Incidental Mutation 'R4287:Unc5d'
ID 322067
Institutional Source Beutler Lab
Gene Symbol Unc5d
Ensembl Gene ENSMUSG00000063626
Gene Name unc-5 netrin receptor D
Synonyms D930029E11Rik, Unc5h4
MMRRC Submission 041652-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # R4287 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 29136745-29709664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29209824 bp (GRCm39)
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

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 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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc5 A G 5: 122,938,664 (GRCm39) V362A probably benign Het
Ash1l T A 3: 88,973,722 (GRCm39) C2594S probably damaging Het
Ccdc82 C A 9: 13,253,043 (GRCm39) Q303K probably benign Het
Cog1 A G 11: 113,544,853 (GRCm39) Y345C probably damaging Het
Fpgt T C 3: 154,796,997 (GRCm39) probably benign Het
Glrb A T 3: 80,752,539 (GRCm39) V408D possibly damaging Het
Gm7135 A G 1: 97,328,123 (GRCm39) noncoding transcript Het
Il1rn T C 2: 24,239,557 (GRCm39) L151P probably damaging Het
Itgav G T 2: 83,555,184 (GRCm39) E36* probably null Het
Kidins220 G A 12: 25,106,845 (GRCm39) E1433K possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Klra3 A G 6: 130,311,265 (GRCm39) C39R probably benign Het
Lce1i A G 3: 92,684,742 (GRCm39) S145P unknown Het
Memo1 T C 17: 74,562,293 (GRCm39) probably null Het
Mpp3 G A 11: 101,914,289 (GRCm39) A102V probably damaging Het
Mug2 T A 6: 122,040,632 (GRCm39) D727E probably benign Het
Ndufb8 T C 19: 44,541,130 (GRCm39) I107V probably benign Het
Or5h18 A T 16: 58,847,976 (GRCm39) M98K probably benign Het
Pnn C T 12: 59,118,956 (GRCm39) T513I possibly damaging Het
Ric8a A G 7: 140,441,335 (GRCm39) Y210C probably damaging Het
Ripor2 G A 13: 24,908,992 (GRCm39) V1037M probably damaging Het
Rreb1 A T 13: 38,115,907 (GRCm39) T1089S probably benign Het
Rrs1 C T 1: 9,616,440 (GRCm39) S231L probably damaging Het
Rrs1 C T 1: 9,616,448 (GRCm39) R234C possibly damaging Het
Sec23ip A G 7: 128,379,057 (GRCm39) D838G probably benign Het
Setbp1 T C 18: 78,902,276 (GRCm39) I464V probably benign Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
Slc41a3 A T 6: 90,617,904 (GRCm39) H310L probably benign Het
Smurf1 A G 5: 144,828,268 (GRCm39) S363P probably benign Het
Tln1 C T 4: 43,543,509 (GRCm39) R1269Q probably benign Het
Tmed3 A G 9: 89,586,951 (GRCm39) S10P probably benign Het
Tomm70a T G 16: 56,960,985 (GRCm39) Y313D probably damaging Het
Umodl1 A G 17: 31,207,039 (GRCm39) E810G probably benign Het
Unc5c T C 3: 141,420,435 (GRCm39) I52T probably damaging Het
Vmn2r97 A T 17: 19,168,337 (GRCm39) probably benign Het
Zfp629 T C 7: 127,211,110 (GRCm39) Y233C probably damaging Het
Zfp986 T C 4: 145,619,088 (GRCm39) probably null 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
IGL02982:Unc5d APN 8 29,142,881 (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
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
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