Incidental Mutation 'R6154:Unc5c'
ID 489431
Institutional Source Beutler Lab
Gene Symbol Unc5c
Ensembl Gene ENSMUSG00000059921
Gene Name unc-5 netrin receptor C
Synonyms B130051O18Rik, Unc5h3
MMRRC Submission 044301-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6154 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 141171360-141540685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 141383914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 97 (S97R)
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: S97R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: S97R

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: S97R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: S97R

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
SMART Domains Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921

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: S97R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: S97R

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 noncoding transcript
Transcript: ENSMUST00000155416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160604
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.8%
Validation Efficiency 97% (70/72)
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
Acss3 T G 10: 106,959,210 (GRCm39) I79L probably benign Het
Adam6a C T 12: 113,509,292 (GRCm39) T555I probably benign Het
Adap1 A G 5: 139,293,531 (GRCm39) V60A possibly damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Angpt1 T C 15: 42,387,051 (GRCm39) E101G probably damaging Het
Asxl2 T C 12: 3,546,593 (GRCm39) V459A possibly damaging Het
Cabs1 C T 5: 88,127,613 (GRCm39) T88I possibly damaging Het
Camta2 G A 11: 70,569,211 (GRCm39) A578V probably damaging Het
Cdc16 A G 8: 13,818,609 (GRCm39) N316D possibly damaging Het
Chrm3 T A 13: 9,928,476 (GRCm39) M187L possibly damaging Het
Clcn4 T C 7: 7,294,481 (GRCm39) T367A probably benign Het
Clcn7 T C 17: 25,376,928 (GRCm39) S654P probably damaging Het
Col6a3 T A 1: 90,701,387 (GRCm39) T2510S unknown Het
Crisp4 T C 1: 18,193,012 (GRCm39) E192G possibly damaging Het
Dmbt1 T A 7: 130,711,370 (GRCm39) probably null Het
Dnah5 T G 15: 28,204,177 (GRCm39) L18R probably benign Het
Dnah9 T G 11: 65,746,164 (GRCm39) D3983A probably benign Het
Dock5 C A 14: 68,097,361 (GRCm39) V71L probably benign Het
Dync1h1 T C 12: 110,584,427 (GRCm39) V610A probably damaging Het
Dynlrb2 A G 8: 117,242,428 (GRCm39) Y86C probably benign Het
Ep400 T C 5: 110,903,799 (GRCm39) I267V probably damaging Het
Gaa A G 11: 119,169,178 (GRCm39) Y575C probably damaging Het
Gm8094 T A 14: 42,934,020 (GRCm39) D24V probably benign Het
Grina T C 15: 76,133,087 (GRCm39) I244T possibly damaging Het
Haus6 A G 4: 86,501,993 (GRCm39) L626P possibly damaging Het
Hexd A T 11: 121,112,097 (GRCm39) H439L probably benign Het
Ifna12 A T 4: 88,521,531 (GRCm39) C5* probably null Het
Igf2bp2 G T 16: 21,894,843 (GRCm39) S300* probably null Het
Ighv6-5 T C 12: 114,380,362 (GRCm39) R71G probably benign Het
Lrrc37 A G 11: 103,504,969 (GRCm39) V2333A probably benign Het
Lrrn4cl T C 19: 8,829,252 (GRCm39) S77P probably damaging Het
Mast4 A G 13: 102,923,929 (GRCm39) L302P probably damaging Het
Mink1 T C 11: 70,500,927 (GRCm39) V831A possibly damaging Het
Mme T A 3: 63,207,674 (GRCm39) I40N probably damaging Het
Myh2 A G 11: 67,077,438 (GRCm39) T858A probably benign Het
Ncbp3 T A 11: 72,940,700 (GRCm39) Y67N probably damaging Het
Nedd1 T A 10: 92,534,104 (GRCm39) I349F possibly damaging Het
Nek11 A T 9: 105,200,368 (GRCm39) *81K probably null Het
Nrip1 A G 16: 76,090,718 (GRCm39) Y280H probably damaging Het
Obsl1 T C 1: 75,476,788 (GRCm39) D722G probably benign Het
Or10ag55-ps1 T G 2: 87,139,902 (GRCm39) S256R probably benign Het
Or2m12 A T 16: 19,105,181 (GRCm39) I104K probably damaging Het
Or4c29 A G 2: 88,740,734 (GRCm39) M1T probably null Het
Or5i1 A G 2: 87,613,100 (GRCm39) D72G possibly damaging Het
Or6c7 C T 10: 129,323,545 (GRCm39) T222I probably damaging Het
Pcdhb6 A G 18: 37,467,966 (GRCm39) I296V probably benign Het
Pcnx2 G T 8: 126,489,552 (GRCm39) L1681M probably damaging Het
Pdlim5 T C 3: 141,983,674 (GRCm39) R360G possibly damaging Het
Peli2 C T 14: 48,488,051 (GRCm39) Q81* probably null Het
Pitpnb C T 5: 111,486,263 (GRCm39) Q56* probably null Het
Ppp1r3a A G 6: 14,754,603 (GRCm39) S215P possibly damaging Het
Prrt3 A G 6: 113,471,989 (GRCm39) Y728H probably damaging Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sbno1 T C 5: 124,516,542 (GRCm39) H1277R possibly damaging Het
Siglecg C A 7: 43,061,441 (GRCm39) N481K possibly damaging Het
Sirt6 C T 10: 81,462,339 (GRCm39) G20D probably damaging Het
Sit1 C A 4: 43,482,981 (GRCm39) R89S probably benign Het
Slc7a12 A G 3: 14,546,094 (GRCm39) R80G probably damaging Het
Smok3c T A 5: 138,062,747 (GRCm39) M78K probably benign Het
Stk10 T A 11: 32,553,654 (GRCm39) probably null Het
Tada2b A G 5: 36,634,008 (GRCm39) V190A probably damaging Het
Tnk1 C T 11: 69,747,780 (GRCm39) V41I probably damaging Het
Tpr T A 1: 150,299,567 (GRCm39) V1146E probably benign Het
Trappc9 T C 15: 72,929,930 (GRCm39) D142G probably benign Het
Trpm3 T C 19: 22,965,178 (GRCm39) Y1558H probably damaging Het
Vmn1r172 T C 7: 23,359,583 (GRCm39) I156T probably damaging Het
Vmn2r51 A T 7: 9,821,921 (GRCm39) M588K possibly damaging Het
Vps26a T G 10: 62,304,119 (GRCm39) E117D probably damaging Het
Zfp451 A T 1: 33,842,627 (GRCm39) probably benign Het
Zfp534 C A 4: 147,759,145 (GRCm39) R508I probably benign Het
Zp3r C T 1: 130,526,642 (GRCm39) C187Y probably 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
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
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'- ACAAGAATGCCGTATTTTGACC -3'
(R):5'- AGACATCATTTTCCAGGATGTTCC -3'

Sequencing Primer
(F):5'- GAATGCCGTATTTTGACCATATTCC -3'
(R):5'- TGAACAGTCACATAGTTCATCAAC -3'
Posted On 2017-10-10