Incidental Mutation 'IGL00485:Unc5b'
ID 4720
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 # IGL00485
Quality Score
Status
Chromosome 10
Chromosomal Location 60598373-60667360 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60618995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 49 (Y49C)
Ref Sequence ENSEMBL: ENSMUSP00000151251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077925] [ENSMUST00000218637]
AlphaFold Q8K1S3
Predicted Effect possibly damaging
Transcript: ENSMUST00000077925
AA Change: Y49C

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: Y49C

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000218637
AA Change: Y49C

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,383,497 (GRCm39) probably benign Het
Arhgef37 G A 18: 61,656,942 (GRCm39) T41I probably damaging Het
Brms1 A C 19: 5,099,070 (GRCm39) probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Col4a2 A G 8: 11,489,012 (GRCm39) M1133V probably benign Het
Ctps1 T C 4: 120,410,141 (GRCm39) Y314C probably damaging Het
Defa30 T A 8: 21,625,467 (GRCm39) M77K probably benign Het
Eif3a T C 19: 60,758,328 (GRCm39) R817G unknown Het
Entrep1 G A 19: 23,962,086 (GRCm39) R306W probably damaging Het
Ftdc2 A G 16: 58,455,854 (GRCm39) Y140H probably damaging Het
Greb1l A G 18: 10,555,962 (GRCm39) S1725G possibly damaging Het
Hmgxb4 T C 8: 75,756,131 (GRCm39) S545P probably damaging Het
Hrob C T 11: 102,146,783 (GRCm39) S353F possibly damaging Het
Kif13b A G 14: 65,002,522 (GRCm39) E1049G possibly damaging Het
Mug1 T C 6: 121,864,375 (GRCm39) V1424A probably benign Het
Nlrp2 A G 7: 5,340,547 (GRCm39) V89A probably benign Het
Osbpl11 T G 16: 33,062,115 (GRCm39) W741G probably damaging Het
Pam A G 1: 97,750,678 (GRCm39) V914A possibly damaging Het
Phldb2 T A 16: 45,577,551 (GRCm39) I1117F possibly damaging Het
Pign A T 1: 105,525,448 (GRCm39) L460* probably null Het
Pramel31 G A 4: 144,090,012 (GRCm39) V351I probably damaging Het
Prdm10 A T 9: 31,238,842 (GRCm39) I196F possibly damaging Het
Stk36 T C 1: 74,673,244 (GRCm39) S1044P probably benign Het
Trim43b T C 9: 88,973,695 (GRCm39) T13A probably benign Het
Urb2 T C 8: 124,755,433 (GRCm39) I380T probably damaging Het
Zfyve27 T A 19: 42,171,872 (GRCm39) C229S probably benign Het
Other mutations in Unc5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL01955:Unc5b APN 10 60,614,034 (GRCm39) missense probably benign 0.30
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 2012-04-20