Incidental Mutation 'R0028:Unc5a'
ID 18664
Institutional Source Beutler Lab
Gene Symbol Unc5a
Ensembl Gene ENSMUSG00000025876
Gene Name unc-5 netrin receptor A
Synonyms Unc5h1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0028 (G1)
Quality Score
Status Validated
Chromosome 13
Chromosomal Location 55097224-55153831 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55151726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 50 (S50G)
Ref Sequence ENSEMBL: ENSMUSP00000115531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026994] [ENSMUST00000052949] [ENSMUST00000109994] [ENSMUST00000123097] [ENSMUST00000126234] [ENSMUST00000132309] [ENSMUST00000137967] [ENSMUST00000136852] [ENSMUST00000153665]
AlphaFold Q8K1S4
Predicted Effect possibly damaging
Transcript: ENSMUST00000026994
AA Change: S775G

PolyPhen 2 Score 0.527 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876
AA Change: S775G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SCOP:d1biha1 44 143 1e-4 SMART
IG 155 240 1.8e-5 SMART
TSP1 245 296 1.25e-14 SMART
TSP1 301 350 1.98e-8 SMART
transmembrane domain 360 382 N/A INTRINSIC
ZU5 495 598 3.68e-58 SMART
DEATH 805 896 5.86e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000052949
SMART Domains Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877

DomainStartEndE-ValueType
Pfam:Hexokinase_1 29 232 3.7e-76 PFAM
Pfam:Hexokinase_2 234 473 1.9e-87 PFAM
Pfam:Hexokinase_1 475 674 2.2e-77 PFAM
Pfam:Hexokinase_2 676 915 2.3e-103 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109994
AA Change: S719G

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876
AA Change: S719G

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
SCOP:d1biha1 44 143 1e-4 SMART
IG 155 240 1.8e-5 SMART
TSP1 245 294 1.98e-8 SMART
transmembrane domain 305 327 N/A INTRINSIC
ZU5 439 542 3.68e-58 SMART
DEATH 749 840 5.86e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123097
SMART Domains Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877

DomainStartEndE-ValueType
Pfam:Hexokinase_1 29 232 3.3e-77 PFAM
Pfam:Hexokinase_2 234 457 6e-74 PFAM
Pfam:Hexokinase_1 430 629 3e-78 PFAM
Pfam:Hexokinase_2 631 870 1e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126234
SMART Domains Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877

DomainStartEndE-ValueType
Pfam:Hexokinase_1 31 230 2.4e-63 PFAM
Pfam:Hexokinase_2 236 470 2.9e-62 PFAM
Pfam:Hexokinase_1 480 673 2e-69 PFAM
Pfam:Hexokinase_2 678 912 1.5e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132309
SMART Domains Protein: ENSMUSP00000117254
Gene: ENSMUSG00000025877

DomainStartEndE-ValueType
Pfam:Hexokinase_1 29 164 4.1e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000137967
AA Change: S50G

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115531
Gene: ENSMUSG00000025876
AA Change: S50G

DomainStartEndE-ValueType
PDB:3G5B|A 1 118 6e-36 PDB
Blast:DEATH 80 119 9e-22 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142906
Predicted Effect probably benign
Transcript: ENSMUST00000136852
SMART Domains Protein: ENSMUSP00000116585
Gene: ENSMUSG00000025876

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
TSP1 20 70 1.23e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153665
SMART Domains Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877

DomainStartEndE-ValueType
Pfam:Hexokinase_1 1 177 8.5e-70 PFAM
Pfam:Hexokinase_2 179 418 9.4e-88 PFAM
Pfam:Hexokinase_1 420 619 1.2e-77 PFAM
Pfam:Hexokinase_2 621 860 1.1e-103 PFAM
Meta Mutation Damage Score 0.0661 question?
Coding Region Coverage
  • 1x: 80.7%
  • 3x: 72.7%
  • 10x: 50.3%
  • 20x: 30.1%
Validation Efficiency 96% (74/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,596,698 (GRCm39) F384L probably benign Het
AC159748.1 T C 10: 5,542,006 (GRCm38) silent Het
Adamts12 C T 15: 11,215,710 (GRCm39) R244C probably damaging Het
Bms1 T C 6: 118,393,480 (GRCm39) I131V probably benign Het
Ccdc107 A G 4: 43,495,549 (GRCm39) T151A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col4a4 A G 1: 82,465,231 (GRCm39) probably null Het
Creb1 A G 1: 64,609,307 (GRCm39) D126G probably damaging Het
Ddb1 T A 19: 10,596,610 (GRCm39) V443E probably damaging Het
Dnmt3a T A 12: 3,950,337 (GRCm39) S634T probably damaging Het
Fras1 A C 5: 96,825,175 (GRCm39) N1455T probably benign Het
Fyb1 A G 15: 6,674,395 (GRCm39) probably benign Het
Gpr141 C T 13: 19,936,599 (GRCm39) V59M probably damaging Het
Ikbke T C 1: 131,199,921 (GRCm39) I222V possibly damaging Het
Macf1 A T 4: 123,275,895 (GRCm39) H6222Q probably damaging Het
Mapk8ip3 C T 17: 25,123,871 (GRCm39) probably benign Het
Phactr1 A T 13: 43,210,655 (GRCm39) D74V probably damaging Het
Prickle2 T C 6: 92,399,323 (GRCm39) I185V probably benign Het
Rnasel A T 1: 153,630,465 (GRCm39) D327V probably benign Het
Slc25a13 T C 6: 6,181,047 (GRCm39) N46D probably benign Het
Slc28a2 T A 2: 122,282,083 (GRCm39) F261L probably damaging Het
Slc6a15 A T 10: 103,252,541 (GRCm39) Y568F probably benign Het
Slc7a1 A G 5: 148,272,321 (GRCm39) V452A probably benign Het
Tectb T C 19: 55,183,109 (GRCm39) I330T probably benign Het
Tmem92 C T 11: 94,669,778 (GRCm39) V118I possibly damaging Het
Tmf1 T C 6: 97,135,059 (GRCm39) E985G probably damaging Het
Traf5 T A 1: 191,758,421 (GRCm39) probably benign Het
Trip11 T C 12: 101,851,016 (GRCm39) E731G probably damaging Het
Wrnip1 T C 13: 33,004,280 (GRCm39) L517P probably damaging Het
Zfp202 T A 9: 40,123,048 (GRCm39) H603Q probably damaging Het
Other mutations in Unc5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Unc5a APN 13 55,143,633 (GRCm39) missense probably benign 0.00
IGL00339:Unc5a APN 13 55,143,628 (GRCm39) missense possibly damaging 0.89
IGL00924:Unc5a APN 13 55,152,327 (GRCm39) missense probably damaging 0.99
IGL01411:Unc5a APN 13 55,150,741 (GRCm39) missense probably damaging 1.00
IGL01511:Unc5a APN 13 55,152,629 (GRCm39) missense probably damaging 0.97
IGL02430:Unc5a APN 13 55,150,295 (GRCm39) missense probably damaging 1.00
IGL02996:Unc5a APN 13 55,143,991 (GRCm39) missense probably damaging 0.99
IGL03188:Unc5a APN 13 55,147,316 (GRCm39) missense probably damaging 0.98
PIT1430001:Unc5a UTSW 13 55,151,709 (GRCm39) missense probably damaging 1.00
PIT4378001:Unc5a UTSW 13 55,143,681 (GRCm39) missense possibly damaging 0.95
R0009:Unc5a UTSW 13 55,150,692 (GRCm39) missense probably damaging 1.00
R0009:Unc5a UTSW 13 55,150,692 (GRCm39) missense probably damaging 1.00
R0505:Unc5a UTSW 13 55,152,767 (GRCm39) missense probably damaging 1.00
R0744:Unc5a UTSW 13 55,151,746 (GRCm39) missense possibly damaging 0.92
R0745:Unc5a UTSW 13 55,153,068 (GRCm39) frame shift probably null
R0836:Unc5a UTSW 13 55,151,746 (GRCm39) missense possibly damaging 0.92
R1018:Unc5a UTSW 13 55,138,765 (GRCm39) missense possibly damaging 0.81
R1432:Unc5a UTSW 13 55,152,285 (GRCm39) unclassified probably benign
R1469:Unc5a UTSW 13 55,144,232 (GRCm39) missense probably damaging 1.00
R1469:Unc5a UTSW 13 55,144,232 (GRCm39) missense probably damaging 1.00
R1691:Unc5a UTSW 13 55,150,737 (GRCm39) missense probably damaging 1.00
R2132:Unc5a UTSW 13 55,138,896 (GRCm39) missense probably damaging 0.96
R4020:Unc5a UTSW 13 55,151,182 (GRCm39) missense probably damaging 1.00
R4080:Unc5a UTSW 13 55,152,294 (GRCm39) missense possibly damaging 0.62
R4720:Unc5a UTSW 13 55,151,696 (GRCm39) missense probably null 1.00
R4876:Unc5a UTSW 13 55,145,042 (GRCm39) missense probably benign
R4953:Unc5a UTSW 13 55,147,683 (GRCm39) missense probably benign 0.02
R5112:Unc5a UTSW 13 55,151,231 (GRCm39) critical splice donor site probably null
R5593:Unc5a UTSW 13 55,152,747 (GRCm39) missense possibly damaging 0.91
R5903:Unc5a UTSW 13 55,147,503 (GRCm39) missense possibly damaging 0.92
R6521:Unc5a UTSW 13 55,152,748 (GRCm39) missense probably benign 0.01
R6723:Unc5a UTSW 13 55,143,702 (GRCm39) missense probably benign 0.23
R7038:Unc5a UTSW 13 55,152,297 (GRCm39) missense probably damaging 1.00
R7065:Unc5a UTSW 13 55,138,896 (GRCm39) missense probably damaging 1.00
R7241:Unc5a UTSW 13 55,138,833 (GRCm39) missense probably damaging 1.00
R7365:Unc5a UTSW 13 55,144,386 (GRCm39) missense possibly damaging 0.80
R7487:Unc5a UTSW 13 55,144,362 (GRCm39) missense probably benign 0.40
R7980:Unc5a UTSW 13 55,147,319 (GRCm39) missense possibly damaging 0.57
R8032:Unc5a UTSW 13 55,144,299 (GRCm39) missense possibly damaging 0.65
R8087:Unc5a UTSW 13 55,143,985 (GRCm39) missense probably damaging 1.00
R8910:Unc5a UTSW 13 55,151,401 (GRCm39) missense possibly damaging 0.66
R9126:Unc5a UTSW 13 55,145,774 (GRCm39) missense possibly damaging 0.80
R9492:Unc5a UTSW 13 55,150,288 (GRCm39) missense probably damaging 1.00
Posted On 2013-03-25