Incidental Mutation 'R1432:Unc5a'
ID 162339
Institutional Source Beutler Lab
Gene Symbol Unc5a
Ensembl Gene ENSMUSG00000025876
Gene Name unc-5 netrin receptor A
Synonyms Unc5h1
MMRRC Submission 039487-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1432 (G1)
Quality Score 182
Status Validated
Chromosome 13
Chromosomal Location 55097224-55153831 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 55152285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026994] [ENSMUST00000052949] [ENSMUST00000109994] [ENSMUST00000123097] [ENSMUST00000126234] [ENSMUST00000132309] [ENSMUST00000137967] [ENSMUST00000153665] [ENSMUST00000136852]
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 noncoding transcript
Transcript: ENSMUST00000142906
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 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
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
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 98% (90/92)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,217,361 (GRCm39) probably null Het
9130401M01Rik A T 15: 57,892,256 (GRCm39) L117Q probably damaging Het
Abcb1b A G 5: 8,887,771 (GRCm39) K886E possibly damaging Het
Acaa2 A T 18: 74,920,198 (GRCm39) I9F probably damaging Het
Acap2 A T 16: 30,929,901 (GRCm39) S386T probably damaging Het
Acsm2 A T 7: 119,172,798 (GRCm39) I138F possibly damaging Het
Agl T C 3: 116,540,342 (GRCm39) Y1424C probably damaging Het
Aoc1l1 T A 6: 48,952,588 (GRCm39) F171Y probably damaging Het
Apc2 T C 10: 80,148,183 (GRCm39) V1079A probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Armc8 C T 9: 99,405,185 (GRCm39) probably benign Het
Catsperb A G 12: 101,588,476 (GRCm39) Y953C probably damaging Het
Cdk13 G A 13: 17,893,001 (GRCm39) A720V probably damaging Het
Chka T C 19: 3,924,809 (GRCm39) probably benign Het
Clcc1 T C 3: 108,575,418 (GRCm39) I165T probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Dip2c C A 13: 9,603,340 (GRCm39) P297Q probably damaging Het
Dnah17 A T 11: 117,914,153 (GRCm39) W4429R probably damaging Het
Dram2 T C 3: 106,478,082 (GRCm39) V138A possibly damaging Het
Dus4l T C 12: 31,698,770 (GRCm39) N78S probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Ebf1 T C 11: 44,895,533 (GRCm39) probably benign Het
Epm2a T A 10: 11,266,587 (GRCm39) Y111N probably damaging Het
Gm773 T C X: 55,247,377 (GRCm39) T52A probably benign Het
Gpam C A 19: 55,067,693 (GRCm39) M483I probably damaging Het
Gpr12 T C 5: 146,520,235 (GRCm39) H229R probably damaging Het
Gpr149 T C 3: 62,438,439 (GRCm39) T573A probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hells T A 19: 38,945,628 (GRCm39) probably null Het
Herc1 T A 9: 66,372,751 (GRCm39) N3102K probably benign Het
Herc3 A T 6: 58,893,827 (GRCm39) T968S possibly damaging Het
Ift88 A G 14: 57,674,736 (GRCm39) Y69C probably benign Het
Incenp G A 19: 9,862,890 (GRCm39) T388M unknown Het
Jrkl A G 9: 13,245,337 (GRCm39) F108S probably benign Het
Khdc1a A G 1: 21,420,542 (GRCm39) E54G possibly damaging Het
Kif6 T A 17: 49,927,728 (GRCm39) F58L probably damaging Het
Klk14 T C 7: 43,344,342 (GRCm39) S218P probably damaging Het
Kmt2e T C 5: 23,655,319 (GRCm39) M19T probably benign Het
Llgl1 G T 11: 60,599,380 (GRCm39) G454C probably damaging Het
Lyrm4 A G 13: 36,276,898 (GRCm39) V33A probably benign Het
Mcam C T 9: 44,052,588 (GRCm39) R606C probably damaging Het
Mgam T A 6: 40,733,301 (GRCm39) M692K probably damaging Het
Mmp28 C T 11: 83,333,765 (GRCm39) R392H probably damaging Het
Mpdz G A 4: 81,210,788 (GRCm39) T1699M probably damaging Het
Mrps11 T C 7: 78,433,310 (GRCm39) probably benign Het
Mrtfb A G 16: 13,218,866 (GRCm39) N504S probably benign Het
Msmo1 A G 8: 65,180,650 (GRCm39) probably benign Het
Mst1 A G 9: 107,961,403 (GRCm39) E571G probably benign Het
Myh14 T C 7: 44,265,723 (GRCm39) E1585G probably damaging Het
Myrfl A G 10: 116,613,332 (GRCm39) C824R probably damaging Het
Ncapd3 C T 9: 26,981,168 (GRCm39) probably benign Het
Nlrp4a G GGTTCTTC 7: 26,163,622 (GRCm39) probably null Het
Nos1 C T 5: 118,087,684 (GRCm39) probably benign Het
Notch3 T C 17: 32,383,198 (GRCm39) S47G probably benign Het
Npsr1 A G 9: 24,221,371 (GRCm39) Y122C probably damaging Het
Or10ak12 T C 4: 118,666,435 (GRCm39) M209V probably benign Het
Or1j11 C T 2: 36,311,655 (GRCm39) L82F probably damaging Het
Or5a1 G T 19: 12,097,603 (GRCm39) R158S possibly damaging Het
Or6c1b C T 10: 129,272,807 (GRCm39) T42I probably damaging Het
Or6k2 T A 1: 173,986,483 (GRCm39) V48E possibly damaging Het
Or8b9 T A 9: 37,766,548 (GRCm39) L145M possibly damaging Het
Otog G T 7: 45,950,007 (GRCm39) V2490F probably damaging Het
Pibf1 T C 14: 99,350,425 (GRCm39) V191A probably benign Het
Pip A G 6: 41,826,852 (GRCm39) M66V probably benign Het
Plxna2 C T 1: 194,449,771 (GRCm39) R830C probably benign Het
Prkca A T 11: 107,830,346 (GRCm39) V248E probably benign Het
Prmt7 T A 8: 106,963,916 (GRCm39) L253* probably null Het
Prrc2a G T 17: 35,372,888 (GRCm39) probably benign Het
Rasgrf1 A G 9: 89,894,853 (GRCm39) D1091G probably benign Het
Rbm7 C A 9: 48,401,245 (GRCm39) G161V probably benign Het
Scn1a A T 2: 66,152,773 (GRCm39) I736N probably damaging Het
Skint6 A G 4: 112,726,721 (GRCm39) probably benign Het
Slc22a2 C T 17: 12,803,195 (GRCm39) H10Y possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stam2 A G 2: 52,604,821 (GRCm39) probably benign Het
Stk40 T C 4: 126,030,626 (GRCm39) L282P probably damaging Het
Tas2r110 A G 6: 132,845,331 (GRCm39) N121D probably damaging Het
Tbc1d32 A G 10: 55,893,758 (GRCm39) Y1272H probably damaging Het
Thoc2l T C 5: 104,665,970 (GRCm39) F164S probably damaging Het
Tmem131l T C 3: 83,836,021 (GRCm39) D696G probably damaging Het
Trdmt1 T C 2: 13,524,657 (GRCm39) Y266C probably damaging Het
Trim5 G T 7: 103,928,726 (GRCm39) H72N probably benign Het
Trim5 A C 7: 103,928,728 (GRCm39) L71R probably benign Het
Twf2 T A 9: 106,092,012 (GRCm39) probably benign Het
Ubap2l T C 3: 89,926,635 (GRCm39) T580A probably benign Het
Ugt1a10 C T 1: 88,143,982 (GRCm39) R201C probably damaging Het
Vmn2r85 T C 10: 130,261,155 (GRCm39) N394S possibly damaging Het
Wrn A T 8: 33,809,169 (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
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
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 PCR Primer
(F):5'- TTCCCCAAAGAGGGACTTTGCAC -3'
(R):5'- TCACTCCAGGCTGCCCTGAAATAC -3'

Sequencing Primer
(F):5'- CACTGAGCTGAGAGCATAGCC -3'
(R):5'- AATACACCACTAGAGGCTGTG -3'
Posted On 2014-03-14