Incidental Mutation 'R0179:Unc5c'
ID 23022
Institutional Source Beutler Lab
Gene Symbol Unc5c
Ensembl Gene ENSMUSG00000059921
Gene Name unc-5 netrin receptor C
Synonyms B130051O18Rik, Unc5h3
MMRRC Submission 038447-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0179 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 3
Chromosomal Location 141171360-141540685 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 141523828 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 794 (R794*)
Ref Sequence ENSEMBL: ENSMUSP00000118212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075282] [ENSMUST00000106236] [ENSMUST00000130636] [ENSMUST00000142762]
AlphaFold O08747
Predicted Effect probably null
Transcript: ENSMUST00000075282
AA Change: R794*
SMART Domains Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: R794*

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
SCOP:d2fcba2 64 164 9e-3 SMART
IGc2 179 246 2.72e-5 SMART
TSP1 263 314 8.54e-13 SMART
TSP1 319 368 1.18e-6 SMART
transmembrane domain 396 418 N/A INTRINSIC
ZU5 547 650 6.92e-63 SMART
low complexity region 695 704 N/A INTRINSIC
DEATH 857 948 6.68e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106236
AA Change: R775*
SMART Domains Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: R775*

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
SCOP:d2fcba2 64 164 9e-3 SMART
IGc2 179 246 2.72e-5 SMART
TSP1 263 314 8.54e-13 SMART
TSP1 319 368 1.18e-6 SMART
transmembrane domain 377 399 N/A INTRINSIC
ZU5 528 631 6.92e-63 SMART
low complexity region 676 685 N/A INTRINSIC
DEATH 838 929 6.68e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000130636
AA Change: R720*
SMART Domains Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: R720*

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
IGc2 105 172 2.72e-5 SMART
TSP1 189 240 8.54e-13 SMART
TSP1 245 294 1.18e-6 SMART
transmembrane domain 322 344 N/A INTRINSIC
ZU5 473 576 6.92e-63 SMART
low complexity region 621 630 N/A INTRINSIC
DEATH 783 874 6.68e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000142762
AA Change: R794*
SMART Domains Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: R794*

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
SCOP:d2fcba2 64 164 9e-3 SMART
IGc2 179 246 2.72e-5 SMART
TSP1 263 314 8.54e-13 SMART
TSP1 319 368 1.18e-6 SMART
transmembrane domain 396 418 N/A INTRINSIC
ZU5 547 650 6.92e-63 SMART
low complexity region 695 704 N/A INTRINSIC
DEATH 857 948 6.68e-24 SMART
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 98% (81/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants exhibit ataxia, and reduced size early in life. Mutants exhibit cerebellar defects including reduced size and ectopic cerebellar cells in the midbrain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 C T 16: 85,592,353 (GRCm39) S948N probably benign Het
Adck1 A T 12: 88,425,942 (GRCm39) M457L possibly damaging Het
Adprm A T 11: 66,929,051 (GRCm39) H313Q possibly damaging Het
Adss1 T C 12: 112,598,703 (GRCm39) I104T probably benign Het
Agxt2 A C 15: 10,399,134 (GRCm39) Q435P possibly damaging Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Ankrd50 A G 3: 38,509,463 (GRCm39) V968A possibly damaging Het
Brf2 T C 8: 27,615,896 (GRCm39) D163G possibly damaging Het
Cd226 C A 18: 89,225,263 (GRCm39) N53K probably benign Het
Cdc42ep2 T C 19: 5,968,636 (GRCm39) D23G probably benign Het
Cdc7 T C 5: 107,112,905 (GRCm39) S8P probably benign Het
Cdh8 C T 8: 99,838,344 (GRCm39) E499K possibly damaging Het
Chd7 T A 4: 8,862,516 (GRCm39) F2534L probably benign Het
Ckb T C 12: 111,636,610 (GRCm39) T255A probably benign Het
Cntnap5c G T 17: 58,076,620 (GRCm39) W19L probably benign Het
Cntrl A G 2: 35,057,871 (GRCm39) E1854G probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cop1 A G 1: 159,077,636 (GRCm39) D157G probably benign Het
Csf2rb A C 15: 78,220,572 (GRCm39) Q38P possibly damaging Het
Ctla2b T C 13: 61,044,107 (GRCm39) D52G possibly damaging Het
Dcaf7 A T 11: 105,942,623 (GRCm39) D190V probably damaging Het
Depdc5 T A 5: 33,058,918 (GRCm39) probably benign Het
Dgkq A G 5: 108,806,066 (GRCm39) probably benign Het
Dhrs2 A G 14: 55,477,933 (GRCm39) T222A probably damaging Het
Dock1 G A 7: 134,700,566 (GRCm39) D1109N probably damaging Het
E4f1 G C 17: 24,670,411 (GRCm39) T92S possibly damaging Het
Ep400 A T 5: 110,816,515 (GRCm39) S2669T probably damaging Het
Eprs1 T G 1: 185,145,744 (GRCm39) D1184E probably benign Het
Fpr-rs4 A T 17: 18,242,289 (GRCm39) K99* probably null Het
Fzr1 A T 10: 81,204,904 (GRCm39) probably benign Het
Gcc2 C T 10: 58,112,472 (GRCm39) R1001C probably benign Het
Gm4884 A G 7: 40,693,252 (GRCm39) D407G probably benign Het
Golga4 A T 9: 118,389,808 (GRCm39) probably null Het
Gp2 T G 7: 119,051,540 (GRCm39) D225A possibly damaging Het
Gramd1a T A 7: 30,841,843 (GRCm39) T120S probably damaging Het
Hbb-bh2 T A 7: 103,488,434 (GRCm39) N121I probably benign Het
Htr6 A T 4: 138,789,437 (GRCm39) L276Q probably damaging Het
Itga9 A T 9: 118,490,454 (GRCm39) I262F probably benign Het
Lamc3 A G 2: 31,805,096 (GRCm39) probably benign Het
Large1 T C 8: 73,825,474 (GRCm39) N200S probably benign Het
Lct C T 1: 128,255,422 (GRCm39) V207I probably benign Het
Marf1 C A 16: 13,969,040 (GRCm39) L144F probably damaging Het
Morc2b A T 17: 33,355,956 (GRCm39) Y605* probably null Het
Mtus1 G T 8: 41,455,398 (GRCm39) L87I possibly damaging Het
Muc2 A G 7: 141,302,708 (GRCm39) Y17C probably damaging Het
Myf5 T C 10: 107,321,779 (GRCm39) D5G possibly damaging Het
Nasp C T 4: 116,459,354 (GRCm39) V375M probably damaging Het
Nr1h2 A T 7: 44,201,689 (GRCm39) probably null Het
Nrg2 T C 18: 36,155,468 (GRCm39) Q447R probably benign Het
Ntn5 G A 7: 45,335,737 (GRCm39) G56D probably damaging Het
Oasl2 A G 5: 115,048,973 (GRCm39) R138G probably benign Het
Or4c29 A T 2: 88,740,237 (GRCm39) C167S possibly damaging Het
Or5b124 T A 19: 13,610,504 (GRCm39) F10I probably damaging Het
Or9k7 T C 10: 130,046,207 (GRCm39) Y264C probably damaging Het
Pcdhb5 G A 18: 37,455,612 (GRCm39) G664D probably damaging Het
Ppp1r15a T C 7: 45,174,424 (GRCm39) E128G probably damaging Het
Prpf19 T C 19: 10,875,172 (GRCm39) probably benign Het
Ptpn3 T A 4: 57,270,118 (GRCm39) T15S probably benign Het
R3hdm2 G A 10: 127,330,975 (GRCm39) C818Y probably damaging Het
Rad51d A G 11: 82,780,824 (GRCm39) V39A possibly damaging Het
Rptor A T 11: 119,763,193 (GRCm39) T926S probably benign Het
Rwdd4a G A 8: 47,995,742 (GRCm39) D41N probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Spata31g1 T C 4: 42,972,214 (GRCm39) S516P probably benign Het
Ssbp3 T C 4: 106,903,585 (GRCm39) S334P probably damaging Het
Suco A G 1: 161,703,874 (GRCm39) probably benign Het
Synj1 T C 16: 90,761,519 (GRCm39) K649R possibly damaging Het
Tdp2 C T 13: 25,024,431 (GRCm39) H243Y possibly damaging Het
Tinag A G 9: 76,904,164 (GRCm39) probably benign Het
Trerf1 T C 17: 47,627,588 (GRCm39) noncoding transcript Het
Trip10 T C 17: 57,569,349 (GRCm39) probably benign Het
Tsen54 A T 11: 115,712,856 (GRCm39) S131C probably damaging Het
Vmn2r59 A T 7: 41,696,432 (GRCm39) Y103* probably null Het
Washc5 A G 15: 59,224,379 (GRCm39) V460A probably benign Het
Wdr87-ps A G 7: 29,235,365 (GRCm39) noncoding transcript Het
Whamm A G 7: 81,243,763 (GRCm39) T358A probably benign Het
Xlr4b C T X: 72,262,277 (GRCm39) probably benign Het
Zbbx C T 3: 74,992,869 (GRCm39) probably benign Het
Zdhhc23 G A 16: 43,794,066 (GRCm39) P203S probably benign Het
Zfp27 T A 7: 29,595,850 (GRCm39) E38D possibly damaging Het
Other mutations in Unc5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00232:Unc5c APN 3 141,494,701 (GRCm39) missense probably damaging 0.99
IGL01089:Unc5c APN 3 141,523,963 (GRCm39) splice site probably benign
IGL01478:Unc5c APN 3 141,534,212 (GRCm39) missense probably damaging 1.00
IGL02083:Unc5c APN 3 141,420,408 (GRCm39) missense probably damaging 0.99
IGL02269:Unc5c APN 3 141,494,743 (GRCm39) missense probably damaging 1.00
IGL02565:Unc5c APN 3 141,509,680 (GRCm39) missense probably damaging 1.00
IGL02973:Unc5c APN 3 141,494,651 (GRCm39) missense probably benign 0.12
R0309:Unc5c UTSW 3 141,439,694 (GRCm39) missense probably benign 0.01
R0371:Unc5c UTSW 3 141,533,283 (GRCm39) missense probably benign 0.01
R0603:Unc5c UTSW 3 141,476,863 (GRCm39) missense probably damaging 1.00
R0904:Unc5c UTSW 3 141,509,601 (GRCm39) missense probably benign 0.08
R0907:Unc5c UTSW 3 141,494,794 (GRCm39) missense probably damaging 0.99
R1300:Unc5c UTSW 3 141,534,304 (GRCm39) missense possibly damaging 0.94
R1491:Unc5c UTSW 3 141,495,583 (GRCm39) missense probably damaging 1.00
R1494:Unc5c UTSW 3 141,533,310 (GRCm39) missense possibly damaging 0.93
R1674:Unc5c UTSW 3 141,463,598 (GRCm39) missense possibly damaging 0.74
R1676:Unc5c UTSW 3 141,463,598 (GRCm39) missense possibly damaging 0.74
R1726:Unc5c UTSW 3 141,523,864 (GRCm39) missense probably damaging 1.00
R1750:Unc5c UTSW 3 141,533,278 (GRCm39) missense possibly damaging 0.89
R1815:Unc5c UTSW 3 141,463,518 (GRCm39) missense probably damaging 1.00
R2381:Unc5c UTSW 3 141,383,916 (GRCm39) missense probably damaging 1.00
R2394:Unc5c UTSW 3 141,383,892 (GRCm39) missense probably damaging 1.00
R2945:Unc5c UTSW 3 141,495,735 (GRCm39) missense probably damaging 0.97
R4284:Unc5c UTSW 3 141,420,435 (GRCm39) missense probably damaging 1.00
R4285:Unc5c UTSW 3 141,420,435 (GRCm39) missense probably damaging 1.00
R4287:Unc5c UTSW 3 141,420,435 (GRCm39) missense probably damaging 1.00
R4681:Unc5c UTSW 3 141,474,374 (GRCm39) critical splice donor site probably null
R4736:Unc5c UTSW 3 141,522,692 (GRCm39) missense probably benign 0.00
R4740:Unc5c UTSW 3 141,522,692 (GRCm39) missense probably benign 0.00
R4774:Unc5c UTSW 3 141,534,278 (GRCm39) missense probably damaging 1.00
R4862:Unc5c UTSW 3 141,495,534 (GRCm39) missense probably damaging 1.00
R4905:Unc5c UTSW 3 141,507,071 (GRCm39) missense probably benign 0.19
R4921:Unc5c UTSW 3 141,494,727 (GRCm39) missense probably damaging 1.00
R5150:Unc5c UTSW 3 141,463,554 (GRCm39) missense probably damaging 1.00
R5559:Unc5c UTSW 3 141,509,548 (GRCm39) missense probably damaging 1.00
R5562:Unc5c UTSW 3 141,474,291 (GRCm39) missense probably damaging 1.00
R5643:Unc5c UTSW 3 141,383,886 (GRCm39) missense probably damaging 1.00
R5644:Unc5c UTSW 3 141,383,886 (GRCm39) missense probably damaging 1.00
R5775:Unc5c UTSW 3 141,534,281 (GRCm39) missense probably damaging 1.00
R5912:Unc5c UTSW 3 141,494,767 (GRCm39) missense probably damaging 1.00
R6154:Unc5c UTSW 3 141,383,914 (GRCm39) missense probably damaging 0.97
R6547:Unc5c UTSW 3 141,495,780 (GRCm39) missense probably benign 0.16
R6558:Unc5c UTSW 3 141,495,490 (GRCm39) missense probably damaging 0.98
R7104:Unc5c UTSW 3 141,439,665 (GRCm39) missense probably damaging 1.00
R7113:Unc5c UTSW 3 141,507,054 (GRCm39) missense probably benign 0.00
R7282:Unc5c UTSW 3 141,383,751 (GRCm39) missense probably damaging 0.98
R7317:Unc5c UTSW 3 141,495,703 (GRCm39) missense probably benign 0.00
R7787:Unc5c UTSW 3 141,474,313 (GRCm39) missense probably damaging 1.00
R7873:Unc5c UTSW 3 141,533,310 (GRCm39) missense probably benign 0.04
R7896:Unc5c UTSW 3 141,476,922 (GRCm39) missense possibly damaging 0.73
R7936:Unc5c UTSW 3 141,534,238 (GRCm39) missense possibly damaging 0.48
R8041:Unc5c UTSW 3 141,171,545 (GRCm39) missense possibly damaging 0.92
R8277:Unc5c UTSW 3 141,474,373 (GRCm39) critical splice donor site probably null
R8669:Unc5c UTSW 3 141,509,704 (GRCm39) missense possibly damaging 0.91
R8886:Unc5c UTSW 3 141,509,581 (GRCm39) missense probably benign 0.02
R8989:Unc5c UTSW 3 141,509,467 (GRCm39) splice site probably benign
R9244:Unc5c UTSW 3 141,533,370 (GRCm39) missense probably benign 0.00
R9444:Unc5c UTSW 3 141,507,209 (GRCm39) critical splice donor site probably null
R9508:Unc5c UTSW 3 141,494,736 (GRCm39) missense possibly damaging 0.75
R9524:Unc5c UTSW 3 141,494,683 (GRCm39) missense possibly damaging 0.56
R9633:Unc5c UTSW 3 141,495,654 (GRCm39) missense probably damaging 0.99
X0018:Unc5c UTSW 3 141,420,500 (GRCm39) missense probably damaging 1.00
X0065:Unc5c UTSW 3 141,533,422 (GRCm39) missense probably damaging 1.00
Z1088:Unc5c UTSW 3 141,439,661 (GRCm39) missense probably damaging 1.00
Z1176:Unc5c UTSW 3 141,383,771 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAGAGATGAGGCCATGTTTGTGC -3'
(R):5'- TGACAAAATGACAGAAGTCCCTGTGAG -3'

Sequencing Primer
(F):5'- TTGTGCAGAAAGCAGTCATGAAG -3'
(R):5'- ggagtgttggggattacgag -3'
Posted On 2013-04-16