Incidental Mutation 'R0147:Unc5b'
ID 22629
Institutional Source Beutler Lab
Gene Symbol Unc5b
Ensembl Gene ENSMUSG00000020099
Gene Name unc-5 netrin receptor B
Synonyms Unc5h2, 6330415E02Rik, D10Bwg0792e
MMRRC Submission 038431-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0147 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 10
Chromosomal Location 60598373-60667360 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 60608076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 675 (S675T)
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: S686T

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077080
Gene: ENSMUSG00000020099
AA Change: S686T

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: S675T

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.4611 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 94.5%
  • 20x: 86.1%
Validation Efficiency 67% (88/131)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,639,405 (GRCm39) probably null Het
Abtb2 A G 2: 103,397,480 (GRCm39) I137V probably benign Het
Ank1 T A 8: 23,613,993 (GRCm39) N1545K probably damaging Het
Arl6 T C 16: 59,439,153 (GRCm39) probably benign Het
Avl9 T A 6: 56,713,487 (GRCm39) D248E probably benign Het
Becn1 T C 11: 101,192,562 (GRCm39) E40G probably damaging Het
Bod1l G T 5: 41,976,040 (GRCm39) A1758E possibly damaging Het
Btbd16 C T 7: 130,381,324 (GRCm39) T19I probably damaging Het
Casc3 T A 11: 98,713,325 (GRCm39) N246K possibly damaging Het
Celf1 G T 2: 90,835,035 (GRCm39) probably benign Het
Chrm3 G T 13: 9,928,780 (GRCm39) N85K probably damaging Het
Cluh T A 11: 74,556,764 (GRCm39) Y935N probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col6a5 T C 9: 105,802,993 (GRCm39) D1324G unknown Het
Ctcfl T C 2: 172,960,340 (GRCm39) D81G possibly damaging Het
D630003M21Rik C T 2: 158,044,987 (GRCm39) probably benign Het
Ddx39a C T 8: 84,449,105 (GRCm39) R298C possibly damaging Het
Dnmt3b T G 2: 153,503,377 (GRCm39) N9K possibly damaging Het
Dock8 T C 19: 25,096,823 (GRCm39) L577P probably benign Het
Drc1 A T 5: 30,486,487 (GRCm39) N13I possibly damaging Het
Eml4 T A 17: 83,729,081 (GRCm39) N85K probably damaging Het
Epb41l4a T C 18: 33,931,853 (GRCm39) T581A probably damaging Het
Epha3 T C 16: 63,433,307 (GRCm39) D446G possibly damaging Het
Fam209 G T 2: 172,315,900 (GRCm39) G92C probably damaging Het
Fam98c T A 7: 28,852,146 (GRCm39) R340* probably null Het
Fbxw10 T G 11: 62,738,307 (GRCm39) probably null Het
Galr1 A G 18: 82,423,695 (GRCm39) L194P probably benign Het
Gar1 T C 3: 129,623,122 (GRCm39) H89R probably damaging Het
Gbp4 T A 5: 105,267,362 (GRCm39) Y519F probably benign Het
Gm28042 T A 2: 119,866,944 (GRCm39) S196T probably benign Het
Grid2 T C 6: 64,510,571 (GRCm39) Y734H probably benign Het
Grm6 T A 11: 50,750,144 (GRCm39) I466N possibly damaging Het
Hectd3 T C 4: 116,854,237 (GRCm39) probably benign Het
Hpse2 A C 19: 42,920,099 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,302 (GRCm39) I148T probably damaging Het
Htr1d C A 4: 136,170,788 (GRCm39) T339K probably damaging Het
Ip6k1 T A 9: 107,923,093 (GRCm39) D408E probably damaging Het
Irs2 A T 8: 11,057,568 (GRCm39) M288K probably damaging Het
Kansl3 A T 1: 36,392,897 (GRCm39) C225S probably damaging Het
Knop1 C A 7: 118,445,061 (GRCm39) R301L probably benign Het
Lama5 T C 2: 179,832,199 (GRCm39) H1714R probably benign Het
Mettl14 G A 3: 123,165,043 (GRCm39) T316I probably damaging Het
Mmp15 A T 8: 96,098,945 (GRCm39) N591Y probably benign Het
Mprip T A 11: 59,627,899 (GRCm39) D93E possibly damaging Het
Mtmr14 T A 6: 113,237,627 (GRCm39) probably benign Het
Muc5ac T C 7: 141,364,776 (GRCm39) S1917P probably benign Het
Muc6 C T 7: 141,238,255 (GRCm39) C75Y probably damaging Het
Naip1 A T 13: 100,563,418 (GRCm39) H582Q possibly damaging Het
Nbeal2 G A 9: 110,471,211 (GRCm39) R264* probably null Het
Neb T C 2: 52,139,388 (GRCm39) K140E probably damaging Het
Nfya A G 17: 48,706,026 (GRCm39) V48A possibly damaging Het
Ngf G T 3: 102,417,119 (GRCm39) probably benign Het
Nsmce2 T G 15: 59,250,806 (GRCm39) S26A probably damaging Het
Or52s19 T C 7: 103,007,613 (GRCm39) T263A possibly damaging Het
Or5m13b T A 2: 85,754,362 (GRCm39) I250N possibly damaging Het
Or7e177 T G 9: 20,212,387 (GRCm39) M297R probably damaging Het
Pax1 A G 2: 147,215,654 (GRCm39) S424G probably benign Het
Pcdhb19 A T 18: 37,630,235 (GRCm39) Q10L probably benign Het
Pdcl T C 2: 37,242,142 (GRCm39) I203V probably benign Het
Pknox1 T A 17: 31,823,764 (GRCm39) N379K probably benign Het
Plxna1 C T 6: 89,297,692 (GRCm39) A1831T possibly damaging Het
Prodh T G 16: 17,895,677 (GRCm39) Q360P probably damaging Het
Pygo2 T C 3: 89,340,610 (GRCm39) V299A probably damaging Het
Raf1 C T 6: 115,609,934 (GRCm39) G202S probably benign Het
Rgs11 T A 17: 26,426,433 (GRCm39) probably null Het
Rmc1 C T 18: 12,322,328 (GRCm39) R594C probably damaging Het
Rnf13 A G 3: 57,709,889 (GRCm39) D144G probably damaging Het
Rtel1 T C 2: 180,962,839 (GRCm39) C31R probably damaging Het
Rubcnl T A 14: 75,279,898 (GRCm39) I427K probably damaging Het
Sec23ip C T 7: 128,380,775 (GRCm39) probably benign Het
Slc25a26 T A 6: 94,569,507 (GRCm39) probably null Het
Slc6a7 A G 18: 61,135,183 (GRCm39) probably benign Het
Slco6b1 A T 1: 96,915,562 (GRCm39) noncoding transcript Het
Spata17 A G 1: 186,844,798 (GRCm39) V111A probably damaging Het
Spata22 T A 11: 73,221,979 (GRCm39) M1K probably null Het
Svep1 C T 4: 58,116,608 (GRCm39) D881N possibly damaging Het
Sypl2 T A 3: 108,126,411 (GRCm39) N67I possibly damaging Het
Tasor A G 14: 27,193,725 (GRCm39) D975G probably benign Het
Tenm3 T C 8: 48,689,755 (GRCm39) Y1944C probably damaging Het
Tm9sf4 G T 2: 153,037,233 (GRCm39) V365L probably benign Het
Tmc3 T C 7: 83,256,950 (GRCm39) V401A probably damaging Het
Trpm2 C T 10: 77,761,659 (GRCm39) G997D probably damaging Het
Vmn1r217 A G 13: 23,298,107 (GRCm39) M265T probably benign Het
Vps54 T A 11: 21,250,259 (GRCm39) D548E probably benign Het
Wdfy3 A G 5: 102,065,277 (GRCm39) V1297A probably benign Het
Wdr46 T A 17: 34,159,997 (GRCm39) F70I probably benign Het
Zdbf2 C T 1: 63,343,165 (GRCm39) Q515* probably null Het
Zfp710 T A 7: 79,731,721 (GRCm39) C299* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CAAAGAGATTCCCCTGCTTGTCTCC -3'
(R):5'- TGACTCTCAAAACGGCATGATCCC -3'

Sequencing Primer
(F):5'- CATCTGGGGAGGGTTCTAACAAC -3'
(R):5'- ATGATCCCAGCCCAGGTG -3'
Posted On 2013-04-16