Incidental Mutation 'IGL00939:Ror1'
ID 27268
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 # IGL00939
Quality Score
Status
Chromosome 4
Chromosomal Location 99952988-100301962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100298423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 599 (I599V)
Ref Sequence ENSEMBL: ENSMUSP00000048171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039630]
AlphaFold Q9Z139
Predicted Effect probably benign
Transcript: ENSMUST00000039630
AA Change: I599V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: I599V

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 C A 5: 35,981,359 (GRCm39) probably benign Het
Ash1l T C 3: 88,942,543 (GRCm39) V2061A probably damaging Het
Csnk1a1 A G 18: 61,708,521 (GRCm39) D194G probably damaging Het
Dop1b T A 16: 93,570,971 (GRCm39) S1657T possibly damaging Het
Hcn4 A G 9: 58,751,210 (GRCm39) I279V probably benign Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Lamb1 T C 12: 31,352,926 (GRCm39) S828P probably damaging Het
Morc1 G A 16: 48,272,952 (GRCm39) C193Y probably damaging Het
Nudt16l1 T C 16: 4,757,299 (GRCm39) F71L probably benign Het
Nup50 T G 15: 84,822,621 (GRCm39) L381* probably null Het
Pccb A G 9: 100,867,922 (GRCm39) S372P probably damaging Het
Rnf19b A G 4: 128,965,582 (GRCm39) R227G probably damaging Het
Sipa1l2 A G 8: 126,191,174 (GRCm39) probably benign Het
Sowahb A T 5: 93,191,701 (GRCm39) D339E probably benign Het
Ssc5d C T 7: 4,939,280 (GRCm39) T572I possibly damaging Het
Tnn A G 1: 159,975,100 (GRCm39) L109P probably damaging Het
Ttn T C 2: 76,540,425 (GRCm39) Q34187R possibly damaging Het
Ube2j2 A G 4: 156,040,904 (GRCm39) E177G possibly damaging Het
Vmn2r103 A G 17: 20,015,227 (GRCm39) T456A probably benign Het
Wdr1 T C 5: 38,692,666 (GRCm39) T80A probably benign Het
Other mutations in Ror1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Ror1 APN 4 100,190,940 (GRCm39) missense probably damaging 1.00
IGL01408:Ror1 APN 4 100,190,984 (GRCm39) missense probably damaging 1.00
IGL01678:Ror1 APN 4 100,283,165 (GRCm39) missense possibly damaging 0.68
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 2013-04-17