Incidental Mutation 'IGL02179:Ror2'
ID 283254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ror2
Ensembl Gene ENSMUSG00000021464
Gene Name receptor tyrosine kinase-like orphan receptor 2
Synonyms Ntrkr2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02179
Quality Score
Status
Chromosome 13
Chromosomal Location 53109312-53286124 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53110728 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 764 (S764N)
Ref Sequence ENSEMBL: ENSMUSP00000123362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021918] [ENSMUST00000130235]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021918
AA Change: S776N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021918
Gene: ENSMUSG00000021464
AA Change: S776N

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
IGc2 74 142 5.23e-16 SMART
Pfam:Fz 174 294 1.2e-12 PFAM
KR 314 396 3.94e-45 SMART
transmembrane domain 403 425 N/A INTRINSIC
TyrKc 473 746 1.96e-113 SMART
low complexity region 765 783 N/A INTRINSIC
low complexity region 788 801 N/A INTRINSIC
low complexity region 839 859 N/A INTRINSIC
low complexity region 860 872 N/A INTRINSIC
low complexity region 905 924 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000130235
AA Change: S764N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123362
Gene: ENSMUSG00000021464
AA Change: S764N

DomainStartEndE-ValueType
IGc2 62 130 5.23e-16 SMART
Pfam:Fz 162 289 3.2e-26 PFAM
KR 302 384 3.94e-45 SMART
transmembrane domain 391 413 N/A INTRINSIC
TyrKc 461 734 1.96e-113 SMART
low complexity region 753 771 N/A INTRINSIC
low complexity region 776 789 N/A INTRINSIC
low complexity region 827 847 N/A INTRINSIC
low complexity region 848 860 N/A INTRINSIC
low complexity region 893 912 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a receptor protein tyrosine kinase and type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors. The protein may be involved in the early formation of the chondrocytes and may be required for cartilage and growth plate development. Mutations in this gene can cause brachydactyly type B, a skeletal disorder characterized by hypoplasia/aplasia of distal phalanges and nails. In addition, mutations in this gene can cause the autosomal recessive form of Robinow syndrome, which is characterized by skeletal dysplasia with generalized limb bone shortening, segmental defects of the spine, brachydactyly, and a dysmorphic facial appearance. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for some disruptions in this gene die within the first few hours after birth. They display respiratory and cardiovascular abnormalities as well as a variety of skeletal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 C A 2: 31,792,249 (GRCm38) A385D probably damaging Het
Ace A G 11: 105,969,789 (GRCm38) D174G probably benign Het
Aldh1l2 A G 10: 83,522,837 (GRCm38) V98A probably benign Het
AU040320 T A 4: 126,835,612 (GRCm38) F522L probably benign Het
Ccdc73 A G 2: 104,907,568 (GRCm38) D3G probably damaging Het
Cdk14 A C 5: 5,103,845 (GRCm38) L199V probably damaging Het
Cdk15 G T 1: 59,330,941 (GRCm38) A381S possibly damaging Het
Cyb5a A G 18: 84,873,155 (GRCm38) I68V probably benign Het
Dock5 G A 14: 67,806,496 (GRCm38) probably benign Het
Fbxw24 T A 9: 109,609,905 (GRCm38) K201* probably null Het
Gm5852 C T 3: 93,727,716 (GRCm38) noncoding transcript Het
Gsdma3 A G 11: 98,635,271 (GRCm38) K274E possibly damaging Het
Hoxa7 T A 6: 52,215,874 (GRCm38) Q178L probably damaging Het
Itgae G T 11: 73,134,018 (GRCm38) V992L probably benign Het
Klk1b26 A G 7: 44,016,312 (GRCm38) N183D probably benign Het
Krt39 A T 11: 99,520,841 (GRCm38) S140T probably damaging Het
Lama2 G A 10: 27,070,364 (GRCm38) T1953I probably benign Het
Mmp1a G A 9: 7,464,273 (GRCm38) R26Q probably benign Het
Myh7b A C 2: 155,614,491 (GRCm38) I175L probably benign Het
Nol11 A G 11: 107,189,256 (GRCm38) M1T probably null Het
Nrxn1 T A 17: 90,630,083 (GRCm38) I641F probably damaging Het
Olfr1047 A T 2: 86,228,247 (GRCm38) C241* probably null Het
Olfr1501 T C 19: 13,838,487 (GRCm38) T229A probably benign Het
Olfr610 A C 7: 103,506,727 (GRCm38) L73R probably damaging Het
Parn G T 16: 13,667,592 (GRCm38) H13Q probably benign Het
Pcnx T C 12: 81,933,719 (GRCm38) probably benign Het
Pdcd10 T C 3: 75,527,615 (GRCm38) D60G probably damaging Het
Phka2 G A X: 160,554,380 (GRCm38) probably null Het
Ppargc1a A T 5: 51,473,711 (GRCm38) D525E possibly damaging Het
Rad54l2 C A 9: 106,720,390 (GRCm38) R139L probably damaging Het
Rnf20 T C 4: 49,638,712 (GRCm38) V178A probably benign Het
Sdccag8 C T 1: 176,878,056 (GRCm38) H479Y probably benign Het
Taf8 T C 17: 47,502,233 (GRCm38) T13A probably benign Het
Ttc8 T C 12: 98,964,537 (GRCm38) L270P possibly damaging Het
Ttn G A 2: 76,887,368 (GRCm38) Q365* probably null Het
Uchl1 A G 5: 66,676,294 (GRCm38) Q2R probably benign Het
Ufl1 A G 4: 25,254,896 (GRCm38) V440A probably damaging Het
Other mutations in Ror2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Ror2 APN 13 53,113,082 (GRCm38) missense probably benign 0.01
IGL01523:Ror2 APN 13 53,118,963 (GRCm38) missense probably benign 0.02
IGL01599:Ror2 APN 13 53,111,617 (GRCm38) missense probably damaging 1.00
IGL01669:Ror2 APN 13 53,111,088 (GRCm38) missense probably damaging 1.00
IGL02016:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02138:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02139:Ror2 APN 13 53,111,164 (GRCm38) missense probably damaging 1.00
IGL02172:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02173:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02176:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02177:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02178:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02182:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02189:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02190:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02203:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02230:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02231:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02234:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02423:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02424:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02478:Ror2 APN 13 53,121,667 (GRCm38) missense probably damaging 1.00
IGL02479:Ror2 APN 13 53,131,932 (GRCm38) missense possibly damaging 0.62
IGL02517:Ror2 APN 13 53,118,840 (GRCm38) missense probably damaging 1.00
IGL02554:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02618:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02619:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02622:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
IGL02623:Ror2 APN 13 53,110,728 (GRCm38) missense probably damaging 1.00
lavage UTSW 13 53,118,982 (GRCm38) missense probably damaging 1.00
tendrils UTSW 13 53,111,451 (GRCm38) missense probably damaging 0.96
willowy UTSW 13 53,131,919 (GRCm38) missense probably damaging 1.00
R0076:Ror2 UTSW 13 53,113,074 (GRCm38) missense probably benign 0.02
R0375:Ror2 UTSW 13 53,132,004 (GRCm38) missense probably damaging 1.00
R0826:Ror2 UTSW 13 53,113,217 (GRCm38) missense probably damaging 1.00
R1823:Ror2 UTSW 13 53,110,305 (GRCm38) missense probably benign 0.07
R1895:Ror2 UTSW 13 53,131,849 (GRCm38) missense probably damaging 1.00
R1946:Ror2 UTSW 13 53,131,849 (GRCm38) missense probably damaging 1.00
R1983:Ror2 UTSW 13 53,110,408 (GRCm38) missense probably benign 0.01
R2031:Ror2 UTSW 13 53,117,330 (GRCm38) missense probably benign 0.01
R2197:Ror2 UTSW 13 53,285,780 (GRCm38) critical splice donor site probably null
R2246:Ror2 UTSW 13 53,111,602 (GRCm38) missense probably damaging 1.00
R2405:Ror2 UTSW 13 53,130,944 (GRCm38) missense possibly damaging 0.67
R2411:Ror2 UTSW 13 53,130,944 (GRCm38) missense possibly damaging 0.67
R2905:Ror2 UTSW 13 53,131,995 (GRCm38) missense probably benign 0.01
R3156:Ror2 UTSW 13 53,117,364 (GRCm38) missense probably damaging 0.98
R4198:Ror2 UTSW 13 53,110,644 (GRCm38) missense probably benign 0.08
R4408:Ror2 UTSW 13 53,118,961 (GRCm38) missense probably damaging 1.00
R4469:Ror2 UTSW 13 53,131,980 (GRCm38) missense possibly damaging 0.87
R4648:Ror2 UTSW 13 53,285,500 (GRCm38) nonsense probably null
R4705:Ror2 UTSW 13 53,117,297 (GRCm38) missense probably benign 0.00
R4824:Ror2 UTSW 13 53,110,683 (GRCm38) missense probably benign 0.10
R4831:Ror2 UTSW 13 53,118,844 (GRCm38) missense probably damaging 0.97
R4951:Ror2 UTSW 13 53,117,147 (GRCm38) missense probably benign 0.00
R4975:Ror2 UTSW 13 53,131,918 (GRCm38) missense probably damaging 1.00
R5380:Ror2 UTSW 13 53,117,149 (GRCm38) missense possibly damaging 0.73
R5469:Ror2 UTSW 13 53,117,339 (GRCm38) missense probably benign 0.00
R5604:Ror2 UTSW 13 53,117,165 (GRCm38) missense probably benign 0.01
R6188:Ror2 UTSW 13 53,111,311 (GRCm38) missense probably damaging 0.98
R6221:Ror2 UTSW 13 53,113,217 (GRCm38) missense probably damaging 1.00
R6243:Ror2 UTSW 13 53,113,080 (GRCm38) missense probably benign
R6255:Ror2 UTSW 13 53,110,542 (GRCm38) missense probably damaging 1.00
R6497:Ror2 UTSW 13 53,131,919 (GRCm38) missense probably damaging 1.00
R6717:Ror2 UTSW 13 53,118,982 (GRCm38) missense probably damaging 1.00
R6918:Ror2 UTSW 13 53,111,451 (GRCm38) missense probably damaging 0.96
R7092:Ror2 UTSW 13 53,110,236 (GRCm38) missense probably benign
R7134:Ror2 UTSW 13 53,146,706 (GRCm38) missense probably benign 0.00
R7254:Ror2 UTSW 13 53,118,720 (GRCm38) missense possibly damaging 0.72
R7517:Ror2 UTSW 13 53,110,865 (GRCm38) missense possibly damaging 0.86
R7560:Ror2 UTSW 13 53,110,813 (GRCm38) missense probably benign 0.05
R7746:Ror2 UTSW 13 53,117,225 (GRCm38) missense probably damaging 1.00
R8031:Ror2 UTSW 13 53,113,157 (GRCm38) missense probably damaging 1.00
R8479:Ror2 UTSW 13 53,117,364 (GRCm38) missense probably damaging 0.98
R8684:Ror2 UTSW 13 53,110,266 (GRCm38) missense possibly damaging 0.90
R8834:Ror2 UTSW 13 53,110,302 (GRCm38) small deletion probably benign
R8948:Ror2 UTSW 13 53,131,996 (GRCm38) missense possibly damaging 0.67
R9233:Ror2 UTSW 13 53,111,554 (GRCm38) missense probably benign
R9234:Ror2 UTSW 13 53,111,338 (GRCm38) missense probably damaging 1.00
R9573:Ror2 UTSW 13 53,111,431 (GRCm38) missense probably benign
R9665:Ror2 UTSW 13 53,285,525 (GRCm38) start codon destroyed probably null
Posted On 2015-04-16