Incidental Mutation 'R1815:Unc5c'
ID 202608
Institutional Source Beutler Lab
Gene Symbol Unc5c
Ensembl Gene ENSMUSG00000059921
Gene Name unc-5 netrin receptor C
Synonyms B130051O18Rik, Unc5h3
MMRRC Submission 039843-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1815 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 141171360-141540685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141463518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 213 (D213V)
Ref Sequence ENSEMBL: ENSMUSP00000118212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075282] [ENSMUST00000106236] [ENSMUST00000130636] [ENSMUST00000142762]
AlphaFold O08747
Predicted Effect probably damaging
Transcript: ENSMUST00000075282
AA Change: D213V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: D213V

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 damaging
Transcript: ENSMUST00000106236
AA Change: D213V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: D213V

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 damaging
Transcript: ENSMUST00000130636
AA Change: D139V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: D139V

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 damaging
Transcript: ENSMUST00000142762
AA Change: D213V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: D213V

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: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 90.5%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts4 A G 1: 171,083,905 (GRCm39) T492A probably damaging Het
Afg3l2 A T 18: 67,548,643 (GRCm39) L529* probably null Het
Ak9 A G 10: 41,213,572 (GRCm39) E259G probably damaging Het
Apol11b T A 15: 77,519,772 (GRCm39) I103F probably damaging Het
Atp7b T C 8: 22,501,667 (GRCm39) M864V possibly damaging Het
Atp8a2 A G 14: 60,324,073 (GRCm39) L60P probably damaging Het
Begain T C 12: 109,000,033 (GRCm39) Y451C probably damaging Het
Bmpr1b A T 3: 141,586,124 (GRCm39) I46N probably benign Het
Bms1 T A 6: 118,360,742 (GRCm39) K1242M probably damaging Het
Calcoco1 A G 15: 102,622,358 (GRCm39) L254P probably damaging Het
Ccdc112 A T 18: 46,424,173 (GRCm39) N188K possibly damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdkal1 A G 13: 29,901,774 (GRCm39) V132A possibly damaging Het
Cdo1 A G 18: 46,853,369 (GRCm39) C130R probably damaging Het
Cep295nl G T 11: 118,223,474 (GRCm39) R457S probably damaging Het
Cntn1 A T 15: 92,148,829 (GRCm39) I359F probably benign Het
Csnk1g1 T C 9: 65,939,606 (GRCm39) V435A probably damaging Het
Csnka2ip A G 16: 64,298,855 (GRCm39) V59A probably benign Het
Ddr2 A T 1: 169,823,170 (GRCm39) Y371* probably null Het
Dicer1 T C 12: 104,688,410 (GRCm39) E389G probably damaging Het
Dnah2 T C 11: 69,366,400 (GRCm39) I1901V probably damaging Het
Fanci T A 7: 79,088,056 (GRCm39) I903N probably damaging Het
Fastk T C 5: 24,646,529 (GRCm39) Q471R probably damaging Het
Flvcr1 A T 1: 190,757,577 (GRCm39) N238K probably damaging Het
Gsdmc3 A T 15: 63,740,965 (GRCm39) L61H probably damaging Het
H2-M10.5 T A 17: 37,084,836 (GRCm39) C187S probably damaging Het
Hmcn2 T C 2: 31,283,055 (GRCm39) I1977T probably damaging Het
Itpr2 T A 6: 146,260,914 (GRCm39) I905F probably benign Het
Jmy C T 13: 93,590,585 (GRCm39) G506D probably damaging Het
Klf4 G T 4: 55,530,977 (GRCm39) R45S probably benign Het
Klhdc7b A G 15: 89,271,800 (GRCm39) E894G probably damaging Het
Klra7 T C 6: 130,201,070 (GRCm39) I229V probably benign Het
Krt35 T C 11: 99,986,565 (GRCm39) T150A probably benign Het
Krtap20-1 T C 16: 88,812,337 (GRCm39) probably benign Het
Lct T C 1: 128,227,896 (GRCm39) Y1199C probably damaging Het
Lmbrd1 T A 1: 24,724,642 (GRCm39) N75K possibly damaging Het
Lss T C 10: 76,388,798 (GRCm39) S700P probably damaging Het
Ltbp1 A T 17: 75,559,375 (GRCm39) Q288L probably benign Het
Mical2 A G 7: 112,012,109 (GRCm39) E653G probably damaging Het
Mphosph10 G T 7: 64,041,918 (GRCm39) Q9K probably benign Het
Muc15 T A 2: 110,561,603 (GRCm39) L13Q probably damaging Het
Ncf4 A G 15: 78,134,602 (GRCm39) D18G probably benign Het
Nipsnap1 A G 11: 4,839,101 (GRCm39) Y127C probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Nudt12 G A 17: 59,317,131 (GRCm39) P172L probably damaging Het
Or8g18 T C 9: 39,149,286 (GRCm39) I145V probably benign Het
Otud4 T A 8: 80,366,618 (GRCm39) Y28* probably null Het
Pdcd2l G A 7: 33,885,826 (GRCm39) T286I probably benign Het
Pgbd1 A G 13: 21,607,342 (GRCm39) V284A probably damaging Het
Phlpp2 C A 8: 110,666,855 (GRCm39) T1128K probably damaging Het
Pik3cb A G 9: 98,975,148 (GRCm39) V244A possibly damaging Het
Pld1 A G 3: 28,163,917 (GRCm39) I783M probably benign Het
Plk5 T C 10: 80,199,855 (GRCm39) V454A probably benign Het
Prkci T C 3: 31,092,644 (GRCm39) S309P probably damaging Het
Prx A T 7: 27,216,090 (GRCm39) D197V probably damaging Het
Ptpn5 A G 7: 46,728,589 (GRCm39) L537P probably benign Het
Rev3l T A 10: 39,698,867 (GRCm39) N1121K probably benign Het
Rock2 T A 12: 17,022,727 (GRCm39) D1055E probably benign Het
Rrp1b T C 17: 32,275,785 (GRCm39) V444A probably benign Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rsf1 CG CGACGGGG 7: 97,229,115 (GRCm39) probably benign Het
Rsf1 GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,113 (GRCm39) probably benign Het
S1pr2 G A 9: 20,879,388 (GRCm39) R147* probably null Het
Serpinb9b A T 13: 33,223,887 (GRCm39) I360F probably damaging Het
Smc6 T C 12: 11,344,602 (GRCm39) probably null Het
Srsf11 C T 3: 157,722,064 (GRCm39) probably benign Het
Sstr1 T C 12: 58,260,264 (GRCm39) F296L possibly damaging Het
Tecrl T A 5: 83,427,081 (GRCm39) I356L probably benign Het
Tln2 A G 9: 67,136,705 (GRCm39) I2348T probably damaging Het
Tmed11 T A 5: 108,925,291 (GRCm39) I174L probably benign Het
Tmem132a G A 19: 10,838,931 (GRCm39) Q504* probably null Het
Utp25 A C 1: 192,800,591 (GRCm39) S410A probably benign Het
Vgll4 T C 6: 114,841,020 (GRCm39) D92G probably benign Het
Vps37a T C 8: 40,965,162 (GRCm39) F5L probably benign Het
Zdhhc20 A T 14: 58,127,600 (GRCm39) V13E probably benign Het
Zeb1 G A 18: 5,767,898 (GRCm39) C803Y probably damaging Het
Zmym1 T C 4: 126,942,814 (GRCm39) T427A 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
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
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'- CAGAATCAGCATGTTTGGCAG -3'
(R):5'- GCATGTGCTGGATTGAGGAC -3'

Sequencing Primer
(F):5'- CAGGTGAGTGATACCTAATATGACC -3'
(R):5'- GAGGACCTGAGTGTTCTCTTACC -3'
Posted On 2014-06-23