Incidental Mutation 'IGL01985:Ror1'
ID181867
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 #IGL01985
Quality Score
Status
Chromosome4
Chromosomal Location100095791-100444765 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 100425964 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 409 (V409M)
Ref Sequence ENSEMBL: ENSMUSP00000048171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039630]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039630
AA Change: V409M

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: V409M

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cass4 A C 2: 172,427,206 S403R probably damaging Het
Ccdc175 A T 12: 72,128,278 Y540* probably null Het
Cep164 C T 9: 45,779,606 E1266K probably damaging Het
Clec12b T A 6: 129,382,371 probably benign Het
Col6a5 T C 9: 105,937,283 K510R unknown Het
Crisp4 G A 1: 18,134,065 P101S probably damaging Het
Dapk1 T C 13: 60,736,260 L614P probably damaging Het
Dip2c T C 13: 9,553,267 probably benign Het
Dock7 A G 4: 99,023,377 F589L probably benign Het
Dvl2 T A 11: 70,008,293 V459E probably damaging Het
E2f6 T C 12: 16,819,063 probably null Het
Exph5 T C 9: 53,376,569 L1650P probably damaging Het
Farp2 A G 1: 93,607,602 Y691C probably damaging Het
Fshb T C 2: 107,058,828 T44A probably benign Het
Gm13178 G A 4: 144,715,454 Q76* probably null Het
Gm28044 T A 13: 67,347,894 K28* probably null Het
Il12b G A 11: 44,408,054 W112* probably null Het
Ino80 T C 2: 119,433,321 T621A probably damaging Het
Irx5 T A 8: 92,359,527 probably benign Het
Jmy T C 13: 93,459,636 H495R possibly damaging Het
Kif21a A T 15: 90,991,767 V321D probably damaging Het
Lrrc10 T A 10: 117,046,016 D198E probably damaging Het
Lrsam1 T C 2: 32,928,091 E651G probably benign Het
Marc1 A G 1: 184,787,734 V230A probably damaging Het
Mylk4 T A 13: 32,717,581 I475L possibly damaging Het
Myom3 G A 4: 135,765,702 probably null Het
Olfr201 A T 16: 59,269,079 V196E probably benign Het
Pah G A 10: 87,578,982 V399M probably damaging Het
Pik3r4 G A 9: 105,663,045 E711K probably benign Het
Rbbp6 A G 7: 122,971,073 K38E probably damaging Het
Slc6a11 T A 6: 114,134,892 V140D probably benign Het
Srebf2 G T 15: 82,192,359 A737S probably benign Het
Tcerg1 A G 18: 42,530,656 T303A unknown Het
Tmem74 A T 15: 43,867,080 I189N probably damaging Het
Tnr A G 1: 159,919,037 D1242G possibly damaging Het
U2surp A T 9: 95,490,226 F293L probably damaging Het
Uchl5 G A 1: 143,786,126 probably benign Het
Usp34 T A 11: 23,452,565 C2472S probably damaging Het
Usp42 G A 5: 143,715,185 R1028W probably damaging Het
Vmn2r10 A G 5: 109,006,259 S60P probably benign Het
Vmn2r31 G T 7: 7,394,511 D249E probably benign Het
Vnn1 C T 10: 23,900,744 T331I probably benign Het
Zmym6 G T 4: 127,100,748 V232F 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
IGL02002:Ror1 APN 4 100441184 missense probably damaging 1.00
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