Incidental Mutation 'IGL01895:Unc5b'
ID 179357
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 # IGL01895
Quality Score
Status
Chromosome 10
Chromosomal Location 60598373-60667360 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60602864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 845 (F845S)
Ref Sequence ENSEMBL: ENSMUSP00000151251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077925] [ENSMUST00000218637]
AlphaFold Q8K1S3
Predicted Effect probably damaging
Transcript: ENSMUST00000077925
AA Change: F856S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: F856S

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 probably damaging
Transcript: ENSMUST00000218637
AA Change: F845S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 45,678,482 (GRCm39) I56N possibly damaging Het
Akr1c13 A T 13: 4,255,372 (GRCm39) E321V possibly damaging Het
Atp8b3 A T 10: 80,357,662 (GRCm39) V1119D possibly damaging Het
Cacna1e G T 1: 154,319,646 (GRCm39) F1351L probably damaging Het
Cadps2 A G 6: 23,427,274 (GRCm39) W585R probably damaging Het
Ccdc113 C T 8: 96,263,086 (GRCm39) probably benign Het
Ccer1 A T 10: 97,529,912 (GRCm39) I192F unknown Het
Chd8 T C 14: 52,436,551 (GRCm39) N90S probably benign Het
Clca3a1 A T 3: 144,453,333 (GRCm39) C463* probably null Het
Cplane1 T A 15: 8,258,591 (GRCm39) V2279E possibly damaging Het
Cyp2c65 T A 19: 39,060,676 (GRCm39) C179S possibly damaging Het
Dennd4b A G 3: 90,182,874 (GRCm39) Q35R probably benign Het
Enpep T C 3: 129,063,983 (GRCm39) E928G possibly damaging Het
Fem1c T C 18: 46,638,629 (GRCm39) T458A probably benign Het
Fezf2 A T 14: 12,342,498 (GRCm38) *456R probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Iqcm T G 8: 76,615,188 (GRCm39) L423R probably damaging Het
Kcnc4 C A 3: 107,355,534 (GRCm39) V305L probably benign Het
Kif1a G A 1: 92,953,455 (GRCm39) T1337I possibly damaging Het
Lpxn A G 19: 12,810,450 (GRCm39) D298G probably damaging Het
Lypd8 A G 11: 58,281,046 (GRCm39) T203A possibly damaging Het
Mrps28 C T 3: 8,965,119 (GRCm39) V107M probably damaging Het
Myo15b A G 11: 115,774,324 (GRCm39) E586G possibly damaging Het
Pdzk1 C T 3: 96,776,417 (GRCm39) A459V possibly damaging Het
Rbpj A G 5: 53,808,728 (GRCm39) D285G probably damaging Het
Rimbp3 T C 16: 17,029,300 (GRCm39) L908P probably damaging Het
Samd4b T C 7: 28,101,334 (GRCm39) probably null Het
Slc28a2b A C 2: 122,355,572 (GRCm39) Y588S possibly damaging Het
Stau2 C T 1: 16,416,161 (GRCm39) G401S probably damaging Het
Trpa1 A T 1: 14,957,867 (GRCm39) I697K possibly damaging Het
Ttc17 A C 2: 94,205,491 (GRCm39) V285G possibly damaging Het
Vmn1r19 A T 6: 57,382,245 (GRCm39) Q266L probably benign Het
Vmn2r106 T C 17: 20,499,227 (GRCm39) N228S probably benign Het
Vps13d A G 4: 144,882,836 (GRCm39) F919S possibly damaging Het
Zbtb38 C T 9: 96,570,461 (GRCm39) V208I probably benign Het
Zfp990 A T 4: 145,263,427 (GRCm39) T142S probably damaging Het
Zfp990 C A 4: 145,263,428 (GRCm39) T142N probably damaging Het
Other mutations in Unc5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Unc5b APN 10 60,618,995 (GRCm39) missense possibly damaging 0.73
IGL00578:Unc5b APN 10 60,602,834 (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 2014-05-07