Incidental Mutation 'R6243:Ror2'
ID 505402
Institutional Source Beutler Lab
Gene Symbol Ror2
Ensembl Gene ENSMUSG00000021464
Gene Name receptor tyrosine kinase-like orphan receptor 2
Synonyms Ntrkr2
MMRRC Submission 044365-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6243 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 53263353-53440160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53267116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 440 (M440L)
Ref Sequence ENSEMBL: ENSMUSP00000123362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021918] [ENSMUST00000130235]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021918
AA Change: M452L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021918
Gene: ENSMUSG00000021464
AA Change: M452L

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 benign
Transcript: ENSMUST00000130235
AA Change: M440L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000123362
Gene: ENSMUSG00000021464
AA Change: M440L

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
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 99% (73/74)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T C 13: 104,450,809 (GRCm39) S331P probably damaging Het
Akap9 T G 5: 4,115,000 (GRCm39) probably null Het
Ankef1 A G 2: 136,379,077 (GRCm39) E9G probably damaging Het
Ap1g2 T C 14: 55,336,530 (GRCm39) E788G probably benign Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Asrgl1 A T 19: 9,093,868 (GRCm39) I220K probably damaging Het
Atg16l2 A C 7: 100,941,536 (GRCm39) *404E probably null Het
Atp4a T C 7: 30,415,382 (GRCm39) F334S possibly damaging Het
Atp6v0d1 T C 8: 106,292,495 (GRCm39) E17G probably benign Het
Bcat2 T C 7: 45,237,691 (GRCm39) V279A probably benign Het
Birc6 T G 17: 74,916,382 (GRCm39) M459R probably damaging Het
Bsn T C 9: 107,984,760 (GRCm39) Y3098C unknown Het
Btaf1 T A 19: 36,958,520 (GRCm39) M679K probably benign Het
Cirop T A 14: 54,933,216 (GRCm39) R322S probably damaging Het
Col6a4 T C 9: 105,890,589 (GRCm39) T1902A possibly damaging Het
Crhr1 G A 11: 104,064,740 (GRCm39) C364Y probably damaging Het
Crmp1 T C 5: 37,446,288 (GRCm39) L648P probably damaging Het
Cyfip1 T C 7: 55,550,277 (GRCm39) Y671H probably damaging Het
Cyp2b13 C T 7: 25,761,044 (GRCm39) P34S probably damaging Het
Dnajb6 T A 5: 29,986,131 (GRCm39) V233E probably benign Het
Dnhd1 A T 7: 105,301,216 (GRCm39) H191L probably damaging Het
Dsg3 T A 18: 20,672,781 (GRCm39) D817E probably damaging Het
Dytn T C 1: 63,686,680 (GRCm39) Q330R possibly damaging Het
Fads1 G T 19: 10,163,091 (GRCm39) E123* probably null Het
Fchsd2 T C 7: 100,921,016 (GRCm39) probably benign Het
Fmo9 T C 1: 166,494,938 (GRCm39) E270G probably benign Het
Folr1 T A 7: 101,513,172 (GRCm39) H41L probably damaging Het
Gm7298 A G 6: 121,756,096 (GRCm39) N985S possibly damaging Het
Gp1ba T C 11: 70,530,963 (GRCm39) probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Igf2bp3 A T 6: 49,084,362 (GRCm39) N285K possibly damaging Het
Lca5l G A 16: 95,980,112 (GRCm39) T6I possibly damaging Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Mpeg1 A G 19: 12,439,604 (GRCm39) H354R probably benign Het
Msh6 T A 17: 88,290,999 (GRCm39) V195E possibly damaging Het
Mtfmt C T 9: 65,351,182 (GRCm39) T243I probably benign Het
Myo1h T A 5: 114,500,208 (GRCm39) I195K probably damaging Het
Nr1h5 T C 3: 102,856,380 (GRCm39) K300E probably benign Het
Nuak2 T C 1: 132,260,105 (GRCm39) S628P probably benign Het
Nup214 G T 2: 31,892,944 (GRCm39) A721S possibly damaging Het
Or12e13 A G 2: 87,663,385 (GRCm39) M1V probably null Het
Or5d47 A G 2: 87,804,931 (GRCm39) V26A probably benign Het
Pclo T C 5: 14,726,457 (GRCm39) probably benign Het
Phf20 A G 2: 156,065,320 (GRCm39) S12G probably benign Het
Pik3r5 T C 11: 68,382,826 (GRCm39) Y289H probably damaging Het
Pld1 T C 3: 28,149,954 (GRCm39) I717T probably damaging Het
Plxdc1 A G 11: 97,846,299 (GRCm39) Y182H probably damaging Het
Ppid A G 3: 79,510,373 (GRCm39) I354V probably benign Het
Prss2 T C 6: 41,501,387 (GRCm39) V152A probably benign Het
Rab28 C T 5: 41,793,223 (GRCm39) A141T probably benign Het
Rabgap1l C T 1: 160,472,877 (GRCm39) probably null Het
Rabl6 T G 2: 25,475,415 (GRCm39) S553R probably damaging Het
Rars1 A G 11: 35,717,374 (GRCm39) F170S possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Rsph4a A T 10: 33,785,139 (GRCm39) Q350L probably damaging Het
Serpinb2 T C 1: 107,450,869 (GRCm39) F204L probably damaging Het
Sertad4 T C 1: 192,533,257 (GRCm39) probably null Het
Shisa3 C T 5: 67,768,486 (GRCm39) P129S probably benign Het
Slc13a2 G A 11: 78,295,534 (GRCm39) L111F probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Stab2 T A 10: 86,743,025 (GRCm39) R1195W probably damaging Het
Syna C A 5: 134,588,968 (GRCm39) probably benign Het
Thada A T 17: 84,744,030 (GRCm39) D759E probably benign Het
Thoc5 A G 11: 4,869,753 (GRCm39) Y385C possibly damaging Het
Thsd7a C T 6: 12,327,601 (GRCm39) D1424N probably damaging Het
Thsd7b A T 1: 130,090,599 (GRCm39) Q1204L probably benign Het
Tnfrsf8 T C 4: 145,029,671 (GRCm39) N43S possibly damaging Het
Trim66 T C 7: 109,059,481 (GRCm39) K921R probably benign Het
Uaca G A 9: 60,777,326 (GRCm39) R571Q probably damaging Het
Ugt2a2 T G 5: 87,610,818 (GRCm39) K339N probably benign Het
Vmn2r8 T C 5: 108,947,211 (GRCm39) T514A probably benign Het
Wrn A T 8: 33,774,682 (GRCm39) M652K possibly damaging Het
Yme1l1 A T 2: 23,083,184 (GRCm39) Y550F probably benign Het
Zfp995 G A 17: 22,099,269 (GRCm39) P322S probably damaging 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
IGL02189: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
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
Predicted Primers PCR Primer
(F):5'- GCCTATGTATGCTTGCCTGC -3'
(R):5'- AAGCTCACAAGTCCCCTCTG -3'

Sequencing Primer
(F):5'- ATGCTTGCCTGCTGAGAC -3'
(R):5'- ACAAGTCCCCTCTGTGGTAC -3'
Posted On 2018-02-28