Incidental Mutation 'R0745:Unc5a'
ID 474137
Institutional Source Beutler Lab
Gene Symbol Unc5a
Ensembl Gene ENSMUSG00000025876
Gene Name unc-5 netrin receptor A
Synonyms Unc5h1
MMRRC Submission 038926-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0745 (G1)
Quality Score 107
Status Not validated
Chromosome 13
Chromosomal Location 55097224-55153831 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CTGTGTGTGTGTGTGT to CTGTGTGTGTGTGT at 55153068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026994] [ENSMUST00000052949] [ENSMUST00000109994] [ENSMUST00000123097] [ENSMUST00000126234] [ENSMUST00000132309] [ENSMUST00000137967] [ENSMUST00000153665]
AlphaFold Q8K1S4
Predicted Effect probably benign
Transcript: ENSMUST00000026994
SMART Domains Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876

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 probably benign
Transcript: ENSMUST00000109994
SMART Domains Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876

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 probably null
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
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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 100% (40/40)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A T 2: 150,675,068 (GRCm39) probably null Het
Adam17 A G 12: 21,382,222 (GRCm39) probably benign Het
Aldh1l2 T A 10: 83,354,494 (GRCm39) probably null Het
Bltp1 A G 3: 36,982,612 (GRCm39) Y759C probably damaging Het
Brca2 A T 5: 150,468,347 (GRCm39) probably benign Het
Capn13 A C 17: 73,658,503 (GRCm39) D188E probably benign Het
Col14a1 A T 15: 55,201,813 (GRCm39) T34S unknown Het
Col5a2 A G 1: 45,446,387 (GRCm39) probably null Het
Cyp4v3 A G 8: 45,761,688 (GRCm39) probably benign Het
Dlat G A 9: 50,565,008 (GRCm39) T233M probably damaging Het
Eef2 C T 10: 81,017,830 (GRCm39) P831S probably benign Het
Endod1 A T 9: 14,268,413 (GRCm39) N357K possibly damaging Het
Evc A T 5: 37,476,403 (GRCm39) V205E probably damaging Het
Fryl A G 5: 73,228,469 (GRCm39) L1754P probably damaging Het
Gabra6 A T 11: 42,207,394 (GRCm39) M230K probably damaging Het
Hsd3b5 A G 3: 98,526,855 (GRCm39) V197A probably benign Het
Kmt2c A T 5: 25,564,696 (GRCm39) probably null Het
Mthfsd A T 8: 121,829,688 (GRCm39) L116Q probably damaging Het
Mug1 A G 6: 121,864,386 (GRCm39) T1428A probably benign Het
Obscn A G 11: 58,973,065 (GRCm39) V2312A probably benign Het
Or1i2 T C 10: 78,447,956 (GRCm39) E173G probably benign Het
Palld G A 8: 62,330,737 (GRCm39) R47C probably damaging Het
Pds5b A G 5: 150,729,136 (GRCm39) T1424A probably benign Het
Ppp6r2 G A 15: 89,149,445 (GRCm39) probably null Het
Sik3 A G 9: 46,109,537 (GRCm39) N505S probably benign Het
Spin1 A G 13: 51,293,551 (GRCm39) Y87C probably damaging Het
Tcp11 T C 17: 28,286,134 (GRCm39) I494V possibly damaging Het
Tgfa G A 6: 86,248,417 (GRCm39) E140K probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trmo A G 4: 46,382,104 (GRCm39) F338L probably damaging Het
Tspan17 T C 13: 54,937,487 (GRCm39) V27A possibly damaging Het
Tut4 C G 4: 108,360,152 (GRCm39) probably benign Het
Uba5 A G 9: 103,926,710 (GRCm39) probably benign Het
Zbbx C T 3: 75,062,734 (GRCm39) V8I probably damaging Het
Zfp451 A T 1: 33,809,929 (GRCm39) L931* probably null Het
Zmym4 A T 4: 126,796,496 (GRCm39) 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
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
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
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
Predicted Primers
Posted On 2017-04-14