Incidental Mutation 'IGL02189:Ror2'
ID 283780
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 # IGL02189
Quality Score
Status
Chromosome 13
Chromosomal Location 53263353-53440160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53264764 bp (GRCm39)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A T 11: 48,838,248 (GRCm39) Y780N probably benign Het
Aadacl2 T C 3: 59,932,609 (GRCm39) S375P probably damaging Het
Abi1 A C 2: 22,930,076 (GRCm39) M1R probably null Het
Acss1 T C 2: 150,471,788 (GRCm39) D322G probably damaging Het
Adam22 G A 5: 8,380,029 (GRCm39) R90W possibly damaging Het
Agtpbp1 T C 13: 59,648,275 (GRCm39) H515R probably benign Het
C3 T C 17: 57,527,113 (GRCm39) K779E probably benign Het
Cfhr2 A G 1: 139,749,497 (GRCm39) Y162H probably damaging Het
Chchd5 T C 2: 128,975,188 (GRCm39) probably benign Het
Csmd1 T A 8: 16,321,620 (GRCm39) I493F probably damaging Het
Daam1 A T 12: 71,993,059 (GRCm39) R349S unknown Het
Dnah11 T C 12: 118,046,314 (GRCm39) E1708G probably benign Het
Epg5 A G 18: 78,056,085 (GRCm39) D1753G probably damaging Het
Flt4 T G 11: 49,516,830 (GRCm39) C206G probably damaging Het
Fscn1 G T 5: 142,946,375 (GRCm39) A58S possibly damaging Het
Gapvd1 A T 2: 34,618,556 (GRCm39) N272K probably damaging Het
Gem T A 4: 11,706,121 (GRCm39) S70T possibly damaging Het
H2-K2 A G 17: 34,218,466 (GRCm39) L150P probably damaging Het
Hsd3b3 T A 3: 98,649,454 (GRCm39) I290L probably benign Het
Iws1 A G 18: 32,226,178 (GRCm39) R689G probably damaging Het
Klk1b22 A G 7: 43,765,630 (GRCm39) probably null Het
Klra4 T A 6: 130,021,105 (GRCm39) D230V possibly damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Liat1 A G 11: 75,891,056 (GRCm39) K57E probably damaging Het
Lilra5 A T 7: 4,240,968 (GRCm39) M21L probably benign Het
Lrrc20 T A 10: 61,362,887 (GRCm39) V44D possibly damaging Het
Mtx1 T G 3: 89,116,624 (GRCm39) M426L probably damaging Het
Mylk2 C T 2: 152,757,074 (GRCm39) P283L probably damaging Het
Mynn T A 3: 30,667,693 (GRCm39) probably benign Het
Odr4 G T 1: 150,247,784 (GRCm39) N356K possibly damaging Het
Or4c1 A C 2: 89,133,641 (GRCm39) C98W probably damaging Het
Parl T A 16: 20,116,453 (GRCm39) I116F probably damaging Het
Pdlim3 T C 8: 46,338,630 (GRCm39) V5A probably damaging Het
Pld1 G A 3: 28,174,932 (GRCm39) V857I probably benign Het
Ptprf T A 4: 118,070,839 (GRCm39) probably benign Het
Ptprn A G 1: 75,235,139 (GRCm39) S170P possibly damaging Het
Rps27a C A 11: 29,496,772 (GRCm39) Q40H probably damaging Het
Ryr3 A T 2: 112,585,183 (GRCm39) probably benign Het
Scube3 G T 17: 28,381,970 (GRCm39) C332F probably benign Het
Sh3glb2 T C 2: 30,235,351 (GRCm39) probably null Het
Sh3tc2 A G 18: 62,123,693 (GRCm39) E818G probably benign Het
Slc16a3 G A 11: 120,847,597 (GRCm39) V262I probably benign Het
Sptbn1 T A 11: 30,067,871 (GRCm39) D1781V probably damaging Het
Ssr1 C T 13: 38,171,492 (GRCm39) probably null Het
Tep1 A G 14: 51,064,283 (GRCm39) L2442S probably benign Het
Tonsl A T 15: 76,507,378 (GRCm39) V94D possibly damaging Het
Ttc22 A T 4: 106,496,354 (GRCm39) H468L probably benign Het
Ttc27 C T 17: 75,036,894 (GRCm39) T189M probably damaging Het
Ttn T C 2: 76,720,500 (GRCm39) probably benign Het
Ttn T G 2: 76,590,239 (GRCm39) I21157L probably damaging Het
Vav3 T A 3: 109,433,276 (GRCm39) probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Ror2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Ror2 APN 13 53,267,118 (GRCm39) missense probably benign 0.01
IGL01523:Ror2 APN 13 53,272,999 (GRCm39) missense probably benign 0.02
IGL01599:Ror2 APN 13 53,265,653 (GRCm39) missense probably damaging 1.00
IGL01669:Ror2 APN 13 53,265,124 (GRCm39) missense probably damaging 1.00
IGL02016:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02138:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02139:Ror2 APN 13 53,265,200 (GRCm39) missense probably damaging 1.00
IGL02172:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02173:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02176:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02177:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02178:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02179:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02182:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02190:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02203:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02230:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02231:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02234:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02423:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02424:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02478:Ror2 APN 13 53,275,703 (GRCm39) missense probably damaging 1.00
IGL02479:Ror2 APN 13 53,285,968 (GRCm39) missense possibly damaging 0.62
IGL02517:Ror2 APN 13 53,272,876 (GRCm39) missense probably damaging 1.00
IGL02554:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02618:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02619:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02622:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
IGL02623:Ror2 APN 13 53,264,764 (GRCm39) missense probably damaging 1.00
lavage UTSW 13 53,273,018 (GRCm39) missense probably damaging 1.00
tendrils UTSW 13 53,265,487 (GRCm39) missense probably damaging 0.96
willowy UTSW 13 53,285,955 (GRCm39) missense probably damaging 1.00
R0076:Ror2 UTSW 13 53,267,110 (GRCm39) missense probably benign 0.02
R0375:Ror2 UTSW 13 53,286,040 (GRCm39) missense probably damaging 1.00
R0826:Ror2 UTSW 13 53,267,253 (GRCm39) missense probably damaging 1.00
R1823:Ror2 UTSW 13 53,264,341 (GRCm39) missense probably benign 0.07
R1895:Ror2 UTSW 13 53,285,885 (GRCm39) missense probably damaging 1.00
R1946:Ror2 UTSW 13 53,285,885 (GRCm39) missense probably damaging 1.00
R1983:Ror2 UTSW 13 53,264,444 (GRCm39) missense probably benign 0.01
R2031:Ror2 UTSW 13 53,271,366 (GRCm39) missense probably benign 0.01
R2197:Ror2 UTSW 13 53,439,816 (GRCm39) critical splice donor site probably null
R2246:Ror2 UTSW 13 53,265,638 (GRCm39) missense probably damaging 1.00
R2405:Ror2 UTSW 13 53,284,980 (GRCm39) missense possibly damaging 0.67
R2411:Ror2 UTSW 13 53,284,980 (GRCm39) missense possibly damaging 0.67
R2905:Ror2 UTSW 13 53,286,031 (GRCm39) missense probably benign 0.01
R3156:Ror2 UTSW 13 53,271,400 (GRCm39) missense probably damaging 0.98
R4198:Ror2 UTSW 13 53,264,680 (GRCm39) missense probably benign 0.08
R4408:Ror2 UTSW 13 53,272,997 (GRCm39) missense probably damaging 1.00
R4469:Ror2 UTSW 13 53,286,016 (GRCm39) missense possibly damaging 0.87
R4648:Ror2 UTSW 13 53,439,536 (GRCm39) nonsense probably null
R4705:Ror2 UTSW 13 53,271,333 (GRCm39) missense probably benign 0.00
R4824:Ror2 UTSW 13 53,264,719 (GRCm39) missense probably benign 0.10
R4831:Ror2 UTSW 13 53,272,880 (GRCm39) missense probably damaging 0.97
R4951:Ror2 UTSW 13 53,271,183 (GRCm39) missense probably benign 0.00
R4975:Ror2 UTSW 13 53,285,954 (GRCm39) missense probably damaging 1.00
R5380:Ror2 UTSW 13 53,271,185 (GRCm39) missense possibly damaging 0.73
R5469:Ror2 UTSW 13 53,271,375 (GRCm39) missense probably benign 0.00
R5604:Ror2 UTSW 13 53,271,201 (GRCm39) missense probably benign 0.01
R6188:Ror2 UTSW 13 53,265,347 (GRCm39) missense probably damaging 0.98
R6221:Ror2 UTSW 13 53,267,253 (GRCm39) missense probably damaging 1.00
R6243:Ror2 UTSW 13 53,267,116 (GRCm39) missense probably benign
R6255:Ror2 UTSW 13 53,264,578 (GRCm39) missense probably damaging 1.00
R6497:Ror2 UTSW 13 53,285,955 (GRCm39) missense probably damaging 1.00
R6717:Ror2 UTSW 13 53,273,018 (GRCm39) missense probably damaging 1.00
R6918:Ror2 UTSW 13 53,265,487 (GRCm39) missense probably damaging 0.96
R7092:Ror2 UTSW 13 53,264,272 (GRCm39) missense probably benign
R7134:Ror2 UTSW 13 53,300,742 (GRCm39) missense probably benign 0.00
R7254:Ror2 UTSW 13 53,272,756 (GRCm39) missense possibly damaging 0.72
R7517:Ror2 UTSW 13 53,264,901 (GRCm39) missense possibly damaging 0.86
R7560:Ror2 UTSW 13 53,264,849 (GRCm39) missense probably benign 0.05
R7746:Ror2 UTSW 13 53,271,261 (GRCm39) missense probably damaging 1.00
R8031:Ror2 UTSW 13 53,267,193 (GRCm39) missense probably damaging 1.00
R8479:Ror2 UTSW 13 53,271,400 (GRCm39) missense probably damaging 0.98
R8684:Ror2 UTSW 13 53,264,302 (GRCm39) missense possibly damaging 0.90
R8834:Ror2 UTSW 13 53,264,338 (GRCm39) small deletion probably benign
R8948:Ror2 UTSW 13 53,286,032 (GRCm39) missense possibly damaging 0.67
R9233:Ror2 UTSW 13 53,265,590 (GRCm39) missense probably benign
R9234:Ror2 UTSW 13 53,265,374 (GRCm39) missense probably damaging 1.00
R9573:Ror2 UTSW 13 53,265,467 (GRCm39) missense probably benign
R9665:Ror2 UTSW 13 53,439,561 (GRCm39) start codon destroyed probably null
Posted On 2015-04-16