Incidental Mutation 'IGL02996:Unc5a'
ID407149
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 #IGL02996
Quality Score
Status
Chromosome13
Chromosomal Location54949411-55006018 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54996178 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 152 (E152G)
Ref Sequence ENSEMBL: ENSMUSP00000105621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026994] [ENSMUST00000109994] [ENSMUST00000136852]
Predicted Effect probably damaging
Transcript: ENSMUST00000026994
AA Change: E152G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876
AA Change: E152G

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 damaging
Transcript: ENSMUST00000109994
AA Change: E152G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876
AA Change: E152G

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: ENSMUST00000136852
SMART Domains Protein: ENSMUSP00000116585
Gene: ENSMUSG00000025876

DomainStartEndE-ValueType
low complexity region 1 14 N/A INTRINSIC
TSP1 20 70 1.23e-1 SMART
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
B4galnt1 C T 10: 127,167,003 R130W probably damaging Het
Cd200r3 T C 16: 44,954,317 L231P probably damaging Het
Cd200r4 C A 16: 44,833,033 N55K probably benign Het
Cyb561d1 C T 3: 108,199,645 R86Q probably damaging Het
Dst T C 1: 34,188,398 S1869P possibly damaging Het
Dusp6 T C 10: 99,264,766 V208A possibly damaging Het
Dync2h1 A T 9: 6,935,279 V4248E probably damaging Het
Exoc6b T A 6: 84,908,213 D248V probably benign Het
Fat4 A C 3: 38,958,525 D2323A probably damaging Het
Fbxo6 T C 4: 148,146,891 Y144C probably damaging Het
Gm7334 C A 17: 50,699,056 N123K possibly damaging Het
Large2 T C 2: 92,365,928 H518R possibly damaging Het
March4 G A 1: 72,428,899 Q325* probably null Het
Mccc2 C A 13: 99,960,979 probably benign Het
Mical3 T C 6: 120,958,558 D1669G probably damaging Het
Mkrn2 T C 6: 115,611,907 F204L probably benign Het
Olfr59 T C 11: 74,289,165 V173A probably benign Het
Olfr943 A G 9: 39,185,065 R293G probably damaging Het
Pkn3 A G 2: 30,080,615 D148G probably benign Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Rwdd1 G T 10: 34,002,516 Q108K probably damaging Het
Senp3 T C 11: 69,674,260 E496G probably damaging Het
St6gal1 T A 16: 23,321,154 V25E probably damaging Het
Syt4 T C 18: 31,444,146 K52E probably damaging Het
Tap1 C A 17: 34,191,396 A349E probably damaging Het
Tfr2 T A 5: 137,583,466 M605K probably benign Het
Tmem192 A G 8: 64,968,790 probably null Het
Trf T C 9: 103,220,903 E52G probably benign Het
Ttn A G 2: 76,726,187 V30158A probably damaging Het
Vmn2r57 T A 7: 41,399,741 K861N 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
IGL03188:Unc5a APN 13 54999503 missense probably damaging 0.98
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