Mutagenetix > Incidental Mutations

Incidental Mutation 'R4287:Unc5d'

322067

Institutional Source

Beutler Lab

Gene Symbol

Unc5d

Ensembl Gene

ENSMUSG00000063626

Gene Name

unc-5 netrin receptor D

Synonyms

Unc5h4, D930029E11Rik

MMRRC Submission

041652-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R4287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28646717-29219636 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28719796 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 432 (Y432F)

Ref Sequence

ENSEMBL: ENSMUSP00000147306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168630] [ENSMUST00000209401] [ENSMUST00000210298] [ENSMUST00000210785] [ENSMUST00000211448]

AlphaFold

Q8K1S2

Predicted Effect

probably benign
Transcript: ENSMUST00000168630
AA Change: Y504F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
AA Change: Y504F

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
SCOP:d1cs6a2	52	146	5e-3	SMART
IGc2	169	236	2.66e-8	SMART
TSP1	253	304	2.29e-13	SMART
TSP1	309	358	6.33e-7	SMART
transmembrane domain	383	405	N/A	INTRINSIC
Pfam:ZU5	545	642	1.6e-33	PFAM
DEATH	850	941	4.77e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209401
AA Change: Y430F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000210298
AA Change: Y443F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000210785
AA Change: Y486F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000211448
AA Change: Y432F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Meta Mutation Damage Score

0.0636

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (40/41)

MGI Phenotype

PHENOTYPE: Mice exhibit impaired induced growth cone collapse response and accelerated radial migration of cortical neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc5	A	G	5: 122,800,601	V362A	probably benign	Het
Ash1l	T	A	3: 89,066,415	C2594S	probably damaging	Het
Ccdc82	C	A	9: 13,253,418	Q303K	probably benign	Het
Cog1	A	G	11: 113,654,027	Y345C	probably damaging	Het
Fpgt	T	C	3: 155,091,360		probably benign	Het
Glrb	A	T	3: 80,845,232	V408D	possibly damaging	Het
Gm7135	A	G	1: 97,400,398		noncoding transcript	Het
Il1rn	T	C	2: 24,349,545	L151P	probably damaging	Het
Itgav	G	T	2: 83,724,840	E36*	probably null	Het
Kidins220	G	A	12: 25,056,846	E1433K	possibly damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra3	A	G	6: 130,334,302	C39R	probably benign	Het
Lce1i	A	G	3: 92,777,435	S145P	unknown	Het
Memo1	T	C	17: 74,255,298		probably null	Het
Mpp3	G	A	11: 102,023,463	A102V	probably damaging	Het
Mug2	T	A	6: 122,063,673	D727E	probably benign	Het
Ndufb8	T	C	19: 44,552,691	I107V	probably benign	Het
Olfr186	A	T	16: 59,027,613	M98K	probably benign	Het
Pnn	C	T	12: 59,072,170	T513I	possibly damaging	Het
Ric8a	A	G	7: 140,861,422	Y210C	probably damaging	Het
Ripor2	G	A	13: 24,725,009	V1037M	probably damaging	Het
Rreb1	A	T	13: 37,931,931	T1089S	probably benign	Het
Rrs1	C	T	1: 9,546,215	S231L	probably damaging	Het
Rrs1	C	T	1: 9,546,223	R234C	possibly damaging	Het
Sec23ip	A	G	7: 128,777,333	D838G	probably benign	Het
Setbp1	T	C	18: 78,859,061	I464V	probably benign	Het
Slc25a51	C	T	4: 45,399,768	V141M	probably benign	Het
Slc41a3	A	T	6: 90,640,922	H310L	probably benign	Het
Smurf1	A	G	5: 144,891,458	S363P	probably benign	Het
Tln1	C	T	4: 43,543,509	R1269Q	probably benign	Het
Tmed3	A	G	9: 89,704,898	S10P	probably benign	Het
Tomm70a	T	G	16: 57,140,622	Y313D	probably damaging	Het
Umodl1	A	G	17: 30,988,065	E810G	probably benign	Het
Unc5c	T	C	3: 141,714,674	I52T	probably damaging	Het
Vmn2r97	A	T	17: 18,948,075		probably benign	Het
Zfp629	T	C	7: 127,611,938	Y233C	probably damaging	Het
Zfp986	T	C	4: 145,892,518		probably null	Het

Other mutations in Unc5d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Unc5d	APN	8	28719826	missense	probably damaging	0.97
IGL00687:Unc5d	APN	8	28715813	splice site	probably benign
IGL00970:Unc5d	APN	8	28696428	missense	probably benign	0.15
IGL01992:Unc5d	APN	8	28652791	missense	probably damaging	0.98
IGL02024:Unc5d	APN	8	28652827	missense	probably benign	0.08
IGL02080:Unc5d	APN	8	28891288	splice site	probably null
IGL02902:Unc5d	APN	8	28875606	missense	probably damaging	1.00
IGL02982:Unc5d	APN	8	28652853	missense	probably damaging	1.00
R0071:Unc5d	UTSW	8	28719826	missense	possibly damaging	0.62
R0071:Unc5d	UTSW	8	28719826	missense	possibly damaging	0.62
R0761:Unc5d	UTSW	8	28696532	splice site	probably null
R0941:Unc5d	UTSW	8	28759027	missense	possibly damaging	0.85
R1086:Unc5d	UTSW	8	28875630	missense	possibly damaging	0.87
R1625:Unc5d	UTSW	8	28683206	missense	probably damaging	1.00
R1635:Unc5d	UTSW	8	28760749	missense	probably benign	0.14
R1682:Unc5d	UTSW	8	28759081	missense	probably damaging	1.00
R1698:Unc5d	UTSW	8	28696478	missense	probably damaging	0.99
R2015:Unc5d	UTSW	8	28758979	missense	probably damaging	1.00
R2132:Unc5d	UTSW	8	28875529	missense	possibly damaging	0.50
R2174:Unc5d	UTSW	8	28694540	missense	probably damaging	0.99
R2210:Unc5d	UTSW	8	28761797	missense	probably damaging	0.97
R3684:Unc5d	UTSW	8	28694592	missense	probably damaging	1.00
R3734:Unc5d	UTSW	8	28761798	missense	probably benign	0.02
R4093:Unc5d	UTSW	8	28844837	missense	possibly damaging	0.87
R4888:Unc5d	UTSW	8	28666899	missense	probably benign	0.02
R5000:Unc5d	UTSW	8	28715747	missense	possibly damaging	0.90
R5060:Unc5d	UTSW	8	28719695	missense	probably benign	0.00
R5076:Unc5d	UTSW	8	28694676	missense	possibly damaging	0.88
R5696:Unc5d	UTSW	8	28666842	missense	probably benign	0.06
R6024:Unc5d	UTSW	8	28875511	missense	possibly damaging	0.96
R6077:Unc5d	UTSW	8	28675307	missense	possibly damaging	0.94
R6259:Unc5d	UTSW	8	28666792	missense	probably benign	0.00
R6387:Unc5d	UTSW	8	28875526	nonsense	probably null
R7038:Unc5d	UTSW	8	28715721	critical splice donor site	probably null
R7577:Unc5d	UTSW	8	28891421	missense	probably damaging	1.00
R7641:Unc5d	UTSW	8	28719975	missense	probably damaging	1.00
R8175:Unc5d	UTSW	8	28844827	missense	probably damaging	1.00
R8426:Unc5d	UTSW	8	28719988	missense	probably damaging	1.00
R8465:Unc5d	UTSW	8	28666849	missense	probably damaging	1.00
R8748:Unc5d	UTSW	8	28696425	missense	probably benign	0.15
R9228:Unc5d	UTSW	8	28675420	missense	probably damaging	1.00
R9234:Unc5d	UTSW	8	28760849	missense	probably damaging	0.98
R9257:Unc5d	UTSW	8	28725146	critical splice donor site	probably null
R9338:Unc5d	UTSW	8	29219443	unclassified	probably benign
X0058:Unc5d	UTSW	8	28760730	missense	probably benign	0.12
X0060:Unc5d	UTSW	8	28694676	missense	possibly damaging	0.88
Z1176:Unc5d	UTSW	8	28759053	missense	probably damaging	1.00
Z1177:Unc5d	UTSW	8	28891308	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTTCGCTGATCACTTCCAAATG -3'
(R):5'- AGCCAGATCTGACTGTGAGC -3'

Sequencing Primer
(F):5'- CACCTGTATTTGGCATTACTAAGCG -3'
(R):5'- ATCTGACTGTGAGCCGGACATAC -3'

Posted On

2015-06-20