Incidental Mutation 'R2411:Ror2'
ID 250007
Institutional Source Beutler Lab
Gene Symbol Ror2
Ensembl Gene ENSMUSG00000021464
Gene Name receptor tyrosine kinase-like orphan receptor 2
Synonyms Ntrkr2
MMRRC Submission 040376-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2411 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 53263353-53440160 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53284980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 144 (P144L)
Ref Sequence ENSEMBL: ENSMUSP00000123362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021918] [ENSMUST00000130235]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000021918
AA Change: P156L

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021918
Gene: ENSMUSG00000021464
AA Change: P156L

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 possibly damaging
Transcript: ENSMUST00000130235
AA Change: P144L

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123362
Gene: ENSMUSG00000021464
AA Change: P144L

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 0.1350 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency 98% (42/43)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
4933402D24Rik A G 1: 63,795,373 (GRCm39) probably benign Het
9030612E09Rik G T 10: 43,050,796 (GRCm39) R30L possibly damaging Het
Aadacl2 A G 3: 59,924,844 (GRCm39) D137G possibly damaging Het
Acad11 T G 9: 103,963,222 (GRCm39) probably benign Het
Acap1 A T 11: 69,776,311 (GRCm39) N229K probably damaging Het
Agbl1 A G 7: 76,369,898 (GRCm39) T666A probably damaging Het
Btbd16 T C 7: 130,391,954 (GRCm39) F160L probably damaging Het
Clock A C 5: 76,379,360 (GRCm39) H525Q probably benign Het
Col6a1 G T 10: 76,546,922 (GRCm39) Q767K unknown Het
Creld1 A G 6: 113,466,737 (GRCm39) H240R probably benign Het
Dlg4 G A 11: 69,932,755 (GRCm39) probably null Het
Fam204a A T 19: 60,187,870 (GRCm39) *237R probably null Het
Filip1 T A 9: 79,805,715 (GRCm39) N13I probably damaging Het
Gm14295 G T 2: 176,499,206 (GRCm39) A19S probably benign Het
Hddc3 A T 7: 79,993,341 (GRCm39) Q56L probably damaging Het
Hes6 A C 1: 91,340,986 (GRCm39) probably null Het
Hormad1 A G 3: 95,487,326 (GRCm39) D270G probably benign Het
Ifitm1 A G 7: 140,549,711 (GRCm39) probably null Het
Igbp1b A C 6: 138,634,871 (GRCm39) V191G probably damaging Het
Impg2 T A 16: 56,072,517 (GRCm39) N316K probably damaging Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Lilra6 T C 7: 3,914,453 (GRCm39) Y566C probably damaging Het
Map4k4 A G 1: 40,046,656 (GRCm39) D775G probably damaging Het
Mtmr10 A T 7: 63,947,245 (GRCm39) K53N probably damaging Het
Mybpc2 G A 7: 44,155,662 (GRCm39) R864W probably damaging Het
Nckap1l C A 15: 103,391,995 (GRCm39) P810Q probably damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or14c44 T C 7: 86,062,290 (GRCm39) V281A possibly damaging Het
Or1ad1 A G 11: 50,875,758 (GRCm39) T77A probably damaging Het
Or4a27 C T 2: 88,559,741 (GRCm39) M67I probably benign Het
Ppp2r3c T C 12: 55,345,269 (GRCm39) K73R probably benign Het
Ptpru A T 4: 131,498,780 (GRCm39) F1311Y probably damaging Het
Setd2 A G 9: 110,379,497 (GRCm39) E1104G possibly damaging Het
St14 G A 9: 31,019,530 (GRCm39) T97I probably benign Het
Stag3 A G 5: 138,281,290 (GRCm39) probably benign Het
Sytl3 T C 17: 7,003,892 (GRCm39) S326P probably damaging Het
Tor1b G T 2: 30,845,824 (GRCm39) S167I probably damaging Het
Ttn T A 2: 76,568,359 (GRCm39) E27511D probably damaging Het
Uso1 T A 5: 92,306,258 (GRCm39) probably benign Het
Vmn1r10 G T 6: 57,091,124 (GRCm39) V239F probably benign Het
Vps35l G C 7: 118,391,818 (GRCm39) A410P probably damaging Het
Zfp160 C T 17: 21,246,007 (GRCm39) R186C possibly damaging Het
Zfp869 A G 8: 70,159,179 (GRCm39) C465R probably damaging Het
Zfp957 T C 14: 79,451,782 (GRCm39) K6E unknown 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
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
Predicted Primers PCR Primer
(F):5'- TTAAATGCCTGTTCAGCTGGG -3'
(R):5'- CCAGCTTTAATGAGCAAAACAGG -3'

Sequencing Primer
(F):5'- TGTTCAGCTGGGCTCCC -3'
(R):5'- TACAGTTTAGATGAGGAACGAGC -3'
Posted On 2014-11-12