Incidental Mutation 'R1682:Unc5d'
ID 189246
Institutional Source Beutler Lab
Gene Symbol Unc5d
Ensembl Gene ENSMUSG00000063626
Gene Name unc-5 netrin receptor D
Synonyms D930029E11Rik, Unc5h4
MMRRC Submission 039718-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # R1682 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 29136745-29709664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29249109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 319 (S319C)
Ref Sequence ENSEMBL: ENSMUSP00000147721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168630] [ENSMUST00000209401] [ENSMUST00000210298] [ENSMUST00000210785] [ENSMUST00000211448]
AlphaFold Q8K1S2
Predicted Effect probably damaging
Transcript: ENSMUST00000168630
AA Change: S319C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
AA Change: S319C

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
SCOP:d1cs6a2 52 146 5e-3 SMART
IGc2 169 236 2.66e-8 SMART
TSP1 253 304 2.29e-13 SMART
TSP1 309 358 6.33e-7 SMART
transmembrane domain 383 405 N/A INTRINSIC
Pfam:ZU5 545 642 1.6e-33 PFAM
DEATH 850 941 4.77e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000209401
AA Change: S263C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000210298
AA Change: S263C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000210785
AA Change: S319C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211448
AA Change: S263C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice exhibit impaired induced growth cone collapse response and accelerated radial migration of cortical neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,283,043 (GRCm39) D2203G probably benign Het
Acin1 A G 14: 54,901,175 (GRCm39) S629P probably damaging Het
Agbl2 T A 2: 90,614,434 (GRCm39) I22N probably benign Het
Ank1 A G 8: 23,599,343 (GRCm39) E796G probably damaging Het
Ankrd13d A G 19: 4,332,961 (GRCm39) L13P probably damaging Het
Ankrd36 T C 11: 5,557,143 (GRCm39) S364P possibly damaging Het
Ap2a1 T C 7: 44,565,362 (GRCm39) T126A probably benign Het
Apob A G 12: 8,062,365 (GRCm39) I3616V probably benign Het
Arl5a A T 2: 52,306,214 (GRCm39) N39K probably benign Het
Baiap2 G A 11: 119,888,366 (GRCm39) R334H probably damaging Het
Bbox1 T A 2: 110,122,893 (GRCm39) N132I possibly damaging Het
Bcl11b A G 12: 107,882,908 (GRCm39) L469P probably damaging Het
Brca1 A G 11: 101,416,391 (GRCm39) I581T probably damaging Het
Cacng2 T C 15: 78,002,997 (GRCm39) Y32C probably damaging Het
Capn9 G T 8: 125,338,304 (GRCm39) probably null Het
Cdh18 A G 15: 23,400,671 (GRCm39) T290A probably benign Het
Cdk5rap2 C T 4: 70,220,387 (GRCm39) V593I possibly damaging Het
Cep128 G C 12: 91,197,596 (GRCm39) D91E probably damaging Het
Cep295 T C 9: 15,245,217 (GRCm39) M1080V probably benign Het
Coq8b T A 7: 26,939,549 (GRCm39) M193K probably benign Het
Csn1s2b A G 5: 87,970,162 (GRCm39) Y131C probably damaging Het
D130043K22Rik T C 13: 25,066,539 (GRCm39) S779P probably damaging Het
Dgat1 C T 15: 76,387,219 (GRCm39) C356Y probably benign Het
Dipk1c A T 18: 84,754,988 (GRCm39) I155F possibly damaging Het
Dnah12 A T 14: 26,500,840 (GRCm39) T1543S possibly damaging Het
Dock3 T C 9: 106,851,040 (GRCm39) S821G probably damaging Het
Dock4 G A 12: 40,775,779 (GRCm39) C574Y probably damaging Het
Dr1 T C 5: 108,417,604 (GRCm39) I50T probably damaging Het
Dzip3 A T 16: 48,778,780 (GRCm39) probably null Het
Eln C A 5: 134,732,636 (GRCm39) *861L probably null Het
Eml6 T A 11: 29,709,065 (GRCm39) H24L probably benign Het
Eps8l3 A C 3: 107,798,622 (GRCm39) T503P possibly damaging Het
Fgf1 C A 18: 38,974,985 (GRCm39) D155Y possibly damaging Het
Fkbp15 A T 4: 62,242,431 (GRCm39) M507K probably damaging Het
Flnb A T 14: 7,913,121 (GRCm38) R1463S probably benign Het
Fras1 C T 5: 96,793,732 (GRCm39) T1018I probably benign Het
Gm10803 T A 2: 93,394,533 (GRCm39) C102S probably damaging Het
Gpatch1 C A 7: 35,002,812 (GRCm39) V233L possibly damaging Het
Gramd1a T C 7: 30,842,325 (GRCm39) probably null Het
Gsk3a T C 7: 24,935,133 (GRCm39) T106A possibly damaging Het
Hap1 A G 11: 100,240,302 (GRCm39) V136A possibly damaging Het
Helq A T 5: 100,940,679 (GRCm39) S307T probably benign Het
Herc2 T A 7: 55,738,148 (GRCm39) S264T possibly damaging Het
Htr4 A G 18: 62,561,137 (GRCm39) M133V possibly damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Jakmip2 A G 18: 43,714,896 (GRCm39) probably null Het
Ldhd T A 8: 112,354,745 (GRCm39) S358C possibly damaging Het
Lrp1 A T 10: 127,410,201 (GRCm39) V1515E probably damaging Het
Ltbp3 A G 19: 5,801,782 (GRCm39) D700G probably benign Het
Magel2 T G 7: 62,029,983 (GRCm39) S962R unknown Het
Map2 A C 1: 66,454,781 (GRCm39) probably null Het
Map3k1 T A 13: 111,893,684 (GRCm39) E704V probably damaging Het
Mrpl39 A T 16: 84,527,347 (GRCm39) V180D probably damaging Het
Myef2 T C 2: 124,939,978 (GRCm39) M383V probably damaging Het
Myh3 A G 11: 66,979,891 (GRCm39) Y610C probably damaging Het
Or10ak7 A G 4: 118,791,778 (GRCm39) L89P probably damaging Het
Or51h1 T C 7: 102,308,904 (GRCm39) V292A probably damaging Het
Or8g54 T A 9: 39,706,954 (GRCm39) Y94* probably null Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pabpc1 T A 15: 36,605,785 (GRCm39) N135I possibly damaging Het
Pcsk6 T A 7: 65,559,976 (GRCm39) H100Q probably damaging Het
Pdss1 A G 2: 22,805,531 (GRCm39) K270E probably damaging Het
Pigx A T 16: 31,906,268 (GRCm39) S18T possibly damaging Het
Plbd2 T A 5: 120,623,849 (GRCm39) T558S probably damaging Het
Plppr1 A T 4: 49,325,617 (GRCm39) probably null Het
Plppr2 T A 9: 21,855,717 (GRCm39) V230E possibly damaging Het
Pola2 A G 19: 6,003,091 (GRCm39) probably null Het
Ppp2r3d A G 9: 101,089,505 (GRCm39) S273P probably benign Het
Prkdc A G 16: 15,494,853 (GRCm39) E741G probably benign Het
Prom2 C A 2: 127,382,082 (GRCm39) V111L possibly damaging Het
Rapgef4 A G 2: 72,056,912 (GRCm39) D557G possibly damaging Het
Rgs10 T C 7: 127,975,694 (GRCm39) T158A probably benign Het
Rnf123 A C 9: 107,954,597 (GRCm39) Y40D probably benign Het
Rnf14 A G 18: 38,441,242 (GRCm39) T211A probably benign Het
Rp1l1 T A 14: 64,266,417 (GRCm39) S668T probably damaging Het
Sema6d T A 2: 124,507,069 (GRCm39) L946Q probably benign Het
Sgcd T G 11: 47,085,869 (GRCm39) K94Q probably benign Het
Skor2 A T 18: 76,947,211 (GRCm39) D311V unknown Het
Slc34a1 A T 13: 23,996,623 (GRCm39) I43F probably damaging Het
Spdye4c C A 2: 128,434,542 (GRCm39) P40T probably damaging Het
Srp72 C A 5: 77,135,717 (GRCm39) Q216K possibly damaging Het
Tmem62 C T 2: 120,837,538 (GRCm39) T485I probably benign Het
Tmem94 G T 11: 115,681,056 (GRCm39) V432L probably damaging Het
Trio T C 15: 27,744,232 (GRCm39) probably null Het
Uggt2 A T 14: 119,292,055 (GRCm39) D581E probably benign Het
Vmn1r211 T C 13: 23,035,813 (GRCm39) I285V probably damaging Het
Vmn2r68 A G 7: 84,882,574 (GRCm39) Y393H possibly damaging Het
Vmn2r99 A C 17: 19,598,207 (GRCm39) N77T probably damaging Het
Other mutations in Unc5d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Unc5d APN 8 29,209,854 (GRCm39) missense probably damaging 0.97
IGL00687:Unc5d APN 8 29,205,841 (GRCm39) splice site probably benign
IGL00970:Unc5d APN 8 29,186,456 (GRCm39) missense probably benign 0.15
IGL01992:Unc5d APN 8 29,142,819 (GRCm39) missense probably damaging 0.98
IGL02024:Unc5d APN 8 29,142,855 (GRCm39) missense probably benign 0.08
IGL02080:Unc5d APN 8 29,381,316 (GRCm39) splice site probably null
IGL02902:Unc5d APN 8 29,365,634 (GRCm39) missense probably damaging 1.00
IGL02982:Unc5d APN 8 29,142,881 (GRCm39) missense probably damaging 1.00
R0071:Unc5d UTSW 8 29,209,854 (GRCm39) missense possibly damaging 0.62
R0071:Unc5d UTSW 8 29,209,854 (GRCm39) missense possibly damaging 0.62
R0761:Unc5d UTSW 8 29,186,560 (GRCm39) splice site probably null
R0941:Unc5d UTSW 8 29,249,055 (GRCm39) missense possibly damaging 0.85
R1086:Unc5d UTSW 8 29,365,658 (GRCm39) missense possibly damaging 0.87
R1625:Unc5d UTSW 8 29,173,234 (GRCm39) missense probably damaging 1.00
R1635:Unc5d UTSW 8 29,250,777 (GRCm39) missense probably benign 0.14
R1698:Unc5d UTSW 8 29,186,506 (GRCm39) missense probably damaging 0.99
R2015:Unc5d UTSW 8 29,249,007 (GRCm39) missense probably damaging 1.00
R2132:Unc5d UTSW 8 29,365,557 (GRCm39) missense possibly damaging 0.50
R2174:Unc5d UTSW 8 29,184,568 (GRCm39) missense probably damaging 0.99
R2210:Unc5d UTSW 8 29,251,825 (GRCm39) missense probably damaging 0.97
R3684:Unc5d UTSW 8 29,184,620 (GRCm39) missense probably damaging 1.00
R3734:Unc5d UTSW 8 29,251,826 (GRCm39) missense probably benign 0.02
R4093:Unc5d UTSW 8 29,334,865 (GRCm39) missense possibly damaging 0.87
R4287:Unc5d UTSW 8 29,209,824 (GRCm39) missense probably benign 0.00
R4888:Unc5d UTSW 8 29,156,927 (GRCm39) missense probably benign 0.02
R5000:Unc5d UTSW 8 29,205,775 (GRCm39) missense possibly damaging 0.90
R5060:Unc5d UTSW 8 29,209,723 (GRCm39) missense probably benign 0.00
R5076:Unc5d UTSW 8 29,184,704 (GRCm39) missense possibly damaging 0.88
R5696:Unc5d UTSW 8 29,156,870 (GRCm39) missense probably benign 0.06
R6024:Unc5d UTSW 8 29,365,539 (GRCm39) missense possibly damaging 0.96
R6077:Unc5d UTSW 8 29,165,335 (GRCm39) missense possibly damaging 0.94
R6259:Unc5d UTSW 8 29,156,820 (GRCm39) missense probably benign 0.00
R6387:Unc5d UTSW 8 29,365,554 (GRCm39) nonsense probably null
R7038:Unc5d UTSW 8 29,205,749 (GRCm39) critical splice donor site probably null
R7577:Unc5d UTSW 8 29,381,449 (GRCm39) missense probably damaging 1.00
R7641:Unc5d UTSW 8 29,210,003 (GRCm39) missense probably damaging 1.00
R8175:Unc5d UTSW 8 29,334,855 (GRCm39) missense probably damaging 1.00
R8426:Unc5d UTSW 8 29,210,016 (GRCm39) missense probably damaging 1.00
R8465:Unc5d UTSW 8 29,156,877 (GRCm39) missense probably damaging 1.00
R8748:Unc5d UTSW 8 29,186,453 (GRCm39) missense probably benign 0.15
R9228:Unc5d UTSW 8 29,165,448 (GRCm39) missense probably damaging 1.00
R9234:Unc5d UTSW 8 29,250,877 (GRCm39) missense probably damaging 0.98
R9257:Unc5d UTSW 8 29,215,174 (GRCm39) critical splice donor site probably null
R9338:Unc5d UTSW 8 29,709,471 (GRCm39) unclassified probably benign
R9524:Unc5d UTSW 8 29,365,639 (GRCm39) missense probably damaging 1.00
R9732:Unc5d UTSW 8 29,381,319 (GRCm39) critical splice donor site probably null
R9738:Unc5d UTSW 8 29,214,332 (GRCm39) missense probably benign 0.07
R9742:Unc5d UTSW 8 29,156,792 (GRCm39) critical splice donor site probably null
R9743:Unc5d UTSW 8 29,209,801 (GRCm39) missense possibly damaging 0.84
X0058:Unc5d UTSW 8 29,250,758 (GRCm39) missense probably benign 0.12
X0060:Unc5d UTSW 8 29,184,704 (GRCm39) missense possibly damaging 0.88
Z1176:Unc5d UTSW 8 29,249,081 (GRCm39) missense probably damaging 1.00
Z1177:Unc5d UTSW 8 29,381,336 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GAATGAACTCAGATGCTTTGCAGCAC -3'
(R):5'- GAGGTTCAGCACATAGTTGCCTATCC -3'

Sequencing Primer
(F):5'- gtgtgtgtgtgtgtgGTGC -3'
(R):5'- ACTCTTTGGCATGAAAGACTGG -3'
Posted On 2014-05-14