Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Unc5b'

30627

Institutional Source

Beutler Lab

Gene Symbol

Unc5b

Ensembl Gene

ENSMUSG00000020099

Gene Name

unc-5 netrin receptor B

Synonyms

Unc5h2, D10Bwg0792e, 6330415E02Rik

MMRRC Submission

038579-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60762593-60831581 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60778940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 193 (V193F)

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: V193F

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: V193F

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: V193F

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 138,173,582	L235Q	probably damaging	Het
Adam6b	T	A	12: 113,490,655	V364D	probably benign	Het
Akap13	T	C	7: 75,609,929	L767P	probably benign	Het
Akap13	T	A	7: 75,730,500	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,605,377	V69A	probably benign	Het
Ankmy1	C	T	1: 92,896,190	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,638,053	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052	I342N	probably damaging	Het
Calhm2	T	C	19: 47,132,950	D260G	possibly damaging	Het
Camk2a	A	G	18: 60,958,238	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040	V57I	probably damaging	Het
Cyth3	A	G	5: 143,684,426		probably benign	Het
Def6	A	G	17: 28,220,180	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,911,870	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,539,747	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700		probably null	Het
Fam205a1	T	C	4: 42,851,161	I332V	probably benign	Het
Fbxo45	A	T	16: 32,238,405	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270	T206M	probably benign	Het
Gls	T	C	1: 52,188,699	R79G	probably damaging	Het
Gm436	A	T	4: 144,686,220	M50K	possibly damaging	Het
Grhl1	T	C	12: 24,581,515	S156P	probably benign	Het
Ipo8	C	T	6: 148,775,042	S983N	probably benign	Het
Kcna7	C	T	7: 45,409,444	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375	F104L	probably damaging	Het
Mib2	A	T	4: 155,656,288	N626K	probably damaging	Het
Mrgprh	T	C	17: 12,876,956	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149		noncoding transcript	Het
Myh15	A	G	16: 49,182,959	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,821,042	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881	N57S	probably benign	Het
Nectin3	C	T	16: 46,458,187	V282M	probably damaging	Het
Nup188	G	T	2: 30,330,988	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805	V462A	probably damaging	Het
Olfr1044	A	C	2: 86,171,706	F37C	probably damaging	Het
Olfr1225	A	T	2: 89,170,413	F266L	probably benign	Het
Olfr305	A	T	7: 86,363,805	C177*	probably null	Het
Opcml	A	G	9: 28,813,398	H164R	possibly damaging	Het
Pacrg	A	G	17: 10,403,418	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024		probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763	A168D	probably damaging	Het
Sptb	T	C	12: 76,621,371	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,188,326	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,398,777	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Unc45a	T	C	7: 80,326,344	T796A	probably damaging	Het
Upp1	G	T	11: 9,129,590	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522	Y322H	probably benign	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
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
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
RF019:Unc5b	UTSW	10	60783183	missense	probably damaging	1.00
X0027:Unc5b	UTSW	10	60777459	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTAATGAGGGTCTACCCAGTGTG -3'
(R):5'- ACGGCCACCGTTTAGAGATGAGAG -3'

Sequencing Primer
(F):5'- TCTTGGTAGAGGGGTAACACC -3'
(R):5'- AGGGATGGGGTAACCACC -3'

Posted On

2013-04-24