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 D930029E11Rik, Unc5h4
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # IGL02982
Quality Score
Status
Chromosome 8
Chromosomal Location 29136745-29709664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 29142881 bp (GRCm39)
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: 25,294,447 (GRCm39) A384D probably benign Het
Adamts19 T A 18: 59,157,590 (GRCm39) C961S probably damaging Het
Agbl2 G A 2: 90,636,159 (GRCm39) C565Y probably damaging Het
Aox3 G A 1: 58,166,846 (GRCm39) E190K probably benign Het
Arf2 T G 11: 103,872,602 (GRCm39) D74E probably damaging Het
Bptf T G 11: 106,967,500 (GRCm39) D960A probably damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Ces1a A G 8: 93,771,603 (GRCm39) F65L probably damaging Het
Def8 T C 8: 124,183,278 (GRCm39) probably benign Het
Fat4 T C 3: 38,944,992 (GRCm39) L1295P probably damaging Het
Filip1l A G 16: 57,392,595 (GRCm39) H1061R probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gldc A G 19: 30,122,545 (GRCm39) probably null Het
Golgb1 A C 16: 36,746,172 (GRCm39) D2917A probably damaging Het
Gpc5 G A 14: 115,607,400 (GRCm39) C334Y probably damaging Het
Gpsm1 T A 2: 26,214,871 (GRCm39) L252Q probably damaging Het
Iars1 C T 13: 49,863,185 (GRCm39) R546C probably benign Het
Kbtbd8 G T 6: 95,103,547 (GRCm39) V399L probably benign Het
Kcnd2 A T 6: 21,217,148 (GRCm39) D284V probably damaging Het
Kcnj6 T C 16: 94,633,376 (GRCm39) K227R possibly damaging Het
Lhx9 A T 1: 138,766,349 (GRCm39) H155Q probably damaging Het
Mcm9 A G 10: 53,501,922 (GRCm39) V221A probably damaging Het
Myo9a A T 9: 59,815,491 (GRCm39) K2237* probably null Het
Ntf3 A T 6: 126,079,340 (GRCm39) D55E probably damaging Het
Or13a28 A T 7: 140,217,865 (GRCm39) I84F probably benign Het
Or4c15b G T 2: 89,113,453 (GRCm39) T29K probably damaging Het
Plek T A 11: 16,931,826 (GRCm39) I342F probably damaging Het
Polrmt A G 10: 79,574,182 (GRCm39) Y853H probably damaging Het
Psg29 A G 7: 16,945,632 (GRCm39) T401A probably damaging Het
Ptprb A G 10: 116,158,533 (GRCm39) T822A probably benign Het
Ptprq A C 10: 107,422,545 (GRCm39) F1616V probably damaging Het
Rpe65 T A 3: 159,305,998 (GRCm39) V19E probably damaging Het
Scamp2 G A 9: 57,488,832 (GRCm39) A178T probably benign Het
Spata31e5 T C 1: 28,817,135 (GRCm39) H299R probably damaging Het
Spta1 A G 1: 174,014,854 (GRCm39) I445V probably benign Het
Tas2r135 A G 6: 42,383,187 (GRCm39) E242G probably benign Het
Ttc22 T C 4: 106,495,783 (GRCm39) V379A probably damaging Het
Usp28 A G 9: 48,929,739 (GRCm39) I43V probably benign Het
Vmn2r68 A T 7: 84,883,649 (GRCm39) M152K probably benign Het
Wrn C T 8: 33,833,094 (GRCm39) G133R probably damaging Het
Zfyve26 G A 12: 79,310,644 (GRCm39) T187M probably damaging Het
Zic2 A G 14: 122,715,979 (GRCm39) E367G probably damaging Het
Other mutations in Unc5d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Unc5d APN 8 29,209,854 (GRCm39) missense probably damaging 0.97
IGL00687:Unc5d APN 8 29,205,841 (GRCm39) splice site probably benign
IGL00970:Unc5d APN 8 29,186,456 (GRCm39) missense probably benign 0.15
IGL01992:Unc5d APN 8 29,142,819 (GRCm39) missense probably damaging 0.98
IGL02024:Unc5d APN 8 29,142,855 (GRCm39) missense probably benign 0.08
IGL02080:Unc5d APN 8 29,381,316 (GRCm39) splice site probably null
IGL02902:Unc5d APN 8 29,365,634 (GRCm39) missense probably damaging 1.00
R0071:Unc5d UTSW 8 29,209,854 (GRCm39) missense possibly damaging 0.62
R0071:Unc5d UTSW 8 29,209,854 (GRCm39) missense possibly damaging 0.62
R0761:Unc5d UTSW 8 29,186,560 (GRCm39) splice site probably null
R0941:Unc5d UTSW 8 29,249,055 (GRCm39) missense possibly damaging 0.85
R1086:Unc5d UTSW 8 29,365,658 (GRCm39) missense possibly damaging 0.87
R1625:Unc5d UTSW 8 29,173,234 (GRCm39) missense probably damaging 1.00
R1635:Unc5d UTSW 8 29,250,777 (GRCm39) missense probably benign 0.14
R1682:Unc5d UTSW 8 29,249,109 (GRCm39) missense probably damaging 1.00
R1698:Unc5d UTSW 8 29,186,506 (GRCm39) missense probably damaging 0.99
R2015:Unc5d UTSW 8 29,249,007 (GRCm39) missense probably damaging 1.00
R2132:Unc5d UTSW 8 29,365,557 (GRCm39) missense possibly damaging 0.50
R2174:Unc5d UTSW 8 29,184,568 (GRCm39) missense probably damaging 0.99
R2210:Unc5d UTSW 8 29,251,825 (GRCm39) missense probably damaging 0.97
R3684:Unc5d UTSW 8 29,184,620 (GRCm39) missense probably damaging 1.00
R3734:Unc5d UTSW 8 29,251,826 (GRCm39) missense probably benign 0.02
R4093:Unc5d UTSW 8 29,334,865 (GRCm39) missense possibly damaging 0.87
R4287:Unc5d UTSW 8 29,209,824 (GRCm39) missense probably benign 0.00
R4888:Unc5d UTSW 8 29,156,927 (GRCm39) missense probably benign 0.02
R5000:Unc5d UTSW 8 29,205,775 (GRCm39) missense possibly damaging 0.90
R5060:Unc5d UTSW 8 29,209,723 (GRCm39) missense probably benign 0.00
R5076:Unc5d UTSW 8 29,184,704 (GRCm39) missense possibly damaging 0.88
R5696:Unc5d UTSW 8 29,156,870 (GRCm39) missense probably benign 0.06
R6024:Unc5d UTSW 8 29,365,539 (GRCm39) missense possibly damaging 0.96
R6077:Unc5d UTSW 8 29,165,335 (GRCm39) missense possibly damaging 0.94
R6259:Unc5d UTSW 8 29,156,820 (GRCm39) missense probably benign 0.00
R6387:Unc5d UTSW 8 29,365,554 (GRCm39) nonsense probably null
R7038:Unc5d UTSW 8 29,205,749 (GRCm39) critical splice donor site probably null
R7577:Unc5d UTSW 8 29,381,449 (GRCm39) missense probably damaging 1.00
R7641:Unc5d UTSW 8 29,210,003 (GRCm39) missense probably damaging 1.00
R8175:Unc5d UTSW 8 29,334,855 (GRCm39) missense probably damaging 1.00
R8426:Unc5d UTSW 8 29,210,016 (GRCm39) missense probably damaging 1.00
R8465:Unc5d UTSW 8 29,156,877 (GRCm39) missense probably damaging 1.00
R8748:Unc5d UTSW 8 29,186,453 (GRCm39) missense probably benign 0.15
R9228:Unc5d UTSW 8 29,165,448 (GRCm39) missense probably damaging 1.00
R9234:Unc5d UTSW 8 29,250,877 (GRCm39) missense probably damaging 0.98
R9257:Unc5d UTSW 8 29,215,174 (GRCm39) critical splice donor site probably null
R9338:Unc5d UTSW 8 29,709,471 (GRCm39) unclassified probably benign
R9524:Unc5d UTSW 8 29,365,639 (GRCm39) missense probably damaging 1.00
R9732:Unc5d UTSW 8 29,381,319 (GRCm39) critical splice donor site probably null
R9738:Unc5d UTSW 8 29,214,332 (GRCm39) missense probably benign 0.07
R9742:Unc5d UTSW 8 29,156,792 (GRCm39) critical splice donor site probably null
R9743:Unc5d UTSW 8 29,209,801 (GRCm39) missense possibly damaging 0.84
X0058:Unc5d UTSW 8 29,250,758 (GRCm39) missense probably benign 0.12
X0060:Unc5d UTSW 8 29,184,704 (GRCm39) missense possibly damaging 0.88
Z1176:Unc5d UTSW 8 29,249,081 (GRCm39) missense probably damaging 1.00
Z1177:Unc5d UTSW 8 29,381,336 (GRCm39) missense probably benign 0.03
Posted On 2016-08-02