Incidental Mutation 'IGL02996:Unc5a'
ID 407149
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02996
Quality Score
Status
Chromosome 13
Chromosomal Location 55097224-55153831 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55143991 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8K1S4
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: 127,002,872 (GRCm39) R130W probably damaging Het
Cd200r3 T C 16: 44,774,680 (GRCm39) L231P probably damaging Het
Cd200r4 C A 16: 44,653,396 (GRCm39) N55K probably benign Het
Cyb561d1 C T 3: 108,106,961 (GRCm39) R86Q probably damaging Het
Dst T C 1: 34,227,479 (GRCm39) S1869P possibly damaging Het
Dusp6 T C 10: 99,100,628 (GRCm39) V208A possibly damaging Het
Dync2h1 A T 9: 6,935,279 (GRCm39) V4248E probably damaging Het
Exoc6b T A 6: 84,885,195 (GRCm39) D248V probably benign Het
Fat4 A C 3: 39,012,674 (GRCm39) D2323A probably damaging Het
Fbxo6 T C 4: 148,231,348 (GRCm39) Y144C probably damaging Het
Gm7334 C A 17: 51,006,084 (GRCm39) N123K possibly damaging Het
Large2 T C 2: 92,196,273 (GRCm39) H518R possibly damaging Het
Marchf4 G A 1: 72,468,058 (GRCm39) Q325* probably null Het
Mccc2 C A 13: 100,097,487 (GRCm39) probably benign Het
Mical3 T C 6: 120,935,519 (GRCm39) D1669G probably damaging Het
Mkrn2 T C 6: 115,588,868 (GRCm39) F204L probably benign Het
Or1p1 T C 11: 74,179,991 (GRCm39) V173A probably benign Het
Or8g26 A G 9: 39,096,361 (GRCm39) R293G probably damaging Het
Pkn3 A G 2: 29,970,627 (GRCm39) D148G probably benign Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Rwdd1 G T 10: 33,878,512 (GRCm39) Q108K probably damaging Het
Senp3 T C 11: 69,565,086 (GRCm39) E496G probably damaging Het
St6gal1 T A 16: 23,139,904 (GRCm39) V25E probably damaging Het
Syt4 T C 18: 31,577,199 (GRCm39) K52E probably damaging Het
Tap1 C A 17: 34,410,370 (GRCm39) A349E probably damaging Het
Tfr2 T A 5: 137,581,728 (GRCm39) M605K probably benign Het
Tmem192 A G 8: 65,421,442 (GRCm39) probably null Het
Trf T C 9: 103,098,102 (GRCm39) E52G probably benign Het
Ttn A G 2: 76,556,531 (GRCm39) V30158A probably damaging Het
Vmn2r57 T A 7: 41,049,165 (GRCm39) K861N probably benign 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
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
R0028:Unc5a UTSW 13 55,151,726 (GRCm39) missense possibly damaging 0.70
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 2016-08-02