Incidental Mutation 'IGL02982:Unc5d'
ID 406606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Unc5d
Ensembl Gene ENSMUSG00000063626
Gene Name unc-5 netrin receptor D
Synonyms Unc5h4, D930029E11Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.377) question?
Stock # IGL02982
Quality Score
Status
Chromosome 8
Chromosomal Location 28646717-29219636 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 28652853 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 857 (G857E)
Ref Sequence ENSEMBL: ENSMUSP00000147306 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168630] [ENSMUST00000209401] [ENSMUST00000210298] [ENSMUST00000210785] [ENSMUST00000211448]
AlphaFold Q8K1S2
Predicted Effect probably damaging
Transcript: ENSMUST00000168630
AA Change: G929E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
AA Change: G929E

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000209401
AA Change: G855E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000210298
AA Change: G848E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000210785
AA Change: G911E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211448
AA Change: G857E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 G T 8: 24,804,431 A384D probably benign Het
Adamts19 T A 18: 59,024,518 C961S probably damaging Het
Agbl2 G A 2: 90,805,815 C565Y probably damaging Het
Aox3 G A 1: 58,127,687 E190K probably benign Het
Arf2 T G 11: 103,981,776 D74E probably damaging Het
Bptf T G 11: 107,076,674 D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Ces1a A G 8: 93,044,975 F65L probably damaging Het
Def8 T C 8: 123,456,539 probably benign Het
Fat4 T C 3: 38,890,843 L1295P probably damaging Het
Filip1l A G 16: 57,572,232 H1061R probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gldc A G 19: 30,145,145 probably null Het
Gm597 T C 1: 28,778,054 H299R probably damaging Het
Golgb1 A C 16: 36,925,810 D2917A probably damaging Het
Gpc5 G A 14: 115,369,988 C334Y probably damaging Het
Gpsm1 T A 2: 26,324,859 L252Q probably damaging Het
Iars C T 13: 49,709,709 R546C probably benign Het
Kbtbd8 G T 6: 95,126,566 V399L probably benign Het
Kcnd2 A T 6: 21,217,149 D284V probably damaging Het
Kcnj6 T C 16: 94,832,517 K227R possibly damaging Het
Lhx9 A T 1: 138,838,611 H155Q probably damaging Het
Mcm9 A G 10: 53,625,826 V221A probably damaging Het
Myo9a A T 9: 59,908,208 K2237* probably null Het
Ntf3 A T 6: 126,102,377 D55E probably damaging Het
Olfr1229 G T 2: 89,283,109 T29K probably damaging Het
Olfr61 A T 7: 140,637,952 I84F probably benign Het
Plek T A 11: 16,981,826 I342F probably damaging Het
Polrmt A G 10: 79,738,348 Y853H probably damaging Het
Psg29 A G 7: 17,211,707 T401A probably damaging Het
Ptprb A G 10: 116,322,628 T822A probably benign Het
Ptprq A C 10: 107,586,684 F1616V probably damaging Het
Rpe65 T A 3: 159,600,361 V19E probably damaging Het
Scamp2 G A 9: 57,581,549 A178T probably benign Het
Spta1 A G 1: 174,187,288 I445V probably benign Het
Tas2r135 A G 6: 42,406,253 E242G probably benign Het
Ttc22 T C 4: 106,638,586 V379A probably damaging Het
Usp28 A G 9: 49,018,439 I43V probably benign Het
Vmn2r68 A T 7: 85,234,441 M152K probably benign Het
Wrn C T 8: 33,343,066 G133R probably damaging Het
Zfyve26 G A 12: 79,263,870 T187M probably damaging Het
Zic2 A G 14: 122,478,567 E367G probably damaging Het
Other mutations in Unc5d
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4287:Unc5d UTSW 8 28719796 missense probably benign 0.00
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
Posted On 2016-08-02