Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01955:Unc5b'

181419

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 #

IGL01955

Quality Score

Status

Chromosome

Chromosomal Location

60598373-60667360 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60614034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 272 (T272A)

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: T272A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: T272A

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: T272A

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,273,420 (GRCm39)		noncoding transcript	Het
Abcc1	T	A	16: 14,228,659 (GRCm39)	I302N	probably damaging	Het
Abhd16a	A	G	17: 35,320,316 (GRCm39)	S394G	probably damaging	Het
Adgrv1	T	C	13: 81,330,902 (GRCm39)	Y71C	probably damaging	Het
Apol8	A	G	15: 77,633,899 (GRCm39)	C226R	probably benign	Het
Bbs7	A	G	3: 36,664,471 (GRCm39)	S45P	probably benign	Het
Cacna1b	T	C	2: 24,529,149 (GRCm39)	Y1575C	probably damaging	Het
Cckbr	T	A	7: 105,084,169 (GRCm39)	V301E	probably damaging	Het
Cwc27	A	G	13: 104,944,245 (GRCm39)	Y79H	probably damaging	Het
Dchs1	T	C	7: 105,406,798 (GRCm39)	T2236A	probably benign	Het
Ddx50	T	C	10: 62,482,962 (GRCm39)	R36G	probably benign	Het
Extl3	T	A	14: 65,313,415 (GRCm39)	Y589F	probably benign	Het
Gab2	T	C	7: 96,953,430 (GRCm39)	V601A	probably damaging	Het
Hsd3b1	T	A	3: 98,760,463 (GRCm39)	N176I	probably benign	Het
L3mbtl3	A	T	10: 26,194,336 (GRCm39)	S420R	unknown	Het
Odad2	C	T	18: 7,127,291 (GRCm39)	R974Q	possibly damaging	Het
Or2ak6	T	C	11: 58,592,955 (GRCm39)	S143P	probably damaging	Het
Or52e2	T	A	7: 102,804,061 (GRCm39)	K298*	probably null	Het
Or5g23	A	G	2: 85,439,051 (GRCm39)	F68L	probably benign	Het
Polr2a	T	C	11: 69,632,674 (GRCm39)	D974G	probably damaging	Het
Ptges3l	T	C	11: 101,314,644 (GRCm39)	K13E	possibly damaging	Het
Ptprk	A	G	10: 28,471,861 (GRCm39)		probably benign	Het
Rassf3	T	C	10: 121,253,027 (GRCm39)	Y60C	probably damaging	Het
Rnf157	T	C	11: 116,250,722 (GRCm39)	T160A	probably damaging	Het
Secisbp2l	A	G	2: 125,585,732 (GRCm39)		probably null	Het
Setd2	A	G	9: 110,378,386 (GRCm39)	T734A	probably benign	Het
Skint5	A	G	4: 113,480,933 (GRCm39)		probably null	Het
Slc38a9	A	G	13: 112,831,952 (GRCm39)		probably benign	Het
Snx17	T	G	5: 31,354,426 (GRCm39)		probably benign	Het
Tas2r113	A	T	6: 132,870,817 (GRCm39)	M282L	probably benign	Het
Tbc1d31	A	G	15: 57,805,766 (GRCm39)	N404D	probably benign	Het
Tmem63c	A	T	12: 87,123,982 (GRCm39)	I487F	probably benign	Het
Tpm3	A	G	3: 89,995,742 (GRCm39)	M164V	probably benign	Het
Trafd1	G	T	5: 121,513,217 (GRCm39)	N340K	probably benign	Het
Trpv4	T	A	5: 114,760,743 (GRCm39)	K863*	probably null	Het
Ttn	A	T	2: 76,627,696 (GRCm39)	M13003K	possibly damaging	Het
Tulp1	G	A	17: 28,575,398 (GRCm39)	T103M	probably damaging	Het
Vmn1r82	A	C	7: 12,039,650 (GRCm39)		probably null	Het
Zc3h7b	A	G	15: 81,676,205 (GRCm39)	N704D	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
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

2014-05-07