Incidental Mutation 'IGL02178:Ror2'
ID283206
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 #IGL02178
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,662,461 T516S possibly damaging Het
6820408C15Rik T C 2: 152,428,001 probably benign Het
Ak5 T C 3: 152,526,785 D331G probably benign Het
Ar A G X: 98,305,438 D675G probably damaging Het
Arhgap23 A G 11: 97,452,353 D276G probably benign Het
Arhgef3 C T 14: 27,265,529 R40* probably null Het
Atp1b4 G T X: 38,332,818 R293L possibly damaging Het
Borcs8 T C 8: 70,165,247 L85P probably damaging Het
Carmil1 T G 13: 24,094,403 K194N probably damaging Het
Catsper4 T A 4: 134,227,326 K4N probably benign Het
Ccdc30 T C 4: 119,349,724 probably benign Het
Cd101 A G 3: 100,993,766 S997P probably damaging Het
Cdkl5 G A X: 160,816,893 T792I probably benign Het
Cep135 A G 5: 76,595,474 Y185C probably damaging Het
Clcn5 A G X: 7,186,324 Y59H possibly damaging Het
Col6a1 A T 10: 76,711,075 I771N unknown Het
Crispld1 C T 1: 17,762,103 probably benign Het
Fam109b T A 15: 82,343,326 D15E possibly damaging Het
Fbxl13 A G 5: 21,620,720 I128T possibly damaging Het
Gga1 T A 15: 78,892,047 M430K probably benign Het
Has2 A G 15: 56,682,060 Y49H probably damaging Het
Ivd A G 2: 118,871,434 I116V probably benign Het
Krt75 T C 15: 101,572,791 N183D probably benign Het
Map3k9 A T 12: 81,743,837 I314N probably damaging Het
Map6d1 T G 16: 20,236,698 E129D probably damaging Het
Mettl22 T C 16: 8,478,282 V145A probably benign Het
Muc5ac T A 7: 141,805,447 probably benign Het
Mycbp2 A G 14: 103,224,366 F1416L probably benign Het
Nlrc4 T C 17: 74,446,843 I182V probably damaging Het
Olfr1351 T C 10: 79,017,720 Y133H possibly damaging Het
Olfr1444 T A 19: 12,862,543 I256N possibly damaging Het
Phc3 T C 3: 30,929,863 T668A possibly damaging Het
Ppp2r2a T C 14: 67,023,097 Y244C probably damaging Het
Prkcq A C 2: 11,277,040 Y460S possibly damaging Het
Prmt8 T A 6: 127,697,807 E286V probably benign Het
Ptprb A T 10: 116,322,532 M503L probably benign Het
Ptprq A T 10: 107,686,319 D590E probably benign Het
Rps6kc1 A T 1: 190,871,836 S196R possibly damaging Het
Ryr3 A G 2: 112,825,799 Y1951H probably benign Het
Sbno1 A T 5: 124,400,195 probably null Het
Sde2 T G 1: 180,851,231 L20R possibly damaging Het
Slco1a5 A T 6: 142,262,688 C81* probably null Het
Snx2 A G 18: 53,199,785 E177G possibly damaging Het
Spg11 A T 2: 122,097,302 V667D probably damaging Het
Tas2r115 T C 6: 132,737,308 T227A probably benign Het
Tmed9 A G 13: 55,593,295 H41R possibly damaging Het
Vmn1r35 T G 6: 66,679,102 S28R probably damaging Het
Vmn2r110 A C 17: 20,584,444 probably null Het
Vstm2l T C 2: 157,935,417 Y72H probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Zbtb4 A T 11: 69,776,429 R187* probably null Het
Zfp598 A G 17: 24,677,543 D198G probably damaging Het
Zp2 G T 7: 120,133,750 A629E possibly damaging 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
IGL02179:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02182:Ror2 APN 13 53110728 missense probably damaging 1.00
IGL02189: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
lavage UTSW 13 53118982 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
R8031:Ror2 UTSW 13 53113157 missense probably damaging 1.00
R8479:Ror2 UTSW 13 53117364 missense probably damaging 0.98
Posted On2015-04-16