Incidental Mutation 'IGL02002:Ror1'
ID183087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ror1
Ensembl Gene ENSMUSG00000035305
Gene Namereceptor tyrosine kinase-like orphan receptor 1
Synonyms2810404D04Rik, Ntrkr1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02002
Quality Score
Status
Chromosome4
Chromosomal Location100095791-100444765 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 100441184 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 585 (S585T)
Ref Sequence ENSEMBL: ENSMUSP00000048171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039630]
Predicted Effect probably damaging
Transcript: ENSMUST00000039630
AA Change: S585T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: S585T

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
IGc2 70 138 8.37e-15 SMART
Pfam:Fz 170 290 4.9e-13 PFAM
KR 311 393 7.57e-47 SMART
transmembrane domain 404 426 N/A INTRINSIC
TyrKc 473 746 2.46e-137 SMART
low complexity region 753 762 N/A INTRINSIC
low complexity region 817 828 N/A INTRINSIC
low complexity region 849 864 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a receptor tyrosine kinase that has been implicated in nervous system development, specifically in the maintenance of neural progenitor cell fate, neurite extension and synapse formation. The encoded protein, likely a pseudokinase that lacks catalytic activity, may also regulate adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for some disruptions in this gene die within the first day after birth from respiratory defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A T 7: 28,152,796 Y1248F probably damaging Het
Abcg5 G T 17: 84,682,051 Y76* probably null Het
Acadsb T A 7: 131,428,529 V135E probably damaging Het
Acap1 A G 11: 69,884,460 Y326H probably damaging Het
Actl11 T A 9: 107,929,330 V284D probably benign Het
Adcy10 G T 1: 165,521,843 D428Y probably damaging Het
Akap8 A G 17: 32,309,496 C481R probably damaging Het
Amotl2 G A 9: 102,725,117 A26T probably damaging Het
Apob T C 12: 7,994,822 V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 N148K probably damaging Het
Ccdc149 G A 5: 52,406,079 T124M probably damaging Het
Cd320 A G 17: 33,843,240 probably benign Het
Clca4b T C 3: 144,932,433 T23A probably benign Het
Col22a1 A G 15: 71,811,097 probably benign Het
Col24a1 T A 3: 145,356,944 F675I possibly damaging Het
Col6a3 A G 1: 90,782,136 probably benign Het
Dap3 A T 3: 88,936,228 M19K probably benign Het
Dsg2 A G 18: 20,579,176 D123G probably damaging Het
Dysf T A 6: 84,210,787 probably benign Het
Erbb4 A G 1: 68,080,726 S853P probably damaging Het
Fbn2 A G 18: 58,114,553 M423T probably benign Het
Fgfr1 T C 8: 25,555,711 Y112H probably damaging Het
Gbp7 G A 3: 142,538,900 A203T probably damaging Het
Gon4l C T 3: 88,895,336 P1085S possibly damaging Het
Gsdma2 T C 11: 98,650,974 F176L probably damaging Het
Haghl A G 17: 25,784,265 F131S probably damaging Het
Hmcn1 G A 1: 150,615,298 P4167S probably damaging Het
Hscb T C 5: 110,830,954 N199D probably benign Het
Lmbr1l T A 15: 98,904,785 N428Y probably damaging Het
Mc2r T A 18: 68,407,434 M263L probably benign Het
Metap1 T A 3: 138,462,389 T325S probably damaging Het
Mff A G 1: 82,741,975 R225G probably damaging Het
Naprt A T 15: 75,891,372 L474Q probably damaging Het
Nin A T 12: 70,062,699 Y155* probably null Het
Nrg3 A T 14: 38,370,767 C612* probably null Het
Olfr170 T C 16: 19,606,550 I39M possibly damaging Het
Olfr472 A T 7: 107,903,290 D191V possibly damaging Het
Olfr781 T A 10: 129,333,127 I82K probably damaging Het
Pdilt A T 7: 119,500,444 F200L probably damaging Het
Ppard T G 17: 28,298,903 F315C probably damaging Het
Spdye4a T A 5: 143,225,705 I35F possibly damaging Het
Tenm2 T C 11: 36,207,095 K442R probably benign Het
Tln2 A G 9: 67,356,698 I553T probably damaging Het
Tmem269 T A 4: 119,214,141 I26F probably benign Het
Tsen2 T C 6: 115,559,607 V108A probably benign Het
Ttyh3 A T 5: 140,629,483 D383E probably damaging Het
Usp13 T C 3: 32,847,825 S102P probably damaging Het
Vmn2r118 T G 17: 55,592,619 S762R probably damaging Het
Washc4 A G 10: 83,579,543 N799S possibly damaging Het
Zcchc6 A G 13: 59,782,096 S1042P possibly damaging Het
Zdhhc17 C T 10: 110,967,689 V256I probably benign Het
Zfp51 T A 17: 21,463,959 F279I probably damaging Het
Zzz3 A G 3: 152,451,369 T223A probably damaging Het
Other mutations in Ror1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Ror1 APN 4 100333743 missense probably damaging 1.00
IGL00939:Ror1 APN 4 100441226 missense probably benign 0.01
IGL01408:Ror1 APN 4 100333787 missense probably damaging 1.00
IGL01678:Ror1 APN 4 100425968 missense possibly damaging 0.68
IGL01700:Ror1 APN 4 100409771 missense probably damaging 1.00
IGL01985:Ror1 APN 4 100425964 missense possibly damaging 0.94
IGL02634:Ror1 APN 4 100426110 missense probably benign 0.00
IGL02995:Ror1 APN 4 100334525 splice site probably benign
IGL03033:Ror1 APN 4 100411895 missense possibly damaging 0.67
IGL03207:Ror1 APN 4 100407945 splice site probably null
F5770:Ror1 UTSW 4 100440933 missense probably damaging 0.99
R0256:Ror1 UTSW 4 100409745 missense probably benign 0.20
R0417:Ror1 UTSW 4 100412000 missense possibly damaging 0.94
R0525:Ror1 UTSW 4 100441520 missense probably damaging 1.00
R1034:Ror1 UTSW 4 100333620 nonsense probably null
R1278:Ror1 UTSW 4 100441878 missense possibly damaging 0.69
R1368:Ror1 UTSW 4 100441137 missense possibly damaging 0.94
R1437:Ror1 UTSW 4 100412109 missense probably benign
R1441:Ror1 UTSW 4 100440983 missense probably benign
R1544:Ror1 UTSW 4 100441986 missense probably damaging 1.00
R1717:Ror1 UTSW 4 100302938 missense probably benign
R1857:Ror1 UTSW 4 100441503 missense probably damaging 1.00
R2018:Ror1 UTSW 4 100407841 nonsense probably null
R2051:Ror1 UTSW 4 100407868 nonsense probably null
R2127:Ror1 UTSW 4 100442093 missense probably benign
R2132:Ror1 UTSW 4 100410025 missense probably benign 0.35
R2133:Ror1 UTSW 4 100410025 missense probably benign 0.35
R2176:Ror1 UTSW 4 100441874 missense probably damaging 0.99
R2431:Ror1 UTSW 4 100441155 missense probably damaging 1.00
R2896:Ror1 UTSW 4 100096280 missense unknown
R3005:Ror1 UTSW 4 100441764 missense probably damaging 0.99
R3780:Ror1 UTSW 4 100412117 missense probably benign 0.34
R3850:Ror1 UTSW 4 100442160 missense possibly damaging 0.90
R3861:Ror1 UTSW 4 100407923 missense possibly damaging 0.46
R4599:Ror1 UTSW 4 100407910 missense probably damaging 0.99
R4863:Ror1 UTSW 4 100409804 missense probably damaging 0.99
R4871:Ror1 UTSW 4 100425998 missense probably benign
R4990:Ror1 UTSW 4 100441964 missense probably benign
R5023:Ror1 UTSW 4 100425932 missense probably benign 0.01
R5028:Ror1 UTSW 4 100411936 missense possibly damaging 0.67
R5079:Ror1 UTSW 4 100441422 missense probably damaging 1.00
R5294:Ror1 UTSW 4 100425938 missense probably benign 0.00
R5538:Ror1 UTSW 4 100441011 missense probably benign
R6339:Ror1 UTSW 4 100411931 missense possibly damaging 0.91
R6491:Ror1 UTSW 4 100409912 missense possibly damaging 0.94
R6632:Ror1 UTSW 4 100442106 missense probably benign
R6733:Ror1 UTSW 4 100426055 missense probably benign
R7022:Ror1 UTSW 4 100407911 missense probably damaging 1.00
R7054:Ror1 UTSW 4 100442239 missense probably benign 0.00
R7121:Ror1 UTSW 4 100302945 missense not run
V7580:Ror1 UTSW 4 100440933 missense probably damaging 0.99
V7583:Ror1 UTSW 4 100440933 missense probably damaging 0.99
X0020:Ror1 UTSW 4 100426090 missense probably benign 0.02
Posted On2014-05-07