Incidental Mutation 'IGL02269:Unc5c'
ID 287069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Unc5c
Ensembl Gene ENSMUSG00000059921
Gene Name unc-5 netrin receptor C
Synonyms B130051O18Rik, Unc5h3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02269
Quality Score
Status
Chromosome 3
Chromosomal Location 141171360-141540685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 141494743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 352 (R352H)
Ref Sequence ENSEMBL: ENSMUSP00000117487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075282] [ENSMUST00000106236] [ENSMUST00000130636] [ENSMUST00000142762]
AlphaFold O08747
Predicted Effect possibly damaging
Transcript: ENSMUST00000075282
AA Change: R426H

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: R426H

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: R407H

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: R407H

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 noncoding transcript
Transcript: ENSMUST00000123631
Predicted Effect probably damaging
Transcript: ENSMUST00000130636
AA Change: R352H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: R352H

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 possibly damaging
Transcript: ENSMUST00000142762
AA Change: R426H

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: R426H

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
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A G 11: 50,833,425 (GRCm39) V59A unknown Het
A2ml1 C A 6: 128,530,301 (GRCm39) probably benign Het
Akap13 G A 7: 75,252,659 (GRCm39) R263H probably benign Het
B3galt5 A G 16: 96,116,730 (GRCm39) D121G possibly damaging Het
Becn1 A G 11: 101,182,361 (GRCm39) probably benign Het
Carmil1 A T 13: 24,339,393 (GRCm39) L150* probably null Het
Cep170 A T 1: 176,596,932 (GRCm39) M475K probably benign Het
Cyp24a1 C T 2: 170,338,492 (GRCm39) G68D probably damaging Het
Cyp3a44 A T 5: 145,742,547 (GRCm39) I18N probably benign Het
Dmrt2 T C 19: 25,655,823 (GRCm39) V474A probably benign Het
Dtnb A G 12: 3,646,691 (GRCm39) D64G probably damaging Het
Epb41l3 T C 17: 69,554,568 (GRCm39) S223P probably damaging Het
Ephb2 A G 4: 136,498,360 (GRCm39) Y240H possibly damaging Het
Extl3 T C 14: 65,315,032 (GRCm39) Y50C probably damaging Het
Fat3 A C 9: 15,826,873 (GRCm39) S4360A possibly damaging Het
Fbxo9 A T 9: 77,994,835 (GRCm39) V230E probably damaging Het
Frmd4a T C 2: 4,609,045 (GRCm39) M971T probably benign Het
Gm7275 A G 16: 47,894,185 (GRCm39) noncoding transcript Het
Hyal6 C T 6: 24,740,858 (GRCm39) T337I probably damaging Het
Obsl1 C T 1: 75,464,357 (GRCm39) V1650M probably damaging Het
Or1j13 A T 2: 36,369,579 (GRCm39) S188T possibly damaging Het
Or52z14 T A 7: 103,253,089 (GRCm39) I76N probably damaging Het
Or7e169 A T 9: 19,757,024 (GRCm39) I297N possibly damaging Het
Or8c8 A T 9: 38,165,232 (GRCm39) D173V possibly damaging Het
Pcdh7 A C 5: 58,070,664 (GRCm39) E1114A probably damaging Het
Pde8a C T 7: 80,958,550 (GRCm39) probably benign Het
Pdzrn4 A T 15: 92,667,731 (GRCm39) S628C probably damaging Het
Pear1 C T 3: 87,663,571 (GRCm39) G376S probably damaging Het
Plekha6 C T 1: 133,215,587 (GRCm39) T644M possibly damaging Het
Plpp1 T A 13: 112,993,526 (GRCm39) C153S probably damaging Het
Ptpn3 G A 4: 57,197,510 (GRCm39) T793M possibly damaging Het
Rdh13 A T 7: 4,448,497 (GRCm39) L5Q possibly damaging Het
Rimbp2 G T 5: 128,851,359 (GRCm39) D862E probably damaging Het
Rita1 C T 5: 120,747,858 (GRCm39) A147T probably damaging Het
Scamp1 C T 13: 94,368,694 (GRCm39) probably benign Het
Scamp3 A G 3: 89,088,041 (GRCm39) T178A probably benign Het
Sh3tc1 A G 5: 35,863,628 (GRCm39) V853A probably benign Het
Snrnp200 C T 2: 127,071,911 (GRCm39) T1197M possibly damaging Het
Sult3a1 T C 10: 33,755,259 (GRCm39) F275L probably benign Het
Tenm4 A T 7: 96,473,029 (GRCm39) I905F probably damaging Het
Tgm3 T A 2: 129,866,438 (GRCm39) S119T probably benign Het
Tmem131l A T 3: 83,845,357 (GRCm39) D424E possibly damaging Het
Tmem45b G T 9: 31,339,279 (GRCm39) C145* probably null Het
Vmn2r12 A G 5: 109,234,343 (GRCm39) L623P probably damaging Het
Vmn2r68 T C 7: 84,870,947 (GRCm39) M779V possibly damaging Het
Zfhx2 T C 14: 55,309,393 (GRCm39) N902S 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
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
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
Posted On 2015-04-16