Incidental Mutation 'IGL01678:Ror1'
ID 103713
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ror1
Ensembl Gene ENSMUSG00000035305
Gene Name receptor tyrosine kinase-like orphan receptor 1
Synonyms Ntrkr1, 2810404D04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01678
Quality Score
Status
Chromosome 4
Chromosomal Location 99952988-100301962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100283165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 410 (P410L)
Ref Sequence ENSEMBL: ENSMUSP00000048171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039630]
AlphaFold Q9Z139
Predicted Effect possibly damaging
Transcript: ENSMUST00000039630
AA Change: P410L

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: P410L

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A T 4: 144,504,443 (GRCm39) M236K probably benign Het
Abcc1 T A 16: 14,222,883 (GRCm39) M186K probably null Het
Adamts3 T C 5: 89,855,715 (GRCm39) N385S probably damaging Het
Adamts6 T C 13: 104,450,196 (GRCm39) V299A probably damaging Het
Angel1 T C 12: 86,763,800 (GRCm39) E500G probably benign Het
Car9 T C 4: 43,512,941 (GRCm39) probably benign Het
Colec11 A G 12: 28,644,867 (GRCm39) F209S probably damaging Het
Dnaaf10 T C 11: 17,182,790 (GRCm39) V317A probably benign Het
Dock10 A G 1: 80,521,069 (GRCm39) Y1179H probably damaging Het
Ece1 T A 4: 137,690,044 (GRCm39) W697R probably damaging Het
Eml2 T A 7: 18,920,047 (GRCm39) M117K probably benign Het
Flii G T 11: 60,607,672 (GRCm39) probably benign Het
Frmpd1 T A 4: 45,243,717 (GRCm39) D63E probably damaging Het
Ftmt A T 18: 52,465,206 (GRCm39) H174L probably damaging Het
Gpr37l1 A G 1: 135,094,791 (GRCm39) V151A probably damaging Het
Inppl1 T C 7: 101,481,803 (GRCm39) T180A probably benign Het
Klhdc4 T C 8: 122,523,677 (GRCm39) D513G possibly damaging Het
Klrb1a A G 6: 128,595,411 (GRCm39) probably benign Het
Nit1 A G 1: 171,170,262 (GRCm39) V270A probably damaging Het
Or6c5 A C 10: 129,074,537 (GRCm39) D173A possibly damaging Het
Phox2b T A 5: 67,256,262 (GRCm39) Y8F probably damaging Het
Psg20 T A 7: 18,414,795 (GRCm39) S364C probably damaging Het
Rab38 T A 7: 88,079,740 (GRCm39) V44E probably damaging Het
Rapgef4 T C 2: 72,072,569 (GRCm39) probably benign Het
Rptn A G 3: 93,304,118 (GRCm39) N484D probably benign Het
Sirpb1a G T 3: 15,476,370 (GRCm39) S142R probably damaging Het
Smox G A 2: 131,353,979 (GRCm39) R17H possibly damaging Het
Top6bl T A 19: 4,722,193 (GRCm39) I76L possibly damaging Het
Trpm7 A T 2: 126,658,719 (GRCm39) C1146S probably damaging Het
Upf3a C T 8: 13,841,930 (GRCm39) A155V probably benign Het
Vmn1r212 A T 13: 23,068,081 (GRCm39) V84D probably damaging Het
Vmn2r40 T C 7: 8,923,105 (GRCm39) N419D probably damaging Het
Zfp143 C A 7: 109,679,558 (GRCm39) probably benign Het
Zmat4 T A 8: 24,392,064 (GRCm39) C7S probably damaging Het
Other mutations in Ror1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Ror1 APN 4 100,190,940 (GRCm39) missense probably damaging 1.00
IGL00939:Ror1 APN 4 100,298,423 (GRCm39) missense probably benign 0.01
IGL01408:Ror1 APN 4 100,190,984 (GRCm39) missense probably damaging 1.00
IGL01700:Ror1 APN 4 100,266,968 (GRCm39) missense probably damaging 1.00
IGL01985:Ror1 APN 4 100,283,161 (GRCm39) missense possibly damaging 0.94
IGL02002:Ror1 APN 4 100,298,381 (GRCm39) missense probably damaging 1.00
IGL02634:Ror1 APN 4 100,283,307 (GRCm39) missense probably benign 0.00
IGL02995:Ror1 APN 4 100,191,722 (GRCm39) splice site probably benign
IGL03033:Ror1 APN 4 100,269,092 (GRCm39) missense possibly damaging 0.67
IGL03207:Ror1 APN 4 100,265,142 (GRCm39) splice site probably null
F5770:Ror1 UTSW 4 100,298,130 (GRCm39) missense probably damaging 0.99
R0256:Ror1 UTSW 4 100,266,942 (GRCm39) missense probably benign 0.20
R0417:Ror1 UTSW 4 100,269,197 (GRCm39) missense possibly damaging 0.94
R0525:Ror1 UTSW 4 100,298,717 (GRCm39) missense probably damaging 1.00
R1034:Ror1 UTSW 4 100,190,817 (GRCm39) nonsense probably null
R1278:Ror1 UTSW 4 100,299,075 (GRCm39) missense possibly damaging 0.69
R1368:Ror1 UTSW 4 100,298,334 (GRCm39) missense possibly damaging 0.94
R1437:Ror1 UTSW 4 100,269,306 (GRCm39) missense probably benign
R1441:Ror1 UTSW 4 100,298,180 (GRCm39) missense probably benign
R1544:Ror1 UTSW 4 100,299,183 (GRCm39) missense probably damaging 1.00
R1717:Ror1 UTSW 4 100,160,135 (GRCm39) missense probably benign
R1857:Ror1 UTSW 4 100,298,700 (GRCm39) missense probably damaging 1.00
R2018:Ror1 UTSW 4 100,265,038 (GRCm39) nonsense probably null
R2051:Ror1 UTSW 4 100,265,065 (GRCm39) nonsense probably null
R2127:Ror1 UTSW 4 100,299,290 (GRCm39) missense probably benign
R2132:Ror1 UTSW 4 100,267,222 (GRCm39) missense probably benign 0.35
R2133:Ror1 UTSW 4 100,267,222 (GRCm39) missense probably benign 0.35
R2176:Ror1 UTSW 4 100,299,071 (GRCm39) missense probably damaging 0.99
R2431:Ror1 UTSW 4 100,298,352 (GRCm39) missense probably damaging 1.00
R2896:Ror1 UTSW 4 99,953,477 (GRCm39) missense unknown
R3005:Ror1 UTSW 4 100,298,961 (GRCm39) missense probably damaging 0.99
R3780:Ror1 UTSW 4 100,269,314 (GRCm39) missense probably benign 0.34
R3850:Ror1 UTSW 4 100,299,357 (GRCm39) missense possibly damaging 0.90
R3861:Ror1 UTSW 4 100,265,120 (GRCm39) missense possibly damaging 0.46
R4599:Ror1 UTSW 4 100,265,107 (GRCm39) missense probably damaging 0.99
R4863:Ror1 UTSW 4 100,267,001 (GRCm39) missense probably damaging 0.99
R4871:Ror1 UTSW 4 100,283,195 (GRCm39) missense probably benign
R4990:Ror1 UTSW 4 100,299,161 (GRCm39) missense probably benign
R5023:Ror1 UTSW 4 100,283,129 (GRCm39) missense probably benign 0.01
R5028:Ror1 UTSW 4 100,269,133 (GRCm39) missense possibly damaging 0.67
R5079:Ror1 UTSW 4 100,298,619 (GRCm39) missense probably damaging 1.00
R5294:Ror1 UTSW 4 100,283,135 (GRCm39) missense probably benign 0.00
R5538:Ror1 UTSW 4 100,298,208 (GRCm39) missense probably benign
R6339:Ror1 UTSW 4 100,269,128 (GRCm39) missense possibly damaging 0.91
R6491:Ror1 UTSW 4 100,267,109 (GRCm39) missense possibly damaging 0.94
R6632:Ror1 UTSW 4 100,299,303 (GRCm39) missense probably benign
R6733:Ror1 UTSW 4 100,283,252 (GRCm39) missense probably benign
R7022:Ror1 UTSW 4 100,265,108 (GRCm39) missense probably damaging 1.00
R7054:Ror1 UTSW 4 100,299,436 (GRCm39) missense probably benign 0.00
R7121:Ror1 UTSW 4 100,160,142 (GRCm39) missense probably benign 0.00
R7350:Ror1 UTSW 4 100,283,140 (GRCm39) missense probably benign 0.00
R7492:Ror1 UTSW 4 100,298,256 (GRCm39) missense probably benign 0.22
R7502:Ror1 UTSW 4 100,190,827 (GRCm39) missense probably benign 0.03
R7531:Ror1 UTSW 4 100,298,388 (GRCm39) missense probably damaging 1.00
R7661:Ror1 UTSW 4 100,298,687 (GRCm39) missense probably damaging 1.00
R7822:Ror1 UTSW 4 100,298,564 (GRCm39) missense probably damaging 1.00
R7831:Ror1 UTSW 4 100,298,295 (GRCm39) missense probably benign 0.01
R8366:Ror1 UTSW 4 100,267,195 (GRCm39) missense possibly damaging 0.91
R8539:Ror1 UTSW 4 100,299,084 (GRCm39) missense possibly damaging 0.71
R8757:Ror1 UTSW 4 100,298,080 (GRCm39) missense probably benign 0.01
R8862:Ror1 UTSW 4 100,191,715 (GRCm39) critical splice donor site probably null
R8913:Ror1 UTSW 4 100,265,027 (GRCm39) missense possibly damaging 0.89
R9382:Ror1 UTSW 4 100,191,709 (GRCm39) missense probably benign 0.00
V7580:Ror1 UTSW 4 100,298,130 (GRCm39) missense probably damaging 0.99
V7583:Ror1 UTSW 4 100,298,130 (GRCm39) missense probably damaging 0.99
X0020:Ror1 UTSW 4 100,283,287 (GRCm39) missense probably benign 0.02
Z1177:Ror1 UTSW 4 100,160,116 (GRCm39) nonsense probably null
Posted On 2014-01-21