Incidental Mutation 'R7317:Unc5c'
ID 563453
Institutional Source Beutler Lab
Gene Symbol Unc5c
Ensembl Gene ENSMUSG00000059921
Gene Name unc-5 netrin receptor C
Synonyms B130051O18Rik, Unc5h3
MMRRC Submission 045369-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7317 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 141171360-141540685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 141495703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 524 (M524K)
Ref Sequence ENSEMBL: ENSMUSP00000074758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075282] [ENSMUST00000106236] [ENSMUST00000130636] [ENSMUST00000142762]
AlphaFold O08747
Predicted Effect probably benign
Transcript: ENSMUST00000075282
AA Change: M524K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: M524K

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 benign
Transcript: ENSMUST00000106236
AA Change: M505K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: M505K

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 benign
Transcript: ENSMUST00000130636
AA Change: M450K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: M450K

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 benign
Transcript: ENSMUST00000142762
AA Change: M524K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: M524K

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,140,202 (GRCm39) P832L probably benign Het
Adamts17 C T 7: 66,490,304 (GRCm39) R129* probably null Het
Alg5 G T 3: 54,656,752 (GRCm39) R321L probably benign Het
Amotl1 T A 9: 14,486,515 (GRCm39) T460S probably benign Het
Ankrd50 T C 3: 38,537,332 (GRCm39) E7G possibly damaging Het
Ap3b2 T C 7: 81,110,776 (GRCm39) T1000A unknown Het
Arap2 G A 5: 62,807,067 (GRCm39) T1200M probably damaging Het
Asb2 A T 12: 103,299,616 (GRCm39) I272N probably damaging Het
Bicd2 T C 13: 49,531,784 (GRCm39) L342P probably damaging Het
C1qtnf6 T A 15: 78,409,206 (GRCm39) I214F probably damaging Het
Cdc42bpg T A 19: 6,364,534 (GRCm39) H587Q probably benign Het
Cfap70 T A 14: 20,450,502 (GRCm39) I1010F possibly damaging Het
Chd1 A T 17: 15,962,536 (GRCm39) K764N possibly damaging Het
Cluh A G 11: 74,556,530 (GRCm39) D956G possibly damaging Het
Ehbp1l1 T C 19: 5,770,730 (GRCm39) D243G probably benign Het
Ercc4 T C 16: 12,939,977 (GRCm39) V169A probably benign Het
Erich6 T C 3: 58,544,305 (GRCm39) E94G probably benign Het
Fubp3 A G 2: 31,494,624 (GRCm39) probably null Het
Gabbr1 C T 17: 37,380,305 (GRCm39) T736I probably damaging Het
Garre1 A G 7: 33,963,072 (GRCm39) V200A probably benign Het
Gm14496 T A 2: 181,637,613 (GRCm39) M229K possibly damaging Het
Gm4553 ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC 7: 141,719,157 (GRCm39) probably benign Het
Gspt1 T C 16: 11,040,521 (GRCm39) T596A probably benign Het
H1f4 A G 13: 23,806,350 (GRCm39) I44T probably damaging Het
Htr5b T A 1: 121,438,157 (GRCm39) Y358F probably damaging Het
Il18r1 A T 1: 40,513,992 (GRCm39) Y66F possibly damaging Het
Il18rap A G 1: 40,564,536 (GRCm39) T189A probably damaging Het
Irag2 G A 6: 145,104,424 (GRCm39) G164R possibly damaging Het
Itgav G T 2: 83,625,327 (GRCm39) A771S probably benign Het
Klf11 T C 12: 24,705,518 (GRCm39) V324A possibly damaging Het
Krtap15-1 T C 16: 88,626,193 (GRCm39) C87R probably benign Het
Mapk8ip3 C T 17: 25,120,692 (GRCm39) G807D probably benign Het
Mbd5 A G 2: 49,169,755 (GRCm39) D1642G probably benign Het
Med15 G T 16: 17,489,507 (GRCm39) Q356K unknown Het
Mmp3 A G 9: 7,446,937 (GRCm39) Y39C probably damaging Het
Mon2 A G 10: 122,849,851 (GRCm39) S1149P probably damaging Het
Msh3 A G 13: 92,422,512 (GRCm39) I548T probably damaging Het
Noc2l T A 4: 156,323,673 (GRCm39) V179E possibly damaging Het
Or4b1b A T 2: 90,112,748 (GRCm39) M57K probably damaging Het
Or5k3 T G 16: 58,969,684 (GRCm39) M157R possibly damaging Het
Or5p64 G T 7: 107,854,425 (GRCm39) Q307K probably benign Het
Oxa1l A T 14: 54,598,312 (GRCm39) M1L probably benign Het
Pcdhb10 A T 18: 37,546,079 (GRCm39) Q385L possibly damaging Het
Pdzd2 T C 15: 12,592,329 (GRCm39) K105R probably damaging Het
Pex1 A T 5: 3,668,875 (GRCm39) D582V probably damaging Het
Pheta1 A T 5: 121,991,336 (GRCm39) T233S possibly damaging Het
Pi4ka A G 16: 17,223,496 (GRCm39) probably null Het
Pigw T C 11: 84,768,066 (GRCm39) N421S probably benign Het
Plek T C 11: 16,944,739 (GRCm39) K97R probably benign Het
R3hcc1l C T 19: 42,571,979 (GRCm39) R753* probably null Het
R3hdml G A 2: 163,344,367 (GRCm39) W252* probably null Het
Septin12 T C 16: 4,809,599 (GRCm39) K238E probably damaging Het
Sgce G A 6: 4,691,615 (GRCm39) T320I probably benign Het
Sidt2 A T 9: 45,854,988 (GRCm39) C562* probably null Het
Skint8 T C 4: 111,796,717 (GRCm39) C274R possibly damaging Het
Slc13a5 A T 11: 72,135,953 (GRCm39) M529K probably damaging Het
Smg8 T G 11: 86,976,391 (GRCm39) S397R possibly damaging Het
Spock3 G T 8: 63,566,590 (GRCm39) R68L possibly damaging Het
Stau2 T A 1: 16,530,553 (GRCm39) H122L unknown Het
Tent5a G C 9: 85,206,670 (GRCm39) A376G possibly damaging Het
Tert G A 13: 73,790,495 (GRCm39) R858H probably damaging Het
Tgm3 G A 2: 129,890,211 (GRCm39) R658Q probably benign Het
Tmc4 A G 7: 3,672,918 (GRCm39) I455T probably benign Het
Tmtc4 G A 14: 123,215,593 (GRCm39) P18S probably benign Het
Tnc A G 4: 63,890,959 (GRCm39) I1641T probably damaging Het
Trav14-3 A T 14: 54,000,951 (GRCm39) N54I probably damaging Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Unc93a A G 17: 13,335,171 (GRCm39) F292L probably benign Het
Uso1 A G 5: 92,321,851 (GRCm39) N248S possibly damaging Het
Usp5 A G 6: 124,803,281 (GRCm39) L73P probably damaging Het
Utp20 T A 10: 88,598,797 (GRCm39) I60F possibly damaging Het
Vmn2r94 T A 17: 18,463,882 (GRCm39) I803F probably benign 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
R0179:Unc5c UTSW 3 141,523,828 (GRCm39) nonsense probably null
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
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'- TTGTGCCTCAGATCTCCTGG -3'
(R):5'- TATGACTTCAAGCTGCATCTTTGTC -3'

Sequencing Primer
(F):5'- TCAGCTGCAGCCATGTACAG -3'
(R):5'- GCATCTTTGTCACTTAAATTTTCAGG -3'
Posted On 2019-06-26