Incidental Mutation 'R1368:Ror1'
ID 155867
Institutional Source Beutler Lab
Gene Symbol Ror1
Ensembl Gene ENSMUSG00000035305
Gene Name receptor tyrosine kinase-like orphan receptor 1
Synonyms Ntrkr1, 2810404D04Rik
MMRRC Submission 039433-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1368 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 99952988-100301962 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100298334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 569 (P569L)
Ref Sequence ENSEMBL: ENSMUSP00000048171 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039630]
AlphaFold Q9Z139
Predicted Effect possibly damaging
Transcript: ENSMUST00000039630
AA Change: P569L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048171
Gene: ENSMUSG00000035305
AA Change: P569L

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
IGc2 70 138 8.37e-15 SMART
Pfam:Fz 170 290 4.9e-13 PFAM
KR 311 393 7.57e-47 SMART
transmembrane domain 404 426 N/A INTRINSIC
TyrKc 473 746 2.46e-137 SMART
low complexity region 753 762 N/A INTRINSIC
low complexity region 817 828 N/A INTRINSIC
low complexity region 849 864 N/A INTRINSIC
Meta Mutation Damage Score 0.8042 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: This gene encodes a receptor tyrosine kinase that has been implicated in nervous system development, specifically in the maintenance of neural progenitor cell fate, neurite extension and synapse formation. The encoded protein, likely a pseudokinase that lacks catalytic activity, may also regulate adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for some disruptions in this gene die within the first day after birth from respiratory defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,241,836 (GRCm39) D1233G probably benign Het
Abcc8 G A 7: 45,772,284 (GRCm39) R832W probably damaging Het
Atp10b A G 11: 43,092,981 (GRCm39) T439A probably damaging Het
Brd10 C A 19: 29,693,796 (GRCm39) S1966I probably damaging Het
C130073F10Rik T A 4: 101,747,953 (GRCm39) N74Y possibly damaging Het
Cct8 G A 16: 87,288,200 (GRCm39) S124L probably damaging Het
Cdh9 T A 15: 16,848,568 (GRCm39) probably benign Het
Cep290 C T 10: 100,330,828 (GRCm39) probably benign Het
Chrng T A 1: 87,133,575 (GRCm39) L10H probably damaging Het
Cnn3 T C 3: 121,250,786 (GRCm39) L189S probably benign Het
Cog4 A G 8: 111,585,157 (GRCm39) probably benign Het
Cxcl12 A G 6: 117,153,111 (GRCm39) probably benign Het
Eif2b2 G A 12: 85,270,230 (GRCm39) A257T probably damaging Het
Entrep2 A T 7: 64,469,625 (GRCm39) V41E probably damaging Het
Fanca G A 8: 124,031,020 (GRCm39) probably benign Het
Fcgbpl1 A G 7: 27,858,903 (GRCm39) Q2341R possibly damaging Het
Fktn G A 4: 53,734,880 (GRCm39) G173R probably damaging Het
Gabbr2 T C 4: 46,674,464 (GRCm39) N841S probably benign Het
Gm5622 T A 14: 51,899,647 (GRCm39) V167E possibly damaging Het
Gnaq T C 19: 16,355,651 (GRCm39) V289A probably benign Het
Gpatch2l T G 12: 86,307,439 (GRCm39) D272E possibly damaging Het
Gzmg G A 14: 56,395,263 (GRCm39) T74I probably benign Het
Ikzf2 G A 1: 69,578,474 (GRCm39) A271V possibly damaging Het
Lig4 T C 8: 10,021,176 (GRCm39) D868G possibly damaging Het
Mfsd6 T C 1: 52,747,764 (GRCm39) E367G possibly damaging Het
Mpz T C 1: 170,987,533 (GRCm39) L223P probably damaging Het
Muc17 T C 5: 137,175,674 (GRCm39) probably benign Het
Or2f1b C A 6: 42,739,613 (GRCm39) T209K possibly damaging Het
Pdcd2 G T 17: 15,746,846 (GRCm39) N104K probably damaging Het
Pigg G T 5: 108,465,154 (GRCm39) G129V probably damaging Het
Ppp3cc T C 14: 70,483,311 (GRCm39) Y254C probably damaging Het
Prl3b1 G A 13: 27,427,848 (GRCm39) A53T probably benign Het
Psg23 A G 7: 18,348,645 (GRCm39) V54A probably benign Het
Psmd3 A G 11: 98,573,746 (GRCm39) D64G probably damaging Het
Psmg2 CTTCAGTT CTTCAGTTCAGTT 18: 67,779,095 (GRCm39) probably null Het
Ptgdr T A 14: 45,090,799 (GRCm39) I320F probably damaging Het
Rad50 T A 11: 53,574,072 (GRCm39) K722* probably null Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rgs9 G A 11: 109,138,977 (GRCm39) S255L probably benign Het
Rsad2 T C 12: 26,497,147 (GRCm39) probably null Het
Scn8a A G 15: 100,933,422 (GRCm39) D1501G probably damaging Het
Sema3c A G 5: 17,883,330 (GRCm39) T313A possibly damaging Het
Serpinc1 T A 1: 160,821,094 (GRCm39) F59L probably damaging Het
Sike1 A G 3: 102,903,500 (GRCm39) D63G possibly damaging Het
Slc25a11 T A 11: 70,536,352 (GRCm39) probably null Het
Slc32a1 A G 2: 158,453,240 (GRCm39) M27V probably benign Het
Smc5 A G 19: 23,187,807 (GRCm39) V1003A probably damaging Het
Tll2 G A 19: 41,108,667 (GRCm39) R328C probably damaging Het
Topaz1 A G 9: 122,577,315 (GRCm39) E75G possibly damaging Het
Tspan3 A T 9: 56,054,783 (GRCm39) V48E probably benign Het
Ugt1a6b T C 1: 88,035,358 (GRCm39) I232T probably benign Het
Unc79 A G 12: 103,122,772 (GRCm39) K2290E probably damaging Het
Vmn1r19 T C 6: 57,381,656 (GRCm39) F70L probably benign Het
Other mutations in Ror1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Ror1 APN 4 100,190,940 (GRCm39) missense probably damaging 1.00
IGL00939:Ror1 APN 4 100,298,423 (GRCm39) missense probably benign 0.01
IGL01408:Ror1 APN 4 100,190,984 (GRCm39) missense probably damaging 1.00
IGL01678:Ror1 APN 4 100,283,165 (GRCm39) missense possibly damaging 0.68
IGL01700:Ror1 APN 4 100,266,968 (GRCm39) missense probably damaging 1.00
IGL01985:Ror1 APN 4 100,283,161 (GRCm39) missense possibly damaging 0.94
IGL02002:Ror1 APN 4 100,298,381 (GRCm39) missense probably damaging 1.00
IGL02634:Ror1 APN 4 100,283,307 (GRCm39) missense probably benign 0.00
IGL02995:Ror1 APN 4 100,191,722 (GRCm39) splice site probably benign
IGL03033:Ror1 APN 4 100,269,092 (GRCm39) missense possibly damaging 0.67
IGL03207:Ror1 APN 4 100,265,142 (GRCm39) splice site probably null
F5770:Ror1 UTSW 4 100,298,130 (GRCm39) missense probably damaging 0.99
R0256:Ror1 UTSW 4 100,266,942 (GRCm39) missense probably benign 0.20
R0417:Ror1 UTSW 4 100,269,197 (GRCm39) missense possibly damaging 0.94
R0525:Ror1 UTSW 4 100,298,717 (GRCm39) missense probably damaging 1.00
R1034:Ror1 UTSW 4 100,190,817 (GRCm39) nonsense probably null
R1278:Ror1 UTSW 4 100,299,075 (GRCm39) missense possibly damaging 0.69
R1437:Ror1 UTSW 4 100,269,306 (GRCm39) missense probably benign
R1441:Ror1 UTSW 4 100,298,180 (GRCm39) missense probably benign
R1544:Ror1 UTSW 4 100,299,183 (GRCm39) missense probably damaging 1.00
R1717:Ror1 UTSW 4 100,160,135 (GRCm39) missense probably benign
R1857:Ror1 UTSW 4 100,298,700 (GRCm39) missense probably damaging 1.00
R2018:Ror1 UTSW 4 100,265,038 (GRCm39) nonsense probably null
R2051:Ror1 UTSW 4 100,265,065 (GRCm39) nonsense probably null
R2127:Ror1 UTSW 4 100,299,290 (GRCm39) missense probably benign
R2132:Ror1 UTSW 4 100,267,222 (GRCm39) missense probably benign 0.35
R2133:Ror1 UTSW 4 100,267,222 (GRCm39) missense probably benign 0.35
R2176:Ror1 UTSW 4 100,299,071 (GRCm39) missense probably damaging 0.99
R2431:Ror1 UTSW 4 100,298,352 (GRCm39) missense probably damaging 1.00
R2896:Ror1 UTSW 4 99,953,477 (GRCm39) missense unknown
R3005:Ror1 UTSW 4 100,298,961 (GRCm39) missense probably damaging 0.99
R3780:Ror1 UTSW 4 100,269,314 (GRCm39) missense probably benign 0.34
R3850:Ror1 UTSW 4 100,299,357 (GRCm39) missense possibly damaging 0.90
R3861:Ror1 UTSW 4 100,265,120 (GRCm39) missense possibly damaging 0.46
R4599:Ror1 UTSW 4 100,265,107 (GRCm39) missense probably damaging 0.99
R4863:Ror1 UTSW 4 100,267,001 (GRCm39) missense probably damaging 0.99
R4871:Ror1 UTSW 4 100,283,195 (GRCm39) missense probably benign
R4990:Ror1 UTSW 4 100,299,161 (GRCm39) missense probably benign
R5023:Ror1 UTSW 4 100,283,129 (GRCm39) missense probably benign 0.01
R5028:Ror1 UTSW 4 100,269,133 (GRCm39) missense possibly damaging 0.67
R5079:Ror1 UTSW 4 100,298,619 (GRCm39) missense probably damaging 1.00
R5294:Ror1 UTSW 4 100,283,135 (GRCm39) missense probably benign 0.00
R5538:Ror1 UTSW 4 100,298,208 (GRCm39) missense probably benign
R6339:Ror1 UTSW 4 100,269,128 (GRCm39) missense possibly damaging 0.91
R6491:Ror1 UTSW 4 100,267,109 (GRCm39) missense possibly damaging 0.94
R6632:Ror1 UTSW 4 100,299,303 (GRCm39) missense probably benign
R6733:Ror1 UTSW 4 100,283,252 (GRCm39) missense probably benign
R7022:Ror1 UTSW 4 100,265,108 (GRCm39) missense probably damaging 1.00
R7054:Ror1 UTSW 4 100,299,436 (GRCm39) missense probably benign 0.00
R7121:Ror1 UTSW 4 100,160,142 (GRCm39) missense probably benign 0.00
R7350:Ror1 UTSW 4 100,283,140 (GRCm39) missense probably benign 0.00
R7492:Ror1 UTSW 4 100,298,256 (GRCm39) missense probably benign 0.22
R7502:Ror1 UTSW 4 100,190,827 (GRCm39) missense probably benign 0.03
R7531:Ror1 UTSW 4 100,298,388 (GRCm39) missense probably damaging 1.00
R7661:Ror1 UTSW 4 100,298,687 (GRCm39) missense probably damaging 1.00
R7822:Ror1 UTSW 4 100,298,564 (GRCm39) missense probably damaging 1.00
R7831:Ror1 UTSW 4 100,298,295 (GRCm39) missense probably benign 0.01
R8366:Ror1 UTSW 4 100,267,195 (GRCm39) missense possibly damaging 0.91
R8539:Ror1 UTSW 4 100,299,084 (GRCm39) missense possibly damaging 0.71
R8757:Ror1 UTSW 4 100,298,080 (GRCm39) missense probably benign 0.01
R8862:Ror1 UTSW 4 100,191,715 (GRCm39) critical splice donor site probably null
R8913:Ror1 UTSW 4 100,265,027 (GRCm39) missense possibly damaging 0.89
R9382:Ror1 UTSW 4 100,191,709 (GRCm39) missense probably benign 0.00
V7580:Ror1 UTSW 4 100,298,130 (GRCm39) missense probably damaging 0.99
V7583:Ror1 UTSW 4 100,298,130 (GRCm39) missense probably damaging 0.99
X0020:Ror1 UTSW 4 100,283,287 (GRCm39) missense probably benign 0.02
Z1177:Ror1 UTSW 4 100,160,116 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCCCAGCAGTGGACAGAATTTCAAC -3'
(R):5'- TTGCCGTACATGATGGCCTCAG -3'

Sequencing Primer
(F):5'- GAATTTCAACAGGAAGCCTCTCTC -3'
(R):5'- GGCAGTGAAGACTTACTCTGTACC -3'
Posted On 2014-02-11