56,512,854 (GRCm39)	G118D	possibly damaging	Het
Ear1	C	T	14: 44,056,709 (GRCm39)	R53H	probably benign	Het
Exoc1	T	C	5: 76,685,684 (GRCm39)	V132A	probably damaging	Het
Fam227a	C	T	15: 79,520,921 (GRCm39)	R301Q	probably benign	Het
Garnl3	A	T	2: 32,921,131 (GRCm39)	M298K	possibly damaging	Het
Glb1l3	T	C	9: 26,729,738 (GRCm39)	D619G	probably benign	Het
Haspin	A	T	11: 73,028,377 (GRCm39)	C237*	probably null	Het
Hook1	T	G	4: 95,907,993 (GRCm39)		probably null	Het
Hoxa7	A	G	6: 52,194,295 (GRCm39)	F31L	probably benign	Het
Hoxb7	C	A	11: 96,177,714 (GRCm39)	S54*	probably null	Het
Idh3b	AG	AGCACCACAACTG	2: 130,121,593 (GRCm39)		probably null	Het
Ifi207	A	G	1: 173,557,211 (GRCm39)	V516A	possibly damaging	Het
Inca1	T	C	11: 70,586,733 (GRCm39)	M1V	probably null	Het
Kcnt2	A	G	1: 140,511,844 (GRCm39)	T933A	probably damaging	Het
Lama4	G	A	10: 38,924,073 (GRCm39)	D494N	possibly damaging	Het
Lrp1	A	C	10: 127,377,551 (GRCm39)	H4133Q	probably damaging	Het
Lrp1	A	G	10: 127,385,276 (GRCm39)	F3542L	probably damaging	Het
Myo1f	A	G	17: 33,794,820 (GRCm39)	D20G	probably damaging	Het
Nlk	G	T	11: 78,586,881 (GRCm39)	A71E	probably damaging	Het
Nvl	G	A	1: 180,971,708 (GRCm39)		probably null	Het
Or9m1	A	T	2: 87,733,546 (GRCm39)	I158N	probably damaging	Het
Pakap	T	C	4: 57,855,174 (GRCm39)	F168L	probably benign	Het
Pcnx1	C	A	12: 82,027,738 (GRCm39)	H1601N	probably damaging	Het
Pnkp	T	A	7: 44,506,829 (GRCm39)	M1K	probably null	Het
Skic2	G	A	17: 35,063,719 (GRCm39)	R575C	probably damaging	Het
Slc25a54	A	G	3: 109,019,368 (GRCm39)	Y324C	probably damaging	Het
Tdrd3	A	G	14: 87,743,252 (GRCm39)	E400G	probably damaging	Het
Wfdc2	A	G	2: 164,405,296 (GRCm39)	T50A	probably benign	Het
Zfp563	A	G	17: 33,324,672 (GRCm39)	I422M	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGGGTAACACCTAACCAGG -3'
(R):5'- TTCAGGTTCCATCTTACAGTTGG -3'

Sequencing Primer
(F):5'- GTACCTGGGATTTGGCCTCC -3'
(R):5'- AGGTTCCATCTTACAGTTGGCAGAC -3'

Posted On

2018-06-06