Incidental Mutation 'R7787:Unc5c'
ID 599579
Institutional Source Beutler Lab
Gene Symbol Unc5c
Ensembl Gene ENSMUSG00000059921
Gene Name unc-5 netrin receptor C
Synonyms B130051O18Rik, Unc5h3
MMRRC Submission 045843-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7787 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 141171360-141540685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 141474313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 295 (G295D)
Ref Sequence ENSEMBL: ENSMUSP00000074758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075282] [ENSMUST00000106236] [ENSMUST00000130636] [ENSMUST00000142762]
AlphaFold O08747
Predicted Effect probably damaging
Transcript: ENSMUST00000075282
AA Change: G295D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: G295D

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: G295D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: G295D

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: G221D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: G221D

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: G295D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: G295D

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (74/74)
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
2310022A10Rik T A 7: 27,263,926 (GRCm39) I38N probably damaging Het
Abcb4 G A 5: 8,959,220 (GRCm39) V216M probably damaging Het
Abcc2 G A 19: 43,772,685 (GRCm39) V32M probably damaging Het
Adgrb3 C A 1: 25,471,625 (GRCm39) V714F probably damaging Het
Ahnak T A 19: 8,986,679 (GRCm39) D2654E unknown Het
Ak8 T A 2: 28,602,324 (GRCm39) I86N probably damaging Het
Apob G A 12: 8,040,780 (GRCm39) R635Q probably damaging Het
Atp10b G A 11: 43,150,700 (GRCm39) R1466H possibly damaging Het
Bltp1 A C 3: 36,939,557 (GRCm39) H137P probably damaging Het
Btnl9 T C 11: 49,066,866 (GRCm39) T252A unknown Het
Cacna1e T A 1: 154,358,314 (GRCm39) I648F probably damaging Het
Camkk1 A G 11: 72,917,412 (GRCm39) D121G probably benign Het
Cc2d1a C A 8: 84,860,144 (GRCm39) Q904H possibly damaging Het
Cd1d1 A G 3: 86,904,903 (GRCm39) S212P probably damaging Het
Cfap69 C T 5: 5,639,260 (GRCm39) C638Y probably damaging Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Clca4a A G 3: 144,659,594 (GRCm39) V754A probably benign Het
Cnpy4 T A 5: 138,190,900 (GRCm39) H187Q probably benign Het
Cpne5 A T 17: 29,407,261 (GRCm39) probably null Het
Crnkl1 A T 2: 145,767,515 (GRCm39) N359K probably benign Het
Cyb561 A T 11: 105,828,466 (GRCm39) L63H probably damaging Het
Dock4 A G 12: 40,775,676 (GRCm39) T540A probably benign Het
Edc4 T A 8: 106,614,146 (GRCm39) Y7* probably null Het
Fstl5 A C 3: 76,337,131 (GRCm39) D230A probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hecw1 T C 13: 14,493,494 (GRCm39) Q337R probably damaging Het
Hmcn1 A T 1: 150,632,343 (GRCm39) Y865N probably damaging Het
Hyal6 A G 6: 24,743,735 (GRCm39) Y477C probably damaging Het
Ifi205 C T 1: 173,842,640 (GRCm39) G352E probably damaging Het
Ifi205 T A 1: 173,842,644 (GRCm39) S351C probably damaging Het
Irak3 C A 10: 120,012,256 (GRCm39) Q169H probably benign Het
Itgb1 T A 8: 129,453,499 (GRCm39) N99K probably benign Het
Kng2 A G 16: 22,818,598 (GRCm39) F298S probably damaging Het
Kri1 T C 9: 21,192,380 (GRCm39) E256G Het
Lamc3 T C 2: 31,790,551 (GRCm39) I257T probably damaging Het
Mas1 A C 17: 13,061,374 (GRCm39) N16K possibly damaging Het
Mdn1 T A 4: 32,741,794 (GRCm39) L3855Q probably damaging Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Mybph G A 1: 134,125,246 (GRCm39) G258D probably benign Het
Mycbp2 A C 14: 103,364,533 (GRCm39) H4358Q probably damaging Het
Nat10 T C 2: 103,552,208 (GRCm39) D1012G unknown Het
Nub1 C A 5: 24,913,801 (GRCm39) Q561K probably benign Het
Nynrin A G 14: 56,107,980 (GRCm39) N1029S probably benign Het
Or52x1 A T 7: 104,853,252 (GRCm39) C99* probably null Het
Or56a4 T G 7: 104,806,401 (GRCm39) I163L probably benign Het
Or5k15 A G 16: 58,709,953 (GRCm39) F210S probably benign Het
Or6e1 A G 14: 54,520,169 (GRCm39) L61P probably damaging Het
Or8g19 C T 9: 39,055,548 (GRCm39) L51F probably benign Het
Pcsk1 T A 13: 75,280,277 (GRCm39) Y701N possibly damaging Het
Pglyrp4 C G 3: 90,640,295 (GRCm39) H182D probably damaging Het
Phaf1 T G 8: 105,957,820 (GRCm39) V42G probably damaging Het
Pkp4 C A 2: 59,152,881 (GRCm39) D576E probably damaging Het
Plec A G 15: 76,083,811 (GRCm39) V17A unknown Het
Polq T A 16: 36,837,671 (GRCm39) N194K probably damaging Het
Pou4f1 A T 14: 104,703,460 (GRCm39) M324K unknown Het
Ppa2 G T 3: 133,036,259 (GRCm39) G138W probably damaging Het
Prob1 A T 18: 35,785,285 (GRCm39) F990I possibly damaging Het
Proser1 T A 3: 53,380,969 (GRCm39) I182N probably damaging Het
Sgk3 T C 1: 9,952,016 (GRCm39) L214P probably damaging Het
Sipa1l1 T C 12: 82,496,762 (GRCm39) S1765P possibly damaging Het
Slc15a2 G A 16: 36,572,228 (GRCm39) S712L probably benign Het
Slc38a9 T C 13: 112,825,880 (GRCm39) L106P probably damaging Het
Slc43a2 G A 11: 75,453,900 (GRCm39) R271H probably damaging Het
Spsb4 T A 9: 96,877,643 (GRCm39) I227F probably damaging Het
Srgap3 C T 6: 112,752,520 (GRCm39) M321I probably benign Het
Stam2 T C 2: 52,596,418 (GRCm39) I340V probably benign Het
Tbc1d5 T A 17: 51,181,711 (GRCm39) R341* probably null Het
Terf2ip A C 8: 112,742,087 (GRCm39) E260D probably damaging Het
Tert G T 13: 73,797,051 (GRCm39) K1096N probably damaging Het
Ttc32 T A 12: 9,088,083 (GRCm39) D103E probably benign Het
Ube3d T A 9: 86,254,395 (GRCm39) Q362L possibly damaging Het
Wnt7b T A 15: 85,428,112 (GRCm39) I117F probably damaging Het
Zcchc7 T C 4: 44,895,043 (GRCm39) probably null Het
Zfp619 A G 7: 39,186,226 (GRCm39) Q752R possibly damaging Het
Zkscan3 T C 13: 21,572,034 (GRCm39) K533E 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
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
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'- ACTCTGGTCCATATGCTGTGTG -3'
(R):5'- GAGGAATCTGACTTCTCAGCAAGG -3'

Sequencing Primer
(F):5'- CTGGTCCATATGCTGTGTGTTATTTG -3'
(R):5'- CTGACTTCTCAGCAAGGTAAATACTG -3'
Posted On 2019-11-26