Incidental Mutation 'IGL03188:Unc5a'
ID412538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Unc5a
Ensembl Gene ENSMUSG00000025876
Gene Nameunc-5 netrin receptor A
SynonymsUnc5h1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03188
Quality Score
Status
Chromosome13
Chromosomal Location54949411-55006018 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54999503 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 106 (S106G)
Ref Sequence ENSEMBL: ENSMUSP00000116585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026994] [ENSMUST00000109994] [ENSMUST00000136852] [ENSMUST00000137967]
Predicted Effect probably benign
Transcript: ENSMUST00000026994
AA Change: S408G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876
AA Change: S408G

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: ENSMUST00000109994
AA Change: S352G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876
AA Change: S352G

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 damaging
Transcript: ENSMUST00000136852
AA Change: S106G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116585
Gene: ENSMUSG00000025876
AA Change: S106G

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
TSP1 20 70 1.23e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137967
SMART Domains Protein: ENSMUSP00000115531
Gene: ENSMUSG00000025876

DomainStartEndE-ValueType
PDB:3G5B|A 1 118 6e-36 PDB
Blast:DEATH 80 119 9e-22 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142906
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,971,225 Y186C possibly damaging Het
Adamts18 C A 8: 113,699,024 C1202F probably damaging Het
Ago2 C T 15: 73,123,333 V466I probably benign Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Aptx A T 4: 40,695,143 probably null Het
Aurka A T 2: 172,363,768 D123E possibly damaging Het
AW549877 A G 15: 3,988,705 Y163H probably damaging Het
Btaf1 T C 19: 36,949,108 I60T possibly damaging Het
Ccdc154 A T 17: 25,164,093 probably null Het
Cct5 T C 15: 31,598,002 N55S probably benign Het
Cntnap3 A G 13: 64,781,745 S547P probably damaging Het
Efl1 T A 7: 82,671,701 I114N probably damaging Het
Gprin1 T C 13: 54,738,652 D603G probably benign Het
Il16 A G 7: 83,688,163 S115P probably benign Het
Kalrn C A 16: 34,314,192 V401L probably benign Het
Kcnq4 T A 4: 120,704,426 K482I possibly damaging Het
L3mbtl3 C T 10: 26,342,617 A114T unknown Het
Lig1 G A 7: 13,311,107 probably benign Het
Lnx1 G A 5: 74,620,263 T199M probably damaging Het
Mapk13 A G 17: 28,776,583 probably benign Het
Mfsd2b A T 12: 4,866,538 probably null Het
Mrpl3 A G 9: 105,057,065 D137G probably benign Het
Muc15 A G 2: 110,731,699 D160G probably benign Het
Myh4 T C 11: 67,246,543 probably null Het
Nipa2 T G 7: 55,932,932 N355T probably benign Het
Olfr1396 T C 11: 49,113,709 N6D probably damaging Het
Olfr484 T C 7: 108,124,634 T210A probably benign Het
Olfr644 A G 7: 104,068,738 S98P possibly damaging Het
Olfr749 A T 14: 50,736,858 Y101* probably null Het
Pfkm G T 15: 98,123,243 probably null Het
Ppip5k1 A G 2: 121,326,846 probably benign Het
Ppp1r18 A G 17: 35,867,965 D244G possibly damaging Het
Scn2a T C 2: 65,671,653 S107P probably damaging Het
Scn5a A T 9: 119,522,566 I783N probably damaging Het
Snx1 A G 9: 66,094,452 W307R probably damaging Het
Stk11ip G A 1: 75,534,435 V928M probably benign Het
Tgm4 A G 9: 123,045,036 M114V probably null Het
Trpm2 G A 10: 77,918,909 R1248C probably benign Het
Txnrd1 T C 10: 82,885,046 I347T possibly damaging Het
Vmn2r85 T C 10: 130,418,743 M691V probably benign Het
Zfp58 T A 13: 67,491,409 Q321L probably benign Het
Other mutations in Unc5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Unc5a APN 13 54995820 missense probably benign 0.00
IGL00339:Unc5a APN 13 54995815 missense possibly damaging 0.89
IGL00924:Unc5a APN 13 55004514 missense probably damaging 0.99
IGL01411:Unc5a APN 13 55002928 missense probably damaging 1.00
IGL01511:Unc5a APN 13 55004816 missense probably damaging 0.97
IGL02430:Unc5a APN 13 55002482 missense probably damaging 1.00
IGL02996:Unc5a APN 13 54996178 missense probably damaging 0.99
PIT1430001:Unc5a UTSW 13 55003896 missense probably damaging 1.00
PIT4378001:Unc5a UTSW 13 54995868 missense possibly damaging 0.95
R0009:Unc5a UTSW 13 55002879 missense probably damaging 1.00
R0009:Unc5a UTSW 13 55002879 missense probably damaging 1.00
R0028:Unc5a UTSW 13 55003913 missense possibly damaging 0.70
R0505:Unc5a UTSW 13 55004954 missense probably damaging 1.00
R0744:Unc5a UTSW 13 55003933 missense possibly damaging 0.92
R0745:Unc5a UTSW 13 55005255 frame shift probably null
R0836:Unc5a UTSW 13 55003933 missense possibly damaging 0.92
R1018:Unc5a UTSW 13 54990952 missense possibly damaging 0.81
R1432:Unc5a UTSW 13 55004472 unclassified probably benign
R1469:Unc5a UTSW 13 54996419 missense probably damaging 1.00
R1469:Unc5a UTSW 13 54996419 missense probably damaging 1.00
R1691:Unc5a UTSW 13 55002924 missense probably damaging 1.00
R2132:Unc5a UTSW 13 54991083 missense probably damaging 0.96
R4020:Unc5a UTSW 13 55003369 missense probably damaging 1.00
R4080:Unc5a UTSW 13 55004481 missense possibly damaging 0.62
R4720:Unc5a UTSW 13 55003883 missense probably null 1.00
R4876:Unc5a UTSW 13 54997229 missense probably benign
R4953:Unc5a UTSW 13 54999870 missense probably benign 0.02
R5112:Unc5a UTSW 13 55003418 critical splice donor site probably null
R5593:Unc5a UTSW 13 55004934 missense possibly damaging 0.91
R5903:Unc5a UTSW 13 54999690 missense possibly damaging 0.92
R6521:Unc5a UTSW 13 55004935 missense probably benign 0.01
R6723:Unc5a UTSW 13 54995889 missense probably benign 0.23
R7038:Unc5a UTSW 13 55004484 missense probably damaging 1.00
R7065:Unc5a UTSW 13 54991083 missense probably damaging 1.00
R7241:Unc5a UTSW 13 54991020 missense probably damaging 1.00
R7365:Unc5a UTSW 13 54996573 missense possibly damaging 0.80
R7487:Unc5a UTSW 13 54996549 missense probably benign 0.40
Posted On2016-08-02