Incidental Mutation 'IGL02189:Ror2'
ID283780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ror2
Ensembl Gene ENSMUSG00000021464
Gene Namereceptor tyrosine kinase-like orphan receptor 2
SynonymsNtrkr2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02189
Quality Score
Status
Chromosome13
Chromosomal Location53109312-53286124 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 53110728 bp
ZygosityHeterozygous
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]
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
1700016K19Rik A G 11: 76,000,230 K57E probably damaging Het
9930111J21Rik1 A T 11: 48,947,421 Y780N probably benign Het
Aadacl2 T C 3: 60,025,188 S375P probably damaging Het
Abi1 A C 2: 23,040,064 M1R probably null Het
Acss1 T C 2: 150,629,868 D322G probably damaging Het
Adam22 G A 5: 8,330,029 R90W possibly damaging Het
Agtpbp1 T C 13: 59,500,461 H515R probably benign Het
BC003331 G T 1: 150,372,033 N356K possibly damaging Het
C3 T C 17: 57,220,113 K779E probably benign Het
Cfhr2 A G 1: 139,821,759 Y162H probably damaging Het
Chchd5 T C 2: 129,133,268 probably benign Het
Csmd1 T A 8: 16,271,606 I493F probably damaging Het
Daam1 A T 12: 71,946,285 R349S unknown Het
Dnah11 T C 12: 118,082,579 E1708G probably benign Het
Epg5 A G 18: 78,012,870 D1753G probably damaging Het
Flt4 T G 11: 49,626,003 C206G probably damaging Het
Fscn1 G T 5: 142,960,620 A58S possibly damaging Het
Gapvd1 A T 2: 34,728,544 N272K probably damaging Het
Gem T A 4: 11,706,121 S70T possibly damaging Het
H2-K1 A G 17: 33,999,492 L150P probably damaging Het
Hsd3b3 T A 3: 98,742,138 I290L probably benign Het
Iws1 A G 18: 32,093,125 R689G probably damaging Het
Klk1b22 A G 7: 44,116,206 probably null Het
Klra4 T A 6: 130,044,142 D230V possibly damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Lilra5 A T 7: 4,237,969 M21L probably benign Het
Lrrc20 T A 10: 61,527,108 V44D possibly damaging Het
Mtx1 T G 3: 89,209,317 M426L probably damaging Het
Mylk2 C T 2: 152,915,154 P283L probably damaging Het
Mynn T A 3: 30,613,544 probably benign Het
Olfr1231 A C 2: 89,303,297 C98W probably damaging Het
Parl T A 16: 20,297,703 I116F probably damaging Het
Pdlim3 T C 8: 45,885,593 V5A probably damaging Het
Pld1 G A 3: 28,120,783 V857I probably benign Het
Ptprf T A 4: 118,213,642 probably benign Het
Ptprn A G 1: 75,258,495 S170P possibly damaging Het
Rps27a C A 11: 29,546,772 Q40H probably damaging Het
Ryr3 A T 2: 112,754,838 probably benign Het
Scube3 G T 17: 28,162,996 C332F probably benign Het
Sh3glb2 T C 2: 30,345,339 probably null Het
Sh3tc2 A G 18: 61,990,622 E818G probably benign Het
Slc16a3 G A 11: 120,956,771 V262I probably benign Het
Sptbn1 T A 11: 30,117,871 D1781V probably damaging Het
Ssr1 C T 13: 37,987,516 probably null Het
Tep1 A G 14: 50,826,826 L2442S probably benign Het
Tonsl A T 15: 76,623,178 V94D possibly damaging Het
Ttc22 A T 4: 106,639,157 H468L probably benign Het
Ttc27 C T 17: 74,729,899 T189M probably damaging Het
Ttn T C 2: 76,890,156 probably benign Het
Ttn T G 2: 76,759,895 I21157L probably damaging Het
Vav3 T A 3: 109,525,960 probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Ror2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Ror2 APN 13 53113082 missense probably benign 0.01
IGL01523:Ror2 APN 13 53118963 missense probably benign 0.02
IGL01599:Ror2 APN 13 53111617 missense probably damaging 1.00
IGL01669:Ror2 APN 13 53111088 missense probably damaging 1.00
IGL02016:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02138:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02139:Ror2 APN 13 53111164 missense probably damaging 1.00
IGL02172:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02173:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02176:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02177:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02178:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02179:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02182:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02190:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02203:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02230:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02231:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02234:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02423:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02424:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02478:Ror2 APN 13 53121667 missense probably damaging 1.00
IGL02479:Ror2 APN 13 53131932 missense possibly damaging 0.62
IGL02517:Ror2 APN 13 53118840 missense probably damaging 1.00
IGL02554:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02618:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02619:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02622:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02623:Ror2 APN 13 53110728 missense probably damaging 1.00
willowy UTSW 13 53131919 missense probably damaging 1.00
R0076:Ror2 UTSW 13 53113074 missense probably benign 0.02
R0375:Ror2 UTSW 13 53132004 missense probably damaging 1.00
R0826:Ror2 UTSW 13 53113217 missense probably damaging 1.00
R1823:Ror2 UTSW 13 53110305 missense probably benign 0.07
R1895:Ror2 UTSW 13 53131849 missense probably damaging 1.00
R1946:Ror2 UTSW 13 53131849 missense probably damaging 1.00
R1983:Ror2 UTSW 13 53110408 missense probably benign 0.01
R2031:Ror2 UTSW 13 53117330 missense probably benign 0.01
R2197:Ror2 UTSW 13 53285780 critical splice donor site probably null
R2246:Ror2 UTSW 13 53111602 missense probably damaging 1.00
R2405:Ror2 UTSW 13 53130944 missense possibly damaging 0.67
R2411:Ror2 UTSW 13 53130944 missense possibly damaging 0.67
R2905:Ror2 UTSW 13 53131995 missense probably benign 0.01
R3156:Ror2 UTSW 13 53117364 missense probably damaging 0.98
R4198:Ror2 UTSW 13 53110644 missense probably benign 0.08
R4408:Ror2 UTSW 13 53118961 missense probably damaging 1.00
R4469:Ror2 UTSW 13 53131980 missense possibly damaging 0.87
R4648:Ror2 UTSW 13 53285500 nonsense probably null
R4705:Ror2 UTSW 13 53117297 missense probably benign 0.00
R4824:Ror2 UTSW 13 53110683 missense probably benign 0.10
R4831:Ror2 UTSW 13 53118844 missense probably damaging 0.97
R4951:Ror2 UTSW 13 53117147 missense probably benign 0.00
R4975:Ror2 UTSW 13 53131918 missense probably damaging 1.00
R5380:Ror2 UTSW 13 53117149 missense possibly damaging 0.73
R5469:Ror2 UTSW 13 53117339 missense probably benign 0.00
R5604:Ror2 UTSW 13 53117165 missense probably benign 0.01
R6188:Ror2 UTSW 13 53111311 missense probably damaging 0.98
R6221:Ror2 UTSW 13 53113217 missense probably damaging 1.00
R6243:Ror2 UTSW 13 53113080 missense probably benign
R6255:Ror2 UTSW 13 53110542 missense probably damaging 1.00
R6497:Ror2 UTSW 13 53131919 missense probably damaging 1.00
R6717:Ror2 UTSW 13 53118982 missense probably damaging 1.00
R6918:Ror2 UTSW 13 53111451 missense probably damaging 0.96
R7092:Ror2 UTSW 13 53110236 missense probably benign
R7134:Ror2 UTSW 13 53146706 missense probably benign 0.00
R7254:Ror2 UTSW 13 53118720 missense possibly damaging 0.72
R7517:Ror2 UTSW 13 53110865 missense possibly damaging 0.86
R7560:Ror2 UTSW 13 53110813 missense probably benign 0.05
R7746:Ror2 UTSW 13 53117225 missense probably damaging 1.00
Posted On2015-04-16