Incidental Mutation 'R4975:Ror2'
ID 382594
Institutional Source Beutler Lab
Gene Symbol Ror2
Ensembl Gene ENSMUSG00000021464
Gene Name receptor tyrosine kinase-like orphan receptor 2
Synonyms Ntrkr2
MMRRC Submission 042570-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4975 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 53263353-53440160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53285954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 87 (D87N)
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: D99N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021918
Gene: ENSMUSG00000021464
AA Change: D99N

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: D87N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123362
Gene: ENSMUSG00000021464
AA Change: D87N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149299
Meta Mutation Damage Score 0.3000 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 92.8%
Validation Efficiency 100% (81/81)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A C 3: 59,840,161 (GRCm39) T78P probably damaging Het
Abcc8 T C 7: 45,800,291 (GRCm39) K497R probably damaging Het
Aldh1a3 C T 7: 66,068,927 (GRCm39) R19Q possibly damaging Het
Bmp2k A G 5: 97,234,944 (GRCm39) probably benign Het
Ccni A T 5: 93,335,553 (GRCm39) L195Q possibly damaging Het
Cdkl4 C A 17: 80,832,764 (GRCm39) G327* probably null Het
Cdsn T C 17: 35,866,326 (GRCm39) V285A possibly damaging Het
Cfap20dc A G 14: 8,518,736 (GRCm38) V240A probably benign Het
Chtf18 T C 17: 25,943,540 (GRCm39) E352G possibly damaging Het
Clasp2 T A 9: 113,732,984 (GRCm39) I961N probably damaging Het
Cpsf2 A G 12: 101,949,752 (GRCm39) Q128R probably damaging Het
Cttnbp2 C A 6: 18,406,525 (GRCm39) Q1055H possibly damaging Het
Cyld T G 8: 89,433,860 (GRCm39) F216L probably benign Het
Cyp3a41a A G 5: 145,656,858 (GRCm39) M1T probably null Het
Disp3 C T 4: 148,328,673 (GRCm39) R1097H possibly damaging Het
Dmap1 T C 4: 117,538,233 (GRCm39) D67G possibly damaging Het
Dnah8 T C 17: 30,875,959 (GRCm39) F529L probably benign Het
Ergic3 T C 2: 155,859,638 (GRCm39) probably null Het
Fkbp14 A G 6: 54,569,943 (GRCm39) I29T probably benign Het
Gm4845 T A 1: 141,184,623 (GRCm39) noncoding transcript Het
Gm7135 A T 1: 97,281,801 (GRCm39) noncoding transcript Het
Gpbar1 TACCAC TAC 1: 74,318,704 (GRCm39) probably benign Het
Gtf2ird1 T A 5: 134,424,481 (GRCm39) I57F probably damaging Het
Hectd1 A G 12: 51,809,280 (GRCm39) V1722A probably benign Het
Hmcn2 A G 2: 31,283,037 (GRCm39) D1971G possibly damaging Het
Il21 C A 3: 37,286,653 (GRCm39) S21I probably damaging Het
Itih4 T A 14: 30,614,244 (GRCm39) I398N probably damaging Het
Kansl1 A T 11: 104,226,390 (GRCm39) S922R probably damaging Het
Krt27 G A 11: 99,237,722 (GRCm39) Q339* probably null Het
Lama1 C A 17: 68,045,829 (GRCm39) L245I possibly damaging Het
Lmo2 T A 2: 103,806,488 (GRCm39) C60* probably null Het
Med16 A G 10: 79,738,839 (GRCm39) S316P possibly damaging Het
Mia3 T C 1: 183,111,970 (GRCm39) N529S probably benign Het
Msi2 T C 11: 88,285,481 (GRCm39) K188E probably damaging Het
Myh7 T C 14: 55,209,128 (GRCm39) K1870R probably damaging Het
Nhlrc1 A G 13: 47,167,216 (GRCm39) V347A probably benign Het
Nol6 C T 4: 41,120,167 (GRCm39) R487H probably benign Het
Or4c117 T C 2: 88,955,682 (GRCm39) Y131C probably damaging Het
Or4k41 T C 2: 111,280,028 (GRCm39) I181T probably benign Het
Or52h1 A T 7: 103,828,736 (GRCm39) V293D probably damaging Het
Or5d18 T C 2: 87,865,005 (GRCm39) I159M probably benign Het
Or6c205 T C 10: 129,087,141 (GRCm39) I246T probably damaging Het
Otog T C 7: 45,937,415 (GRCm39) V1708A probably benign Het
Ptprv A G 1: 135,046,586 (GRCm39) noncoding transcript Het
Pus7l A G 15: 94,427,369 (GRCm39) V471A possibly damaging Het
Rab11fip4 A G 11: 79,510,497 (GRCm39) R68G probably damaging Het
Ralgapb A G 2: 158,277,428 (GRCm39) D264G possibly damaging Het
Reln A G 5: 22,165,424 (GRCm39) S2045P probably damaging Het
Rgs22 A C 15: 36,055,022 (GRCm39) Y593* probably null Het
Rps6ka4 A T 19: 6,817,678 (GRCm39) probably null Het
Rttn T A 18: 89,082,209 (GRCm39) probably null Het
Runx3 A G 4: 134,898,446 (GRCm39) T206A probably benign Het
Setx A G 2: 29,054,562 (GRCm39) E2158G probably damaging Het
Siglece C T 7: 43,308,396 (GRCm39) probably null Het
Slco1a8 T C 6: 141,926,599 (GRCm39) S576G probably benign Het
Snx1 A T 9: 66,012,187 (GRCm39) L96* probably null Het
Srrm1 A G 4: 135,074,031 (GRCm39) probably benign Het
Stk39 A T 2: 68,051,336 (GRCm39) probably benign Het
Sun3 G A 11: 8,988,311 (GRCm39) R4* probably null Het
Svil A G 18: 5,054,025 (GRCm39) K347E possibly damaging Het
Sybu T A 15: 44,541,063 (GRCm39) E333V probably damaging Het
Tet2 A G 3: 133,192,520 (GRCm39) probably benign Het
Tfip11 G T 5: 112,483,613 (GRCm39) probably benign Het
Tmc1 A C 19: 20,884,319 (GRCm39) D40E probably damaging Het
Twf2 G T 9: 106,089,539 (GRCm39) G121W probably damaging Het
Vpreb3 A G 10: 75,775,636 (GRCm39) V50A probably damaging Het
Vps8 T A 16: 21,285,219 (GRCm39) L400Q probably damaging Het
Xylt1 A T 7: 117,266,565 (GRCm39) Y861F probably damaging Het
Zfp608 T G 18: 55,022,962 (GRCm39) T1485P probably damaging Het
Zfp619 T G 7: 39,186,504 (GRCm39) S845A possibly damaging Het
Zscan4d A T 7: 10,899,274 (GRCm39) M1K 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGCACTGTGAATGCTATCTG -3'
(R):5'- TGCTCAGGATGGTCACACAG -3'

Sequencing Primer
(F):5'- TGCTGTCCACACTCACCGAG -3'
(R):5'- ATGGTCACACAGGAGCCCAG -3'
Posted On 2016-04-27